MyHealth@Eu Hospital Discharge Report
0.0.1 - qa-preview
150
MyHealth@Eu Hospital Discharge Report
0.0.1 - qa-preview
150
MyHealth@Eu Hospital Discharge Report - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
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@prefix fhir: <http://hl7.org/fhir/> . @prefix owl: <http://www.w3.org/2002/07/owl#> . @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> . @prefix xsd: <http://www.w3.org/2001/XMLSchema#> . # - resource ------------------------------------------------------------------- a fhir:ValueSet ; fhir:nodeRole fhir:treeRoot ; fhir:id [ fhir:v "eHDSIRareDisease"] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet eHDSIRareDisease</b></p><a name=\"eHDSIRareDisease\"> </a><a name=\"hceHDSIRareDisease\"> </a><a name=\"eHDSIRareDisease-en-US\"> </a><ul><li>Include these codes as defined in <code>https://www.orpha.net</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>10</td><td>48,XXYY syndrome</td></tr><tr><td>100</td><td>Ataxia-telangiectasia</td></tr><tr><td>1000</td><td>Ocular albinism with late-onset sensorineural deafness</td></tr><tr><td>100000</td><td>Reticular perineurioma</td></tr><tr><td>100001</td><td>Sclerosing perineurioma</td></tr><tr><td>100002</td><td>Extraneural perineurioma</td></tr><tr><td>100003</td><td>Intraneural perineurioma</td></tr><tr><td>100006</td><td>ABeta amyloidosis, Dutch type</td></tr><tr><td>100008</td><td>ACys amyloidosis</td></tr><tr><td>100011</td><td>Lissencephaly with cerebellar hypoplasia type A</td></tr><tr><td>100012</td><td>Lissencephaly with cerebellar hypoplasia type B</td></tr><tr><td>100013</td><td>Lissencephaly with cerebellar hypoplasia type C</td></tr><tr><td>100014</td><td>Lissencephaly with cerebellar hypoplasia type D</td></tr><tr><td>100015</td><td>Lissencephaly with cerebellar hypoplasia type E</td></tr><tr><td>100016</td><td>Lissencephaly with cerebellar hypoplasia type F</td></tr><tr><td>100019</td><td>Refractory anemia with excess blasts type 1</td></tr><tr><td>100020</td><td>Refractory anemia with excess blasts type 2</td></tr><tr><td>100021</td><td>Primary plasmacytoma of the bone</td></tr><tr><td>100022</td><td>Extramedullary soft tissue plasmacytoma</td></tr><tr><td>100024</td><td>Mu-heavy chain disease</td></tr><tr><td>100025</td><td>Alpha-heavy chain disease</td></tr><tr><td>100026</td><td>Gamma-heavy chain disease</td></tr><tr><td>100031</td><td>Hypoplastic amelogenesis imperfecta</td></tr><tr><td>100032</td><td>Hypocalcified amelogenesis imperfecta</td></tr><tr><td>100033</td><td>Hypomaturation amelogenesis imperfecta</td></tr><tr><td>100034</td><td>Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism</td></tr><tr><td>100035</td><td>Solitary necrotic nodule of the liver</td></tr><tr><td>100043</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type A</td></tr><tr><td>100044</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type B</td></tr><tr><td>100045</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type C</td></tr><tr><td>100046</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type D</td></tr><tr><td>100047</td><td>Esophageal duplication cyst</td></tr><tr><td>100048</td><td>Tubular duplication of the esophagus</td></tr><tr><td>100050</td><td>Hereditary angioedema type 1</td></tr><tr><td>100051</td><td>Hereditary angioedema type 2</td></tr><tr><td>100054</td><td>F12-related hereditary angioedema with normal C1Inh</td></tr><tr><td>100055</td><td>Acquired angioedema type 2</td></tr><tr><td>100056</td><td>Acquired angioedema type 1</td></tr><tr><td>100057</td><td>Renin-angiotensin-aldosterone system-blocker-induced angioedema</td></tr><tr><td>100067</td><td>Waterhouse-Friderichsen syndrome</td></tr><tr><td>100069</td><td>Semantic dementia</td></tr><tr><td>100070</td><td>Progressive non-fluent aphasia</td></tr><tr><td>100071</td><td>Mosaic trisomy 3</td></tr><tr><td>100073</td><td>Neurogenic thoracic outlet syndrome</td></tr><tr><td>100075</td><td>Neuroendocrine tumor of stomach</td></tr><tr><td>100078</td><td>Ileal neuroendocrine tumor</td></tr><tr><td>100079</td><td>Neuroendocrine neoplasm of appendix</td></tr><tr><td>100080</td><td>Neuroendocrine tumor of the colon</td></tr><tr><td>100081</td><td>Neuroendocrine tumor of the rectum</td></tr><tr><td>100082</td><td>Neuroendocrine tumor of anal canal</td></tr><tr><td>100083</td><td>Laryngeal neuroendocrine tumor</td></tr><tr><td>100084</td><td>Middle ear neuroendocrine tumor</td></tr><tr><td>100085</td><td>Primary hepatic neuroendocrine carcinoma</td></tr><tr><td>100086</td><td>Gallbladder neuroendocrine tumor</td></tr><tr><td>100093</td><td>Carcinoid syndrome</td></tr><tr><td>1001</td><td>2q37 microdeletion syndrome</td></tr><tr><td>1003</td><td>Scalp defects-postaxial polydactyly syndrome</td></tr><tr><td>1005</td><td>Alopecia-contractures-dwarfism-intellectual disability syndrome</td></tr><tr><td>1006</td><td>Alopecia antibody deficiency</td></tr><tr><td>1008</td><td>Alopecia-epilepsy-pyorrhea-intellectual disability syndrome</td></tr><tr><td>100924</td><td>Porphyria due to ALA dehydratase deficiency</td></tr><tr><td>100973</td><td>FRAXE intellectual disability</td></tr><tr><td>100974</td><td>FRAXF syndrome</td></tr><tr><td>100976</td><td>Bathing suit ichthyosis</td></tr><tr><td>100978</td><td>Cloverleaf skull-asphyxiating thoracic dysplasia syndrome</td></tr><tr><td>100984</td><td>Autosomal dominant spastic paraplegia type 3</td></tr><tr><td>100985</td><td>Autosomal dominant spastic paraplegia type 4</td></tr><tr><td>100986</td><td>Autosomal recessive spastic paraplegia type 5A</td></tr><tr><td>100988</td><td>Autosomal dominant spastic paraplegia type 6</td></tr><tr><td>100989</td><td>Autosomal dominant spastic paraplegia type 8</td></tr><tr><td>100991</td><td>Autosomal dominant spastic paraplegia type 10</td></tr><tr><td>100993</td><td>Autosomal dominant spastic paraplegia type 12</td></tr><tr><td>100994</td><td>Autosomal dominant spastic paraplegia type 13</td></tr><tr><td>100995</td><td>Autosomal recessive spastic paraplegia type 14</td></tr><tr><td>100996</td><td>Autosomal recessive spastic paraplegia type 15</td></tr><tr><td>100997</td><td>X-linked spastic paraplegia type 16</td></tr><tr><td>100998</td><td>Autosomal dominant spastic paraplegia type 17</td></tr><tr><td>100999</td><td>Autosomal dominant spastic paraplegia type 19</td></tr><tr><td>101</td><td>Dentatorubral pallidoluysian atrophy</td></tr><tr><td>1010</td><td>Autosomal dominant palmoplantar keratoderma and congenital alopecia</td></tr><tr><td>101000</td><td>Autosomal recessive spastic paraplegia type 20</td></tr><tr><td>101001</td><td>Autosomal recessive spastic paraplegia type 21</td></tr><tr><td>101003</td><td>Autosomal recessive spastic paraplegia type 23</td></tr><tr><td>101004</td><td>Autosomal recessive spastic paraplegia type 24</td></tr><tr><td>101005</td><td>Autosomal recessive spastic paraplegia type 25</td></tr><tr><td>101006</td><td>Autosomal recessive spastic paraplegia type 26</td></tr><tr><td>101007</td><td>Autosomal recessive spastic paraplegia type 27</td></tr><tr><td>101008</td><td>Autosomal recessive spastic paraplegia type 28</td></tr><tr><td>101009</td><td>Autosomal dominant spastic paraplegia type 29</td></tr><tr><td>101010</td><td>Autosomal spastic paraplegia type 30</td></tr><tr><td>101011</td><td>Autosomal dominant spastic paraplegia type 31</td></tr><tr><td>101016</td><td>Romano-Ward syndrome</td></tr><tr><td>101023</td><td>Cleft hard palate</td></tr><tr><td>101028</td><td>Transaldolase deficiency</td></tr><tr><td>101029</td><td>Sub-cortical nodular heterotopia</td></tr><tr><td>101030</td><td>Subependymal nodular heterotopia</td></tr><tr><td>101039</td><td>Female restricted epilepsy with intellectual disability</td></tr><tr><td>101041</td><td>Familial hypofibrinogenemia</td></tr><tr><td>101043</td><td>Congenital aortic valve dysplasia</td></tr><tr><td>101046</td><td>Autosomal dominant epilepsy with auditory features</td></tr><tr><td>101049</td><td>Familial hypocalciuric hypercalcemia type 2</td></tr><tr><td>101050</td><td>Familial hypocalciuric hypercalcemia type 3</td></tr><tr><td>101063</td><td>Situs inversus totalis</td></tr><tr><td>101068</td><td>Congenital stromal corneal dystrophy</td></tr><tr><td>101070</td><td>Bilateral frontoparietal polymicrogyria</td></tr><tr><td>101071</td><td>Unilateral hemispheric polymicrogyria</td></tr><tr><td>101075</td><td>X-linked Charcot-Marie-Tooth disease type 1</td></tr><tr><td>101076</td><td>X-linked Charcot-Marie-Tooth disease type 2</td></tr><tr><td>101077</td><td>X-linked Charcot-Marie-Tooth disease type 3</td></tr><tr><td>101078</td><td>X-linked Charcot-Marie-Tooth disease type 4</td></tr><tr><td>101081</td><td>Charcot-Marie-Tooth disease type 1A</td></tr><tr><td>101082</td><td>Charcot-Marie-Tooth disease type 1B</td></tr><tr><td>101083</td><td>Charcot-Marie-Tooth disease type 1C</td></tr><tr><td>101084</td><td>Charcot-Marie-Tooth disease type 1D</td></tr><tr><td>101085</td><td>Charcot-Marie-Tooth disease type 1F</td></tr><tr><td>101088</td><td>X-linked hyper-IgM syndrome</td></tr><tr><td>101089</td><td>Hyper-IgM syndrome type 2</td></tr><tr><td>101090</td><td>Hyper-IgM syndrome type 3</td></tr><tr><td>101091</td><td>Hyper-IgM syndrome type 4</td></tr><tr><td>101092</td><td>Hyper-IgM syndrome type 5</td></tr><tr><td>101096</td><td>Aregenerative anemia</td></tr><tr><td>101097</td><td>Autosomal recessive Charcot-Marie-Tooth disease with hoarseness</td></tr><tr><td>101101</td><td>Charcot-Marie-Tooth disease type 2B2</td></tr><tr><td>101102</td><td>Charcot-Marie-Tooth disease type 2H</td></tr><tr><td>101104</td><td>Marin-Amat syndrome</td></tr><tr><td>101108</td><td>Spinocerebellar ataxia type 23</td></tr><tr><td>101109</td><td>Spinocerebellar ataxia type 28</td></tr><tr><td>101110</td><td>Spinocerebellar ataxia type 20</td></tr><tr><td>101111</td><td>Spinocerebellar ataxia type 25</td></tr><tr><td>101112</td><td>Spinocerebellar ataxia type 26</td></tr><tr><td>101150</td><td>Autosomal recessive dopa-responsive dystonia</td></tr><tr><td>101206</td><td>Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome</td></tr><tr><td>101330</td><td>Porphyria cutanea tarda</td></tr><tr><td>101334</td><td>African tick typhus</td></tr><tr><td>101351</td><td>Familial isolated congenital asplenia</td></tr><tr><td>1014</td><td>Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome</td></tr><tr><td>101685</td><td>Rare non-syndromic intellectual disability</td></tr><tr><td>1018</td><td>X-linked Alport syndrome-diffuse leiomyomatosis</td></tr><tr><td>101932</td><td>Anomaly of the mitral subvalvular apparatus</td></tr><tr><td>102</td><td>Multiple system atrophy</td></tr><tr><td>1020</td><td>Early-onset autosomal dominant Alzheimer disease</td></tr><tr><td>1021</td><td>Amaurosis-hypertrichosis syndrome</td></tr><tr><td>1023</td><td>Congenital generalized hypertrichosis, Ambras type</td></tr><tr><td>102379</td><td>Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent</td></tr><tr><td>102381</td><td>Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor</td></tr><tr><td>1027</td><td>Autosomal recessive amelia</td></tr><tr><td>102724</td><td>Acute myeloid leukemia with t(8;21)(q22;q22) translocation</td></tr><tr><td>1028</td><td>Amelo-onycho-hypohidrotic syndrome</td></tr><tr><td>1031</td><td>Enamel-renal syndrome</td></tr><tr><td>1035</td><td>Beta-mercaptolactate cysteine disulfiduria</td></tr><tr><td>103907</td><td>Chronic diarrhea due to glucoamylase deficiency</td></tr><tr><td>103908</td><td>Congenital sodium diarrhea</td></tr><tr><td>103909</td><td>Trehalase deficiency</td></tr><tr><td>103910</td><td>Congenital enterocyte heparan sulfate deficiency</td></tr><tr><td>103918</td><td>Tropical pancreatitis</td></tr><tr><td>103920</td><td>Undetermined colitis</td></tr><tr><td>104</td><td>Leber hereditary optic neuropathy</td></tr><tr><td>1040</td><td>Metaphyseal anadysplasia</td></tr><tr><td>104075</td><td>Adenocarcinoma of the small intestine</td></tr><tr><td>104076</td><td>Leiomyosarcoma of small intestine</td></tr><tr><td>104077</td><td>Myopathic intestinal pseudoobstruction</td></tr><tr><td>104078</td><td>Unclassified intestinal pseudoobstruction</td></tr><tr><td>1041</td><td>Hydrops fetalis</td></tr><tr><td>1046</td><td>Lethal hemolytic anemia-genital anomalies syndrome</td></tr><tr><td>1048</td><td>Isolated anencephaly/exencephaly</td></tr><tr><td>105</td><td>Atresia of urethra</td></tr><tr><td>1051</td><td>Ramos-Arroyo syndrome</td></tr><tr><td>1052</td><td>Mosaic variegated aneuploidy syndrome</td></tr><tr><td>1053</td><td>Vein of Galen aneurysmal malformation</td></tr><tr><td>1054</td><td>Aneurysm of sinus of Valsalva</td></tr><tr><td>1055</td><td>Congenital left ventricular aneurysm</td></tr><tr><td>1059</td><td>Blue rubber bleb nevus</td></tr><tr><td>1062</td><td>Hereditary neurocutaneous malformation</td></tr><tr><td>1063</td><td>Tufted angioma</td></tr><tr><td>1064</td><td>Aniridia-renal agenesis-psychomotor retardation syndrome</td></tr><tr><td>1065</td><td>Aniridia-cerebellar ataxia-intellectual disability syndrome</td></tr><tr><td>1067</td><td>Aniridia-ptosis-intellectual disability-familial obesity syndrome</td></tr><tr><td>1068</td><td>Aniridia-intellectual disability syndrome</td></tr><tr><td>1069</td><td>Aniridia-absent patella syndrome</td></tr><tr><td>107</td><td>BOR syndrome</td></tr><tr><td>1070</td><td>Anisakiasis</td></tr><tr><td>1071</td><td>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</td></tr><tr><td>1072</td><td>Ankyloblepharon filiforme adnatum-cleft palate syndrome</td></tr><tr><td>1074</td><td>Ankyloblepharon filiforme adnatum-imperforate anus syndrome</td></tr><tr><td>1077</td><td>Dental ankylosis</td></tr><tr><td>1078</td><td>Thumb stiffness-brachydactyly-intellectual disability syndrome</td></tr><tr><td>108</td><td>Babesiosis</td></tr><tr><td>1083</td><td>Microlissencephaly</td></tr><tr><td>1084</td><td>Isolated lissencephaly type 1 without known genetic defects</td></tr><tr><td>109</td><td>Bannayan-Riley-Ruvalcaba syndrome</td></tr><tr><td>1094</td><td>Anonychia-microcephaly syndrome</td></tr><tr><td>11</td><td>Pentasomy X</td></tr><tr><td>110</td><td>Bardet-Biedl syndrome</td></tr><tr><td>1101</td><td>Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome</td></tr><tr><td>1104</td><td>Anophthalmia plus syndrome</td></tr><tr><td>1106</td><td>Microphthalmia with limb anomalies</td></tr><tr><td>111</td><td>Barth syndrome</td></tr><tr><td>1110</td><td>Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>1112</td><td>Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome</td></tr><tr><td>1113</td><td>Aphalangy-syndactyly-microcephaly syndrome</td></tr><tr><td>1114</td><td>Aplasia cutis congenita</td></tr><tr><td>1116</td><td>Aplasia cutis congenita-intestinal lymphangiectasia syndrome</td></tr><tr><td>1117</td><td>Aplasia cutis-myopia syndrome</td></tr><tr><td>1118</td><td>Fibular aplasia-ectrodactyly syndrome</td></tr><tr><td>112</td><td>Bartter syndrome</td></tr><tr><td>1120</td><td>Lung agenesis-heart defect-thumb anomalies syndrome</td></tr><tr><td>1121</td><td>Radial deficiency-tibial hypoplasia syndrome</td></tr><tr><td>1122</td><td>Ulnar hypoplasia-split foot syndrome</td></tr><tr><td>1123</td><td>Caudal appendage-deafness syndrome</td></tr><tr><td>1125</td><td>Ocular motor apraxia, Cogan type</td></tr><tr><td>1126</td><td>Aprosencephaly cerebellar dysgenesis</td></tr><tr><td>1129</td><td>Arachnodactyly-abnormal ossification-intellectual disability syndrome</td></tr><tr><td>113</td><td>Bazex-Dupré-Christol syndrome</td></tr><tr><td>1130</td><td>Arachnodactyly-intellectual disability-dysmorphism syndrome</td></tr><tr><td>1131</td><td>X-linked mandibulofacial dysostosis</td></tr><tr><td>1133</td><td>AREDYLD syndrome</td></tr><tr><td>1134</td><td>Isolated arrhinia</td></tr><tr><td>1135</td><td>Arrhinia-choanal atresia-microphthalmia syndrome</td></tr><tr><td>114</td><td>Auriculoosteodysplasia</td></tr><tr><td>1143</td><td>Neurogenic arthrogryposis multiplex congenita</td></tr><tr><td>1144</td><td>Arthrogryposis-like hand anomaly-sensorineural deafness syndrome</td></tr><tr><td>1145</td><td>Infantile-onset X-linked spinal muscular atrophy</td></tr><tr><td>1146</td><td>Distal arthrogryposis type 1</td></tr><tr><td>1147</td><td>Sheldon-Hall syndrome</td></tr><tr><td>1149</td><td>Kuskokwim syndrome</td></tr><tr><td>115</td><td>Congenital contractural arachnodactyly</td></tr><tr><td>1150</td><td>Arthrogryposis multiplex congenita-whistling face syndrome</td></tr><tr><td>1154</td><td>Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome</td></tr><tr><td>1159</td><td>Progressive pseudorheumatoid arthropathy of childhood</td></tr><tr><td>116</td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td>1160</td><td>Chylous ascites</td></tr><tr><td>1163</td><td>Aspergillosis</td></tr><tr><td>1164</td><td>Allergic bronchopulmonary aspergillosis</td></tr><tr><td>1166</td><td>Congenital unilateral hypoplasia of depressor anguli oris</td></tr><tr><td>1168</td><td>Ataxia-oculomotor apraxia type 1</td></tr><tr><td>117</td><td>Behçet disease</td></tr><tr><td>1170</td><td>Autosomal recessive cerebelloparenchymal disorder type 3</td></tr><tr><td>1171</td><td>Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome</td></tr><tr><td>1173</td><td>Cerebellar ataxia-hypogonadism syndrome</td></tr><tr><td>1174</td><td>Cerebellar ataxia-ectodermal dysplasia syndrome</td></tr><tr><td>1175</td><td>X-linked progressive cerebellar ataxia</td></tr><tr><td>1177</td><td>Early-onset cerebellar ataxia with retained tendon reflexes</td></tr><tr><td>1178</td><td>Ataxia-tapetoretinal degeneration syndrome</td></tr><tr><td>1179</td><td>Benign paroxysmal tonic upgaze of childhood with ataxia</td></tr><tr><td>118</td><td>Beta-mannosidosis</td></tr><tr><td>1180</td><td>Ataxia-hypogonadism-choroidal dystrophy syndrome</td></tr><tr><td>1182</td><td>Spastic ataxia with congenital miosis</td></tr><tr><td>1183</td><td>Opsoclonus-myoclonus syndrome</td></tr><tr><td>1184</td><td>Ataxia-photosensitivity-short stature syndrome</td></tr><tr><td>1185</td><td>Spinocerebellar ataxia-dysmorphism syndrome</td></tr><tr><td>1186</td><td>Infantile-onset spinocerebellar ataxia</td></tr><tr><td>1187</td><td>Lethal ataxia with deafness and optic atrophy</td></tr><tr><td>1188</td><td>Ataxia-deafness-intellectual disability syndrome</td></tr><tr><td>119</td><td>Beta-sarcoglycan-related limb-girdle muscular dystrophy R4</td></tr><tr><td>1190</td><td>Atelosteogenesis type I</td></tr><tr><td>1192</td><td>Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome</td></tr><tr><td>1193</td><td>Atkin-Flaitz syndrome</td></tr><tr><td>1194</td><td>TMEM70-related mitochondrial encephalo-cardio-myopathy</td></tr><tr><td>1195</td><td>Congenital atransferrinemia</td></tr><tr><td>1198</td><td>Colonic atresia</td></tr><tr><td>1199</td><td>Esophageal atresia</td></tr><tr><td>1200</td><td>Burn-McKeown syndrome</td></tr><tr><td>1201</td><td>Small bowel atresia</td></tr><tr><td>1202</td><td>Larynx atresia</td></tr><tr><td>1203</td><td>Duodenal atresia</td></tr><tr><td>1205</td><td>Mitral atresia</td></tr><tr><td>1207</td><td>Pulmonary atresia with ventricular septal defect</td></tr><tr><td>1208</td><td>Pulmonary atresia-intact ventricular septum syndrome</td></tr><tr><td>1209</td><td>Tricuspid atresia</td></tr><tr><td>1214</td><td>Progressive hemifacial atrophy</td></tr><tr><td>1215</td><td>Autosomal dominant optic atrophy plus syndrome</td></tr><tr><td>1216</td><td>Autosomal dominant congenital benign spinal muscular atrophy</td></tr><tr><td>1217</td><td>Spinal atrophy-ophthalmoplegia-pyramidal syndrome</td></tr><tr><td>122</td><td>Birt-Hogg-Dubé syndrome</td></tr><tr><td>1221</td><td>Cheilitis glandularis</td></tr><tr><td>1223</td><td>Balantidiasis</td></tr><tr><td>1225</td><td>Baller-Gerold syndrome</td></tr><tr><td>1226</td><td>Bamforth-Lazarus syndrome</td></tr><tr><td>1227</td><td>Bangstad syndrome</td></tr><tr><td>1228</td><td>Banki syndrome</td></tr><tr><td>1229</td><td>Congenital intrauterine infection-like syndrome</td></tr><tr><td>123</td><td>Björnstad syndrome</td></tr><tr><td>1231</td><td>Barber-Say syndrome</td></tr><tr><td>1234</td><td>Bartsocas-Papas syndrome</td></tr><tr><td>1236</td><td>Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome</td></tr><tr><td>1237</td><td>Beemer-Ertbruggen syndrome</td></tr><tr><td>124</td><td>Diamond-Blackfan anemia</td></tr><tr><td>1240</td><td>Metaphyseal acroscyphodysplasia</td></tr><tr><td>1241</td><td>Bencze syndrome</td></tr><tr><td>1243</td><td>Best vitelliform macular dystrophy</td></tr><tr><td>1246</td><td>Brachydactyly-nystagmus-cerebellar ataxia syndrome</td></tr><tr><td>1247</td><td>Schistosomiasis</td></tr><tr><td>1248</td><td>Maxillonasal dysplasia</td></tr><tr><td>125</td><td>Bloom syndrome</td></tr><tr><td>1252</td><td>Blepharonasofacial malformation syndrome</td></tr><tr><td>1253</td><td>Ascher syndrome</td></tr><tr><td>1259</td><td>Blepharoptosis-myopia-ectopia lentis syndrome</td></tr><tr><td>126</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome</td></tr><tr><td>1261</td><td>Bonnemann-Meinecke-Reich syndrome</td></tr><tr><td>1262</td><td>Böök syndrome</td></tr><tr><td>1263</td><td>Boomerang dysplasia</td></tr><tr><td>1264</td><td>Tricho-retino-dento-digital syndrome</td></tr><tr><td>1267</td><td>Botulism</td></tr><tr><td>127</td><td>Borjeson-Forssman-Lehmann syndrome</td></tr><tr><td>1270</td><td>Bowen-Conradi syndrome</td></tr><tr><td>1272</td><td>Aymé-Gripp syndrome</td></tr><tr><td>1275</td><td>Brachydactyly-elbow wrist dysplasia syndrome</td></tr><tr><td>1276</td><td>Brachydactyly-arterial hypertension syndrome</td></tr><tr><td>1277</td><td>Brachydactyly-mesomelia-intellectual disability-heart defects syndrome</td></tr><tr><td>1278</td><td>Brachydactyly-preaxial hallux varus syndrome</td></tr><tr><td>128</td><td>Diphyllobothriasis</td></tr><tr><td>129</td><td>Pseudopelade of Brocq</td></tr><tr><td>1292</td><td>Brachymorphism-onychodysplasia-dysphalangism syndrome</td></tr><tr><td>1295</td><td>Brachytelephalangy-dysmorphism-Kallmann syndrome</td></tr><tr><td>1296</td><td>Lambert syndrome</td></tr><tr><td>1297</td><td>Branchio-oculo-facial syndrome</td></tr><tr><td>1299</td><td>Branchioskeletogenital syndrome</td></tr><tr><td>13</td><td>6-pyruvoyl-tetrahydropterin synthase deficiency</td></tr><tr><td>130</td><td>Brugada syndrome</td></tr><tr><td>1300</td><td>Autosomal dominant popliteal pterygium syndrome</td></tr><tr><td>1302</td><td>Cryptogenic organizing pneumonia</td></tr><tr><td>1303</td><td>Bronchiolitis obliterans with obstructive pulmonary disease</td></tr><tr><td>1304</td><td>Brucellosis</td></tr><tr><td>1305</td><td>Feingold syndrome</td></tr><tr><td>1307</td><td>Distal limb deficiencies-micrognathia syndrome</td></tr><tr><td>1308</td><td>C syndrome</td></tr><tr><td>1309</td><td>Medullary sponge kidney</td></tr><tr><td>131</td><td>Budd-Chiari syndrome</td></tr><tr><td>1310</td><td>Caffey disease</td></tr><tr><td>1313</td><td>Infantile choroidocerebral calcification syndrome</td></tr><tr><td>1314</td><td>Symmetrical thalamic calcifications</td></tr><tr><td>1318</td><td>Campomelia, Cumming type</td></tr><tr><td>1319</td><td>Camptobrachydactyly</td></tr><tr><td>132</td><td>Butyrylcholinesterase deficiency</td></tr><tr><td>1320</td><td>Idiopathic camptocormia</td></tr><tr><td>1321</td><td>Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome</td></tr><tr><td>1323</td><td>Camptodactyly-joint contractures-facial skeletal defects syndrome</td></tr><tr><td>1325</td><td>Camptodactyly-taurinuria syndrome</td></tr><tr><td>1326</td><td>Camptodactyly syndrome, Guadalajara type 2</td></tr><tr><td>1327</td><td>Camptodactyly syndrome, Guadalajara type 1</td></tr><tr><td>1328</td><td>Camurati-Engelmann disease</td></tr><tr><td>1329</td><td>Complete atrioventricular septal defect</td></tr><tr><td>133</td><td>Chronic beryllium disease</td></tr><tr><td>1330</td><td>Partial atrioventricular septal defect</td></tr><tr><td>1331</td><td>Familial prostate cancer</td></tr><tr><td>1332</td><td>Medullary thyroid carcinoma</td></tr><tr><td>1333</td><td>Familial pancreatic carcinoma</td></tr><tr><td>1334</td><td>Chronic mucocutaneous candidiasis</td></tr><tr><td>1335</td><td>Pentalogy of Cantrell</td></tr><tr><td>1336</td><td>Hyperkeratosis-hyperpigmentation syndrome</td></tr><tr><td>1338</td><td>Heart defect-tongue hamartoma-polysyndactyly syndrome</td></tr><tr><td>134</td><td>Beta-ketothiolase deficiency</td></tr><tr><td>1340</td><td>Cardiofaciocutaneous syndrome</td></tr><tr><td>1342</td><td>Heart-hand syndrome type 3</td></tr><tr><td>1344</td><td>Atrial standstill</td></tr><tr><td>1345</td><td>Cardiomyopathy-cataract-hip spine disease syndrome</td></tr><tr><td>1349</td><td>Mitochondrial DNA-related cardiomyopathy and hearing loss</td></tr><tr><td>135</td><td>CACH syndrome</td></tr><tr><td>1350</td><td>Heart-hand syndrome type 2</td></tr><tr><td>1352</td><td>Atrioventricular defect-blepharophimosis-radial and anal defect syndrome</td></tr><tr><td>1354</td><td>Heart defects-limb shortening syndrome</td></tr><tr><td>1355</td><td>Congenital heart defect-round face-developmental delay syndrome</td></tr><tr><td>1358</td><td>Carey-Fineman-Ziter syndrome</td></tr><tr><td>1359</td><td>Carney complex</td></tr><tr><td>136</td><td>Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy</td></tr><tr><td>1361</td><td>Carnosinase deficiency</td></tr><tr><td>1366</td><td>Autosomal recessive palmoplantar keratoderma and congenital alopecia</td></tr><tr><td>1368</td><td>Cataract-ataxia-deafness syndrome</td></tr><tr><td>1369</td><td>Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome</td></tr><tr><td>1373</td><td>Cataract-aberrant oral frenula-growth delay syndrome</td></tr><tr><td>1375</td><td>Cataract-hypertrichosis-intellectual disability syndrome</td></tr><tr><td>137577</td><td>Neonatal hypoxic and ischemic brain injury</td></tr><tr><td>137583</td><td>Vulvar intraepithelial neoplasia</td></tr><tr><td>137593</td><td>Infectious epithelial keratitis</td></tr><tr><td>137596</td><td>Neurotrophic keratopathy</td></tr><tr><td>137599</td><td>Herpes simplex virus stromal keratitis</td></tr><tr><td>137602</td><td>Corneal endotheliitis</td></tr><tr><td>137605</td><td>Legius syndrome</td></tr><tr><td>137608</td><td>Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome</td></tr><tr><td>137617</td><td>Nephrogenic systemic fibrosis</td></tr><tr><td>137622</td><td>Intractable diarrhea-choanal atresia-eye anomalies syndrome</td></tr><tr><td>137625</td><td>Glycogen storage disease due to muscle and heart glycogen synthase deficiency</td></tr><tr><td>137628</td><td>Cardiac anomalies-heterotaxy syndrome</td></tr><tr><td>137631</td><td>Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome</td></tr><tr><td>137634</td><td>Overgrowth-macrocephaly-facial dysmorphism syndrome</td></tr><tr><td>137639</td><td>Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome</td></tr><tr><td>137667</td><td>Capillary malformation-arteriovenous malformation</td></tr><tr><td>137672</td><td>Pellucid marginal degeneration</td></tr><tr><td>137675</td><td>Histiocytoid cardiomyopathy</td></tr><tr><td>137678</td><td>Spondyloepiphyseal dysplasia with metatarsal shortening</td></tr><tr><td>137681</td><td>Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1</td></tr><tr><td>137686</td><td>Asherman syndrome</td></tr><tr><td>137698</td><td>Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk</td></tr><tr><td>1377</td><td>Cataract-microcornea syndrome</td></tr><tr><td>137754</td><td>Neurological conditions associated with aminoacylase 1 deficiency</td></tr><tr><td>137776</td><td>Lethal congenital contracture syndrome type 2</td></tr><tr><td>137783</td><td>Lethal congenital contracture syndrome type 3</td></tr><tr><td>137810</td><td>Nodular cutaneous amyloidosis</td></tr><tr><td>137814</td><td>Macular amyloidosis</td></tr><tr><td>137817</td><td>Arachnoiditis</td></tr><tr><td>137820</td><td>Extrapelvic endometriosis</td></tr><tr><td>137831</td><td>X-linked intellectual disability-cerebellar hypoplasia syndrome</td></tr><tr><td>137834</td><td>Frank-Ter Haar syndrome</td></tr><tr><td>137839</td><td>Lemierre syndrome</td></tr><tr><td>137867</td><td>Madras motor neuron disease</td></tr><tr><td>137888</td><td>Auriculocondylar syndrome</td></tr><tr><td>137893</td><td>Male infertility due to large-headed multiflagellar polyploid spermatozoa</td></tr><tr><td>137898</td><td>Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome</td></tr><tr><td>137908</td><td>Hypotonia with lactic acidemia and hyperammonemia</td></tr><tr><td>137914</td><td>Choanal atresia</td></tr><tr><td>137917</td><td>Choanal atresia, unilateral</td></tr><tr><td>137920</td><td>Choanal atresia, bilateral</td></tr><tr><td>137926</td><td>Primary laryngeal lymphangioma</td></tr><tr><td>137929</td><td>Neonatal brainstem dysfunction</td></tr><tr><td>137932</td><td>Congenital laryngeal palsy</td></tr><tr><td>137935</td><td>Laryngotracheal angioma</td></tr><tr><td>138</td><td>CHARGE syndrome</td></tr><tr><td>1380</td><td>Cataract-nephropathy-encephalopathy syndrome</td></tr><tr><td>1381</td><td>Cataract-intellectual disability-anal atresia-urinary defects syndrome</td></tr><tr><td>1383</td><td>Cataract-deafness-hypogonadism syndrome</td></tr><tr><td>1387</td><td>Cataract-intellectual disability-hypogonadism syndrome</td></tr><tr><td>1388</td><td>Catel-Manzke syndrome</td></tr><tr><td>1389</td><td>Cortical blindness-intellectual disability-polydactyly syndrome</td></tr><tr><td>139</td><td>CHILD syndrome</td></tr><tr><td>1390</td><td>Night blindness-skeletal anomalies-dysmorphism syndrome</td></tr><tr><td>1393</td><td>Cerebrocostomandibular syndrome</td></tr><tr><td>139396</td><td>X-linked cerebral adrenoleukodystrophy</td></tr><tr><td>139399</td><td>Adrenomyeloneuropathy</td></tr><tr><td>1394</td><td>Cerebrofaciothoracic dysplasia</td></tr><tr><td>139402</td><td>Drug reaction with eosinophilia and systemic symptoms</td></tr><tr><td>139406</td><td>Encephalopathy due to prosaposin deficiency</td></tr><tr><td>139411</td><td>Carney triad</td></tr><tr><td>139414</td><td>Congenital panfollicular nevus</td></tr><tr><td>139417</td><td>Acute transverse myelitis</td></tr><tr><td>139423</td><td>Idiopathic acute transverse myelitis</td></tr><tr><td>139426</td><td>Perioral myoclonia with absences</td></tr><tr><td>139431</td><td>Jeavons syndrome</td></tr><tr><td>139436</td><td>Multicentric reticulohistiocytosis</td></tr><tr><td>139441</td><td>Hypomyelination with atrophy of basal ganglia and cerebellum</td></tr><tr><td>139444</td><td>Leukoencephalopathy with bilateral anterior temporal lobe cysts</td></tr><tr><td>139447</td><td>Progressive cavitating leukoencephalopathy</td></tr><tr><td>139450</td><td>Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome</td></tr><tr><td>139455</td><td>Autosomal recessive bestrophinopathy</td></tr><tr><td>139466</td><td>SERKAL syndrome</td></tr><tr><td>139471</td><td>Microphthalmia with brain and digit anomalies</td></tr><tr><td>139474</td><td>17q11.2 microduplication syndrome</td></tr><tr><td>139480</td><td>Autosomal recessive spastic paraplegia type 39</td></tr><tr><td>139485</td><td>Autosomal recessive ataxia due to ubiquinone deficiency</td></tr><tr><td>139507</td><td>Dietary iron overload disease</td></tr><tr><td>139512</td><td>Neuropathy with hearing impairment</td></tr><tr><td>139515</td><td>Charcot-Marie-Tooth disease type 4J</td></tr><tr><td>139518</td><td>Distal hereditary motor neuropathy type 1</td></tr><tr><td>139525</td><td>Distal hereditary motor neuropathy type 2</td></tr><tr><td>139536</td><td>Distal hereditary motor neuropathy type 5</td></tr><tr><td>139547</td><td>Distal spinal muscular atrophy type 3</td></tr><tr><td>139552</td><td>Distal hereditary motor neuropathy, Jerash type</td></tr><tr><td>139557</td><td>X-linked distal spinal muscular atrophy type 3</td></tr><tr><td>139564</td><td>Hereditary sensory and autonomic neuropathy type 1B</td></tr><tr><td>139573</td><td>Hereditary sensory and autonomic neuropathy with deafness and global delay</td></tr><tr><td>139578</td><td>Mutilating hereditary sensory neuropathy with spastic paraplegia</td></tr><tr><td>139583</td><td>X-linked hereditary sensory and autonomic neuropathy with deafness</td></tr><tr><td>139589</td><td>Distal hereditary motor neuropathy type 7</td></tr><tr><td>1397</td><td>Hydrocephaly-cerebellar agenesis syndrome</td></tr><tr><td>1398</td><td>Isolated cerebellar agenesis</td></tr><tr><td>1399</td><td>Richards-Rundle syndrome</td></tr><tr><td>14</td><td>Abetalipoproteinemia</td></tr><tr><td>140</td><td>Campomelic dysplasia</td></tr><tr><td>1401</td><td>CHAND syndrome</td></tr><tr><td>140286</td><td>Secondary hypoparathyroidism due to impaired parathormon secretion</td></tr><tr><td>140436</td><td>Primary intraosseous venous malformation</td></tr><tr><td>140481</td><td>Autosomal dominant slowed nerve conduction velocity</td></tr><tr><td>1406</td><td>Charlie M syndrome</td></tr><tr><td>140896</td><td>Severe acute respiratory syndrome</td></tr><tr><td>140905</td><td>Hyperlipidemia due to hepatic triacylglycerol lipase deficiency</td></tr><tr><td>140908</td><td>Brachydactyly type B2</td></tr><tr><td>140917</td><td>Stapes ankylosis with broad thumbs and toes</td></tr><tr><td>140922</td><td>Titin-related limb-girdle muscular dystrophy R10</td></tr><tr><td>140927</td><td>Benign familial neonatal-infantile seizures</td></tr><tr><td>140933</td><td>Linear atrophoderma of Moulin</td></tr><tr><td>140936</td><td>Lelis syndrome</td></tr><tr><td>140941</td><td>Short stature due to primary acid-labile subunit deficiency</td></tr><tr><td>140944</td><td>CLOVES syndrome</td></tr><tr><td>140949</td><td>Low-flow priapism</td></tr><tr><td>140952</td><td>Syndactyly-telecanthus-anogenital and renal malformations syndrome</td></tr><tr><td>140957</td><td>Autosomal dominant macrothrombocytopenia</td></tr><tr><td>140963</td><td>Bilateral microtia-deafness-cleft palate syndrome</td></tr><tr><td>140966</td><td>Palmoplantar keratoderma, Nagashima type</td></tr><tr><td>140969</td><td>Saldino-Mainzer syndrome</td></tr><tr><td>140976</td><td>RHYNS syndrome</td></tr><tr><td>140989</td><td>Primary angiitis of the central nervous system</td></tr><tr><td>141</td><td>Canavan disease</td></tr><tr><td>1410</td><td>Uncombable hair syndrome</td></tr><tr><td>141000</td><td>Orofaciodigital syndrome type 11</td></tr><tr><td>141007</td><td>Orofaciodigital syndrome type 9</td></tr><tr><td>141013</td><td>First branchial cleft anomaly</td></tr><tr><td>141022</td><td>Second branchial cleft anomaly</td></tr><tr><td>141030</td><td>Third branchial cleft anomaly</td></tr><tr><td>141037</td><td>Fourth branchial cleft anomaly</td></tr><tr><td>141046</td><td>Cervical dermoid cyst</td></tr><tr><td>141051</td><td>Facial dermoid cyst</td></tr><tr><td>141061</td><td>Commissural lip fistula</td></tr><tr><td>141064</td><td>Lower lip fistula</td></tr><tr><td>141067</td><td>Cervicofacial fibrochondroma</td></tr><tr><td>141071</td><td>Digestive duplication cyst of the tongue</td></tr><tr><td>141074</td><td>External auditory canal aplasia/hypoplasia</td></tr><tr><td>141077</td><td>Epignathus</td></tr><tr><td>141083</td><td>Nasolacrimal duct cyst</td></tr><tr><td>141091</td><td>Polyrrhinia</td></tr><tr><td>141096</td><td>Supernumerary nostril</td></tr><tr><td>141099</td><td>Proboscis lateralis</td></tr><tr><td>141103</td><td>Nasal dermoid cyst</td></tr><tr><td>141107</td><td>Nasopharyngeal teratoma</td></tr><tr><td>141112</td><td>Nasal glial heterotopia</td></tr><tr><td>141115</td><td>Nasal ganglioglioma</td></tr><tr><td>141118</td><td>Nasal encephalocele</td></tr><tr><td>141121</td><td>Congenital subglottic stenosis</td></tr><tr><td>141124</td><td>Congenital laryngeal cyst</td></tr><tr><td>141127</td><td>Congenital tracheal stenosis</td></tr><tr><td>141132</td><td>Oculo-auriculo-vertebral spectrum</td></tr><tr><td>141145</td><td>Hemifacial hyperplasia</td></tr><tr><td>141148</td><td>Hemifacial myohyperplasia</td></tr><tr><td>141152</td><td>Isolated congenital hypoglossia/aglossia</td></tr><tr><td>141163</td><td>Glossopalatine ankylosis</td></tr><tr><td>141168</td><td>Frontonasal arteriovenous malformation</td></tr><tr><td>141171</td><td>Maxillary arteriovenous malformation</td></tr><tr><td>141174</td><td>Mandibular arteriovenous malformation</td></tr><tr><td>141179</td><td>Non-involuting congenital hemangioma</td></tr><tr><td>141184</td><td>Rapidly involuting congenital hemangioma</td></tr><tr><td>141194</td><td>Cerebrofacial arteriovenous metameric syndrome type 1</td></tr><tr><td>141199</td><td>Cerebrofacial arteriovenous metameric syndrome type 3</td></tr><tr><td>1412</td><td>Tarsal-carpal coalition syndrome</td></tr><tr><td>141209</td><td>Diffuse lymphatic malformation</td></tr><tr><td>141214</td><td>Isolated congenital syngnathia</td></tr><tr><td>141219</td><td>Nasal dorsum fistula</td></tr><tr><td>141239</td><td>Median cleft of the upper lip and maxilla</td></tr><tr><td>141242</td><td>Paramedian nasal cleft</td></tr><tr><td>141258</td><td>Tessier number 4 facial cleft</td></tr><tr><td>141261</td><td>Tessier number 5 facial cleft</td></tr><tr><td>141265</td><td>Tessier number 6 facial cleft</td></tr><tr><td>141276</td><td>Tessier number 7 facial cleft</td></tr><tr><td>141288</td><td>Midline cervical cleft</td></tr><tr><td>141291</td><td>Cleft lip and alveolus</td></tr><tr><td>141327</td><td>Orofaciodigital syndrome type 12</td></tr><tr><td>141330</td><td>Orofaciodigital syndrome type 13</td></tr><tr><td>141333</td><td>Biemond syndrome type 2</td></tr><tr><td>1414</td><td>Cholestasis-lymphedema syndrome</td></tr><tr><td>1415</td><td>Cholestasis-pigmentary retinopathy-cleft palate syndrome</td></tr><tr><td>1416</td><td>Familial calcium pyrophosphate deposition</td></tr><tr><td>142</td><td>Anaplastic thyroid carcinoma</td></tr><tr><td>1422</td><td>Chondrodysplasia-difference of sex development syndrome</td></tr><tr><td>1423</td><td>Lethal recessive chondrodysplasia</td></tr><tr><td>1425</td><td>Desbuquois syndrome</td></tr><tr><td>1426</td><td>Greenberg dysplasia</td></tr><tr><td>1427</td><td>Otospondylomegaepiphyseal dysplasia</td></tr><tr><td>1429</td><td>Benign hereditary chorea</td></tr><tr><td>143</td><td>Parathyroid carcinoma</td></tr><tr><td>1433</td><td>Choroidal atrophy-alopecia syndrome</td></tr><tr><td>1435</td><td>Xq21 microdeletion syndrome</td></tr><tr><td>1436</td><td>X-linked skeletal dysplasia-intellectual disability syndrome</td></tr><tr><td>1437</td><td>Ring chromosome 1 syndrome</td></tr><tr><td>1438</td><td>Ring chromosome 10 syndrome</td></tr><tr><td>1439</td><td>Ring chromosome 12 syndrome</td></tr><tr><td>144</td><td>Lynch syndrome</td></tr><tr><td>1440</td><td>Ring chromosome 14 syndrome</td></tr><tr><td>1441</td><td>Ring chromosome 17 syndrome</td></tr><tr><td>1442</td><td>Ring chromosome 18 syndrome</td></tr><tr><td>1443</td><td>Ring chromosome 19 syndrome</td></tr><tr><td>1444</td><td>Ring chromosome 20 syndrome</td></tr><tr><td>1445</td><td>Ring chromosome 21 syndrome</td></tr><tr><td>1446</td><td>Ring chromosome 22 syndrome</td></tr><tr><td>1447</td><td>Ring chromosome 4 syndrome</td></tr><tr><td>1448</td><td>Ring chromosome 6 syndrome</td></tr><tr><td>1449</td><td>Ring chromosome 7 syndrome</td></tr><tr><td>145</td><td>Hereditary breast and/or ovarian cancer syndrome</td></tr><tr><td>1450</td><td>Ring chromosome 8 syndrome</td></tr><tr><td>1451</td><td>CINCA syndrome</td></tr><tr><td>1452</td><td>Cleidocranial dysplasia</td></tr><tr><td>1453</td><td>Cleidorhizomelic syndrome</td></tr><tr><td>1454</td><td>Joubert syndrome with hepatic defect</td></tr><tr><td>1455</td><td>Autosomal dominant coarctation of aorta</td></tr><tr><td>1456</td><td>Atypical coarctation of aorta</td></tr><tr><td>1457</td><td>Aorta coarctation</td></tr><tr><td>1458</td><td>CODAS syndrome</td></tr><tr><td>1459</td><td>Celiac disease-epilepsy-cerebral calcification syndrome</td></tr><tr><td>146</td><td>Differentiated thyroid carcinoma</td></tr><tr><td>1460</td><td>Isolated complex III deficiency</td></tr><tr><td>1461</td><td>Criss-cross heart</td></tr><tr><td>1464</td><td>Univentricular heart</td></tr><tr><td>1465</td><td>Coffin-Siris syndrome</td></tr><tr><td>1466</td><td>COFS syndrome</td></tr><tr><td>1467</td><td>Cogan syndrome</td></tr><tr><td>147</td><td>Carbamoyl-phosphate synthetase 1 deficiency</td></tr><tr><td>1471</td><td>Coloboma of macula-brachydactyly type B syndrome</td></tr><tr><td>1473</td><td>Uveal coloboma-cleft lip and palate-intellectual disability</td></tr><tr><td>1475</td><td>Renal coloboma syndrome</td></tr><tr><td>1478</td><td>Interatrial communication</td></tr><tr><td>1479</td><td>Atrial septal defect-atrioventricular conduction defects syndrome</td></tr><tr><td>1482</td><td>Gonococcal conjunctivitis</td></tr><tr><td>1484</td><td>Contractures-ectodermal dysplasia-cleft lip/palate syndrome</td></tr><tr><td>1485</td><td>Arthrogryposis-hyperkeratosis syndrome, lethal form</td></tr><tr><td>1486</td><td>Lethal congenital contracture syndrome type 1</td></tr><tr><td>1487</td><td>Cooks syndrome</td></tr><tr><td>1488</td><td>Cooper-Jabs syndrome</td></tr><tr><td>1489</td><td>Whooping cough</td></tr><tr><td>1490</td><td>Corneal dystrophy-perceptive deafness syndrome</td></tr><tr><td>1493</td><td>Vici syndrome</td></tr><tr><td>1495</td><td>Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome</td></tr><tr><td>1496</td><td>Corpus callosum agenesis-neuronopathy syndrome</td></tr><tr><td>1497</td><td>X-linked complicated corpus callosum dysgenesis</td></tr><tr><td>15</td><td>Achondroplasia</td></tr><tr><td>150</td><td>Nasopharyngeal carcinoma</td></tr><tr><td>1501</td><td>Adrenocortical carcinoma</td></tr><tr><td>1506</td><td>Thin ribs-tubular bones-dysmorphism syndrome</td></tr><tr><td>1507</td><td>Autosomal recessive Robinow syndrome</td></tr><tr><td>1508</td><td>Coxoauricular syndrome</td></tr><tr><td>1509</td><td>Coxopodopatellar syndrome</td></tr><tr><td>1512</td><td>Crane-Heise syndrome</td></tr><tr><td>1513</td><td>Craniodiaphyseal dysplasia</td></tr><tr><td>1514</td><td>Craniodigital-intellectual disability syndrome</td></tr><tr><td>1515</td><td>Cranioectodermal dysplasia</td></tr><tr><td>1516</td><td>Non-syndromic bilambdoid and sagittal craniosynostosis</td></tr><tr><td>1517</td><td>Cantú syndrome</td></tr><tr><td>1519</td><td>SPECC1L-related hypertelorism syndrome</td></tr><tr><td>1520</td><td>Craniofrontonasal dysplasia</td></tr><tr><td>1521</td><td>Craniofrontonasal dysplasia-Poland anomaly syndrome</td></tr><tr><td>1522</td><td>Craniometaphyseal dysplasia</td></tr><tr><td>1524</td><td>Craniomicromelic syndrome</td></tr><tr><td>1525</td><td>Cranio-osteoarthropathy</td></tr><tr><td>1527</td><td>Craniosynostosis, Philadelphia type</td></tr><tr><td>1528</td><td>Craniotelencephalic dysplasia</td></tr><tr><td>1529</td><td>Craniofacial-deafness-hand syndrome</td></tr><tr><td>1532</td><td>Gómez-López-Hernández syndrome</td></tr><tr><td>1538</td><td>Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome</td></tr><tr><td>154</td><td>Familial isolated dilated cardiomyopathy</td></tr><tr><td>1540</td><td>Jackson-Weiss syndrome</td></tr><tr><td>1541</td><td>Craniosynostosis, Boston type</td></tr><tr><td>1544</td><td>Benign focal seizures of adolescence</td></tr><tr><td>1545</td><td>Crisponi syndrome</td></tr><tr><td>1546</td><td>Cryptococcosis</td></tr><tr><td>1547</td><td>Cryptomicrotia-brachydactyly-excess fingertip arch syndrome</td></tr><tr><td>1548</td><td>Cryptorchidism-arachnodactyly-intellectual disability syndrome</td></tr><tr><td>1551</td><td>Familial benign copper deficiency</td></tr><tr><td>1552</td><td>Currarino syndrome</td></tr><tr><td>1553</td><td>Curry-Jones syndrome</td></tr><tr><td>1555</td><td>Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome</td></tr><tr><td>1556</td><td>Cutis marmorata telangiectatica congenita</td></tr><tr><td>155838</td><td>Pinnae fistula or cyst</td></tr><tr><td>155878</td><td>Submucosal cleft palate</td></tr><tr><td>155884</td><td>Coloboma of superior eyelid</td></tr><tr><td>155889</td><td>Coloboma of inferior eyelid</td></tr><tr><td>156</td><td>Carnitine palmitoyl transferase 1A deficiency</td></tr><tr><td>1560</td><td>Cysticercosis</td></tr><tr><td>1561</td><td>Fatal infantile cytochrome C oxidase deficiency</td></tr><tr><td>1562</td><td>Dacryocystitis-osteopoikilosis syndrome</td></tr><tr><td>1563</td><td>Dahlberg-Borer-Newcomer syndrome</td></tr><tr><td>1566</td><td>Dandy-Walker malformation-postaxial polydactyly syndrome</td></tr><tr><td>156728</td><td>Spondyloepimetaphyseal dysplasia, matrilin-3 type</td></tr><tr><td>156731</td><td>Dyssegmental dysplasia, Rolland-Desbuquois type</td></tr><tr><td>1568</td><td>X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome</td></tr><tr><td>157</td><td>Carnitine palmitoyltransferase II deficiency</td></tr><tr><td>1570</td><td>Symbrachydactyly of hands and feet</td></tr><tr><td>1571</td><td>Knobloch syndrome</td></tr><tr><td>1572</td><td>Common variable immunodeficiency</td></tr><tr><td>157215</td><td>Hereditary hypophosphatemic rickets with hypercalciuria</td></tr><tr><td>1573</td><td>Hypotrichosis with juvenile macular degeneration</td></tr><tr><td>1574</td><td>Retinal degeneration-nanophthalmos-glaucoma syndrome</td></tr><tr><td>157713</td><td>Congenital or early infantile CACH syndrome</td></tr><tr><td>157716</td><td>Late infantile CACH syndrome</td></tr><tr><td>157719</td><td>Juvenile or adult CACH syndrome</td></tr><tr><td>157769</td><td>Situs ambiguus</td></tr><tr><td>157791</td><td>Epithelioid hemangioendothelioma</td></tr><tr><td>157794</td><td>Hereditary mixed polyposis syndrome</td></tr><tr><td>157798</td><td>Serrated polyposis syndrome</td></tr><tr><td>1578</td><td>Pterin-4 alpha-carbinolamine dehydratase deficiency</td></tr><tr><td>157801</td><td>Mesoaxial synostotic syndactyly with phalangeal reduction</td></tr><tr><td>157808</td><td>Congenital pseudoarthrosis of the limbs</td></tr><tr><td>157820</td><td>Cold-induced sweating syndrome</td></tr><tr><td>157823</td><td>Klüver-Bucy syndrome</td></tr><tr><td>157826</td><td>Congenital epulis</td></tr><tr><td>157832</td><td>Craniorhiny</td></tr><tr><td>157835</td><td>Paroxysmal hemicrania</td></tr><tr><td>157846</td><td>Neuroferritinopathy</td></tr><tr><td>157850</td><td>Pantothenate kinase-associated neurodegeneration</td></tr><tr><td>157941</td><td>Huntington disease-like 1</td></tr><tr><td>157946</td><td>Huntington disease-like 3</td></tr><tr><td>157949</td><td>Combined immunodeficiency with granulomatosis</td></tr><tr><td>157954</td><td>ANE syndrome</td></tr><tr><td>157962</td><td>Oculoauricular syndrome, Schorderet type</td></tr><tr><td>157965</td><td>SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>157973</td><td>Congenital muscular dystrophy due to LMNA mutation</td></tr><tr><td>157991</td><td>Generalized eruptive histiocytosis</td></tr><tr><td>157997</td><td>Benign cephalic histiocytosis</td></tr><tr><td>158</td><td>Systemic primary carnitine deficiency</td></tr><tr><td>1580</td><td>Distal deletion 10p</td></tr><tr><td>158000</td><td>Juvenile xanthogranuloma</td></tr><tr><td>158003</td><td>Xanthoma disseminatum</td></tr><tr><td>158008</td><td>Papular xanthoma</td></tr><tr><td>158011</td><td>Necrobiotic xanthogranuloma</td></tr><tr><td>158014</td><td>Rosaï-Dorfman disease</td></tr><tr><td>158019</td><td>Indeterminate cell histiocytosis</td></tr><tr><td>158022</td><td>Progressive nodular histiocytosis</td></tr><tr><td>158025</td><td>Hereditary progressive mucinous histiocytosis</td></tr><tr><td>158029</td><td>Sea-blue histiocytosis</td></tr><tr><td>158048</td><td>Hemophagocytic syndrome associated with an infection</td></tr><tr><td>158057</td><td>Acquired hemophagocytic lymphohistiocytosis associated with malignant disease</td></tr><tr><td>158061</td><td>Macrophage activation syndrome</td></tr><tr><td>1581</td><td>Non-distal deletion 10q</td></tr><tr><td>158668</td><td>Ectodermal dysplasia-skin fragility syndrome</td></tr><tr><td>158673</td><td>Localized dystrophic epidermolysis bullosa, acral form</td></tr><tr><td>158676</td><td>Localized dystrophic epidermolysis bullosa, nails only</td></tr><tr><td>158681</td><td>Epidermolysis bullosa simplex with circinate migratory erythema</td></tr><tr><td>158684</td><td>Epidermolysis bullosa simplex with pyloric atresia</td></tr><tr><td>158687</td><td>Lethal acantholytic erosive disorder</td></tr><tr><td>1587</td><td>Monosomy 13q14</td></tr><tr><td>158766</td><td>Typical urticaria pigmentosa</td></tr><tr><td>158769</td><td>Plaque-form urticaria pigmentosa</td></tr><tr><td>158772</td><td>Nodular urticaria pigmentosa</td></tr><tr><td>158775</td><td>Smoldering systemic mastocytosis</td></tr><tr><td>158778</td><td>Isolated bone marrow mastocytosis</td></tr><tr><td>159</td><td>Carnitine-acylcarnitine translocase deficiency</td></tr><tr><td>1590</td><td>Distal deletion 13q</td></tr><tr><td>1596</td><td>Distal deletion 15q</td></tr><tr><td>1597</td><td>Distal deletion 17q</td></tr><tr><td>1598</td><td>Monosomy 18p</td></tr><tr><td>16</td><td>Blue cone monochromatism</td></tr><tr><td>160</td><td>Castleman disease</td></tr><tr><td>1600</td><td>Monosomy 18q</td></tr><tr><td>160148</td><td>Cap polyposis</td></tr><tr><td>1606</td><td>1p36 deletion syndrome</td></tr><tr><td>1617</td><td>2q24 microdeletion syndrome</td></tr><tr><td>162</td><td>Cataract-glaucoma syndrome</td></tr><tr><td>1620</td><td>Distal deletion 3p</td></tr><tr><td>1621</td><td>3q13 microdeletion syndrome</td></tr><tr><td>162516</td><td>Isolated congenital nasal pyriform aperture stenosis</td></tr><tr><td>162526</td><td>Isolated congenital auditory ossicle malformation</td></tr><tr><td>1627</td><td>Deletion 5q35</td></tr><tr><td>163</td><td>Hereditary hyperferritinemia-cataract syndrome</td></tr><tr><td>163525</td><td>Subacute cutaneous lupus erythematosus</td></tr><tr><td>163596</td><td>Hb Bart's hydrops fetalis</td></tr><tr><td>1636</td><td>Distal monosomy 7q36</td></tr><tr><td>163634</td><td>Maffucci syndrome</td></tr><tr><td>163649</td><td>Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome</td></tr><tr><td>163654</td><td>Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome</td></tr><tr><td>163662</td><td>Spondyloepiphyseal dysplasia, Reardon type</td></tr><tr><td>163665</td><td>Spondyloepiphyseal dysplasia tarda, Kohn type</td></tr><tr><td>163668</td><td>Spondyloepiphyseal dysplasia, MacDermot type</td></tr><tr><td>163681</td><td>CNTNAP2-related developmental and epileptic encephalopathy</td></tr><tr><td>163684</td><td>Leukoencephalopathy-dystonia-motor neuropathy syndrome</td></tr><tr><td>163690</td><td>Hypotonia-cystinuria syndrome</td></tr><tr><td>163693</td><td>2p21 microdeletion syndrome</td></tr><tr><td>163696</td><td>Action myoclonus-renal failure syndrome</td></tr><tr><td>163699</td><td>Alveolar soft tissue sarcoma</td></tr><tr><td>163703</td><td>Febrile infection-related epilepsy syndrome</td></tr><tr><td>163708</td><td>Cryptogenic late-onset epileptic spasms</td></tr><tr><td>163717</td><td>Benign familial mesial temporal lobe epilepsy</td></tr><tr><td>163721</td><td>Rolandic epilepsy-speech dyspraxia syndrome</td></tr><tr><td>163727</td><td>Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome</td></tr><tr><td>163746</td><td>Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease</td></tr><tr><td>163921</td><td>Posttransplant acute limbic encephalitis</td></tr><tr><td>163927</td><td>Pustulosis palmaris et plantaris</td></tr><tr><td>163931</td><td>Acrodermatitis continua of Hallopeau</td></tr><tr><td>163934</td><td>Atopic keratoconjunctivitis</td></tr><tr><td>163937</td><td>X-linked intellectual disability, Najm type</td></tr><tr><td>163956</td><td>X-linked intellectual disability, Nascimento type</td></tr><tr><td>163961</td><td>X-linked cerebral-cerebellar-coloboma syndrome</td></tr><tr><td>163966</td><td>X-linked dominant chondrodysplasia, Chassaing-Lacombe type</td></tr><tr><td>163971</td><td>X-linked intellectual disability, Cilliers type</td></tr><tr><td>163976</td><td>X-linked intellectual disability, Van Esch type</td></tr><tr><td>163979</td><td>X-linked intellectual disability-craniofacioskeletal syndrome</td></tr><tr><td>163985</td><td>Hyperekplexia-epilepsy syndrome</td></tr><tr><td>1642</td><td>Distal deletion 9p</td></tr><tr><td>1643</td><td>Xp22.3 microdeletion syndrome</td></tr><tr><td>1646</td><td>Partial chromosome Y deletion</td></tr><tr><td>1647</td><td>Oculocerebrocutaneous syndrome</td></tr><tr><td>164726</td><td>Acute myeloid leukemia and myelodysplastic syndromes related to radiation</td></tr><tr><td>164736</td><td>Familial advanced sleep-phase syndrome</td></tr><tr><td>1652</td><td>Dent disease</td></tr><tr><td>1653</td><td>Dentin dysplasia</td></tr><tr><td>1655</td><td>Müllerian derivatives-lymphangiectasia-polydactyly syndrome</td></tr><tr><td>1656</td><td>Dermatitis herpetiformis</td></tr><tr><td>1657</td><td>Dermatoosteolysis, Kirghizian type</td></tr><tr><td>1658</td><td>Absence of fingerprints-congenital milia syndrome</td></tr><tr><td>165805</td><td>Familial mesial temporal lobe epilepsy with febrile seizures</td></tr><tr><td>1659</td><td>Dermatoleukodystrophy</td></tr><tr><td>165955</td><td>Wound myiasis</td></tr><tr><td>165958</td><td>Cavitary myiasis</td></tr><tr><td>165991</td><td>Exercise-induced hyperinsulinism</td></tr><tr><td>1660</td><td>Dermoodontodysplasia</td></tr><tr><td>166002</td><td>Multiple epiphyseal dysplasia due to collagen 9 anomaly</td></tr><tr><td>166011</td><td>Multiple epiphyseal dysplasia, Beighton type</td></tr><tr><td>166016</td><td>Multiple epiphyseal dysplasia, Lowry type</td></tr><tr><td>166024</td><td>Multiple epiphyseal dysplasia, Al-Gazali type</td></tr><tr><td>166029</td><td>Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia</td></tr><tr><td>166032</td><td>Multiple epiphyseal dysplasia, with miniepiphyses</td></tr><tr><td>166035</td><td>Brachydactyly-short stature-retinitis pigmentosa syndrome</td></tr><tr><td>166038</td><td>Metaphyseal chondrodysplasia, Kaitila type</td></tr><tr><td>166063</td><td>Pontocerebellar hypoplasia type 4</td></tr><tr><td>166073</td><td>Pontocerebellar hypoplasia type 6</td></tr><tr><td>166078</td><td>Von Willebrand disease type 1</td></tr><tr><td>166081</td><td>Von Willebrand disease type 2</td></tr><tr><td>166084</td><td>Von Willebrand disease type 2A</td></tr><tr><td>166087</td><td>Von Willebrand disease type 2B</td></tr><tr><td>166090</td><td>Von Willebrand disease type 2M</td></tr><tr><td>166093</td><td>Von Willebrand disease type 2N</td></tr><tr><td>166096</td><td>Von Willebrand disease type 3</td></tr><tr><td>1661</td><td>X-linked corneal dermoid</td></tr><tr><td>166100</td><td>Autosomal dominant otospondylomegaepiphyseal dysplasia</td></tr><tr><td>166105</td><td>FASTKD2-related infantile mitochondrial encephalomyopathy</td></tr><tr><td>166108</td><td>Intellectual disability, Birk-Barel type</td></tr><tr><td>166113</td><td>Bazex syndrome</td></tr><tr><td>166119</td><td>Isolated osteopoikilosis</td></tr><tr><td>1662</td><td>Restrictive dermopathy</td></tr><tr><td>166260</td><td>Dentinogenesis imperfecta type 2</td></tr><tr><td>166265</td><td>Dentinogenesis imperfecta type 3</td></tr><tr><td>166272</td><td>Odontochondrodysplasia</td></tr><tr><td>166277</td><td>Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia</td></tr><tr><td>166282</td><td>Familial sick sinus syndrome</td></tr><tr><td>166286</td><td>Porokeratotic eccrine ostial and dermal duct nevus</td></tr><tr><td>166291</td><td>Dirofilariasis</td></tr><tr><td>166299</td><td>Benign partial epilepsy of infancy with complex partial seizures</td></tr><tr><td>166302</td><td>Benign partial epilepsy with secondarily generalized seizures in infancy</td></tr><tr><td>166305</td><td>Benign infantile seizures associated with mild gastroenteritis</td></tr><tr><td>166308</td><td>Benign infantile focal epilepsy with midline spikes and waves during sleep</td></tr><tr><td>166409</td><td>Photosensitive epilepsy</td></tr><tr><td>166412</td><td>Hot water reflex epilepsy</td></tr><tr><td>166415</td><td>Audiogenic seizures</td></tr><tr><td>166418</td><td>Eating reflex epilepsy</td></tr><tr><td>166421</td><td>Orgasm-induced seizures</td></tr><tr><td>166424</td><td>Thinking seizures</td></tr><tr><td>166427</td><td>Startle epilepsy</td></tr><tr><td>166430</td><td>Micturation-induced seizures</td></tr><tr><td>166433</td><td>Reading seizures</td></tr><tr><td>1665</td><td>Sporadic fetal brain disruption sequence</td></tr><tr><td>1666</td><td>Dextrocardia</td></tr><tr><td>1667</td><td>Wolcott-Rallison syndrome</td></tr><tr><td>167</td><td>Chédiak-Higashi syndrome</td></tr><tr><td>1670</td><td>Chronic diarrhea with villous atrophy</td></tr><tr><td>1671</td><td>Split cord malformation type I</td></tr><tr><td>1672</td><td>Diencephalic syndrome</td></tr><tr><td>1675</td><td>Dihydropyrimidine dehydrogenase deficiency</td></tr><tr><td>1676</td><td>Idiopathic pulmonary artery dilatation</td></tr><tr><td>167635</td><td>Scleromyxedema</td></tr><tr><td>1677</td><td>Familial idiopathic dilatation of the right atrium</td></tr><tr><td>1679</td><td>Diphtheria</td></tr><tr><td>168</td><td>Loose anagen syndrome</td></tr><tr><td>1681</td><td>Diprosopus</td></tr><tr><td>1682</td><td>Arterial dissection-lentiginosis syndrome</td></tr><tr><td>168443</td><td>Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome</td></tr><tr><td>168451</td><td>Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome</td></tr><tr><td>168454</td><td>Spondyloepimetaphyseal dysplasia, Geneviève type</td></tr><tr><td>168486</td><td>Congenital neuronal ceroid lipofuscinosis</td></tr><tr><td>168491</td><td>Late infantile neuronal ceroid lipofuscinosis</td></tr><tr><td>1685</td><td>Distomatosis</td></tr><tr><td>168544</td><td>Spondylometaphyseal dysplasia, Golden type</td></tr><tr><td>168549</td><td>Axial spondylometaphyseal dysplasia</td></tr><tr><td>168552</td><td>Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome</td></tr><tr><td>168555</td><td>Spondylometaphyseal dysplasia, A4 type</td></tr><tr><td>168558</td><td>46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency</td></tr><tr><td>168563</td><td>46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome</td></tr><tr><td>168566</td><td>Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3</td></tr><tr><td>168569</td><td>H syndrome</td></tr><tr><td>168572</td><td>Native American myopathy</td></tr><tr><td>168577</td><td>Hereditary cryohydrocytosis with reduced stomatin</td></tr><tr><td>168583</td><td>Hereditary North American Indian childhood cirrhosis</td></tr><tr><td>168588</td><td>Hyperandrogenism due to cortisone reductase deficiency</td></tr><tr><td>168593</td><td>Sudden infant death-dysgenesis of the testes syndrome</td></tr><tr><td>168598</td><td>Methionine adenosyltransferase I/III deficiency</td></tr><tr><td>1686</td><td>Cardiac diverticulum</td></tr><tr><td>168601</td><td>Congenital enteropathy due to enteropeptidase deficiency</td></tr><tr><td>168606</td><td>Seborrhea-like dermatitis with psoriasiform elements</td></tr><tr><td>168612</td><td>Congenital deficiency in alpha-fetoprotein</td></tr><tr><td>168615</td><td>Hereditary persistence of alpha-fetoprotein</td></tr><tr><td>168621</td><td>Dysplasia of head of femur, Meyer type</td></tr><tr><td>168624</td><td>Familial scaphocephaly syndrome, McGillivray type</td></tr><tr><td>168629</td><td>Autosomal thrombocytopenia with normal platelets</td></tr><tr><td>168632</td><td>Generalized basaloid follicular hamartoma syndrome</td></tr><tr><td>168782</td><td>Childhood disintegrative disorder</td></tr><tr><td>168796</td><td>Heart-hand syndrome, Slovenian type</td></tr><tr><td>168811</td><td>Malignant peritoneal mesothelioma</td></tr><tr><td>168816</td><td>Peritoneal cystic mesothelioma</td></tr><tr><td>168829</td><td>Primary peritoneal carcinoma</td></tr><tr><td>168940</td><td>Chronic eosinophilic leukemia</td></tr><tr><td>168947</td><td>Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement</td></tr><tr><td>168950</td><td>Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement</td></tr><tr><td>168953</td><td>Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement</td></tr><tr><td>168960</td><td>Refractory anemia with excess blasts in transformation</td></tr><tr><td>168966</td><td>Composite lymphoma</td></tr><tr><td>168984</td><td>CLAPO syndrome</td></tr><tr><td>168999</td><td>Malignant melanoma of the mucosa</td></tr><tr><td>169</td><td>Ringed hair disease</td></tr><tr><td>169079</td><td>Cernunnos-XLF deficiency</td></tr><tr><td>169082</td><td>Combined immunodeficiency due to CD3gamma deficiency</td></tr><tr><td>169085</td><td>Susceptibility to respiratory infections associated with CD8alpha chain mutation</td></tr><tr><td>169090</td><td>Combined immunodeficiency due to CRAC channel dysfunction</td></tr><tr><td>169095</td><td>Severe combined immunodeficiency due to FOXN1 deficiency</td></tr><tr><td>169100</td><td>Immunodeficiency due to CD25 deficiency</td></tr><tr><td>169105</td><td>Good syndrome</td></tr><tr><td>169110</td><td>Immunoglobulin heavy chain deficiency</td></tr><tr><td>169139</td><td>Transient hypogammaglobulinemia of infancy</td></tr><tr><td>169142</td><td>Recurrent infection due to specific granule deficiency</td></tr><tr><td>169147</td><td>Immunodeficiency due to a classical component pathway complement deficiency</td></tr><tr><td>169150</td><td>Immunodeficiency due to a late component of complement deficiency</td></tr><tr><td>169154</td><td>T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency</td></tr><tr><td>169157</td><td>T-B+ severe combined immunodeficiency due to CD45 deficiency</td></tr><tr><td>169160</td><td>T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta</td></tr><tr><td>169186</td><td>Autosomal recessive centronuclear myopathy</td></tr><tr><td>169189</td><td>Autosomal dominant centronuclear myopathy</td></tr><tr><td>1692</td><td>Mosaic trisomy 1</td></tr><tr><td>169464</td><td>Primary CD59 deficiency</td></tr><tr><td>169467</td><td>Recurrent Neisseria infections due to factor D deficiency</td></tr><tr><td>1695</td><td>Non-distal duplication 10q</td></tr><tr><td>169793</td><td>Severe hemophilia B</td></tr><tr><td>169796</td><td>Moderate hemophilia B</td></tr><tr><td>169799</td><td>Mild hemophilia B</td></tr><tr><td>1698</td><td>Mosaic trisomy 12</td></tr><tr><td>169802</td><td>Severe hemophilia A</td></tr><tr><td>169805</td><td>Moderate hemophilia A</td></tr><tr><td>169808</td><td>Mild hemophilia A</td></tr><tr><td>1699</td><td>Trisomy 12p</td></tr><tr><td>17</td><td>Fatal infantile lactic acidosis with methylmalonic aciduria</td></tr><tr><td>170</td><td>Woolly hair</td></tr><tr><td>1702</td><td>Non-distal duplication 13q</td></tr><tr><td>1703</td><td>Mosaic trisomy 14</td></tr><tr><td>1705</td><td>Distal duplication 14q</td></tr><tr><td>1706</td><td>Mosaic trisomy 15</td></tr><tr><td>1707</td><td>Distal duplication 15q</td></tr><tr><td>1708</td><td>Mosaic trisomy 16</td></tr><tr><td>171</td><td>Primary sclerosing cholangitis</td></tr><tr><td>1711</td><td>Mosaic trisomy 17</td></tr><tr><td>171220</td><td>Rectal duplication</td></tr><tr><td>1713</td><td>17p11.2 microduplication syndrome</td></tr><tr><td>171430</td><td>Severe congenital nemaline myopathy</td></tr><tr><td>171433</td><td>Intermediate nemaline myopathy</td></tr><tr><td>171436</td><td>Typical nemaline myopathy</td></tr><tr><td>171439</td><td>Childhood-onset nemaline myopathy</td></tr><tr><td>171442</td><td>Adult-onset nemaline myopathy</td></tr><tr><td>171445</td><td>Muscle filaminopathy</td></tr><tr><td>1715</td><td>Trisomy 18p</td></tr><tr><td>1716</td><td>Distal duplication 18q</td></tr><tr><td>171607</td><td>X-linked spastic paraplegia type 34</td></tr><tr><td>171612</td><td>Autosomal dominant spastic paraplegia type 37</td></tr><tr><td>171617</td><td>Autosomal dominant spastic paraplegia type 38</td></tr><tr><td>171622</td><td>Autosomal recessive spastic paraplegia type 32</td></tr><tr><td>171629</td><td>Autosomal recessive spastic paraplegia type 35</td></tr><tr><td>171673</td><td>Limbal stem cell deficiency</td></tr><tr><td>171680</td><td>Lissencephaly due to TUBA1A mutation</td></tr><tr><td>171684</td><td>Idiopathic bilateral vestibulopathy</td></tr><tr><td>171690</td><td>Metabolic myopathy due to lactate transporter defect</td></tr><tr><td>171695</td><td>Parkinsonian-pyramidal syndrome</td></tr><tr><td>1717</td><td>Distal duplication 19q</td></tr><tr><td>171700</td><td>Diffuse panbronchiolitis</td></tr><tr><td>171703</td><td>Microcephaly-polymicrogyria-corpus callosum agenesis syndrome</td></tr><tr><td>171706</td><td>Short stature-delayed bone age due to thyroid hormone metabolism deficiency</td></tr><tr><td>171709</td><td>Male infertility due to globozoospermia</td></tr><tr><td>171719</td><td>Cutis laxa-Marfanoid syndrome</td></tr><tr><td>171723</td><td>White sponge nevus</td></tr><tr><td>171829</td><td>6q16 microdeletion syndrome</td></tr><tr><td>171839</td><td>Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome</td></tr><tr><td>171844</td><td>Blindness-scoliosis-arachnodactyly syndrome</td></tr><tr><td>171848</td><td>Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome</td></tr><tr><td>171851</td><td>MEDNIK syndrome</td></tr><tr><td>171863</td><td>Autosomal dominant spastic paraplegia type 42</td></tr><tr><td>171866</td><td>Spondyloepimetaphyseal dysplasia, aggrecan type</td></tr><tr><td>171871</td><td>Renal pseudohypoaldosteronism type 1</td></tr><tr><td>171876</td><td>Generalized pseudohypoaldosteronism type 1</td></tr><tr><td>171881</td><td>Cap myopathy</td></tr><tr><td>171886</td><td>Cylindrical spirals myopathy</td></tr><tr><td>171889</td><td>Myopathy with hexagonally cross-linked tubular arrays</td></tr><tr><td>171929</td><td>Trisomy 10p</td></tr><tr><td>172</td><td>Progressive familial intrahepatic cholestasis</td></tr><tr><td>1723</td><td>Mosaic trisomy 2</td></tr><tr><td>1724</td><td>Mosaic trisomy 20</td></tr><tr><td>1727</td><td>22q11.2 duplication syndrome</td></tr><tr><td>173</td><td>Cholera</td></tr><tr><td>1738</td><td>Trisomy 4p</td></tr><tr><td>174</td><td>Metaphyseal chondrodysplasia, Schmid type</td></tr><tr><td>1742</td><td>Trisomy 5p</td></tr><tr><td>1745</td><td>Distal duplication 6p</td></tr><tr><td>1747</td><td>Mosaic trisomy 7</td></tr><tr><td>175</td><td>Cartilage-hair hypoplasia</td></tr><tr><td>1752</td><td>Trisomy 8q</td></tr><tr><td>1756</td><td>Caudal duplication</td></tr><tr><td>1757</td><td>Fibular dimelia-diplopodia syndrome</td></tr><tr><td>1759</td><td>Thoraco-abdominal enteric duplication</td></tr><tr><td>1762</td><td>Proximal Xq28 duplication syndrome</td></tr><tr><td>1764</td><td>Familial dysautonomia</td></tr><tr><td>1765</td><td>Dyschondrosteosis-nephritis syndrome</td></tr><tr><td>1766</td><td>Dysequilibrium syndrome</td></tr><tr><td>1768</td><td>Familial caudal dysgenesis</td></tr><tr><td>177</td><td>Rhizomelic chondrodysplasia punctata</td></tr><tr><td>1770</td><td>XY type gonadal dysgenesis-associated anomalies syndrome</td></tr><tr><td>1772</td><td>45,X/46,XY mixed gonadal dysgenesis</td></tr><tr><td>1775</td><td>Dyskeratosis congenita</td></tr><tr><td>1777</td><td>Temtamy syndrome</td></tr><tr><td>1778</td><td>Facial dysmorphism-shawl scrotum-joint laxity syndrome</td></tr><tr><td>1779</td><td>Dysmorphism-cleft palate-loose skin syndrome</td></tr><tr><td>177901</td><td>Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1</td></tr><tr><td>177904</td><td>Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2</td></tr><tr><td>177907</td><td>Prader-Willi syndrome due to translocation</td></tr><tr><td>177910</td><td>Prader-Willi syndrome due to imprinting mutation</td></tr><tr><td>177926</td><td>Bleeding disorder in hemophilia A carriers</td></tr><tr><td>177929</td><td>Bleeding disorder in hemophilia B carriers</td></tr><tr><td>178</td><td>Chordoma</td></tr><tr><td>1780</td><td>Thakker-Donnai syndrome</td></tr><tr><td>178029</td><td>Central diabetes insipidus</td></tr><tr><td>178145</td><td>Moderate multiminicore disease with hand involvement</td></tr><tr><td>178148</td><td>Antenatal multiminicore disease with arthrogryposis multiplex congenita</td></tr><tr><td>1782</td><td>Dysosteosclerosis</td></tr><tr><td>178303</td><td>8q22.1 microdeletion syndrome</td></tr><tr><td>178307</td><td>Reticulate acropigmentation of Kitamura</td></tr><tr><td>178311</td><td>Isolated sternocostoclavicular hyperostosis</td></tr><tr><td>178315</td><td>Undifferentiated embryonal sarcoma of the liver</td></tr><tr><td>178320</td><td>Acute lung injury</td></tr><tr><td>178333</td><td>Åland Islands eye disease</td></tr><tr><td>178338</td><td>UV-sensitive syndrome</td></tr><tr><td>178342</td><td>Inflammatory myofibroblastic tumor</td></tr><tr><td>178345</td><td>Aromatase excess syndrome</td></tr><tr><td>178355</td><td>Smith-McCort dysplasia</td></tr><tr><td>178364</td><td>Syndromic microphthalmia type 5</td></tr><tr><td>178377</td><td>Osteosclerosis-developmental delay-craniosynostosis syndrome</td></tr><tr><td>178382</td><td>Congenital vertical talus</td></tr><tr><td>178389</td><td>Osteopetrosis-hypogammaglobulinemia syndrome</td></tr><tr><td>178396</td><td>Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation</td></tr><tr><td>1784</td><td>Acrofrontofacionasal dysostosis</td></tr><tr><td>178400</td><td>Distal myopathy with anterior tibial onset</td></tr><tr><td>178461</td><td>X-linked myopathy with postural muscle atrophy</td></tr><tr><td>178464</td><td>Hereditary myopathy with early respiratory failure</td></tr><tr><td>178469</td><td>Autosomal dominant non-syndromic intellectual disability</td></tr><tr><td>178475</td><td>Wound botulism</td></tr><tr><td>178478</td><td>Infant botulism</td></tr><tr><td>178481</td><td>Intestinal botulism</td></tr><tr><td>178487</td><td>Adult intestinal botulism</td></tr><tr><td>178493</td><td>Myopic macular degeneration</td></tr><tr><td>178506</td><td>Brain calcification, Rajab type</td></tr><tr><td>178509</td><td>Perry syndrome</td></tr><tr><td>178512</td><td>Folliculotropic mycosis fungoides</td></tr><tr><td>178517</td><td>Localized pagetoid reticulosis</td></tr><tr><td>178522</td><td>Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma</td></tr><tr><td>178528</td><td>Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma</td></tr><tr><td>178533</td><td>Primary cutaneous gamma/delta-positive T-cell lymphoma</td></tr><tr><td>178536</td><td>Primary cutaneous marginal zone B-cell lymphoma</td></tr><tr><td>178540</td><td>Primary cutaneous follicle center lymphoma</td></tr><tr><td>178544</td><td>Primary cutaneous diffuse large B-cell lymphoma, leg type</td></tr><tr><td>1786</td><td>Acrofacial dysostosis, Catania type</td></tr><tr><td>1787</td><td>Acrofacial dysostosis, Palagonia type</td></tr><tr><td>1788</td><td>Acrofacial dysostosis, Rodríguez type</td></tr><tr><td>179</td><td>Birdshot chorioretinopathy</td></tr><tr><td>1790</td><td>Hypomandibular faciocranial dysostosis</td></tr><tr><td>1791</td><td>Frontofacionasal dysplasia</td></tr><tr><td>1794</td><td>Oculomaxillofacial dysostosis</td></tr><tr><td>179490</td><td>Obesity due to congenital leptin resistance</td></tr><tr><td>179494</td><td>Obesity due to leptin receptor gene deficiency</td></tr><tr><td>1795</td><td>Peripheral dysostosis</td></tr><tr><td>1797</td><td>Autosomal dominant spondylocostal dysostosis</td></tr><tr><td>1798</td><td>Dysostosis, Stanescu type</td></tr><tr><td>1799</td><td>Familial developmental dysphasia</td></tr><tr><td>18</td><td>Distal renal tubular acidosis</td></tr><tr><td>180</td><td>Choroideremia</td></tr><tr><td>180074</td><td>True unicornuate uterus</td></tr><tr><td>180079</td><td>Pseudounicornuate uterus</td></tr><tr><td>180086</td><td>Didelphys uterus</td></tr><tr><td>1801</td><td>Kyphomelic dysplasia</td></tr><tr><td>180106</td><td>Bicervical bicornuate uterus and blind hemivagina</td></tr><tr><td>180111</td><td>Bicervical bicornuate uterus with patent cervix and vagina</td></tr><tr><td>180114</td><td>Unicervical bicornuate uterus</td></tr><tr><td>180126</td><td>Complete septate uterus</td></tr><tr><td>180129</td><td>Partial septate uterus</td></tr><tr><td>180139</td><td>Uterine hypoplasia</td></tr><tr><td>180142</td><td>Absence of uterine body</td></tr><tr><td>180145</td><td>Uterine cervical aplasia and agenesis</td></tr><tr><td>180154</td><td>Septate vagina</td></tr><tr><td>180157</td><td>Longitudinal vaginal septum</td></tr><tr><td>180160</td><td>Transverse vaginal septum</td></tr><tr><td>180176</td><td>Familial juvenile hypertrophy of the breast</td></tr><tr><td>180182</td><td>Supernumerary breasts</td></tr><tr><td>180188</td><td>Isolated congenital breast hypoplasia/aplasia</td></tr><tr><td>1802</td><td>Ghosal hematodiaphyseal dysplasia</td></tr><tr><td>180226</td><td>Embryonal carcinoma</td></tr><tr><td>180229</td><td>Polyembryoma</td></tr><tr><td>180234</td><td>Mixed germ cell tumor</td></tr><tr><td>180237</td><td>Benign tumor of fallopian tubes</td></tr><tr><td>180242</td><td>Malignant tumor of fallopian tubes</td></tr><tr><td>180247</td><td>Vaginal carcinoma</td></tr><tr><td>180261</td><td>Phyllodes tumor of the breast</td></tr><tr><td>180267</td><td>Giant adenofibroma of the breast</td></tr><tr><td>180275</td><td>Paget disease of the nipple</td></tr><tr><td>1803</td><td>Thoracomelic dysplasia</td></tr><tr><td>1806</td><td>Ectodermal dysplasia-blindness syndrome</td></tr><tr><td>1807</td><td>Focal facial dermal dysplasia type III</td></tr><tr><td>1808</td><td>Hidrotic ectodermal dysplasia, Christianson-Fourie type</td></tr><tr><td>1809</td><td>Hidrotic ectodermal dysplasia, Halal type</td></tr><tr><td>181</td><td>X-linked hypohidrotic ectodermal dysplasia</td></tr><tr><td>1810</td><td>Autosomal dominant hypohidrotic ectodermal dysplasia</td></tr><tr><td>1811</td><td>Odontomicronychial dysplasia</td></tr><tr><td>1812</td><td>Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome</td></tr><tr><td>1816</td><td>Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome</td></tr><tr><td>1818</td><td>Ectodermal dysplasia, trichoodontoonychial type</td></tr><tr><td>182</td><td>Chromomycosis</td></tr><tr><td>182050</td><td>MYH9-related disease</td></tr><tr><td>182127</td><td>Extragonadal germinoma</td></tr><tr><td>1822</td><td>Dysplasia epiphysealis hemimelica</td></tr><tr><td>1824</td><td>Lowry-Wood syndrome</td></tr><tr><td>1825</td><td>Epiphyseal dysplasia-hearing loss-dysmorphism syndrome</td></tr><tr><td>1826</td><td>Frontometaphyseal dysplasia</td></tr><tr><td>1827</td><td>Acromelic frontonasal dysplasia</td></tr><tr><td>183</td><td>Eosinophilic granulomatosis with polyangiitis</td></tr><tr><td>1830</td><td>Schimke immuno-osseous dysplasia</td></tr><tr><td>1832</td><td>Lethal osteosclerotic bone dysplasia</td></tr><tr><td>1834</td><td>Axial mesodermal dysplasia spectrum</td></tr><tr><td>1836</td><td>Mesomelic dysplasia, Kantaputra type</td></tr><tr><td>183663</td><td>Hyper-IgM syndrome with susceptibility to opportunistic infections</td></tr><tr><td>183666</td><td>Hyper-IgM syndrome without susceptibility to opportunistic infections</td></tr><tr><td>183675</td><td>Recurrent infections associated with rare immunoglobulin isotypes deficiency</td></tr><tr><td>183678</td><td>Hermansky-Pudlak syndrome due to AP-3 deficiency</td></tr><tr><td>1837</td><td>Ulna metaphyseal dysplasia syndrome</td></tr><tr><td>183707</td><td>Neutrophil immunodeficiency syndrome</td></tr><tr><td>183713</td><td>Bacterial susceptibility due to TLR signaling pathway deficiency</td></tr><tr><td>1839</td><td>Hereditary mucoepithelial dysplasia</td></tr><tr><td>184</td><td>Cherubism</td></tr><tr><td>1842</td><td>Bone dysplasia, lethal Holmgren type</td></tr><tr><td>1848</td><td>Renal agenesis, bilateral</td></tr><tr><td>185</td><td>Scimitar syndrome</td></tr><tr><td>1851</td><td>Multicystic dysplastic kidney</td></tr><tr><td>1852</td><td>X-linked retinal dysplasia</td></tr><tr><td>1855</td><td>Spondyloenchondrodysplasia</td></tr><tr><td>1856</td><td>Spondyloperipheral dysplasia-short ulna syndrome</td></tr><tr><td>1858</td><td>Skeletal dysplasia-epilepsy-short stature syndrome</td></tr><tr><td>186</td><td>Primary biliary cholangitis</td></tr><tr><td>1860</td><td>Thanatophoric dysplasia type 1</td></tr><tr><td>1861</td><td>Thoracic dysplasia-hydrocephalus syndrome</td></tr><tr><td>1865</td><td>Dyssegmental dysplasia, Silverman-Handmaker type</td></tr><tr><td>1867</td><td>Hereditary bullous dystrophy, macular type</td></tr><tr><td>1871</td><td>Progressive cone dystrophy</td></tr><tr><td>1872</td><td>Cone rod dystrophy</td></tr><tr><td>1873</td><td>Jalili syndrome</td></tr><tr><td>1875</td><td>Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome</td></tr><tr><td>1876</td><td>Oculogastrointestinal muscular dystrophy</td></tr><tr><td>1878</td><td>TRIM32-related limb-girdle muscular dystrophy R8</td></tr><tr><td>1879</td><td>Melorheostosis with osteopoikilosis</td></tr><tr><td>188</td><td>Systemic capillary leak syndrome</td></tr><tr><td>1880</td><td>Ebstein malformation of the tricuspid valve</td></tr><tr><td>1882</td><td>Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</td></tr><tr><td>1883</td><td>Ectodermal dysplasia-sensorineural deafness syndrome</td></tr><tr><td>1884</td><td>Ectopia lentis-chorioretinal dystrophy-myopia syndrome</td></tr><tr><td>1885</td><td>Isolated ectopia lentis</td></tr><tr><td>189</td><td>Hidrotic ectodermal dysplasia</td></tr><tr><td>1891</td><td>Intellectual disability-spasticity-ectrodactyly syndrome</td></tr><tr><td>1892</td><td>Ectrodactyly-polydactyly syndrome</td></tr><tr><td>189427</td><td>Cushing syndrome due to bilateral macronodular adrenocortical disease</td></tr><tr><td>189466</td><td>Familial isolated hypoparathyroidism due to impaired PTH secretion</td></tr><tr><td>1895</td><td>Edinburgh malformation syndrome</td></tr><tr><td>1896</td><td>EEC syndrome</td></tr><tr><td>1897</td><td>EEM syndrome</td></tr><tr><td>1899</td><td>Arthrochalasia Ehlers-Danlos syndrome</td></tr><tr><td>190</td><td>Coats disease</td></tr><tr><td>1900</td><td>Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency</td></tr><tr><td>1901</td><td>Dermatosparaxis Ehlers-Danlos syndrome</td></tr><tr><td>1902</td><td>Ehrlichiosis</td></tr><tr><td>1906</td><td>Fetal valproate spectrum disorder</td></tr><tr><td>1908</td><td>Aminopterin/methotrexate embryofetopathy</td></tr><tr><td>1909</td><td>Indomethacin embryofetopathy</td></tr><tr><td>191</td><td>Cockayne syndrome</td></tr><tr><td>1910</td><td>Fetal iodine syndrome</td></tr><tr><td>1911</td><td>Cocaine embryofetopathy</td></tr><tr><td>1912</td><td>Fetal hydantoin syndrome</td></tr><tr><td>1913</td><td>Fetal trimethadione syndrome</td></tr><tr><td>1914</td><td>Vitamin K antagonist embryofetopathy</td></tr><tr><td>1915</td><td>Fetal alcohol syndrome</td></tr><tr><td>1916</td><td>Diethylstilbestrol syndrome</td></tr><tr><td>1917</td><td>Fetal methylmercury syndrome</td></tr><tr><td>1918</td><td>Fetal minoxidil syndrome</td></tr><tr><td>1919</td><td>Phenobarbital embryopathy</td></tr><tr><td>192</td><td>Coffin-Lowry syndrome</td></tr><tr><td>1920</td><td>Toluene embryopathy</td></tr><tr><td>1923</td><td>Methimazole embryofetopathy</td></tr><tr><td>1926</td><td>Diabetic embryopathy</td></tr><tr><td>1927</td><td>Emery-Nelson syndrome</td></tr><tr><td>1928</td><td>Congenital lobar emphysema</td></tr><tr><td>1929</td><td>Rasmussen subacute encephalitis</td></tr><tr><td>193</td><td>Cohen syndrome</td></tr><tr><td>1930</td><td>Herpes simplex virus encephalitis</td></tr><tr><td>1931</td><td>Frontal encephalocele</td></tr><tr><td>1933</td><td>Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</td></tr><tr><td>1934</td><td>Early infantile epileptic encephalopathy</td></tr><tr><td>1935</td><td>Early myoclonic encephalopathy</td></tr><tr><td>1937</td><td>Eng-Strom syndrome</td></tr><tr><td>1941</td><td>Juvenile absence epilepsy</td></tr><tr><td>1942</td><td>Myoclonic-astatic epilepsy</td></tr><tr><td>1943</td><td>Early-onset progressive encephalopathy with migrant continuous myoclonus</td></tr><tr><td>1945</td><td>Rolandic epilepsy</td></tr><tr><td>1946</td><td>Amelocerebrohypohidrotic syndrome</td></tr><tr><td>1947</td><td>Progressive epilepsy-intellectual disability syndrome, Finnish type</td></tr><tr><td>1948</td><td>Epilepsy-microcephaly-skeletal dysplasia syndrome</td></tr><tr><td>1949</td><td>Benign familial neonatal epilepsy</td></tr><tr><td>195</td><td>Cat-eye syndrome</td></tr><tr><td>1951</td><td>Epilepsy-telangiectasia syndrome</td></tr><tr><td>1952</td><td>Epiphyseal stippling-osteoclastic hyperplasia syndrome</td></tr><tr><td>1954</td><td>Congenital lethal erythroderma</td></tr><tr><td>1955</td><td>Spinocerebellar ataxia type 34</td></tr><tr><td>1957</td><td>Esthesioneuroblastoma</td></tr><tr><td>1959</td><td>Evans syndrome</td></tr><tr><td>1962</td><td>Exostoses-anetodermia-brachydactyly type E syndrome</td></tr><tr><td>1964</td><td>Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome</td></tr><tr><td>1968</td><td>Flat face-microstomia-ear anomaly syndrome</td></tr><tr><td>1969</td><td>Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome</td></tr><tr><td>1970</td><td>Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome</td></tr><tr><td>1972</td><td>Lethal faciocardiomelic dysplasia</td></tr><tr><td>1973</td><td>Faciocardiorenal syndrome</td></tr><tr><td>1974</td><td>Autosomal recessive faciodigitogenital syndrome</td></tr><tr><td>1979</td><td>Lipodystrophy due to peptidic growth factors deficiency</td></tr><tr><td>198</td><td>Occipital horn syndrome</td></tr><tr><td>1980</td><td>Bilateral striopallidodentate calcinosis</td></tr><tr><td>1986</td><td>Gollop-Wolfgang complex</td></tr><tr><td>1987</td><td>Femoral agenesis/hypoplasia</td></tr><tr><td>1988</td><td>Femoral-facial syndrome</td></tr><tr><td>199</td><td>Cornelia de Lange syndrome</td></tr><tr><td>199241</td><td>Pulmonary capillary hemangiomatosis</td></tr><tr><td>199244</td><td>Nelson syndrome</td></tr><tr><td>199247</td><td>Corticosteroid-binding globulin deficiency</td></tr><tr><td>199251</td><td>Ledderhose disease</td></tr><tr><td>199260</td><td>Calcifying aponeurotic fibroma</td></tr><tr><td>199267</td><td>Infantile digital fibromatosis</td></tr><tr><td>199276</td><td>Familial multiple lipomatosis</td></tr><tr><td>199279</td><td>Familial angiolipomatosis</td></tr><tr><td>199282</td><td>Harlequin syndrome</td></tr><tr><td>199285</td><td>Hereditary hypercarotenemia and vitamin A deficiency</td></tr><tr><td>199293</td><td>Congenital microgastria</td></tr><tr><td>199296</td><td>Congenital isolated ACTH deficiency</td></tr><tr><td>199299</td><td>Late-onset isolated ACTH deficiency</td></tr><tr><td>1993</td><td>Pai syndrome</td></tr><tr><td>199302</td><td>Isolated cleft lip</td></tr><tr><td>199306</td><td>Cleft lip/palate</td></tr><tr><td>199310</td><td>Tetragametic chimerism</td></tr><tr><td>199315</td><td>Familial clubfoot with or without associated lower limb anomalies</td></tr><tr><td>199318</td><td>15q13.3 microdeletion syndrome</td></tr><tr><td>199323</td><td>Endophthalmitis</td></tr><tr><td>199326</td><td>Isolated autosomal dominant hypomagnesemia, Glaudemans type</td></tr><tr><td>199329</td><td>Congenital myopathy, Paradas type</td></tr><tr><td>199332</td><td>Endocrine-cerebro-osteodysplasia syndrome</td></tr><tr><td>199337</td><td>Pancreatic insufficiency-anemia-hyperostosis syndrome</td></tr><tr><td>199340</td><td>Muscular dystrophy, Selcen type</td></tr><tr><td>199343</td><td>EAST syndrome</td></tr><tr><td>199348</td><td>Thiamine-responsive encephalopathy</td></tr><tr><td>199351</td><td>Adult-onset dystonia-parkinsonism</td></tr><tr><td>199354</td><td>Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy</td></tr><tr><td>1995</td><td>Cleft lip-retinopathy syndrome</td></tr><tr><td>199627</td><td>Atypical autism</td></tr><tr><td>199630</td><td>Isolated cerebellar vermis hypoplasia</td></tr><tr><td>199642</td><td>Isolated congenital microcephaly</td></tr><tr><td>199647</td><td>Isolated encephalocele</td></tr><tr><td>1997</td><td>Blepharo-cheilo-odontic syndrome</td></tr><tr><td>20</td><td>3-hydroxy-3-methylglutaric aciduria</td></tr><tr><td>200</td><td>Isolated corpus callosum agenesis</td></tr><tr><td>2001</td><td>Cleft lip/palate-intestinal malrotation-cardiopathy syndrome</td></tr><tr><td>2003</td><td>Cleft lip/palate-deafness-sacral lipoma syndrome</td></tr><tr><td>2004</td><td>Laryngotracheoesophageal cleft</td></tr><tr><td>200418</td><td>Immunodeficiency with factor I anomaly</td></tr><tr><td>200421</td><td>Immunodeficiency with factor H anomaly</td></tr><tr><td>2006</td><td>Median cleft lip/mandible</td></tr><tr><td>2007</td><td>Alar cartilages hypoplasia-coloboma-telecanthus syndrome</td></tr><tr><td>2008</td><td>Acrocardiofacial syndrome</td></tr><tr><td>201</td><td>Cowden syndrome</td></tr><tr><td>2010</td><td>Cleft palate-stapes fixation-oligodontia syndrome</td></tr><tr><td>2013</td><td>Cleft palate-large ears-small head syndrome</td></tr><tr><td>2015</td><td>Cleft palate-short stature-vertebral anomalies syndrome</td></tr><tr><td>2016</td><td>Cleft palate-lateral synechia syndrome</td></tr><tr><td>2017</td><td>Sternal cleft</td></tr><tr><td>2019</td><td>Femur-fibula-ulna complex</td></tr><tr><td>202</td><td>Crandall syndrome</td></tr><tr><td>2020</td><td>Congenital fiber-type disproportion myopathy</td></tr><tr><td>2021</td><td>Fibrochondrogenesis</td></tr><tr><td>2022</td><td>Endocardial fibroelastosis</td></tr><tr><td>2023</td><td>Undifferentiated pleomorphic sarcoma</td></tr><tr><td>2024</td><td>Hereditary gingival fibromatosis</td></tr><tr><td>2025</td><td>Gingival fibromatosis-facial dysmorphism syndrome</td></tr><tr><td>2026</td><td>Gingival fibromatosis-hypertrichosis syndrome</td></tr><tr><td>2027</td><td>Gingival fibromatosis-progressive deafness syndrome</td></tr><tr><td>2028</td><td>Juvenile hyaline fibromatosis</td></tr><tr><td>2030</td><td>Fibrosarcoma</td></tr><tr><td>2031</td><td>Hepatic fibrosis-renal cysts-intellectual disability syndrome</td></tr><tr><td>2032</td><td>Idiopathic pulmonary fibrosis</td></tr><tr><td>2035</td><td>Lymphatic filariasis</td></tr><tr><td>2036</td><td>Scalp-ear-nipple syndrome</td></tr><tr><td>2037</td><td>Congenital aortopulmonary window</td></tr><tr><td>2038</td><td>Pulmonary arteriovenous malformation</td></tr><tr><td>2039</td><td>Congenital systemic arteriovenous fistula</td></tr><tr><td>204</td><td>Sporadic Creutzfeldt-Jakob disease</td></tr><tr><td>2040</td><td>Congenital respiratory-biliary fistula</td></tr><tr><td>2041</td><td>Coronary arterial fistula</td></tr><tr><td>2044</td><td>Floating-Harbor syndrome</td></tr><tr><td>2045</td><td>FLOTCH syndrome</td></tr><tr><td>2047</td><td>Flynn-Aird syndrome</td></tr><tr><td>2048</td><td>Foix-Chavany-Marie syndrome</td></tr><tr><td>205</td><td>Crigler-Najjar syndrome</td></tr><tr><td>2050</td><td>Cole-Carpenter syndrome</td></tr><tr><td>2052</td><td>Fraser syndrome</td></tr><tr><td>2053</td><td>Freeman-Sheldon syndrome</td></tr><tr><td>2056</td><td>Essential fructosuria</td></tr><tr><td>2057</td><td>Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome</td></tr><tr><td>2058</td><td>Fryns-Smeets-Thiry syndrome</td></tr><tr><td>2059</td><td>Fryns syndrome</td></tr><tr><td>2062</td><td>Progressive non-infectious anterior vertebral fusion</td></tr><tr><td>2063</td><td>Splenogonadal fusion-limb defects-micrognathia syndrome</td></tr><tr><td>2064</td><td>Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome</td></tr><tr><td>206436</td><td>Infantile Krabbe disease</td></tr><tr><td>206443</td><td>Late-infantile/juvenile Krabbe disease</td></tr><tr><td>206448</td><td>Adult Krabbe disease</td></tr><tr><td>206470</td><td>Cystadenoma of childhood</td></tr><tr><td>206484</td><td>Gonadoblastoma</td></tr><tr><td>206489</td><td>Malignant germ cell tumor of the vagina</td></tr><tr><td>206492</td><td>Vulvovaginal rhabdomyosarcoma</td></tr><tr><td>2065</td><td>Galloway-Mowat syndrome</td></tr><tr><td>206538</td><td>Malignant non-dysgerminomatous germ cell tumor of ovary</td></tr><tr><td>206546</td><td>Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers</td></tr><tr><td>206549</td><td>Anoctamin-5-related limb-girdle muscular dystrophy R12</td></tr><tr><td>206554</td><td>Fukutin-related limb-girdle muscular dystrophy R13</td></tr><tr><td>206559</td><td>POMT2-related limb-girdle muscular dystrophy R14</td></tr><tr><td>206564</td><td>POMGNT1-related limb-girdle muscular dystrophy R15</td></tr><tr><td>206569</td><td>Immune-mediated necrotizing myopathy</td></tr><tr><td>206572</td><td>Overlap myositis</td></tr><tr><td>206575</td><td>Rippling muscle disease with myasthenia gravis</td></tr><tr><td>206580</td><td>Autosomal recessive lower motor neuron disease with childhood onset</td></tr><tr><td>206583</td><td>Adult polyglucosan body disease</td></tr><tr><td>206586</td><td>Neurolymphomatosis</td></tr><tr><td>206594</td><td>Subacute inflammatory demyelinating polyneuropathy</td></tr><tr><td>206599</td><td>Isolated asymptomatic elevation of creatine phosphokinase</td></tr><tr><td>2066</td><td>Gamma-aminobutyric acid transaminase deficiency</td></tr><tr><td>2067</td><td>GAPO syndrome</td></tr><tr><td>2069</td><td>Gastrocutaneous syndrome</td></tr><tr><td>206991</td><td>Viral myositis</td></tr><tr><td>206994</td><td>Bacterial myositis</td></tr><tr><td>207</td><td>Crouzon syndrome</td></tr><tr><td>2070</td><td>Eosinophilic gastroenteritis</td></tr><tr><td>207000</td><td>Fungal myositis</td></tr><tr><td>2072</td><td>Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</td></tr><tr><td>2073</td><td>Narcolepsy type 1</td></tr><tr><td>2074</td><td>Gemignani syndrome</td></tr><tr><td>2075</td><td>Genitopalatocardiac syndrome</td></tr><tr><td>2077</td><td>German syndrome</td></tr><tr><td>2078</td><td>Geroderma osteodysplastica</td></tr><tr><td>2083</td><td>Prominent glabella-microcephaly-hypogenitalism syndrome</td></tr><tr><td>2084</td><td>Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome</td></tr><tr><td>208441</td><td>Bilateral parasagittal parieto-occipital polymicrogyria</td></tr><tr><td>208444</td><td>Bilateral frontal polymicrogyria</td></tr><tr><td>208447</td><td>Bilateral generalized polymicrogyria</td></tr><tr><td>2085</td><td>Glaucoma-sleep apnea syndrome</td></tr><tr><td>208513</td><td>Spinocerebellar ataxia type 29</td></tr><tr><td>208524</td><td>Herpetiform pemphigus</td></tr><tr><td>2086</td><td>Optic pathway glioma</td></tr><tr><td>2088</td><td>Fanconi-Bickel syndrome</td></tr><tr><td>2089</td><td>Glycogen storage disease due to hepatic glycogen synthase deficiency</td></tr><tr><td>208989</td><td>Non-paraneoplastic sensory ganglionopathy</td></tr><tr><td>208999</td><td>Paraneoplastic sensory ganglionopathy</td></tr><tr><td>2090</td><td>GMS syndrome</td></tr><tr><td>209004</td><td>Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy</td></tr><tr><td>2091</td><td>Multinodular goiter-cystic kidney-polydactyly syndrome</td></tr><tr><td>2092</td><td>Focal dermal hypoplasia</td></tr><tr><td>209335</td><td>Autosomal dominant adult-onset proximal spinal muscular atrophy</td></tr><tr><td>209341</td><td>DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy</td></tr><tr><td>209370</td><td>Severe neonatal-onset encephalopathy with microcephaly</td></tr><tr><td>2095</td><td>Gorlin-Chaudhry-Moss syndrome</td></tr><tr><td>2097</td><td>Grant syndrome</td></tr><tr><td>2098</td><td>Acromesomelic dysplasia, Grebe type</td></tr><tr><td>209867</td><td>Autosomal dominant rhegmatogenous retinal detachment</td></tr><tr><td>209902</td><td>Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency</td></tr><tr><td>209905</td><td>Brain-lung-thyroid syndrome</td></tr><tr><td>209908</td><td>Isolated childhood apraxia of speech</td></tr><tr><td>209916</td><td>Extraskeletal myxoid chondrosarcoma</td></tr><tr><td>209919</td><td>Idiopathic copper-associated cirrhosis</td></tr><tr><td>209932</td><td>Cone dystrophy with supernormal rod response</td></tr><tr><td>209943</td><td>IRVAN syndrome</td></tr><tr><td>209951</td><td>Autosomal spastic paraplegia type 18</td></tr><tr><td>209956</td><td>Idiopathic uveal effusion syndrome</td></tr><tr><td>209959</td><td>Phacoanaphylactic uveitis</td></tr><tr><td>209964</td><td>Solitary rectal ulcer syndrome</td></tr><tr><td>209967</td><td>Episodic ataxia type 6</td></tr><tr><td>209970</td><td>Episodic ataxia type 7</td></tr><tr><td>209973</td><td>Benign nocturnal alternating hemiplegia of childhood</td></tr><tr><td>209981</td><td>IRIDA syndrome</td></tr><tr><td>209989</td><td>Non-papillary transitional cell carcinoma of the bladder</td></tr><tr><td>210</td><td>Cyclosporiasis</td></tr><tr><td>2101</td><td>Grubben-de Cock-Borghgraef syndrome</td></tr><tr><td>210110</td><td>Intermediate osteopetrosis</td></tr><tr><td>210115</td><td>Sterile multifocal osteomyelitis with periostitis and pustulosis</td></tr><tr><td>210122</td><td>Congenital alveolar capillary dysplasia</td></tr><tr><td>210128</td><td>Urocanic aciduria</td></tr><tr><td>210133</td><td>Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome</td></tr><tr><td>210136</td><td>Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome</td></tr><tr><td>210141</td><td>Inherited congenital spastic tetraplegia</td></tr><tr><td>210144</td><td>Lethal polymalformative syndrome, Boissel type</td></tr><tr><td>210159</td><td>Adult hepatocellular carcinoma</td></tr><tr><td>210163</td><td>Congenital lethal myopathy, Compton-North type</td></tr><tr><td>2102</td><td>GTP cyclohydrolase I deficiency</td></tr><tr><td>210272</td><td>Mal de débarquement</td></tr><tr><td>2104</td><td>Dysmorphism-pectus carinatum-joint laxity syndrome</td></tr><tr><td>210548</td><td>Macrocephaly-intellectual disability-autism syndrome</td></tr><tr><td>210571</td><td>Dystonia 16</td></tr><tr><td>210576</td><td>Congenital temporomandibular joint ankylosis</td></tr><tr><td>210584</td><td>Spindle cell hemangioma</td></tr><tr><td>2107</td><td>Hall-Riggs syndrome</td></tr><tr><td>2108</td><td>Hallermann-Streiff syndrome</td></tr><tr><td>2109</td><td>Hallermann-Streiff-like syndrome</td></tr><tr><td>211</td><td>Familial cylindromatosis</td></tr><tr><td>2110</td><td>Hallux varus-preaxial polysyndactyly syndrome</td></tr><tr><td>211017</td><td>Spinocerebellar ataxia type 30</td></tr><tr><td>211067</td><td>Episodic ataxia type 5</td></tr><tr><td>2111</td><td>Cystic hamartoma of lung and kidney</td></tr><tr><td>2114</td><td>Hip dysplasia, Beukes type</td></tr><tr><td>2115</td><td>Harrod syndrome</td></tr><tr><td>2116</td><td>Hartnup disease</td></tr><tr><td>2117</td><td>Hartsfield syndrome</td></tr><tr><td>2118</td><td>Hawkinsinuria</td></tr><tr><td>2119</td><td>HEC syndrome</td></tr><tr><td>212</td><td>Cystathioninuria</td></tr><tr><td>2122</td><td>Kaposiform hemangioendothelioma</td></tr><tr><td>2123</td><td>Diffuse neonatal hemangiomatosis</td></tr><tr><td>2126</td><td>Solitary fibrous tumor</td></tr><tr><td>2128</td><td>Isolated hemihyperplasia</td></tr><tr><td>213</td><td>Cystinosis</td></tr><tr><td>2131</td><td>Alternating hemiplegia of childhood</td></tr><tr><td>2132</td><td>Hemoglobin C disease</td></tr><tr><td>2133</td><td>Hemoglobin E disease</td></tr><tr><td>2134</td><td>Atypical hemolytic uremic syndrome</td></tr><tr><td>2135</td><td>Hennekam-Beemer syndrome</td></tr><tr><td>213504</td><td>Adenocarcinoma of ovary</td></tr><tr><td>213512</td><td>Malignant mixed Müllerian tumor of the ovary</td></tr><tr><td>213528</td><td>Rare adenocarcinoma of the breast</td></tr><tr><td>213531</td><td>Metaplastic carcinoma of the breast</td></tr><tr><td>213557</td><td>Salivary gland type cancer of the breast</td></tr><tr><td>2136</td><td>Hennekam syndrome</td></tr><tr><td>213600</td><td>Adenosarcoma of the corpus uteri</td></tr><tr><td>213605</td><td>Carcinofibroma of the corpus uteri</td></tr><tr><td>213610</td><td>Carcinosarcoma of the corpus uteri</td></tr><tr><td>213615</td><td>Rhabdomyosarcoma of the corpus uteri</td></tr><tr><td>213625</td><td>Leiomyosarcoma of the corpus uteri</td></tr><tr><td>213630</td><td>Primitive neuroectodermal tumor of the corpus uteri</td></tr><tr><td>2137</td><td>Autoimmune hepatitis</td></tr><tr><td>213711</td><td>Endometrial stromal sarcoma</td></tr><tr><td>213716</td><td>Squamous cell carcinoma of the corpus uteri</td></tr><tr><td>213721</td><td>Undifferentiated carcinoma of the corpus uteri</td></tr><tr><td>213726</td><td>Serous carcinoma of the corpus uteri</td></tr><tr><td>213731</td><td>High-grade neuroendocrine carcinoma of the corpus uteri</td></tr><tr><td>213736</td><td>Low-grade neuroendocrine tumor of the corpus uteri</td></tr><tr><td>213746</td><td>Transitional cell carcinoma of the corpus uteri</td></tr><tr><td>213751</td><td>Malignant germ cell tumor of the corpus uteri</td></tr><tr><td>213767</td><td>Squamous cell carcinoma of the cervix uteri</td></tr><tr><td>213772</td><td>Adenocarcinoma of the cervix uteri</td></tr><tr><td>213777</td><td>High-grade neuroendocrine carcinoma of the cervix uteri</td></tr><tr><td>213787</td><td>Carcinosarcoma of the cervix uteri</td></tr><tr><td>213792</td><td>Adenosarcoma of the cervix uteri</td></tr><tr><td>2138</td><td>46,XX ovotesticular difference of sex development</td></tr><tr><td>213802</td><td>Rhabdomyosarcoma of the cervix uteri</td></tr><tr><td>213807</td><td>Leiomyosarcoma of the cervix uteri</td></tr><tr><td>213812</td><td>Primitive neuroectodermal tumor of the cervix uteri</td></tr><tr><td>213823</td><td>Adenoid cystic carcinoma of the cervix uteri</td></tr><tr><td>213828</td><td>Adenoid basal carcinoma of the cervix uteri</td></tr><tr><td>213833</td><td>Glassy cell carcinoma of the cervix uteri</td></tr><tr><td>213837</td><td>Malignant germ cell tumor of the cervix uteri</td></tr><tr><td>2139</td><td>Hernández-Aguirre Negrete syndrome</td></tr><tr><td>214</td><td>Cystinuria</td></tr><tr><td>2140</td><td>Congenital diaphragmatic hernia</td></tr><tr><td>2141</td><td>Diaphragmatic defect-limb deficiency-skull defect syndrome</td></tr><tr><td>2143</td><td>Donnai-Barrow syndrome</td></tr><tr><td>2145</td><td>Craniosynostosis, Herrmann-Opitz type</td></tr><tr><td>2148</td><td>Lissencephaly type 1 due to doublecortin gene mutation</td></tr><tr><td>2149</td><td>Nodular neuronal heterotopia</td></tr><tr><td>215</td><td>Congenital stationary night blindness</td></tr><tr><td>2150</td><td>Hirschsprung disease-type D brachydactyly syndrome</td></tr><tr><td>2151</td><td>Hirschsprung disease-ganglioneuroblastoma syndrome</td></tr><tr><td>2152</td><td>Mowat-Wilson syndrome</td></tr><tr><td>2153</td><td>Hirschsprung disease-nail hypoplasia-dysmorphism syndrome</td></tr><tr><td>2155</td><td>Hirschsprung disease-deafness-polydactyly syndrome</td></tr><tr><td>2157</td><td>Histidinemia</td></tr><tr><td>2158</td><td>Histidinuria-renal tubular defect syndrome</td></tr><tr><td>2162</td><td>Holoprosencephaly</td></tr><tr><td>2163</td><td>Holoprosencephaly-craniosynostosis syndrome</td></tr><tr><td>2165</td><td>Holoprosencephaly-caudal dysgenesis syndrome</td></tr><tr><td>2166</td><td>Holoprosencephaly-postaxial polydactyly syndrome</td></tr><tr><td>216694</td><td>Congenitally corrected transposition of the great arteries</td></tr><tr><td>2167</td><td>Holzgreve syndrome</td></tr><tr><td>216718</td><td>Isolated congenitally uncorrected transposition of the great arteries</td></tr><tr><td>216729</td><td>Congenitally uncorrected transposition of the great arteries with cardiac malformation</td></tr><tr><td>216796</td><td>Osteogenesis imperfecta type 1</td></tr><tr><td>216804</td><td>Osteogenesis imperfecta type 2</td></tr><tr><td>216812</td><td>Osteogenesis imperfecta type 3</td></tr><tr><td>216820</td><td>Osteogenesis imperfecta type 4</td></tr><tr><td>216828</td><td>Osteogenesis imperfecta type 5</td></tr><tr><td>216866</td><td>Classic pantothenate kinase-associated neurodegeneration</td></tr><tr><td>216873</td><td>Atypical pantothenate kinase-associated neurodegeneration</td></tr><tr><td>2169</td><td>Methylcobalamin deficiency type cblE</td></tr><tr><td>216972</td><td>Niemann-Pick disease type C, severe perinatal form</td></tr><tr><td>216975</td><td>Niemann-Pick disease type C, severe early infantile neurologic onset</td></tr><tr><td>216978</td><td>Niemann-Pick disease type C, late infantile neurologic onset</td></tr><tr><td>216981</td><td>Niemann-Pick disease type C, juvenile neurologic onset</td></tr><tr><td>216986</td><td>Niemann-Pick disease type C, adult neurologic onset</td></tr><tr><td>217</td><td>Isolated Dandy-Walker malformation</td></tr><tr><td>2170</td><td>Methylcobalamin deficiency type cblG</td></tr><tr><td>217008</td><td>Bockenheimer syndrome</td></tr><tr><td>217012</td><td>Spinocerebellar ataxia type 31</td></tr><tr><td>217017</td><td>Zechi-Ceide syndrome</td></tr><tr><td>217026</td><td>Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type</td></tr><tr><td>217055</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type A</td></tr><tr><td>217059</td><td>Isolated congenital digital clubbing</td></tr><tr><td>217064</td><td>5-fluorouracil poisoning</td></tr><tr><td>217067</td><td>Pouchitis</td></tr><tr><td>217080</td><td>Pulmonary fungal infections in patients deemed at risk</td></tr><tr><td>217085</td><td>Mucopolysaccharidosis type 2, severe form</td></tr><tr><td>217093</td><td>Mucopolysaccharidosis type 2, attenuated form</td></tr><tr><td>2172</td><td>Microcephaly-glomerulonephritis-marfanoid habitus syndrome</td></tr><tr><td>217253</td><td>NMDA receptor encephalitis</td></tr><tr><td>217260</td><td>Progressive multifocal leukoencephalopathy</td></tr><tr><td>217266</td><td>BNAR syndrome</td></tr><tr><td>217330</td><td>REN-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>217335</td><td>RIN2 syndrome</td></tr><tr><td>217340</td><td>17q21.31 microduplication syndrome</td></tr><tr><td>217346</td><td>19q13.11 microdeletion syndrome</td></tr><tr><td>217371</td><td>Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</td></tr><tr><td>217377</td><td>Microduplication Xp11.22p11.23 syndrome</td></tr><tr><td>217382</td><td>Neurodegenerative syndrome due to cerebral folate transport deficiency</td></tr><tr><td>217385</td><td>17p13.3 microduplication syndrome</td></tr><tr><td>217390</td><td>Combined immunodeficiency due to DOCK8 deficiency</td></tr><tr><td>217396</td><td>Progressive polyneuropathy with bilateral striatal necrosis</td></tr><tr><td>217399</td><td>Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation</td></tr><tr><td>217407</td><td>Hereditary hypotrichosis with recurrent skin vesicles</td></tr><tr><td>217467</td><td>Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency</td></tr><tr><td>217557</td><td>Pulmonary interstitial glycogenosis</td></tr><tr><td>217560</td><td>Neuroendocrine cell hyperplasia of infancy</td></tr><tr><td>217563</td><td>Neonatal acute respiratory distress due to SP-B deficiency</td></tr><tr><td>217566</td><td>Chronic respiratory distress with surfactant metabolism deficiency</td></tr><tr><td>2176</td><td>Infantile systemic hyalinosis</td></tr><tr><td>217622</td><td>Sensorineural deafness with dilated cardiomyopathy</td></tr><tr><td>217656</td><td>Familial isolated arrhythmogenic right ventricular dysplasia</td></tr><tr><td>2177</td><td>Hydranencephaly</td></tr><tr><td>218</td><td>Darier disease</td></tr><tr><td>2180</td><td>Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome</td></tr><tr><td>2181</td><td>Hydrocephaly-tall stature-joint laxity syndrome</td></tr><tr><td>2182</td><td>Hydrocephalus with stenosis of the aqueduct of Sylvius</td></tr><tr><td>2183</td><td>Hydrocephalus-obesity-hypogonadism syndrome</td></tr><tr><td>2184</td><td>Hydrocephaly-low insertion umbilicus syndrome</td></tr><tr><td>2185</td><td>Congenital hydrocephalus</td></tr><tr><td>2186</td><td>Hydrocephalus-blue sclerae-nephropathy syndrome</td></tr><tr><td>2189</td><td>Hydrolethalus</td></tr><tr><td>219</td><td>Delta-sarcoglycan-related limb-girdle muscular dystrophy R6</td></tr><tr><td>2194</td><td>Anti-HLA hyperimmunization</td></tr><tr><td>2195</td><td>Dicarboxylic aminoaciduria</td></tr><tr><td>2196</td><td>Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement</td></tr><tr><td>2197</td><td>Idiopathic hypercalciuria</td></tr><tr><td>2198</td><td>Palmoplantar keratoderma-esophageal carcinoma syndrome</td></tr><tr><td>2199</td><td>Epidermolytic palmoplantar keratoderma</td></tr><tr><td>22</td><td>Succinic semialdehyde dehydrogenase deficiency</td></tr><tr><td>220</td><td>Denys-Drash syndrome</td></tr><tr><td>2200</td><td>Focal palmoplantar and gingival keratoderma</td></tr><tr><td>2201</td><td>Palmoplantar keratoderma-spastic paralysis syndrome</td></tr><tr><td>2202</td><td>Palmoplantar keratoderma-deafness syndrome</td></tr><tr><td>220295</td><td>Xeroderma pigmentosum-Cockayne syndrome complex</td></tr><tr><td>2203</td><td>Hyperlysinemia</td></tr><tr><td>220386</td><td>Semilobar holoprosencephaly</td></tr><tr><td>220393</td><td>Diffuse cutaneous systemic sclerosis</td></tr><tr><td>2204</td><td>Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type</td></tr><tr><td>220402</td><td>Limited cutaneous systemic sclerosis</td></tr><tr><td>220407</td><td>Limited systemic sclerosis</td></tr><tr><td>220436</td><td>Quebec platelet disorder</td></tr><tr><td>220443</td><td>Bleeding diathesis due to thromboxane synthesis deficiency</td></tr><tr><td>220448</td><td>Macrothrombocytopenia with mitral valve insufficiency</td></tr><tr><td>220460</td><td>Attenuated familial adenomatous polyposis</td></tr><tr><td>220465</td><td>Laron syndrome with immunodeficiency</td></tr><tr><td>220493</td><td>Joubert syndrome with ocular defect</td></tr><tr><td>220497</td><td>Joubert syndrome with renal defect</td></tr><tr><td>2206</td><td>Ankylosing vertebral hyperostosis with tylosis</td></tr><tr><td>2209</td><td>Maternal phenylketonuria</td></tr><tr><td>221</td><td>Dermatomyositis</td></tr><tr><td>221008</td><td>Rothmund-Thomson syndrome type 1</td></tr><tr><td>221016</td><td>Rothmund-Thomson syndrome type 2</td></tr><tr><td>221039</td><td>Hereditary sclerosing poikiloderma, Weary type</td></tr><tr><td>221043</td><td>Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome</td></tr><tr><td>221046</td><td>Poikiloderma with neutropenia</td></tr><tr><td>221054</td><td>Acrocephalopolydactyly</td></tr><tr><td>221061</td><td>Familial cerebral cavernous malformation</td></tr><tr><td>221074</td><td>Marchiafava-Bignami disease</td></tr><tr><td>221078</td><td>Combined hyperactive dysfunction syndrome of the cranial nerves</td></tr><tr><td>221083</td><td>Hemifacial spasm</td></tr><tr><td>221091</td><td>Trigeminal neuralgia</td></tr><tr><td>221098</td><td>Glossopharyngeal neuralgia</td></tr><tr><td>2211</td><td>Hypertelorism-hypospadias-polysyndactyly syndrome</td></tr><tr><td>221117</td><td>Gerstmann syndrome</td></tr><tr><td>221120</td><td>Pseudoaminopterin syndrome</td></tr><tr><td>221126</td><td>Fowler vasculopathy</td></tr><tr><td>221139</td><td>Combined immunodeficiency with facio-oculo-skeletal anomalies</td></tr><tr><td>221142</td><td>Confetti-like macular atrophy</td></tr><tr><td>221145</td><td>Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</td></tr><tr><td>2213</td><td>Hypertelorism-microtia-facial clefting syndrome</td></tr><tr><td>2215</td><td>Multiple pterygium-malignant hyperthermia syndrome</td></tr><tr><td>2216</td><td>Maternal hyperthermia-induced birth defects</td></tr><tr><td>2218</td><td>Cervical hypertrichosis-peripheral neuropathy syndrome</td></tr><tr><td>222</td><td>Erosive pustular dermatosis of the scalp</td></tr><tr><td>2220</td><td>Hypertrichosis cubiti</td></tr><tr><td>2221</td><td>Acquired hypertrichosis lanuginosa</td></tr><tr><td>2222</td><td>Hypertrichosis lanuginosa congenita</td></tr><tr><td>2224</td><td>Hypertryptophanemia</td></tr><tr><td>2228</td><td>Hypodontia-dysplasia of nails syndrome</td></tr><tr><td>2229</td><td>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</td></tr><tr><td>223</td><td>Nephrogenic diabetes insipidus</td></tr><tr><td>2230</td><td>Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome</td></tr><tr><td>2232</td><td>Primary hypergonadotropic hypogonadism-partial alopecia syndrome</td></tr><tr><td>2233</td><td>Hypogonadism-mitral valve prolapse-intellectual disability syndrome</td></tr><tr><td>2234</td><td>Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome</td></tr><tr><td>2235</td><td>Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome</td></tr><tr><td>2237</td><td>Hypoparathyroidism-sensorineural deafness-renal disease syndrome</td></tr><tr><td>2238</td><td>Familial isolated hypoparathyroidism</td></tr><tr><td>2239</td><td>Familial isolated hypoparathyroidism due to agenesis of parathyroid gland</td></tr><tr><td>2241</td><td>Megacystis-microcolon-intestinal hypoperistalsis syndrome</td></tr><tr><td>2246</td><td>Cerebellar hypoplasia-tapetoretinal degeneration syndrome</td></tr><tr><td>2248</td><td>Hypoplastic left heart syndrome</td></tr><tr><td>2249</td><td>Ulna hypoplasia-intellectual disability syndrome</td></tr><tr><td>225</td><td>Maternally-inherited diabetes and deafness</td></tr><tr><td>2250</td><td>Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome</td></tr><tr><td>2251</td><td>Thumb deformity-alopecia-pigmentation anomaly syndrome</td></tr><tr><td>225123</td><td>TFR2-related hemochromatosis</td></tr><tr><td>225147</td><td>Sporadic infantile bilateral striatal necrosis</td></tr><tr><td>225154</td><td>Familial infantile bilateral striatal necrosis</td></tr><tr><td>2252</td><td>Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome</td></tr><tr><td>2253</td><td>Foveal hypoplasia-presenile cataract syndrome</td></tr><tr><td>2254</td><td>Pontocerebellar hypoplasia type 1</td></tr><tr><td>2255</td><td>Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</td></tr><tr><td>2256</td><td>Fibulo-ulnar hypoplasia-renal anomalies syndrome</td></tr><tr><td>2257</td><td>Primary pulmonary hypoplasia</td></tr><tr><td>226</td><td>Dihydropteridine reductase deficiency</td></tr><tr><td>2260</td><td>Oligomeganephronia</td></tr><tr><td>2261</td><td>Hypospadias-intellectual disability, Goldblatt type syndrome</td></tr><tr><td>226307</td><td>Hypothyroidism due to deficient transcription factors involved in pituitary development or function</td></tr><tr><td>226313</td><td>Congenital hypothyroidism due to maternal intake of antithyroid drugs</td></tr><tr><td>226316</td><td>Genetic transient congenital hypothyroidism</td></tr><tr><td>2266</td><td>Hypotrichosis-intellectual disability, Lopes type</td></tr><tr><td>2268</td><td>ICF syndrome</td></tr><tr><td>2269</td><td>Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome</td></tr><tr><td>227</td><td>Diphallia</td></tr><tr><td>2271</td><td>Congenital ichthyosis-microcephalus-tetraplegia syndrome</td></tr><tr><td>2272</td><td>Ichthyosis-oral and digital anomalies syndrome</td></tr><tr><td>2273</td><td>Ichthyosis follicularis-alopecia-photophobia syndrome</td></tr><tr><td>2274</td><td>Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome</td></tr><tr><td>227510</td><td>Multiple system atrophy, cerebellar type</td></tr><tr><td>227535</td><td>Hereditary breast cancer</td></tr><tr><td>227796</td><td>Fundus albipunctatus</td></tr><tr><td>2278</td><td>Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome</td></tr><tr><td>227972</td><td>Toxic oil syndrome</td></tr><tr><td>227976</td><td>Autosomal recessive optic atrophy, OPA7 type</td></tr><tr><td>227982</td><td>Autoimmune polyendocrinopathy type 3</td></tr><tr><td>227990</td><td>Autoimmune polyendocrinopathy type 4</td></tr><tr><td>228000</td><td>Idiopathic CD4 lymphocytopenia</td></tr><tr><td>228003</td><td>Severe combined immunodeficiency due to CORO1A deficiency</td></tr><tr><td>228012</td><td>Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome</td></tr><tr><td>228113</td><td>Anal fistula</td></tr><tr><td>228116</td><td>Hughes-Stovin syndrome</td></tr><tr><td>228119</td><td>Fusariosis</td></tr><tr><td>228123</td><td>Coccidioidomycosis</td></tr><tr><td>228140</td><td>Idiopathic ventricular fibrillation, non Brugada type</td></tr><tr><td>228157</td><td>Marburg acute multiple sclerosis</td></tr><tr><td>228165</td><td>Baló concentric sclerosis</td></tr><tr><td>228169</td><td>Autosomal dominant striatal neurodegeneration</td></tr><tr><td>228174</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2N</td></tr><tr><td>228179</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2M</td></tr><tr><td>228190</td><td>Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome</td></tr><tr><td>2282</td><td>Dysmorphism-short stature-deafness-difference of sex development syndrome</td></tr><tr><td>228227</td><td>Late-onset focal dermal elastosis</td></tr><tr><td>228236</td><td>Linear focal elastosis</td></tr><tr><td>228240</td><td>Elastoderma</td></tr><tr><td>228243</td><td>Elastofibroma dorsi</td></tr><tr><td>228247</td><td>Acquired pseudoxanthoma elasticum</td></tr><tr><td>228254</td><td>Elastoma</td></tr><tr><td>228264</td><td>Papular elastorrhexis</td></tr><tr><td>228272</td><td>Primary anetoderma</td></tr><tr><td>228277</td><td>Familial anetoderma</td></tr><tr><td>228285</td><td>Acquired cutis laxa</td></tr><tr><td>228290</td><td>White fibrous papulosis of the neck</td></tr><tr><td>228293</td><td>Pseudoxanthoma elasticum-like papillary dermal elastolysis</td></tr><tr><td>228299</td><td>Mid-dermal elastolysis</td></tr><tr><td>228302</td><td>Carnitine palmitoyl transferase II deficiency, myopathic form</td></tr><tr><td>228305</td><td>Carnitine palmitoyl transferase II deficiency, severe infantile form</td></tr><tr><td>228308</td><td>Carnitine palmitoyl transferase II deficiency, neonatal form</td></tr><tr><td>228329</td><td>CLN1 disease</td></tr><tr><td>228337</td><td>CLN10 disease</td></tr><tr><td>228340</td><td>CLN4A disease</td></tr><tr><td>228343</td><td>CLN4B disease</td></tr><tr><td>228346</td><td>CLN3 disease</td></tr><tr><td>228349</td><td>CLN2 disease</td></tr><tr><td>228354</td><td>CLN8 disease</td></tr><tr><td>228357</td><td>CLN9 disease</td></tr><tr><td>228360</td><td>CLN5 disease</td></tr><tr><td>228363</td><td>CLN6 disease</td></tr><tr><td>228366</td><td>CLN7 disease</td></tr><tr><td>228371</td><td>Foodborne botulism</td></tr><tr><td>228374</td><td>Charcot-Marie-Tooth disease type 2B5</td></tr><tr><td>228379</td><td>Virus-associated trichodysplasia spinulosa</td></tr><tr><td>228384</td><td>5q14.3 microdeletion syndrome</td></tr><tr><td>228387</td><td>Spondylo-megaepiphyseal-metaphyseal dysplasia</td></tr><tr><td>228390</td><td>Frontonasal dysplasia-alopecia-genital anomalies syndrome</td></tr><tr><td>228396</td><td>Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome</td></tr><tr><td>228399</td><td>8q12 microduplication syndrome</td></tr><tr><td>228402</td><td>2q23.1 microdeletion syndrome</td></tr><tr><td>228410</td><td>Polyvalvular heart disease syndrome</td></tr><tr><td>228415</td><td>5q35 microduplication syndrome</td></tr><tr><td>228423</td><td>Monocytopenia with susceptibility to infections</td></tr><tr><td>228426</td><td>Syndromic multisystem autoimmune disease due to Itch deficiency</td></tr><tr><td>2285</td><td>Primary basilar invagination</td></tr><tr><td>2287</td><td>Fused mandibular incisors</td></tr><tr><td>2289</td><td>Neuronal intranuclear inclusion disease</td></tr><tr><td>229</td><td>Familial aortic dissection</td></tr><tr><td>2290</td><td>Microvillus inclusion disease</td></tr><tr><td>2291</td><td>Congenital velopharyngeal incompetence</td></tr><tr><td>2295</td><td>Familial articular hypermobility syndrome</td></tr><tr><td>2297</td><td>Insulin-resistance syndrome type A</td></tr><tr><td>229717</td><td>Isolated agammaglobulinemia</td></tr><tr><td>2298</td><td>Insulin-resistance syndrome type B</td></tr><tr><td>2299</td><td>Aortic arch interruption</td></tr><tr><td>23</td><td>Argininosuccinic aciduria</td></tr><tr><td>230</td><td>Dopamine beta-hydroxylase deficiency</td></tr><tr><td>2300</td><td>Multiple intestinal atresia</td></tr><tr><td>2301</td><td>Congenital short bowel syndrome</td></tr><tr><td>2302</td><td>Asbestos intoxication</td></tr><tr><td>2305</td><td>Isotretinoin syndrome</td></tr><tr><td>2306</td><td>Isotretinoin-like syndrome</td></tr><tr><td>2307</td><td>IVIC syndrome</td></tr><tr><td>2308</td><td>Jacobsen syndrome</td></tr><tr><td>230800</td><td>Toxin-mediated infectious botulism</td></tr><tr><td>230839</td><td>Classical-like Ehlers-Danlos syndrome type 1</td></tr><tr><td>230851</td><td>Cardiac-valvular Ehlers-Danlos syndrome</td></tr><tr><td>230857</td><td>Ehlers-Danlos/osteogenesis imperfecta syndrome</td></tr><tr><td>2309</td><td>Pachyonychia congenita</td></tr><tr><td>231</td><td>Dracunculiasis</td></tr><tr><td>2310</td><td>Absence deformity of leg-cataract syndrome</td></tr><tr><td>231013</td><td>Congenital trigeminal anesthesia</td></tr><tr><td>231031</td><td>Erythema palmare hereditarium</td></tr><tr><td>231040</td><td>Familial generalized lentiginosis</td></tr><tr><td>231080</td><td>High-grade dysplasia in patients with Barrett esophagus</td></tr><tr><td>2311</td><td>Autosomal recessive spondylocostal dysostosis</td></tr><tr><td>231108</td><td>Rhabdoid tumor predisposition syndrome</td></tr><tr><td>231111</td><td>Drug-induced lupus erythematosus</td></tr><tr><td>231117</td><td>Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</td></tr><tr><td>231120</td><td>Beckwith-Wiedemann syndrome due to CDKN1C mutation</td></tr><tr><td>231127</td><td>Beckwith-Wiedemann syndrome due to 11p15 microdeletion</td></tr><tr><td>231130</td><td>Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</td></tr><tr><td>231137</td><td>Silver-Russell syndrome due to 7p11.2p13 microduplication</td></tr><tr><td>231140</td><td>Silver-Russell syndrome due to an imprinting defect of 11p15</td></tr><tr><td>231144</td><td>Silver-Russell syndrome due to 11p15 microduplication</td></tr><tr><td>231147</td><td>Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</td></tr><tr><td>231154</td><td>Combined immunodeficiency due to partial RAG1 deficiency</td></tr><tr><td>231160</td><td>Familial cerebral saccular aneurysm</td></tr><tr><td>231169</td><td>Usher syndrome type 1</td></tr><tr><td>231178</td><td>Usher syndrome type 2</td></tr><tr><td>231183</td><td>Usher syndrome type 3</td></tr><tr><td>2312</td><td>Transient familial neonatal hyperbilirubinemia</td></tr><tr><td>231214</td><td>Beta-thalassemia major</td></tr><tr><td>231222</td><td>Beta-thalassemia intermedia</td></tr><tr><td>231226</td><td>Dominant beta-thalassemia</td></tr><tr><td>231237</td><td>Delta-beta-thalassemia</td></tr><tr><td>231242</td><td>Hemoglobin C-beta-thalassemia syndrome</td></tr><tr><td>231249</td><td>Hemoglobin E-beta-thalassemia syndrome</td></tr><tr><td>231393</td><td>Beta-thalassemia-X-linked thrombocytopenia syndrome</td></tr><tr><td>2314</td><td>Autosomal dominant hyper-IgE syndrome</td></tr><tr><td>231401</td><td>Alpha-thalassemia-myelodysplastic syndrome</td></tr><tr><td>231426</td><td>Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome</td></tr><tr><td>231445</td><td>Paraparetic variant of Guillain-Barré syndrome</td></tr><tr><td>231450</td><td>Acute pure sensory neuropathy</td></tr><tr><td>231457</td><td>Acute pandysautonomia</td></tr><tr><td>231466</td><td>Acute sensory ataxic neuropathy</td></tr><tr><td>2315</td><td>Johanson-Blizzard syndrome</td></tr><tr><td>231500</td><td>Hermansky-Pudlak syndrome due to BLOC-3 deficiency</td></tr><tr><td>231512</td><td>Hermansky-Pudlak syndrome due to BLOC-2 deficiency</td></tr><tr><td>231531</td><td>Hermansky-Pudlak syndrome due to BLOC-1 deficiency</td></tr><tr><td>231556</td><td>Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome</td></tr><tr><td>231568</td><td>Autosomal dominant generalized dystrophic epidermolysis bullosa</td></tr><tr><td>231573</td><td>Congenital erosive and vesicular dermatosis</td></tr><tr><td>231580</td><td>Primary unilateral adrenal hyperplasia</td></tr><tr><td>2316</td><td>Johnson neuroectodermal syndrome</td></tr><tr><td>231625</td><td>Adrenocortical carcinoma with pure aldosterone hypersecretion</td></tr><tr><td>231632</td><td>Ectopic aldosterone-producing tumor</td></tr><tr><td>231662</td><td>Isolated growth hormone deficiency type IA</td></tr><tr><td>231671</td><td>Isolated growth hormone deficiency type IB</td></tr><tr><td>231679</td><td>Isolated growth hormone deficiency type II</td></tr><tr><td>231692</td><td>Isolated growth hormone deficiency type III</td></tr><tr><td>231720</td><td>Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome</td></tr><tr><td>231736</td><td>Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome</td></tr><tr><td>231742</td><td>Epibulbar lipodermoid-preauricular appendage-polythelia syndrome</td></tr><tr><td>2318</td><td>Joubert syndrome with oculorenal defect</td></tr><tr><td>2319</td><td>Juberg-Hayward syndrome</td></tr><tr><td>232</td><td>Sickle cell anemia</td></tr><tr><td>2321</td><td>Jung syndrome</td></tr><tr><td>2322</td><td>Kabuki syndrome</td></tr><tr><td>2323</td><td>Sanjad-Sakati syndrome</td></tr><tr><td>2324</td><td>Osteopenia-intellectual disability-sparse hair syndrome</td></tr><tr><td>2325</td><td>Epidermolysis bullosa simplex with anodontia/hypodontia</td></tr><tr><td>2326</td><td>Kallmann syndrome-heart disease syndrome</td></tr><tr><td>2328</td><td>Kapur-Toriello syndrome</td></tr><tr><td>2329</td><td>Karsch-Neugebauer syndrome</td></tr><tr><td>233</td><td>Duane retraction syndrome</td></tr><tr><td>2330</td><td>Kasabach-Merritt syndrome</td></tr><tr><td>2331</td><td>Kawasaki disease</td></tr><tr><td>2332</td><td>KBG syndrome</td></tr><tr><td>2333</td><td>Kenny-Caffey syndrome</td></tr><tr><td>2334</td><td>Autosomal dominant keratitis</td></tr><tr><td>2337</td><td>Non-epidermolytic palmoplantar keratoderma</td></tr><tr><td>2339</td><td>Keratosis follicularis-dwarfism-cerebral atrophy syndrome</td></tr><tr><td>234</td><td>Dubin-Johnson syndrome</td></tr><tr><td>2340</td><td>Keratosis follicularis spinulosa decalvans</td></tr><tr><td>2342</td><td>Haim-Munk syndrome</td></tr><tr><td>2345</td><td>Isolated Klippel-Feil syndrome</td></tr><tr><td>2347</td><td>Lethal Kniest-like dysplasia</td></tr><tr><td>2348</td><td>Familial partial lipodystrophy, Dunnigan type</td></tr><tr><td>2349</td><td>Muscular pseudohypertrophy-hypothyroidism syndrome</td></tr><tr><td>235</td><td>Dubowitz syndrome</td></tr><tr><td>2351</td><td>Kousseff syndrome</td></tr><tr><td>2353</td><td>Schilbach-Rott syndrome</td></tr><tr><td>2356</td><td>Arachnoid cyst</td></tr><tr><td>2357</td><td>Bronchogenic cyst</td></tr><tr><td>236</td><td>Trisomy 9p</td></tr><tr><td>2363</td><td>Lacrimoauriculodentodigital syndrome</td></tr><tr><td>2364</td><td>Glycogen storage disease due to lactate dehydrogenase deficiency</td></tr><tr><td>2368</td><td>Gastroschisis</td></tr><tr><td>2369</td><td>Limb body wall complex</td></tr><tr><td>237</td><td>Duplication of urethra</td></tr><tr><td>2370</td><td>Larsen-like osseous dysplasia-short stature syndrome</td></tr><tr><td>2371</td><td>Lethal Larsen-like syndrome</td></tr><tr><td>2372</td><td>Laryngocele</td></tr><tr><td>2373</td><td>Congenital laryngomalacia</td></tr><tr><td>2374</td><td>Congenital laryngeal web</td></tr><tr><td>2375</td><td>Laryngeal abductor paralysis-intellectual disability syndrome</td></tr><tr><td>2377</td><td>Laurence-Moon syndrome</td></tr><tr><td>2378</td><td>Laurin-Sandrow syndrome</td></tr><tr><td>2379</td><td>Early-onset parkinsonism-intellectual disability syndrome</td></tr><tr><td>238</td><td>Digestive duplication</td></tr><tr><td>2380</td><td>Legg-Calvé-Perthes disease</td></tr><tr><td>2382</td><td>Lennox-Gastaut syndrome</td></tr><tr><td>238269</td><td>AApoAII amyloidosis</td></tr><tr><td>238305</td><td>Infundibulo-neurohypophysitis</td></tr><tr><td>238329</td><td>Severe X-linked mitochondrial encephalomyopathy</td></tr><tr><td>238446</td><td>15q11q13 microduplication syndrome</td></tr><tr><td>238455</td><td>Infantile dystonia-parkinsonism</td></tr><tr><td>238459</td><td>SLC35A1-CDG</td></tr><tr><td>238468</td><td>Hypohidrotic ectodermal dysplasia</td></tr><tr><td>238475</td><td>Familial hypercholanemia</td></tr><tr><td>238505</td><td>Combined immunodeficiency due to CD27 deficiency</td></tr><tr><td>238523</td><td>Atypical hypotonia-cystinuria syndrome</td></tr><tr><td>238557</td><td>Chuvash erythrocytosis</td></tr><tr><td>238569</td><td>Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome</td></tr><tr><td>238578</td><td>Familial clubfoot due to 17q23.1q23.2 microduplication</td></tr><tr><td>238583</td><td>Hyperphenylalaninemia due to tetrahydrobiopterin deficiency</td></tr><tr><td>238593</td><td>IgG4-related mesenteritis</td></tr><tr><td>2386</td><td>Leukoencephalopathy-palmoplantar keratoderma syndrome</td></tr><tr><td>238606</td><td>Primary orthostatic tremor</td></tr><tr><td>238613</td><td>Beckwith-Wiedemann syndrome due to NSD1 mutation</td></tr><tr><td>238621</td><td>Ileal pouch anal anastomosis related faecal incontinence</td></tr><tr><td>238624</td><td>Idiopathic intracranial hypertension</td></tr><tr><td>238637</td><td>Megacystis-megaureter syndrome</td></tr><tr><td>238642</td><td>Primary megaureter, adult-onset form</td></tr><tr><td>238646</td><td>Congenital primary megaureter, obstructed form</td></tr><tr><td>238650</td><td>Congenital primary megaureter, refluxing form</td></tr><tr><td>238654</td><td>Congenital primary megaureter, nonrefluxing and unobstructed form</td></tr><tr><td>238666</td><td>Isolated congenital hypogonadotropic hypogonadism</td></tr><tr><td>238670</td><td>Isolated thyrotropin-releasing hormone deficiency</td></tr><tr><td>238688</td><td>Neonatal iodine exposure</td></tr><tr><td>2387</td><td>Leukonychia totalis</td></tr><tr><td>238722</td><td>Familial congenital mirror movements</td></tr><tr><td>238744</td><td>Mammary-digital-nail syndrome</td></tr><tr><td>238750</td><td>4q21 microdeletion syndrome</td></tr><tr><td>238763</td><td>Glaucoma secondary to spherophakia/ectopia lentis and megalocornea</td></tr><tr><td>238769</td><td>1q44 microdeletion syndrome</td></tr><tr><td>2388</td><td>Choreoacanthocytosis</td></tr><tr><td>239</td><td>Dyggve-Melchior-Clausen disease</td></tr><tr><td>2390</td><td>Lichtenstein syndrome</td></tr><tr><td>2391</td><td>Congenitally short costocoracoid ligament</td></tr><tr><td>2394</td><td>Pyruvate dehydrogenase E3 deficiency</td></tr><tr><td>2396</td><td>Encephalocraniocutaneous lipomatosis</td></tr><tr><td>2398</td><td>Multiple symmetric lipomatosis</td></tr><tr><td>2399</td><td>Nasopalpebral lipoma-coloboma syndrome</td></tr><tr><td>24</td><td>Fumaric aciduria</td></tr><tr><td>240</td><td>Léri-Weill dyschondrosteosis</td></tr><tr><td>2400</td><td>Peripheral motor neuropathy-dysautonomia syndrome</td></tr><tr><td>240071</td><td>Classic progressive supranuclear palsy syndrome</td></tr><tr><td>240085</td><td>Progressive supranuclear palsy-parkinsonism syndrome</td></tr><tr><td>240094</td><td>Progressive supranuclear palsy-pure akinesia with gait freezing syndrome</td></tr><tr><td>240103</td><td>Progressive supranuclear palsy-corticobasal syndrome</td></tr><tr><td>240112</td><td>Progressive supranuclear palsy-progressive non-fluent aphasia syndrome</td></tr><tr><td>2404</td><td>Loiasis</td></tr><tr><td>2405</td><td>Thickened earlobes-conductive deafness syndrome</td></tr><tr><td>2406</td><td>Locked-in syndrome</td></tr><tr><td>2407</td><td>Laryngo-onycho-cutaneous syndrome</td></tr><tr><td>240760</td><td>Nijmegen breakage syndrome-like disorder</td></tr><tr><td>2408</td><td>Lowe-Kohn-Cohen syndrome</td></tr><tr><td>2409</td><td>Lowry-MacLean syndrome</td></tr><tr><td>241</td><td>Dyschromatosis universalis hereditaria</td></tr><tr><td>2410</td><td>Hypergonadotropic hypogonadism-cataract syndrome</td></tr><tr><td>2412</td><td>Dislocation of the hip-dysmorphism syndrome</td></tr><tr><td>2414</td><td>Congenital pulmonary lymphangiectasia</td></tr><tr><td>242</td><td>46,XY complete gonadal dysgenesis</td></tr><tr><td>2420</td><td>Primary pulmonary lymphoma</td></tr><tr><td>2427</td><td>Macrocephaly-short stature-paraplegia syndrome</td></tr><tr><td>2429</td><td>Macrocephaly-spastic paraplegia-dysmorphism syndrome</td></tr><tr><td>243</td><td>46,XX gonadal dysgenesis</td></tr><tr><td>2430</td><td>Congenital macroglossia</td></tr><tr><td>2432</td><td>Macrosomia-microphthalmia-cleft palate syndrome</td></tr><tr><td>243343</td><td>Dimethylglycine dehydrogenase deficiency</td></tr><tr><td>243367</td><td>Acute fatty liver of pregnancy</td></tr><tr><td>2435</td><td>Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome</td></tr><tr><td>2437</td><td>Czeizel-Losonci syndrome</td></tr><tr><td>2438</td><td>Hand-foot-genital syndrome</td></tr><tr><td>2439</td><td>Patterson-Stevenson-Fontaine syndrome</td></tr><tr><td>244</td><td>Primary ciliary dyskinesia</td></tr><tr><td>2440</td><td>Isolated split hand-split foot malformation</td></tr><tr><td>244242</td><td>HELLP syndrome</td></tr><tr><td>244275</td><td>De novo thrombotic microangiopathy after kidney transplantation</td></tr><tr><td>244283</td><td>Biliary atresia with splenic malformation syndrome</td></tr><tr><td>244305</td><td>Dominant hypophosphatemia with nephrolithiasis or osteoporosis</td></tr><tr><td>244310</td><td>RFT1-CDG</td></tr><tr><td>2444</td><td>Congenital pulmonary airway malformation</td></tr><tr><td>245</td><td>Nager syndrome</td></tr><tr><td>2451</td><td>Mucocutaneous venous malformations</td></tr><tr><td>2456</td><td>Familial supernumerary nipples</td></tr><tr><td>2457</td><td>Mandibuloacral dysplasia</td></tr><tr><td>2459</td><td>Mansonelliasis</td></tr><tr><td>246</td><td>Postaxial acrofacial dysostosis</td></tr><tr><td>2460</td><td>Van den Ende-Gupta syndrome</td></tr><tr><td>2461</td><td>Marden-Walker syndrome</td></tr><tr><td>2462</td><td>Shprintzen-Goldberg syndrome</td></tr><tr><td>2463</td><td>Marfanoid habitus-autosomal recessive intellectual disability syndrome</td></tr><tr><td>2464</td><td>Marfanoid syndrome, De Silva type</td></tr><tr><td>2466</td><td>MASA syndrome</td></tr><tr><td>2470</td><td>Matthew-Wood syndrome</td></tr><tr><td>2471</td><td>McDonough syndrome</td></tr><tr><td>247165</td><td>Infantile mercury poisoning</td></tr><tr><td>247198</td><td>Progressive cerebello-cerebral atrophy</td></tr><tr><td>247203</td><td>Collecting duct carcinoma</td></tr><tr><td>247234</td><td>Sporadic adult-onset ataxia of unknown etiology</td></tr><tr><td>247245</td><td>Superficial siderosis</td></tr><tr><td>247257</td><td>Inhalational anthrax</td></tr><tr><td>247262</td><td>Hyperphosphatasia-intellectual disability syndrome</td></tr><tr><td>2473</td><td>McKusick-Kaufman syndrome</td></tr><tr><td>247353</td><td>Generalized pustular psoriasis</td></tr><tr><td>247378</td><td>Autosomal recessive secondary polycythemia not associated with VHL gene</td></tr><tr><td>2475</td><td>White forelock with malformations</td></tr><tr><td>247511</td><td>Autosomal dominant secondary polycythemia</td></tr><tr><td>247522</td><td>Primary ciliary dyskinesia-retinitis pigmentosa syndrome</td></tr><tr><td>247525</td><td>Citrullinemia type I</td></tr><tr><td>247546</td><td>Acute neonatal citrullinemia type I</td></tr><tr><td>247573</td><td>Late-onset citrullinemia type I</td></tr><tr><td>247585</td><td>Citrullinemia type II</td></tr><tr><td>247598</td><td>Neonatal intrahepatic cholestasis due to citrin deficiency</td></tr><tr><td>2476</td><td>Dysraphism-cleft lip/palate-limb reduction defects syndrome</td></tr><tr><td>247604</td><td>Juvenile primary lateral sclerosis</td></tr><tr><td>247623</td><td>Perinatal lethal hypophosphatasia</td></tr><tr><td>247638</td><td>Prenatal benign hypophosphatasia</td></tr><tr><td>247651</td><td>Infantile hypophosphatasia</td></tr><tr><td>247667</td><td>Childhood-onset hypophosphatasia</td></tr><tr><td>247676</td><td>Adult hypophosphatasia</td></tr><tr><td>247685</td><td>Odontohypophosphatasia</td></tr><tr><td>247691</td><td>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</td></tr><tr><td>247698</td><td>Multiple endocrine neoplasia type 2A</td></tr><tr><td>2477</td><td>Megalencephaly</td></tr><tr><td>247709</td><td>Multiple endocrine neoplasia type 2B</td></tr><tr><td>247718</td><td>Inflammatory myopathy with abundant macrophages</td></tr><tr><td>247724</td><td>Idiopathic eosinophilic myositis</td></tr><tr><td>247762</td><td>Lipoblastoma</td></tr><tr><td>247768</td><td>Müllerian aplasia and hyperandrogenism</td></tr><tr><td>247775</td><td>Mayer-Rokitansky-Küster-Hauser syndrome type 1</td></tr><tr><td>247790</td><td>FTH1-related iron overload</td></tr><tr><td>247794</td><td>Juvenile cataract-microcornea-renal glucosuria syndrome</td></tr><tr><td>247798</td><td>MUTYH-related attenuated familial adenomatous polyposis</td></tr><tr><td>2478</td><td>Megalencephalic leukoencephalopathy with subcortical cysts</td></tr><tr><td>247806</td><td>APC-related attenuated familial adenomatous polyposis</td></tr><tr><td>247815</td><td>Autosomal recessive ataxia due to PEX10 deficiency</td></tr><tr><td>247820</td><td>Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome</td></tr><tr><td>247827</td><td>Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome</td></tr><tr><td>247834</td><td>Occult macular dystrophy</td></tr><tr><td>247868</td><td>NLRP12-associated hereditary periodic fever syndrome</td></tr><tr><td>2479</td><td>Megalocornea-intellectual disability syndrome</td></tr><tr><td>248</td><td>Autosomal recessive hypohidrotic ectodermal dysplasia</td></tr><tr><td>2481</td><td>Neurocutaneous melanocytosis</td></tr><tr><td>248111</td><td>Juvenile Huntington disease</td></tr><tr><td>2482</td><td>Melhem-Fahl syndrome</td></tr><tr><td>2483</td><td>Melkersson-Rosenthal syndrome</td></tr><tr><td>248340</td><td>Isolated delta-storage pool disease</td></tr><tr><td>2484</td><td>Melnick-Needles syndrome</td></tr><tr><td>248408</td><td>Familial hypodysfibrinogenemia</td></tr><tr><td>2485</td><td>Melorheostosis</td></tr><tr><td>2487</td><td>Lower limb malformation-hypospadias syndrome</td></tr><tr><td>2489</td><td>Upper limb defect-eye and ear abnormalities syndrome</td></tr><tr><td>249</td><td>Fibrous dysplasia of bone</td></tr><tr><td>2491</td><td>Müllerian duct anomalies-limb anomalies syndrome</td></tr><tr><td>2492</td><td>FATCO syndrome</td></tr><tr><td>2494</td><td>Ménétrier disease</td></tr><tr><td>2495</td><td>Meningioma</td></tr><tr><td>2496</td><td>Mesomelia-synostoses syndrome</td></tr><tr><td>2497</td><td>Upper limb mesomelic dysplasia</td></tr><tr><td>2498</td><td>Syndactyly type 8</td></tr><tr><td>2499</td><td>Metachondromatosis</td></tr><tr><td>25</td><td>Glutaryl-CoA dehydrogenase deficiency</td></tr><tr><td>2500</td><td>Acrogeria</td></tr><tr><td>2501</td><td>Metaphyseal chondrodysplasia, Spahr type</td></tr><tr><td>2502</td><td>Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome</td></tr><tr><td>2504</td><td>Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome</td></tr><tr><td>2505</td><td>Multiple benign circumferential skin creases on limbs</td></tr><tr><td>2508</td><td>Corpus callosum agenesis-abnormal genitalia syndrome</td></tr><tr><td>250831</td><td>Logopenic progressive aphasia</td></tr><tr><td>250923</td><td>Isolated aniridia</td></tr><tr><td>250932</td><td>Autosomal dominant optic atrophy and peripheral neuropathy</td></tr><tr><td>250972</td><td>Polymicrogyria with optic nerve hypoplasia</td></tr><tr><td>250977</td><td>AICA-ribosiduria</td></tr><tr><td>250984</td><td>Autosomal recessive Stickler syndrome</td></tr><tr><td>250989</td><td>1q21.1 microdeletion syndrome</td></tr><tr><td>250994</td><td>1q21.1 microduplication syndrome</td></tr><tr><td>250999</td><td>1q41q42 microdeletion syndrome</td></tr><tr><td>2510</td><td>Micro syndrome</td></tr><tr><td>251004</td><td>Paternal uniparental disomy of chromosome 1</td></tr><tr><td>251009</td><td>Maternal uniparental disomy of chromosome 1</td></tr><tr><td>251014</td><td>2q31.1 microdeletion syndrome</td></tr><tr><td>251019</td><td>2q32q33 microdeletion syndrome</td></tr><tr><td>251028</td><td>SATB2-associated syndrome due to a chromosomal rearrangement</td></tr><tr><td>251038</td><td>3q29 microduplication syndrome</td></tr><tr><td>251043</td><td>Ring chromosome 5 syndrome</td></tr><tr><td>251046</td><td>6p22 microdeletion syndrome</td></tr><tr><td>251056</td><td>6q25 microdeletion syndrome</td></tr><tr><td>251061</td><td>7q31 microdeletion syndrome</td></tr><tr><td>251066</td><td>8p11.2 deletion syndrome</td></tr><tr><td>251071</td><td>8p23.1 microdeletion syndrome</td></tr><tr><td>251076</td><td>8p23.1 duplication syndrome</td></tr><tr><td>2511</td><td>Microbrachycephaly-ptosis-cleft lip syndrome</td></tr><tr><td>2512</td><td>Autosomal recessive primary microcephaly</td></tr><tr><td>251262</td><td>Familial osteochondritis dissecans</td></tr><tr><td>251274</td><td>Familial hyperaldosteronism type III</td></tr><tr><td>251279</td><td>Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome</td></tr><tr><td>251282</td><td>Autosomal dominant spastic ataxia type 1</td></tr><tr><td>251287</td><td>Benign concentric annular macular dystrophy</td></tr><tr><td>251290</td><td>Parietal foramina with clavicular hypoplasia</td></tr><tr><td>251295</td><td>Pigmented paravenous retinochoroidal atrophy</td></tr><tr><td>2513</td><td>Microcephaly-albinism-digital anomalies syndrome</td></tr><tr><td>251304</td><td>Infantile onset panniculitis with uveitis and systemic granulomatosis</td></tr><tr><td>251307</td><td>Idiopathic recurrent pericarditis</td></tr><tr><td>251325</td><td>Drug-induced vasculitis</td></tr><tr><td>251328</td><td>Unclassified vasculitis</td></tr><tr><td>251332</td><td>Unexplained long-lasting fever/inflammatory syndrome</td></tr><tr><td>251347</td><td>Ataxia-telangiectasia-like disorder</td></tr><tr><td>251359</td><td>Sickle cell-beta-thalassemia disease syndrome</td></tr><tr><td>251365</td><td>Sickle cell-hemoglobin C disease syndrome</td></tr><tr><td>251370</td><td>Sickle cell-hemoglobin D disease syndrome</td></tr><tr><td>251375</td><td>Sickle cell-hemoglobin E disease syndrome</td></tr><tr><td>251380</td><td>Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome</td></tr><tr><td>251383</td><td>CK syndrome</td></tr><tr><td>251393</td><td>Localized junctional epidermolysis bullosa</td></tr><tr><td>2514</td><td>Autosomal dominant primary microcephaly</td></tr><tr><td>2515</td><td>Microcephaly-cardiomyopathy syndrome</td></tr><tr><td>251510</td><td>46,XY partial gonadal dysgenesis</td></tr><tr><td>251515</td><td>Distal arthrogryposis type 10</td></tr><tr><td>251523</td><td>Hyperzincemia and hypercalprotectinemia</td></tr><tr><td>251576</td><td>Gliosarcoma</td></tr><tr><td>251579</td><td>Giant cell glioblastoma</td></tr><tr><td>251582</td><td>Gliomatosis cerebri</td></tr><tr><td>251589</td><td>Anaplastic astrocytoma</td></tr><tr><td>251595</td><td>Diffuse astrocytoma</td></tr><tr><td>251598</td><td>Protoplasmic astrocytoma</td></tr><tr><td>2516</td><td>Microcephaly-cardiac defect-lung malsegmentation syndrome</td></tr><tr><td>251601</td><td>Fibrillary astrocytoma</td></tr><tr><td>251604</td><td>Gemistocytic astrocytoma</td></tr><tr><td>251607</td><td>Pleomorphic xanthoastrocytoma</td></tr><tr><td>251612</td><td>Pilocytic astrocytoma</td></tr><tr><td>251615</td><td>Pilomyxoid astrocytoma</td></tr><tr><td>251618</td><td>Subependymal giant cell astrocytoma</td></tr><tr><td>251623</td><td>Pituicytoma</td></tr><tr><td>251627</td><td>Oligodendroglioma</td></tr><tr><td>251630</td><td>Anaplastic oligodendroglioma</td></tr><tr><td>251636</td><td>Ependymoma</td></tr><tr><td>251639</td><td>Subependymoma</td></tr><tr><td>251643</td><td>Myxopapillary ependymoma</td></tr><tr><td>251646</td><td>Anaplastic ependymoma</td></tr><tr><td>251656</td><td>Oligoastrocytoma</td></tr><tr><td>251663</td><td>Anaplastic oligoastrocytoma</td></tr><tr><td>251671</td><td>Angiocentric glioma</td></tr><tr><td>251674</td><td>Chordoid glioma</td></tr><tr><td>251679</td><td>Astroblastoma</td></tr><tr><td>2518</td><td>Autosomal recessive chorioretinopathy-microcephaly syndrome</td></tr><tr><td>251855</td><td>Anaplastic/large cell medulloblastoma</td></tr><tr><td>251858</td><td>Medulloblastoma with extensive nodularity</td></tr><tr><td>251863</td><td>Desmoplastic/nodular medulloblastoma</td></tr><tr><td>251867</td><td>Classic medulloblastoma</td></tr><tr><td>251877</td><td>Ganglioneuroblastoma</td></tr><tr><td>251880</td><td>Ependymoblastoma</td></tr><tr><td>251883</td><td>Medulloepithelioma of the central nervous system</td></tr><tr><td>251899</td><td>Choroid plexus carcinoma</td></tr><tr><td>2519</td><td>Microcephaly-seizures-intellectual disability-heart disease syndrome</td></tr><tr><td>251902</td><td>Atypical papilloma of choroid plexus</td></tr><tr><td>251909</td><td>Pineoblastoma</td></tr><tr><td>251912</td><td>Pineocytoma</td></tr><tr><td>251915</td><td>Papillary tumor of the pineal region</td></tr><tr><td>251919</td><td>Pineal parenchymal tumor of intermediate differenciation</td></tr><tr><td>251927</td><td>Extraventricular neurocytoma</td></tr><tr><td>251931</td><td>Cerebellar liponeurocytoma</td></tr><tr><td>251937</td><td>Gangliocytoma</td></tr><tr><td>251940</td><td>Desmoplastic infantile astrocytoma/ganglioglioma</td></tr><tr><td>251946</td><td>Dysembryoplastic neuroepithelial tumor</td></tr><tr><td>251949</td><td>Ganglioglioma</td></tr><tr><td>251957</td><td>Anaplastic ganglioglioma</td></tr><tr><td>251962</td><td>Papillary glioneuronal tumor</td></tr><tr><td>251975</td><td>Rosette-forming glioneuronal tumor</td></tr><tr><td>251992</td><td>Ganglioneuroma</td></tr><tr><td>252006</td><td>Yolk sac tumor of central nervous system</td></tr><tr><td>252015</td><td>Choriocarcinoma of the central nervous system</td></tr><tr><td>252018</td><td>Teratoma of the central nervous system</td></tr><tr><td>252021</td><td>Mixed germ cell tumor of central nervous system</td></tr><tr><td>252031</td><td>Diffuse leptomeningeal melanocytosis</td></tr><tr><td>252046</td><td>Meningeal melanocytoma</td></tr><tr><td>252050</td><td>Primary melanoma of the central nervous system</td></tr><tr><td>252054</td><td>Hemangioblastoma</td></tr><tr><td>2521</td><td>Microcephaly-cleft palate-abnormal retinal pigmentation syndrome</td></tr><tr><td>252128</td><td>Malignant peripheral nerve sheath tumor with perineurial differentiation</td></tr><tr><td>252164</td><td>Benign schwannoma</td></tr><tr><td>252175</td><td>Vestibular schwannoma</td></tr><tr><td>252183</td><td>Neurofibroma</td></tr><tr><td>2522</td><td>Microcephaly-cervical spine fusion anomalies syndrome</td></tr><tr><td>252202</td><td>Constitutional mismatch repair deficiency syndrome</td></tr><tr><td>252206</td><td>Melanoma and neural system tumor syndrome</td></tr><tr><td>252212</td><td>Malignant triton tumor</td></tr><tr><td>2523</td><td>Microcephaly-brain defect-spasticity-hypernatremia syndrome</td></tr><tr><td>2524</td><td>Pontocerebellar hypoplasia type 2</td></tr><tr><td>2526</td><td>Microcephaly-lymphedema-chorioretinopathy syndrome</td></tr><tr><td>2528</td><td>Microcephaly-microcornea syndrome, Seemanova type</td></tr><tr><td>2533</td><td>Microcephaly-deafness-intellectual disability syndrome</td></tr><tr><td>2536</td><td>Microcornea-glaucoma-absent frontal sinuses syndrome</td></tr><tr><td>2538</td><td>Microgastria-limb reduction defect syndrome</td></tr><tr><td>254334</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type B</td></tr><tr><td>254343</td><td>Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome</td></tr><tr><td>254346</td><td>19p13.12 microdeletion syndrome</td></tr><tr><td>254351</td><td>Distal 7q11.23 microdeletion syndrome</td></tr><tr><td>254361</td><td>Plectin-related limb-girdle muscular dystrophy R17</td></tr><tr><td>254379</td><td>Linear lichen planus</td></tr><tr><td>254395</td><td>Actinic lichen planus</td></tr><tr><td>254411</td><td>Annular atrophic lichen planus</td></tr><tr><td>254424</td><td>Annular lichen planus</td></tr><tr><td>254449</td><td>Atrophic lichen planus</td></tr><tr><td>254463</td><td>Lichen planus pigmentosus</td></tr><tr><td>254478</td><td>Lichen planus pemphigoides</td></tr><tr><td>254492</td><td>Frontal fibrosing alopecia</td></tr><tr><td>254504</td><td>Inhalational botulism</td></tr><tr><td>254509</td><td>Iatrogenic botulism</td></tr><tr><td>254516</td><td>Temple syndrome</td></tr><tr><td>254519</td><td>Kagami-Ogata syndrome</td></tr><tr><td>254525</td><td>Temple syndrome due to paternal 14q32.2 microdeletion</td></tr><tr><td>254528</td><td>Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion</td></tr><tr><td>254531</td><td>Temple syndrome due to paternal 14q32.2 hypomethylation</td></tr><tr><td>254534</td><td>Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation</td></tr><tr><td>254688</td><td>Complete hydatidiform mole</td></tr><tr><td>254693</td><td>Partial hydatidiform mole</td></tr><tr><td>254698</td><td>Epithelioid trophoblastic tumor</td></tr><tr><td>2547</td><td>Microphthalmia-microtia-fetal akinesia syndrome</td></tr><tr><td>254704</td><td>Genetic hyperferritinemia without iron overload</td></tr><tr><td>254851</td><td>Mitochondrial DNA-related dystonia</td></tr><tr><td>254854</td><td>Pure mitochondrial myopathy</td></tr><tr><td>254857</td><td>Lethal infantile mitochondrial myopathy</td></tr><tr><td>254864</td><td>Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</td></tr><tr><td>254875</td><td>Mitochondrial DNA depletion syndrome, myopathic form</td></tr><tr><td>254881</td><td>Spinocerebellar ataxia with epilepsy</td></tr><tr><td>254886</td><td>Autosomal recessive progressive external ophthalmoplegia</td></tr><tr><td>254892</td><td>Autosomal dominant progressive external ophthalmoplegia</td></tr><tr><td>254898</td><td>Deafness-encephaloneuropathy-obesity-valvulopathy syndrome</td></tr><tr><td>2549</td><td>Oculoauriculovertebral spectrum with radial defects</td></tr><tr><td>254902</td><td>Renal tubulopathy-encephalopathy-liver failure syndrome</td></tr><tr><td>254905</td><td>Isolated cytochrome C oxidase deficiency</td></tr><tr><td>254913</td><td>Isolated ATP synthase deficiency</td></tr><tr><td>254920</td><td>Combined oxidative phosphorylation defect type 2</td></tr><tr><td>254925</td><td>Combined oxidative phosphorylation defect type 4</td></tr><tr><td>254930</td><td>Combined oxidative phosphorylation defect type 7</td></tr><tr><td>2551</td><td>Microspherophakia-metaphyseal dysplasia syndrome</td></tr><tr><td>255132</td><td>Adult-onset autosomal recessive sideroblastic anemia</td></tr><tr><td>255138</td><td>Pyruvate dehydrogenase E1-beta deficiency</td></tr><tr><td>255182</td><td>Pyruvate dehydrogenase E3-binding protein deficiency</td></tr><tr><td>2552</td><td>Microsporidiosis</td></tr><tr><td>255210</td><td>Mitochondrial DNA-associated Leigh syndrome</td></tr><tr><td>255229</td><td>Navajo neurohepatopathy</td></tr><tr><td>255235</td><td>Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy</td></tr><tr><td>2554</td><td>Ear-patella-short stature syndrome</td></tr><tr><td>2556</td><td>Microphthalmia with linear skin defects syndrome</td></tr><tr><td>2557</td><td>Mietens syndrome</td></tr><tr><td>2558</td><td>Mikati-Najjar-Sahli syndrome</td></tr><tr><td>256</td><td>Early-onset generalized limb-onset dystonia</td></tr><tr><td>2560</td><td>Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome</td></tr><tr><td>2561</td><td>Pyramidal molars-abnormal upper lip syndrome</td></tr><tr><td>2563</td><td>MOMO syndrome</td></tr><tr><td>2564</td><td>Tetramelic monodactyly</td></tr><tr><td>2565</td><td>Mononen-Karnes-Senac syndrome</td></tr><tr><td>2566</td><td>Chronic Epstein-Barr virus infection syndrome</td></tr><tr><td>257</td><td>Epidermolysis bullosa simplex with muscular dystrophy</td></tr><tr><td>2570</td><td>Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome</td></tr><tr><td>2571</td><td>X-linked immunoneurologic disorder</td></tr><tr><td>2572</td><td>Spastic ataxia-corneal dystrophy syndrome</td></tr><tr><td>2573</td><td>Moyamoya disease</td></tr><tr><td>2574</td><td>Moynahan syndrome</td></tr><tr><td>2575</td><td>Cystic fibrosis-gastritis-megaloblastic anemia syndrome</td></tr><tr><td>2576</td><td>Mulibrey nanism</td></tr><tr><td>2578</td><td>Mayer-Rokitansky-Küster-Hauser syndrome type 2</td></tr><tr><td>2579</td><td>Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome</td></tr><tr><td>258</td><td>Laminin subunit alpha 2-related congenital muscular dystrophy</td></tr><tr><td>2582</td><td>Myalgia-eosinophilia syndrome associated with tryptophan</td></tr><tr><td>2583</td><td>Mycetoma</td></tr><tr><td>2584</td><td>Classic mycosis fungoides</td></tr><tr><td>2585</td><td>Ataxia-pancytopenia syndrome</td></tr><tr><td>2587</td><td>Myeloperoxidase deficiency</td></tr><tr><td>2588</td><td>Myhre syndrome</td></tr><tr><td>2589</td><td>Myoclonus-cerebellar ataxia-deafness syndrome</td></tr><tr><td>2590</td><td>Spinal muscular atrophy-progressive myoclonic epilepsy syndrome</td></tr><tr><td>2591</td><td>Infantile myofibromatosis</td></tr><tr><td>2593</td><td>Tubular aggregate myopathy</td></tr><tr><td>2596</td><td>Myopathy and diabetes mellitus</td></tr><tr><td>25968</td><td>Benign occipital epilepsy</td></tr><tr><td>2597</td><td>Mitochondrial myopathy-lactic acidosis-deafness syndrome</td></tr><tr><td>2598</td><td>Mitochondrial myopathy and sideroblastic anemia</td></tr><tr><td>25980</td><td>X-linked myopathy with excessive autophagy</td></tr><tr><td>26</td><td>Methylmalonic acidemia with homocystinuria</td></tr><tr><td>260305</td><td>Autosomal recessive sideroblastic anemia</td></tr><tr><td>2604</td><td>Familial visceral myopathy</td></tr><tr><td>2608</td><td>N syndrome</td></tr><tr><td>2609</td><td>Isolated complex I deficiency</td></tr><tr><td>261</td><td>Emery-Dreifuss muscular dystrophy</td></tr><tr><td>26106</td><td>Hereditary diffuse gastric cancer</td></tr><tr><td>2611</td><td>Linear verrucous nevus syndrome</td></tr><tr><td>261102</td><td>Distal 7q11.23 microduplication syndrome</td></tr><tr><td>261112</td><td>Monosomy 9p</td></tr><tr><td>261120</td><td>14q11.2 microdeletion syndrome</td></tr><tr><td>261144</td><td>FOXG1 syndrome due to 14q12 microdeletion</td></tr><tr><td>261183</td><td>15q11.2 microdeletion syndrome</td></tr><tr><td>261190</td><td>15q14 microdeletion syndrome</td></tr><tr><td>261197</td><td>Proximal 16p11.2 microdeletion syndrome</td></tr><tr><td>2612</td><td>Linear nevus sebaceus syndrome</td></tr><tr><td>261204</td><td>16p11.2p12.2 microduplication syndrome</td></tr><tr><td>261211</td><td>16p11.2p12.2 microdeletion syndrome</td></tr><tr><td>261222</td><td>Distal 16p11.2 microdeletion syndrome</td></tr><tr><td>261229</td><td>14q11.2 microduplication syndrome</td></tr><tr><td>261236</td><td>16p13.11 microdeletion syndrome</td></tr><tr><td>261243</td><td>16p13.11 microduplication syndrome</td></tr><tr><td>261250</td><td>16q24.3 microdeletion syndrome</td></tr><tr><td>261257</td><td>Distal 17p13.3 microdeletion syndrome</td></tr><tr><td>261265</td><td>17q12 microdeletion syndrome</td></tr><tr><td>261272</td><td>17q12 microduplication syndrome</td></tr><tr><td>261279</td><td>17q23.1q23.2 microdeletion syndrome</td></tr><tr><td>261290</td><td>Trisomy 17p</td></tr><tr><td>261295</td><td>20p12.3 microdeletion syndrome</td></tr><tr><td>2613</td><td>Nail-patella-like renal disease</td></tr><tr><td>261304</td><td>Paternal 20q13.2q13.3 microdeletion syndrome</td></tr><tr><td>261311</td><td>20q13.33 microdeletion syndrome</td></tr><tr><td>261318</td><td>Trisomy 20p</td></tr><tr><td>261323</td><td>21q22.11q22.12 microdeletion syndrome</td></tr><tr><td>261330</td><td>Distal 22q11.2 microdeletion syndrome</td></tr><tr><td>261337</td><td>Distal 22q11.2 microduplication syndrome</td></tr><tr><td>261344</td><td>Trisomy 1q</td></tr><tr><td>261349</td><td>2p15p16.1 microdeletion syndrome</td></tr><tr><td>26137</td><td>Juvenile temporal arteritis</td></tr><tr><td>2614</td><td>Nail-patella syndrome</td></tr><tr><td>261476</td><td>Xp21 deletion syndrome</td></tr><tr><td>261483</td><td>Xq27.3q28 duplication syndrome</td></tr><tr><td>261494</td><td>Kleefstra syndrome</td></tr><tr><td>261501</td><td>Atypical Norrie disease due to Xp11.3 microdeletion</td></tr><tr><td>261519</td><td>Maternal uniparental disomy of chromosome X</td></tr><tr><td>261524</td><td>Paternal uniparental disomy of chromosome X</td></tr><tr><td>261529</td><td>Ring chromosome Y syndrome</td></tr><tr><td>261534</td><td>49,XXXYY syndrome</td></tr><tr><td>261537</td><td>Mowat-Wilson syndrome due to monosomy 2q22</td></tr><tr><td>261552</td><td>Mowat-Wilson syndrome due to a ZEB2 point mutation</td></tr><tr><td>261584</td><td>Familial adenomatous polyposis due to 5q22.2 microdeletion</td></tr><tr><td>2616</td><td>3M syndrome</td></tr><tr><td>261600</td><td>Alagille syndrome due to 20p12 microdeletion</td></tr><tr><td>261619</td><td>Alagille syndrome due to a JAG1 point mutation</td></tr><tr><td>261629</td><td>Alagille syndrome due to a NOTCH2 point mutation</td></tr><tr><td>261638</td><td>Okihiro syndrome due to 20q13 microdeletion</td></tr><tr><td>261647</td><td>Okihiro syndrome due to a point mutation</td></tr><tr><td>261652</td><td>Kleefstra syndrome due to a point mutation</td></tr><tr><td>2617</td><td>Microcephalic primordial dwarfism, Montreal type</td></tr><tr><td>2619</td><td>Brachydactylous dwarfism, Mseleni type</td></tr><tr><td>2623</td><td>Geleophysic dysplasia</td></tr><tr><td>2631</td><td>Mesomelic dwarfism-cleft palate-camptodactyly syndrome</td></tr><tr><td>2632</td><td>Langer mesomelic dysplasia</td></tr><tr><td>263297</td><td>Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency</td></tr><tr><td>2633</td><td>Mesomelic dysplasia, Nievergelt type</td></tr><tr><td>263310</td><td>Thymoma type A</td></tr><tr><td>263317</td><td>Thymoma type B</td></tr><tr><td>263324</td><td>Thymoma type AB</td></tr><tr><td>263331</td><td>Well-differentiated thymic neuroendocrine carcinoma</td></tr><tr><td>263335</td><td>Moderately-differentiated thymic neuroendocrine carcinoma</td></tr><tr><td>263339</td><td>Poorly differentiated thymic neuroendocrine carcinoma</td></tr><tr><td>263347</td><td>MRCS syndrome</td></tr><tr><td>263352</td><td>Postcardiotomy right ventricular failure</td></tr><tr><td>2634</td><td>Mesomelic dwarfism, Reinhardt-Pfeiffer type</td></tr><tr><td>263410</td><td>Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome</td></tr><tr><td>263413</td><td>Angiosarcoma</td></tr><tr><td>263425</td><td>Nevus of Ota</td></tr><tr><td>263432</td><td>Nevus of Ito</td></tr><tr><td>263435</td><td>Congenital smooth muscle hamartoma</td></tr><tr><td>263455</td><td>Congenital hyperinsulinism due to HNF4A deficiency</td></tr><tr><td>263458</td><td>Hyperinsulinism due to INSR deficiency</td></tr><tr><td>263463</td><td>CHST3-related skeletal dysplasia</td></tr><tr><td>263479</td><td>Fuchs heterochromic iridocyclitis</td></tr><tr><td>26348</td><td>Acquired prothrombin deficiency</td></tr><tr><td>263482</td><td>Spondyloepiphyseal dysplasia, Maroteaux type</td></tr><tr><td>263487</td><td>COG5-CDG</td></tr><tr><td>26349</td><td>Protein S acquired deficiency</td></tr><tr><td>263494</td><td>DPM3-CDG</td></tr><tr><td>2635</td><td>Metatropic dysplasia</td></tr><tr><td>263501</td><td>COG4-CDG</td></tr><tr><td>263508</td><td>COG1-CDG</td></tr><tr><td>263516</td><td>Progressive myoclonic epilepsy type 3</td></tr><tr><td>263524</td><td>Acute necrotizing encephalopathy of childhood</td></tr><tr><td>263534</td><td>Acral peeling skin syndrome</td></tr><tr><td>263543</td><td>Generalized peeling skin syndrome</td></tr><tr><td>263548</td><td>Peeling skin syndrome type A</td></tr><tr><td>263553</td><td>Peeling skin syndrome type B</td></tr><tr><td>2636</td><td>Microcephalic osteodysplastic primordial dwarfism types I and III</td></tr><tr><td>263662</td><td>Familial multiple meningioma</td></tr><tr><td>263665</td><td>NK-cell enteropathy</td></tr><tr><td>2637</td><td>Microcephalic osteodysplastic primordial dwarfism type II</td></tr><tr><td>2639</td><td>Fibular aplasia-complex brachydactyly syndrome</td></tr><tr><td>264200</td><td>14q22q23 microdeletion syndrome</td></tr><tr><td>2643</td><td>Microcephalic primordial dwarfism, Toriello type</td></tr><tr><td>264450</td><td>Trisomy 8p</td></tr><tr><td>2645</td><td>Osteoglosphonic dysplasia</td></tr><tr><td>264580</td><td>Glycogen storage disease due to liver phosphorylase kinase deficiency</td></tr><tr><td>2646</td><td>Parastremmatic dwarfism</td></tr><tr><td>264675</td><td>Hereditary pulmonary alveolar proteinosis</td></tr><tr><td>264688</td><td>Congenital chylothorax</td></tr><tr><td>264691</td><td>Isolated pulmonary capillaritis</td></tr><tr><td>264978</td><td>Drug or radiation exposure-related interstitial lung disease</td></tr><tr><td>2653</td><td>Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome</td></tr><tr><td>2655</td><td>Thanatophoric dysplasia</td></tr><tr><td>2658</td><td>Lenz-Majewski hyperostotic dwarfism</td></tr><tr><td>266</td><td>Autosomal dominant limb-girdle muscular dystrophy type 1A</td></tr><tr><td>2662</td><td>Keipert syndrome</td></tr><tr><td>2663</td><td>Nathalie syndrome</td></tr><tr><td>2665</td><td>Congenital mesoblastic nephroma</td></tr><tr><td>2666</td><td>Adult familial nephronophthisis-spastic quadriparesia syndrome</td></tr><tr><td>2668</td><td>Nephropathy-deafness-hyperparathyroidism syndrome</td></tr><tr><td>2669</td><td>Nephrosis-deafness-urinary tract-digital malformations syndrome</td></tr><tr><td>267</td><td>Calpain-3-related limb-girdle muscular dystrophy R1</td></tr><tr><td>2670</td><td>Pierson syndrome</td></tr><tr><td>2671</td><td>Neu-Laxova syndrome</td></tr><tr><td>2672</td><td>Neuhauser-Eichner-Opitz syndrome</td></tr><tr><td>2673</td><td>Neurofaciodigitorenal syndrome</td></tr><tr><td>2674</td><td>Cyprus facial-neuromusculoskeletal syndrome</td></tr><tr><td>2678</td><td>Familial isolated café-au-lait macules</td></tr><tr><td>26790</td><td>Pseudomyxoma peritonei</td></tr><tr><td>26791</td><td>Multiple acyl-CoA dehydrogenase deficiency</td></tr><tr><td>26792</td><td>Short chain acyl-CoA dehydrogenase deficiency</td></tr><tr><td>26793</td><td>Very long chain acyl-CoA dehydrogenase deficiency</td></tr><tr><td>268</td><td>Dysferlin-related limb-girdle muscular dystrophy R2</td></tr><tr><td>2680</td><td>Hypomyelination neuropathy-arthrogryposis syndrome</td></tr><tr><td>268114</td><td>RAS-associated autoimmune leukoproliferative disease</td></tr><tr><td>268129</td><td>Spheroid body myopathy</td></tr><tr><td>268139</td><td>Intraocular medulloepithelioma</td></tr><tr><td>268145</td><td>Classic maple syrup urine disease</td></tr><tr><td>268162</td><td>Intermediate maple syrup urine disease</td></tr><tr><td>268173</td><td>Intermittent maple syrup urine disease</td></tr><tr><td>268184</td><td>Thiamine-responsive maple syrup urine disease</td></tr><tr><td>268249</td><td>Mycophenolate mofetil embryopathy</td></tr><tr><td>268261</td><td>DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion</td></tr><tr><td>268316</td><td>Complication in hemodialysis</td></tr><tr><td>268322</td><td>Hereditary thrombocytopenia with normal platelets</td></tr><tr><td>268363</td><td>Open iniencephaly</td></tr><tr><td>268366</td><td>Closed iniencephaly</td></tr><tr><td>2686</td><td>Cyclic neutropenia</td></tr><tr><td>2688</td><td>Adult idiopathic neutropenia</td></tr><tr><td>268810</td><td>Isolated posterior meningocele</td></tr><tr><td>268820</td><td>Cranial meningocele</td></tr><tr><td>268823</td><td>Occipital encephalocele</td></tr><tr><td>268826</td><td>Parietal encephalocele</td></tr><tr><td>268829</td><td>Basal encephalocele</td></tr><tr><td>268861</td><td>Primary tethered cord syndrome</td></tr><tr><td>268865</td><td>Neurenteric cyst</td></tr><tr><td>268868</td><td>Isolated amyelia</td></tr><tr><td>268882</td><td>Arnold-Chiari malformation type I</td></tr><tr><td>268920</td><td>Isolated megalencephaly</td></tr><tr><td>268936</td><td>Isolated arhinencephaly</td></tr><tr><td>268940</td><td>Bilateral polymicrogyria</td></tr><tr><td>268943</td><td>Unilateral polymicrogyria</td></tr><tr><td>268947</td><td>Unilateral focal polymicrogyria</td></tr><tr><td>268961</td><td>Isolated focal cortical dysplasia type I</td></tr><tr><td>268973</td><td>Isolated focal cortical dysplasia type Ia</td></tr><tr><td>268980</td><td>Isolated focal cortical dysplasia type Ib</td></tr><tr><td>268987</td><td>Isolated focal cortical dysplasia type Ic</td></tr><tr><td>268994</td><td>Isolated focal cortical dysplasia type II</td></tr><tr><td>269</td><td>Facioscapulohumeral dystrophy</td></tr><tr><td>2690</td><td>Neutropenia-monocytopenia-deafness syndrome</td></tr><tr><td>269001</td><td>Isolated focal cortical dysplasia type IIa</td></tr><tr><td>269008</td><td>Isolated focal cortical dysplasia type IIb</td></tr><tr><td>269197</td><td>Glioependymal/ependymal cyst</td></tr><tr><td>269203</td><td>Isolated cerebellar vermis agenesis</td></tr><tr><td>269206</td><td>Isolated total cerebellar vermis agenesis</td></tr><tr><td>269209</td><td>Isolated partial cerebellar vermis agenesis</td></tr><tr><td>269212</td><td>Isolated Dandy-Walker malformation with hydrocephalus</td></tr><tr><td>269215</td><td>Isolated Dandy-Walker malformation without hydrocephalus</td></tr><tr><td>269218</td><td>Isolated unilateral hemispheric cerebellar hypoplasia</td></tr><tr><td>269221</td><td>Isolated bilateral hemispheric cerebellar hypoplasia</td></tr><tr><td>269229</td><td>Pontine tegmental cap dysplasia</td></tr><tr><td>2695</td><td>Bifid nose</td></tr><tr><td>269505</td><td>Congenital communicating hydrocephalus</td></tr><tr><td>269510</td><td>Congenital non-communicating hydrocephalus</td></tr><tr><td>2697</td><td>Arthrogryposis-renal dysfunction-cholestasis syndrome</td></tr><tr><td>2698</td><td>Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome</td></tr><tr><td>2699</td><td>Median nodule of the upper lip</td></tr><tr><td>27</td><td>Vitamin B12-unresponsive methylmalonic acidemia</td></tr><tr><td>270</td><td>Oculopharyngeal muscular dystrophy</td></tr><tr><td>2700</td><td>Noma</td></tr><tr><td>2701</td><td>Noonan syndrome-like disorder with loose anagen hair</td></tr><tr><td>2703</td><td>Port-wine nevi-mega cisterna magna-hydrocephalus syndrome</td></tr><tr><td>2704</td><td>Ochoa syndrome</td></tr><tr><td>2707</td><td>Oculocerebrofacial syndrome, Kaufman type</td></tr><tr><td>2709</td><td>Oculodental syndrome, Rutherfurd type</td></tr><tr><td>2710</td><td>Oculodentodigital dysplasia</td></tr><tr><td>2712</td><td>Oculofaciocardiodental syndrome</td></tr><tr><td>2713</td><td>Oculoosteocutaneous syndrome</td></tr><tr><td>2714</td><td>Oculo-palato-cerebral syndrome</td></tr><tr><td>2715</td><td>Severe oculo-renal-cerebellar syndrome</td></tr><tr><td>2717</td><td>Oculotrichoanal syndrome</td></tr><tr><td>2718</td><td>Oculotrichodysplasia</td></tr><tr><td>2719</td><td>Oculocerebral hypopigmentation syndrome, Cross type</td></tr><tr><td>272</td><td>Congenital muscular dystrophy, Fukuyama type</td></tr><tr><td>2720</td><td>Oculocerebral hypopigmentation syndrome, Preus type</td></tr><tr><td>2721</td><td>Odonto-onycho-dermal dysplasia</td></tr><tr><td>2722</td><td>Odonto-onycho dysplasia-alopecia syndrome</td></tr><tr><td>2723</td><td>Odontotrichomelic syndrome</td></tr><tr><td>2724</td><td>Odontomatosis-aortae esophagus stenosis syndrome</td></tr><tr><td>2728</td><td>Blepharophimosis-intellectual disability syndrome, Ohdo type</td></tr><tr><td>2729</td><td>Okamoto syndrome</td></tr><tr><td>273</td><td>Steinert myotonic dystrophy</td></tr><tr><td>2730</td><td>Postaxial tetramelic oligodactyly</td></tr><tr><td>2732</td><td>Olivopontocerebellar atrophy-deafness syndrome</td></tr><tr><td>2733</td><td>Omodysplasia</td></tr><tr><td>2736</td><td>Lethal omphalocele-cleft palate syndrome</td></tr><tr><td>2737</td><td>Onchocerciasis</td></tr><tr><td>274</td><td>Bernard-Soulier syndrome</td></tr><tr><td>2741</td><td>Ophthalmomandibulomelic dysplasia</td></tr><tr><td>2743</td><td>Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome</td></tr><tr><td>2744</td><td>Horizontal gaze palsy with progressive scoliosis</td></tr><tr><td>2745</td><td>Opitz GBBB syndrome</td></tr><tr><td>2746</td><td>Opsismodysplasia</td></tr><tr><td>275</td><td>Severe combined immunodeficiency due to DCLRE1C deficiency</td></tr><tr><td>2750</td><td>Orofaciodigital syndrome type 1</td></tr><tr><td>2751</td><td>Orofaciodigital syndrome type 2</td></tr><tr><td>2752</td><td>Orofaciodigital syndrome type 3</td></tr><tr><td>2753</td><td>Orofaciodigital syndrome type 4</td></tr><tr><td>2754</td><td>Orofaciodigital syndrome type 6</td></tr><tr><td>2755</td><td>Orofaciodigital syndrome type 8</td></tr><tr><td>275517</td><td>Autoimmune lymphoproliferative syndrome with recurrent viral infections</td></tr><tr><td>275523</td><td>Dianzani autoimmune lymphoproliferative disease</td></tr><tr><td>275543</td><td>L1 syndrome</td></tr><tr><td>275555</td><td>Preeclampsia</td></tr><tr><td>2756</td><td>Orofaciodigital syndrome type 10</td></tr><tr><td>275761</td><td>Lysosomal acid lipase deficiency</td></tr><tr><td>275766</td><td>Idiopathic pulmonary arterial hypertension</td></tr><tr><td>275777</td><td>Heritable pulmonary arterial hypertension</td></tr><tr><td>275864</td><td>Behavioral variant of frontotemporal dementia</td></tr><tr><td>275872</td><td>Frontotemporal dementia with motor neuron disease</td></tr><tr><td>2759</td><td>Imperforate oropharynx-costovertebral anomalies syndrome</td></tr><tr><td>275944</td><td>Hemolytic disease of the newborn with Kell alloimmunization</td></tr><tr><td>276</td><td>T-B+ severe combined immunodeficiency due to gamma chain deficiency</td></tr><tr><td>2760</td><td>OSLAM syndrome</td></tr><tr><td>276066</td><td>Bile acid CoA ligase deficiency and defective amidation</td></tr><tr><td>276145</td><td>Malignant epithelial tumor of salivary glands</td></tr><tr><td>276148</td><td>Benign epithelial tumor of salivary glands</td></tr><tr><td>276152</td><td>Multiple endocrine neoplasia type 4</td></tr><tr><td>276174</td><td>Idiopathic recurrent stupor</td></tr><tr><td>276183</td><td>Spinocerebellar ataxia type 32</td></tr><tr><td>276193</td><td>Spinocerebellar ataxia type 35</td></tr><tr><td>276198</td><td>Spinocerebellar ataxia type 36</td></tr><tr><td>2762</td><td>Progressive osseous heteroplasia</td></tr><tr><td>276212</td><td>Mucopolysaccharidosis type 6, rapidly progressing</td></tr><tr><td>276223</td><td>Mucopolysaccharidosis type 6, slowly progressing</td></tr><tr><td>276234</td><td>Non-syndromic male infertility due to sperm motility disorder</td></tr><tr><td>276238</td><td>Machado-Joseph disease type 1</td></tr><tr><td>276241</td><td>Machado-Joseph disease type 2</td></tr><tr><td>276244</td><td>Machado-Joseph disease type 3</td></tr><tr><td>276280</td><td>Hemihyperplasia-multiple lipomatosis syndrome</td></tr><tr><td>2763</td><td>Osteocraniostenosis</td></tr><tr><td>276399</td><td>Familial multinodular goiter</td></tr><tr><td>2764</td><td>Osteochondritis dissecans</td></tr><tr><td>276405</td><td>Hyperbiliverdinemia</td></tr><tr><td>276413</td><td>10q22.3q23.3 microdeletion syndrome</td></tr><tr><td>276422</td><td>10q22.3q23.3 microduplication syndrome</td></tr><tr><td>276429</td><td>Hypnic headache</td></tr><tr><td>276432</td><td>Ogden syndrome</td></tr><tr><td>276435</td><td>Lower motor neuron syndrome with late-adult onset</td></tr><tr><td>276556</td><td>Hyperinsulinism due to UCP2 deficiency</td></tr><tr><td>276575</td><td>Autosomal dominant hyperinsulinism due to SUR1 deficiency</td></tr><tr><td>276580</td><td>Autosomal dominant hyperinsulinism due to Kir6.2 deficiency</td></tr><tr><td>276598</td><td>Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency</td></tr><tr><td>276603</td><td>Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency</td></tr><tr><td>276608</td><td>Non-insulinoma pancreatogenous hypoglycemia syndrome</td></tr><tr><td>276621</td><td>Sporadic pheochromocytoma/secreting paraganglioma</td></tr><tr><td>276630</td><td>Symptomatic form of Coffin-Lowry syndrome in female carriers</td></tr><tr><td>2767</td><td>Carpotarsal osteochondromatosis</td></tr><tr><td>2768</td><td>Blount disease</td></tr><tr><td>2769</td><td>Familial osteodysplasia, Anderson type</td></tr><tr><td>277</td><td>Severe combined immunodeficiency due to adenosine deaminase deficiency</td></tr><tr><td>2770</td><td>Nasu-Hakola disease</td></tr><tr><td>2771</td><td>Bruck syndrome</td></tr><tr><td>2772</td><td>Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome</td></tr><tr><td>2773</td><td>Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome</td></tr><tr><td>2774</td><td>Multicentric carpo-tarsal osteolysis with or without nephropathy</td></tr><tr><td>2776</td><td>Autosomal recessive distal osteolysis syndrome</td></tr><tr><td>2777</td><td>Osteomesopyknosis</td></tr><tr><td>2779</td><td>Osteopathia striata-pigmentary dermopathy-white forelock syndrome</td></tr><tr><td>2780</td><td>Osteopathia striata-cranial sclerosis syndrome</td></tr><tr><td>2783</td><td>Autosomal dominant osteopetrosis type 1</td></tr><tr><td>2785</td><td>Osteopetrosis with renal tubular acidosis</td></tr><tr><td>2786</td><td>Osteoporosis-oculocutaneous hypopigmentation syndrome</td></tr><tr><td>2787</td><td>Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome</td></tr><tr><td>2788</td><td>Osteoporosis-pseudoglioma syndrome</td></tr><tr><td>2789</td><td>Lateral meningocele syndrome</td></tr><tr><td>2790</td><td>Endosteal hyperostosis, Worth type</td></tr><tr><td>2791</td><td>Otodental syndrome</td></tr><tr><td>2792</td><td>Otofaciocervical syndrome</td></tr><tr><td>2793</td><td>Otoonychoperoneal syndrome</td></tr><tr><td>2795</td><td>Fowler urethral sphincter dysfunction syndrome</td></tr><tr><td>2796</td><td>Pachydermoperiostosis</td></tr><tr><td>2798</td><td>Pachygyria-intellectual disability-epilepsy syndrome</td></tr><tr><td>279882</td><td>Spasmus nutans</td></tr><tr><td>279888</td><td>Acute endophthalmitis</td></tr><tr><td>279891</td><td>Chronic endophthalmitis</td></tr><tr><td>279894</td><td>Toxic maculopathy due to antimalarial drugs</td></tr><tr><td>279897</td><td>Primary oculocerebral lymphoma</td></tr><tr><td>279904</td><td>Primary intraocular lymphoma</td></tr><tr><td>279914</td><td>Intermediate uveitis</td></tr><tr><td>279919</td><td>Infectious posterior uveitis</td></tr><tr><td>279922</td><td>Infectious anterior uveitis</td></tr><tr><td>279925</td><td>Infectious panuveitis</td></tr><tr><td>279928</td><td>Paraneoplastic uveitis</td></tr><tr><td>279934</td><td>Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency</td></tr><tr><td>279943</td><td>Hereditary neutrophilia</td></tr><tr><td>279947</td><td>Postorgasmic illness syndrome</td></tr><tr><td>28</td><td>Vitamin B12-responsive methylmalonic acidemia</td></tr><tr><td>280</td><td>Wolf-Hirschhorn syndrome</td></tr><tr><td>2800</td><td>Extramammary Paget disease</td></tr><tr><td>280062</td><td>Calciphylaxis</td></tr><tr><td>280065</td><td>Calciphylaxis cutis</td></tr><tr><td>280068</td><td>Visceral calciphylaxis</td></tr><tr><td>280071</td><td>ALG11-CDG</td></tr><tr><td>2801</td><td>Juvenile Paget disease</td></tr><tr><td>280133</td><td>Complement component 3 deficiency</td></tr><tr><td>280142</td><td>Severe combined immunodeficiency due to LCK deficiency</td></tr><tr><td>280183</td><td>Methylmalonic aciduria due to transcobalamin receptor defect</td></tr><tr><td>280195</td><td>Septopreoptic holoprosencephaly</td></tr><tr><td>2802</td><td>X-linked sideroblastic anemia and spinocerebellar ataxia</td></tr><tr><td>280200</td><td>Microform holoprosencephaly</td></tr><tr><td>280205</td><td>Laryngotracheoesophageal cleft type 0</td></tr><tr><td>280210</td><td>Pelizaeus-Merzbacher disease, connatal form</td></tr><tr><td>280219</td><td>Pelizaeus-Merzbacher disease, classic form</td></tr><tr><td>280224</td><td>Pelizaeus-Merzbacher disease, transitional form</td></tr><tr><td>280229</td><td>Pelizaeus-Merzbacher disease in female carriers</td></tr><tr><td>280234</td><td>Null syndrome</td></tr><tr><td>280270</td><td>Pelizaeus-Merzbacher-like disease</td></tr><tr><td>280282</td><td>Pelizaeus-Merzbacher-like disease due to GJC2 mutation</td></tr><tr><td>280288</td><td>Pelizaeus-Merzbacher-like disease due to HSPD1 mutation</td></tr><tr><td>280293</td><td>Pelizaeus-Merzbacher-like disease due to AIMP1 mutation</td></tr><tr><td>280302</td><td>Autoimmune pancreatitis type 1</td></tr><tr><td>280315</td><td>Autoimmune pancreatitis type 2</td></tr><tr><td>280325</td><td>Distal deletion 12p</td></tr><tr><td>280333</td><td>Alpha-dystroglycan-related limb-girdle muscular dystrophy R16</td></tr><tr><td>280356</td><td>PLIN1-related familial partial lipodystrophy</td></tr><tr><td>280365</td><td>Autosomal semi-dominant severe lipodystrophic laminopathy</td></tr><tr><td>280379</td><td>Erythropoietic uroporphyria associated with myeloid malignancy</td></tr><tr><td>280384</td><td>Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome</td></tr><tr><td>280397</td><td>Familial Alzheimer-like prion disease</td></tr><tr><td>2804</td><td>W syndrome</td></tr><tr><td>280403</td><td>Familial omphalocele syndrome with facial dysmorphism</td></tr><tr><td>280406</td><td>Familial steroid-resistant nephrotic syndrome with sensorineural deafness</td></tr><tr><td>2805</td><td>Partial pancreatic agenesis</td></tr><tr><td>280553</td><td>Fatal infantile hypertonic myofibrillar myopathy</td></tr><tr><td>280558</td><td>Warsaw breakage syndrome</td></tr><tr><td>280576</td><td>Nestor-Guillermo progeria syndrome</td></tr><tr><td>280586</td><td>Chondrodysplasia with joint dislocations, gPAPP type</td></tr><tr><td>280598</td><td>Hereditary sensorimotor neuropathy with hyperelastic skin</td></tr><tr><td>2806</td><td>Subacute sclerosing leukoencephalitis</td></tr><tr><td>280615</td><td>Hemoglobinopathy Toms River</td></tr><tr><td>280620</td><td>Progressive myoclonic epilepsy type 6</td></tr><tr><td>280628</td><td>Familial progressive hyper- and hypopigmentation</td></tr><tr><td>280633</td><td>Multiple congenital anomalies-hypotonia-seizures syndrome</td></tr><tr><td>280640</td><td>Occipital pachygyria and polymicrogyria</td></tr><tr><td>280654</td><td>Autosomal recessive nail dysplasia</td></tr><tr><td>280671</td><td>Megaconial congenital muscular dystrophy</td></tr><tr><td>280679</td><td>Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</td></tr><tr><td>2807</td><td>Papilloma of choroid plexus</td></tr><tr><td>280763</td><td>Severe intellectual disability and progressive spastic paraplegia</td></tr><tr><td>280774</td><td>Generalized essential telangiectasia</td></tr><tr><td>280779</td><td>Cutaneous collagenous vasculopathy</td></tr><tr><td>280785</td><td>Bullous diffuse cutaneous mastocytosis</td></tr><tr><td>280794</td><td>Pseudoxanthomatous diffuse cutaneous mastocytosis</td></tr><tr><td>2808</td><td>Laryngeal abductor paralysis</td></tr><tr><td>280802</td><td>Intralobar congenital pulmonary sequestration</td></tr><tr><td>280811</td><td>Extralobar congenital pulmonary sequestration</td></tr><tr><td>280821</td><td>Communicating congenital bronchopulmonary-foregut malformation</td></tr><tr><td>280827</td><td>Congenital pulmonary airway malformation type 0</td></tr><tr><td>280832</td><td>Congenital pulmonary airway malformation type 1</td></tr><tr><td>280840</td><td>Congenital pulmonary airway malformation type 2</td></tr><tr><td>280847</td><td>Congenital pulmonary airway malformation type 3</td></tr><tr><td>280854</td><td>Congenital pulmonary airway malformation type 4</td></tr><tr><td>2809</td><td>Familial recurrent peripheral facial palsy</td></tr><tr><td>280917</td><td>Idiopathic posterior uveitis</td></tr><tr><td>280921</td><td>Idiopathic panuveitis</td></tr><tr><td>281</td><td>Monosomy 5p</td></tr><tr><td>281090</td><td>Syndromic recessive X-linked ichthyosis</td></tr><tr><td>281122</td><td>Self-improving collodion baby</td></tr><tr><td>281127</td><td>Acral self-healing collodion baby</td></tr><tr><td>281139</td><td>Annular epidermolytic ichthyosis</td></tr><tr><td>281190</td><td>Congenital reticular ichthyosiform erythroderma</td></tr><tr><td>2812</td><td>Parana hard skin syndrome</td></tr><tr><td>281201</td><td>Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome</td></tr><tr><td>2815</td><td>Spastic paraparesis-deafness syndrome</td></tr><tr><td>2818</td><td>Spastic paraplegia-glaucoma-intellectual disability syndrome</td></tr><tr><td>2819</td><td>Spastic paraplegia-facial-cutaneous lesions syndrome</td></tr><tr><td>2820</td><td>Spastic paraplegia-nephritis-deafness syndrome</td></tr><tr><td>2821</td><td>Spastic paraplegia-neuropathy-poikiloderma syndrome</td></tr><tr><td>282166</td><td>Inherited Creutzfeldt-Jakob disease</td></tr><tr><td>2822</td><td>Autosomal recessive spastic paraplegia type 11</td></tr><tr><td>2824</td><td>Paraplegia-intellectual disability-hyperkeratosis syndrome</td></tr><tr><td>2825</td><td>PARC syndrome</td></tr><tr><td>2826</td><td>Spastic paraplegia-precocious puberty syndrome</td></tr><tr><td>2828</td><td>Young-onset Parkinson disease</td></tr><tr><td>283</td><td>Demodicidosis</td></tr><tr><td>2831</td><td>Rhizomelic dysplasia, Patterson-Lowry type</td></tr><tr><td>2832</td><td>Short tarsus-absence of lower eyelashes syndrome</td></tr><tr><td>2833</td><td>Stiff skin syndrome</td></tr><tr><td>2834</td><td>Wrinkly skin syndrome</td></tr><tr><td>2835</td><td>Pectus excavatum-macrocephaly-dysplastic nails syndrome</td></tr><tr><td>2836</td><td>PEHO syndrome</td></tr><tr><td>28378</td><td>Tyrosinemia type 2</td></tr><tr><td>2838</td><td>Renal caliceal diverticuli-deafness syndrome</td></tr><tr><td>2839</td><td>Pelvis-shoulder dysplasia</td></tr><tr><td>284</td><td>Alveolar echinococcosis</td></tr><tr><td>2840</td><td>Pelvic dysplasia-arthrogryposis of lower limbs syndrome</td></tr><tr><td>2841</td><td>Familial benign chronic pemphigus</td></tr><tr><td>284139</td><td>Larsen-like syndrome, B3GAT3 type</td></tr><tr><td>284149</td><td>Craniosynostosis-dental anomalies</td></tr><tr><td>284160</td><td>8q21.11 microdeletion syndrome</td></tr><tr><td>284169</td><td>Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion</td></tr><tr><td>284180</td><td>Xp22.13p22.2 duplication syndrome</td></tr><tr><td>2842</td><td>Penoscrotal transposition</td></tr><tr><td>284227</td><td>TEMPI syndrome</td></tr><tr><td>284232</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2O</td></tr><tr><td>284247</td><td>Familial retinal arterial macroaneurysm</td></tr><tr><td>284271</td><td>Autosomal recessive cerebellar ataxia-psychomotor delay syndrome</td></tr><tr><td>284282</td><td>Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency</td></tr><tr><td>284289</td><td>Adult-onset autosomal recessive cerebellar ataxia</td></tr><tr><td>2843</td><td>Pentosuria</td></tr><tr><td>284324</td><td>Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia</td></tr><tr><td>284332</td><td>Infantile-onset autosomal recessive nonprogressive cerebellar ataxia</td></tr><tr><td>284339</td><td>Pontocerebellar hypoplasia type 7</td></tr><tr><td>284343</td><td>DICER1 tumor-predisposition syndrome</td></tr><tr><td>284362</td><td>Fetal lung interstitial tumor</td></tr><tr><td>284388</td><td>Reversible cerebral vasoconstriction syndrome</td></tr><tr><td>284395</td><td>Well-differentiated fetal adenocarcinoma of the lung</td></tr><tr><td>284400</td><td>Small cell carcinoma of the bladder</td></tr><tr><td>284411</td><td>Glycerol kinase deficiency, juvenile form</td></tr><tr><td>284414</td><td>Glycerol kinase deficiency, adult form</td></tr><tr><td>284417</td><td>Phosphoserine aminotransferase deficiency, infantile/juvenile form</td></tr><tr><td>284426</td><td>Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</td></tr><tr><td>284435</td><td>Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency</td></tr><tr><td>284448</td><td>CLIPPERS</td></tr><tr><td>284454</td><td>Acute zonal occult outer retinopathy</td></tr><tr><td>284460</td><td>Acute annular outer retinopathy</td></tr><tr><td>2847</td><td>Pericardial and diaphragmatic defect</td></tr><tr><td>2848</td><td>Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome</td></tr><tr><td>2849</td><td>Perlman syndrome</td></tr><tr><td>284963</td><td>Marfan syndrome type 1</td></tr><tr><td>284973</td><td>Marfan syndrome type 2</td></tr><tr><td>284979</td><td>Neonatal Marfan syndrome</td></tr><tr><td>284984</td><td>Aneurysm-osteoarthritis syndrome</td></tr><tr><td>285</td><td>Hypermobile Ehlers-Danlos syndrome</td></tr><tr><td>2850</td><td>Alopecia-intellectual disability syndrome</td></tr><tr><td>2854</td><td>Fuhrmann syndrome</td></tr><tr><td>2855</td><td>Perrault syndrome</td></tr><tr><td>2856</td><td>Persistent Müllerian duct syndrome</td></tr><tr><td>286</td><td>Vascular Ehlers-Danlos syndrome</td></tr><tr><td>2863</td><td>Short stature-wormian bones-dextrocardia syndrome</td></tr><tr><td>2865</td><td>Short stature-webbed neck-heart disease syndrome</td></tr><tr><td>2866</td><td>Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome</td></tr><tr><td>2867</td><td>Short stature, Brussels type</td></tr><tr><td>2868</td><td>Short stature-valvular heart disease-characteristic facies syndrome</td></tr><tr><td>2869</td><td>Peutz-Jeghers syndrome</td></tr><tr><td>287</td><td>Classical Ehlers-Danlos syndrome</td></tr><tr><td>2871</td><td>Pfeiffer-Palm-Teller syndrome</td></tr><tr><td>2872</td><td>Cardiocranial syndrome, Pfeiffer type</td></tr><tr><td>2874</td><td>Phakomatosis pigmentokeratotica</td></tr><tr><td>2875</td><td>Phakomatosis pigmentovascularis</td></tr><tr><td>2876</td><td>PHAVER syndrome</td></tr><tr><td>2878</td><td>Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome</td></tr><tr><td>2879</td><td>Phocomelia, Schinzel type</td></tr><tr><td>288</td><td>Hereditary elliptocytosis</td></tr><tr><td>2880</td><td>Phosphoenolpyruvate carboxykinase deficiency</td></tr><tr><td>2881</td><td>Cutaneous photosensitivity-lethal colitis syndrome</td></tr><tr><td>2882</td><td>Sitosterolemia</td></tr><tr><td>2884</td><td>Piebaldism</td></tr><tr><td>2885</td><td>Piebald trait-neurologic defects syndrome</td></tr><tr><td>2886</td><td>TARP syndrome</td></tr><tr><td>2888</td><td>Pierre Robin syndrome-faciodigital anomaly syndrome</td></tr><tr><td>2889</td><td>Pili torti</td></tr><tr><td>289</td><td>Ellis Van Creveld syndrome</td></tr><tr><td>2890</td><td>Pili torti-onychodysplasia syndrome</td></tr><tr><td>2891</td><td>Pili torti-developmental delay-neurological abnormalities syndrome</td></tr><tr><td>289157</td><td>Hypocalcemic vitamin D-dependent rickets</td></tr><tr><td>289176</td><td>Autosomal recessive hypophosphatemic rickets</td></tr><tr><td>2892</td><td>Pilodental dysplasia-refractive errors syndrome</td></tr><tr><td>289266</td><td>Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation</td></tr><tr><td>289290</td><td>Hypermethioninemia encephalopathy due to adenosine kinase deficiency</td></tr><tr><td>289307</td><td>Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency</td></tr><tr><td>289326</td><td>Tropical spastic paraparesis</td></tr><tr><td>289347</td><td>Infective dermatitis associated with HTLV-1</td></tr><tr><td>289356</td><td>Primary non-gestational choriocarcinoma of ovary</td></tr><tr><td>289362</td><td>Non-central nervous system-localized embryonal carcinoma</td></tr><tr><td>289365</td><td>Familial vesicoureteral reflux</td></tr><tr><td>289377</td><td>Early-onset myopathy with fatal cardiomyopathy</td></tr><tr><td>289380</td><td>Myosclerosis</td></tr><tr><td>289385</td><td>Malignancy diagnosed during pregnancy</td></tr><tr><td>289390</td><td>Primary Sjögren syndrome</td></tr><tr><td>289465</td><td>Isolated congenital adermatoglyphia</td></tr><tr><td>289478</td><td>PASH syndrome</td></tr><tr><td>289483</td><td>Intellectual disability-alacrima-achalasia syndrome</td></tr><tr><td>289494</td><td>4H leukodystrophy</td></tr><tr><td>289499</td><td>Congenital cataract microcornea with corneal opacity</td></tr><tr><td>289504</td><td>Combined malonic and methylmalonic acidemia</td></tr><tr><td>289513</td><td>12q15q21.1 microdeletion syndrome</td></tr><tr><td>289522</td><td>Microtriplication 11q24.1</td></tr><tr><td>289539</td><td>BAP1-related tumor predisposition syndrome</td></tr><tr><td>289548</td><td>Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency</td></tr><tr><td>289553</td><td>Dysmorphism-conductive hearing loss-heart defect syndrome</td></tr><tr><td>289560</td><td>Mitochondrial membrane protein-associated neurodegeneration</td></tr><tr><td>289586</td><td>Exfoliative ichthyosis</td></tr><tr><td>289596</td><td>Juvenile nasopharyngeal angiofibroma</td></tr><tr><td>2896</td><td>Pitt-Hopkins syndrome</td></tr><tr><td>289601</td><td>Hereditary arterial and articular multiple calcification syndrome</td></tr><tr><td>289661</td><td>Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly</td></tr><tr><td>289666</td><td>Plasmablastic lymphoma</td></tr><tr><td>289682</td><td>Lymphoepithelial-like carcinoma</td></tr><tr><td>289685</td><td>Myopericytoma</td></tr><tr><td>2897</td><td>Pityriasis rubra pilaris</td></tr><tr><td>2898</td><td>X-linked intellectual disability-plagiocephaly syndrome</td></tr><tr><td>289846</td><td>Glutathione synthetase deficiency with 5-oxoprolinuria</td></tr><tr><td>289849</td><td>Glutathione synthetase deficiency without 5-oxoprolinuria</td></tr><tr><td>289857</td><td>Neonatal glycine encephalopathy</td></tr><tr><td>289860</td><td>Infantile glycine encephalopathy</td></tr><tr><td>289863</td><td>Atypical glycine encephalopathy</td></tr><tr><td>289877</td><td>Transient hyperammonemia of the newborn</td></tr><tr><td>289891</td><td>Hypermethioninemia due to glycine N-methyltransferase deficiency</td></tr><tr><td>2899</td><td>Brachyolmia-amelogenesis imperfecta syndrome</td></tr><tr><td>289916</td><td>Vitamin B12-unresponsive methylmalonic acidemia type mut0</td></tr><tr><td>29</td><td>Mevalonic aciduria</td></tr><tr><td>290</td><td>Congenital rubella syndrome</td></tr><tr><td>2900</td><td>Leri pleonosteosis</td></tr><tr><td>2901</td><td>Neuralgic amyotrophy</td></tr><tr><td>2902</td><td>Idiopathic chronic eosinophilic pneumonia</td></tr><tr><td>2903</td><td>Familial spontaneous pneumothorax</td></tr><tr><td>2905</td><td>POEMS syndrome</td></tr><tr><td>2907</td><td>Hereditary acrokeratotic poikiloderma</td></tr><tr><td>29072</td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td>29073</td><td>Multiple myeloma</td></tr><tr><td>2908</td><td>Kindler epidermolysis bullosa</td></tr><tr><td>2909</td><td>Rothmund-Thomson syndrome</td></tr><tr><td>291</td><td>Congenital varicella syndrome</td></tr><tr><td>2911</td><td>Poland syndrome</td></tr><tr><td>2912</td><td>Poliomyelitis</td></tr><tr><td>2916</td><td>Postaxial polydactyly-dental and vertebral anomalies syndrome</td></tr><tr><td>2917</td><td>Polydactyly-myopia syndrome</td></tr><tr><td>2919</td><td>Orofaciodigital syndrome type 5</td></tr><tr><td>292</td><td>Congenital enterovirus infection</td></tr><tr><td>2920</td><td>Oliver syndrome</td></tr><tr><td>29207</td><td>Reactive arthritis</td></tr><tr><td>2921</td><td>Preaxial polydactyly-colobomata-intellectual disability syndrome</td></tr><tr><td>2924</td><td>Isolated polycystic liver disease</td></tr><tr><td>2926</td><td>Digital extensor muscle aplasia-polyneuropathy</td></tr><tr><td>2928</td><td>Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome</td></tr><tr><td>2929</td><td>Juvenile polyposis syndrome</td></tr><tr><td>293</td><td>Congenital herpes simplex virus infection</td></tr><tr><td>2930</td><td>Cronkhite-Canada syndrome</td></tr><tr><td>293144</td><td>Familial clubfoot due to 5q31 microdeletion</td></tr><tr><td>293150</td><td>Familial clubfoot due to PITX1 point mutation</td></tr><tr><td>293165</td><td>Skin fragility-woolly hair-palmoplantar keratoderma syndrome</td></tr><tr><td>293168</td><td>Infantile-onset ascending hereditary spastic paralysis</td></tr><tr><td>293173</td><td>Acute generalized exanthematous pustulosis</td></tr><tr><td>293181</td><td>Malignant migrating focal seizures of infancy</td></tr><tr><td>293199</td><td>Pleomorphic rhabdomyosarcoma</td></tr><tr><td>2932</td><td>Chronic inflammatory demyelinating polyneuropathy</td></tr><tr><td>293202</td><td>Epithelioid sarcoma</td></tr><tr><td>293208</td><td>Celiac artery compression syndrome</td></tr><tr><td>293284</td><td>Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</td></tr><tr><td>293375</td><td>Grayson-Wilbrandt corneal dystrophy</td></tr><tr><td>293381</td><td>Epithelial recurrent erosion dystrophy</td></tr><tr><td>2934</td><td>Polysyndactyly-cardiac malformation syndrome</td></tr><tr><td>293462</td><td>Pre-Descemet corneal dystrophy</td></tr><tr><td>2935</td><td>Crossed polysyndactyly</td></tr><tr><td>293603</td><td>Congenital hereditary endothelial dystrophy type II</td></tr><tr><td>293621</td><td>X-linked endothelial corneal dystrophy</td></tr><tr><td>293633</td><td>PYCR1-related De Barsy syndrome</td></tr><tr><td>293707</td><td>Blepharophimosis-intellectual disability syndrome, MKB type</td></tr><tr><td>293725</td><td>Blepharophimosis-intellectual disability syndrome, Verloes type</td></tr><tr><td>293807</td><td>Ketamine-induced biliary dilatation</td></tr><tr><td>293812</td><td>Fixed drug eruption</td></tr><tr><td>293822</td><td>MITF-related melanoma and renal cell carcinoma predisposition syndrome</td></tr><tr><td>293825</td><td>Congenital dyserythropoietic anemia type IV</td></tr><tr><td>293843</td><td>3MC syndrome</td></tr><tr><td>293864</td><td>Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome</td></tr><tr><td>293888</td><td>Familial isolated arrhythmogenic ventricular dysplasia, left dominant form</td></tr><tr><td>293899</td><td>Familial isolated arrhythmogenic ventricular dysplasia, biventricular form</td></tr><tr><td>293910</td><td>Familial isolated arrhythmogenic ventricular dysplasia, right dominant form</td></tr><tr><td>293925</td><td>Lethal occipital encephalocele-skeletal dysplasia syndrome</td></tr><tr><td>293936</td><td>EDICT syndrome</td></tr><tr><td>293939</td><td>Distal Xq28 microduplication syndrome</td></tr><tr><td>293948</td><td>1p21.3 microdeletion syndrome</td></tr><tr><td>293955</td><td>Childhood encephalopathy due to thiamine pyrophosphokinase deficiency</td></tr><tr><td>293958</td><td>Hypertelorism-preauricular sinus-punctual pits-deafness syndrome</td></tr><tr><td>293964</td><td>Hypoinsulinemic hypoglycemia and body hemihypertrophy</td></tr><tr><td>293967</td><td>Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome</td></tr><tr><td>293978</td><td>Deficiency in anterior pituitary function-variable immunodeficiency syndrome</td></tr><tr><td>293987</td><td>Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome</td></tr><tr><td>294</td><td>Fetal cytomegalovirus syndrome</td></tr><tr><td>2940</td><td>Porencephaly</td></tr><tr><td>294016</td><td>Microcephaly-capillary malformation syndrome</td></tr><tr><td>294023</td><td>Neonatal inflammatory skin and bowel disease</td></tr><tr><td>294026</td><td>Syndactyly-nystagmus syndrome due to 2q31.1 microduplication</td></tr><tr><td>2941</td><td>Porencephaly-cerebellar hypoplasia-internal malformations syndrome</td></tr><tr><td>2942</td><td>Postpoliomyelitis syndrome</td></tr><tr><td>294415</td><td>Renal-hepatic-pancreatic dysplasia</td></tr><tr><td>294422</td><td>Chronic intestinal failure</td></tr><tr><td>2946</td><td>Brachydactyly-long thumb syndrome</td></tr><tr><td>2947</td><td>Triphalangeal thumbs-brachyectrodactyly syndrome</td></tr><tr><td>294967</td><td>Amelia of upper limb</td></tr><tr><td>294969</td><td>Amelia of lower limb</td></tr><tr><td>294971</td><td>Tetra-amelia</td></tr><tr><td>294973</td><td>Humeral agenesis/hypoplasia</td></tr><tr><td>294975</td><td>Congenital absence of upper arm and forearm with hand present</td></tr><tr><td>294977</td><td>Congenital absence of thigh and lower leg with foot present</td></tr><tr><td>294979</td><td>Congenital absence of both forearm and hand</td></tr><tr><td>294981</td><td>Congenital absence of both lower leg and foot</td></tr><tr><td>294983</td><td>Acheiria</td></tr><tr><td>294986</td><td>Apodia</td></tr><tr><td>294988</td><td>Congenital hypoplasia of thumb</td></tr><tr><td>295</td><td>Fetal parvovirus syndrome</td></tr><tr><td>295000</td><td>Constriction rings syndrome</td></tr><tr><td>295002</td><td>Hyperphalangy</td></tr><tr><td>295004</td><td>Central polydactyly</td></tr><tr><td>295012</td><td>Syndactyly type 6</td></tr><tr><td>295014</td><td>Familial isolated clinodactyly of fingers</td></tr><tr><td>295016</td><td>Camptodactyly of fingers</td></tr><tr><td>295018</td><td>Congenital pseudoarthrosis of the tibia</td></tr><tr><td>295020</td><td>Congenital pseudoarthrosis of the femur</td></tr><tr><td>295022</td><td>Congenital pseudoarthrosis of the fibula</td></tr><tr><td>295024</td><td>Congenital pseudoarthrosis of the radius</td></tr><tr><td>295026</td><td>Congenital pseudoarthrosis of the ulna</td></tr><tr><td>295028</td><td>Tibio-fibular synostosis</td></tr><tr><td>295030</td><td>True congenital shoulder dislocation</td></tr><tr><td>295032</td><td>Isolated congenital radial head dislocation</td></tr><tr><td>295034</td><td>Congenital knee dislocation</td></tr><tr><td>295036</td><td>Congenital patella dislocation</td></tr><tr><td>295044</td><td>Macrodactyly of fingers</td></tr><tr><td>295047</td><td>Macrodactyly of toes</td></tr><tr><td>295049</td><td>Upper limb hypertrophy</td></tr><tr><td>295051</td><td>Lower limb hypertrophy</td></tr><tr><td>2951</td><td>Absent thumb-short stature-immunodeficiency syndrome</td></tr><tr><td>295187</td><td>Zygodactyly type 1</td></tr><tr><td>295189</td><td>Zygodactyly type 2</td></tr><tr><td>295191</td><td>Zygodactyly type 3</td></tr><tr><td>295193</td><td>Zygodactyly type 4</td></tr><tr><td>295195</td><td>Synpolydactyly type 1</td></tr><tr><td>295197</td><td>Synpolydactyly type 2</td></tr><tr><td>295199</td><td>Synpolydactyly type 3</td></tr><tr><td>2952</td><td>Adducted thumbs-arthrogryposis syndrome, Christian type</td></tr><tr><td>295201</td><td>Congenital vertical talus, unilateral</td></tr><tr><td>295203</td><td>Congenital vertical talus, bilateral</td></tr><tr><td>295213</td><td>Humero-ulnar synostosis, unilateral</td></tr><tr><td>295215</td><td>Humero-ulnar synostosis, bilateral</td></tr><tr><td>295217</td><td>Radio-ulnar synostosis, unilateral</td></tr><tr><td>295219</td><td>Radio-ulnar synostosis, bilateral</td></tr><tr><td>295225</td><td>Congenital elbow dislocation, unilateral</td></tr><tr><td>295227</td><td>Congenital elbow dislocation, bilateral</td></tr><tr><td>295229</td><td>Congenital genu recurvatum</td></tr><tr><td>295232</td><td>Congenital genu flexum</td></tr><tr><td>295239</td><td>Macrodactyly of fingers, unilateral</td></tr><tr><td>295241</td><td>Macrodactyly of fingers, bilateral</td></tr><tr><td>295243</td><td>Macrodactyly of toes, unilateral</td></tr><tr><td>295245</td><td>Macrodactyly of toes, bilateral</td></tr><tr><td>2953</td><td>Musculocontractural Ehlers-Danlos syndrome</td></tr><tr><td>2956</td><td>Acrodysplasia scoliosis</td></tr><tr><td>2957</td><td>Guttmacher syndrome</td></tr><tr><td>2958</td><td>X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome</td></tr><tr><td>2959</td><td>Progeria-short stature-pigmented nevi syndrome</td></tr><tr><td>296</td><td>Ollier disease</td></tr><tr><td>2962</td><td>De Barsy syndrome</td></tr><tr><td>2963</td><td>Progeroid syndrome, Petty type</td></tr><tr><td>2964</td><td>Autosomal dominant prognathism</td></tr><tr><td>2965</td><td>Prolactinoma</td></tr><tr><td>2966</td><td>Properdin deficiency</td></tr><tr><td>2967</td><td>Transcobalamin I deficiency</td></tr><tr><td>2968</td><td>Leukocyte adhesion deficiency</td></tr><tr><td>2969</td><td>Proteus-like syndrome</td></tr><tr><td>297</td><td>Tick-borne encephalitis</td></tr><tr><td>2970</td><td>Prune belly syndrome</td></tr><tr><td>2971</td><td>Peroxisomal acyl-CoA oxidase deficiency</td></tr><tr><td>2972</td><td>Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome</td></tr><tr><td>2973</td><td>46,XX difference of sex development-anorectal anomalies syndrome</td></tr><tr><td>2975</td><td>46,XX difference of sex development-skeletal anomalies syndrome</td></tr><tr><td>2976</td><td>Pseudoleprechaunism syndrome, Patterson type</td></tr><tr><td>2978</td><td>Chronic intestinal pseudoobstruction</td></tr><tr><td>298</td><td>Mitochondrial neurogastrointestinal encephalomyopathy</td></tr><tr><td>2980</td><td>Acrootoocular syndrome</td></tr><tr><td>29822</td><td>Spontaneous periodic hypothermia</td></tr><tr><td>2983</td><td>Difference of sex development-intellectual disability syndrome</td></tr><tr><td>2985</td><td>Pseudoprogeria syndrome</td></tr><tr><td>2987</td><td>Antecubital pterygium syndrome</td></tr><tr><td>2988</td><td>Pterygium colli-intellectual disability-digital anomalies syndrome</td></tr><tr><td>2989</td><td>Familial pterygium of the conjunctiva</td></tr><tr><td>2990</td><td>Autosomal recessive multiple pterygium syndrome</td></tr><tr><td>2994</td><td>Short stature-craniofacial anomalies-genital hypoplasia syndrome</td></tr><tr><td>2995</td><td>Baraitser-Winter cerebrofrontofacial syndrome</td></tr><tr><td>2997</td><td>Ptosis-vocal cord paralysis syndrome</td></tr><tr><td>2999</td><td>Ptosis-strabismus-ectopic pupils syndrome</td></tr><tr><td>30</td><td>Hereditary orotic aciduria</td></tr><tr><td>300</td><td>Bifunctional enzyme deficiency</td></tr><tr><td>3000</td><td>Familial peripheral male-limited precocious puberty</td></tr><tr><td>300179</td><td>Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency</td></tr><tr><td>3002</td><td>Immune thrombocytopenia</td></tr><tr><td>300284</td><td>Connective tissue disorder due to lysyl hydroxylase-3 deficiency</td></tr><tr><td>300293</td><td>Transient infantile hypertriglyceridemia and hepatosteatosis</td></tr><tr><td>300298</td><td>Severe congenital hypochromic anemia with ringed sideroblasts</td></tr><tr><td>3003</td><td>Pyknoachondrogenesis</td></tr><tr><td>300305</td><td>11p15.4 microduplication syndrome</td></tr><tr><td>300313</td><td>Congenital cataract-hearing loss-severe developmental delay syndrome</td></tr><tr><td>300319</td><td>Charcot-Marie-Tooth disease type 2P</td></tr><tr><td>300324</td><td>Persistent polyclonal B-cell lymphocytosis</td></tr><tr><td>300333</td><td>Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome</td></tr><tr><td>300345</td><td>Autosomal systemic lupus erythematosus</td></tr><tr><td>300359</td><td>PLCG2-associated antibody deficiency and immune dysregulation</td></tr><tr><td>300373</td><td>X-linked acrogigantism</td></tr><tr><td>300382</td><td>Progeroid and marfanoid aspect-lipodystrophy syndrome</td></tr><tr><td>300385</td><td>Pituitary carcinoma</td></tr><tr><td>3004</td><td>Mirror polydactyly-vertebral segmentation-limbs defects syndrome</td></tr><tr><td>300493</td><td>Sagliker syndrome</td></tr><tr><td>300496</td><td>Multiple congenital anomalies-hypotonia-seizures syndrome type 2</td></tr><tr><td>3005</td><td>Pyle disease</td></tr><tr><td>300501</td><td>Painful orbital and systemic neurofibromas-marfanoid habitus syndrome</td></tr><tr><td>300504</td><td>Onychocytic matricoma</td></tr><tr><td>300512</td><td>Onychomatricoma</td></tr><tr><td>300525</td><td>Pseudohypoaldosteronism type 2D</td></tr><tr><td>300530</td><td>Pseudohypoaldosteronism type 2E</td></tr><tr><td>300536</td><td>DDOST-CDG</td></tr><tr><td>300547</td><td>Autosomal recessive infantile hypercalcemia</td></tr><tr><td>300552</td><td>Follicular cholangitis and pancreatitis</td></tr><tr><td>300557</td><td>Carcinoma of the ampulla of Vater</td></tr><tr><td>300564</td><td>Combined pulmonary fibrosis-emphysema syndrome</td></tr><tr><td>300570</td><td>Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation</td></tr><tr><td>300573</td><td>Polymicrogyria due to TUBB2B mutation</td></tr><tr><td>300576</td><td>Oligodontia-cancer predisposition syndrome</td></tr><tr><td>3006</td><td>Pyridoxine-dependent epilepsy</td></tr><tr><td>300605</td><td>Juvenile amyotrophic lateral sclerosis</td></tr><tr><td>300751</td><td>Familial dilated cardiomyopathy with conduction defect due to LMNA mutation</td></tr><tr><td>3008</td><td>Pyruvate carboxylase deficiency</td></tr><tr><td>300849</td><td>Diffuse large B-cell lymphoma of the central nervous system</td></tr><tr><td>300857</td><td>T-cell/histiocyte rich large B cell lymphoma</td></tr><tr><td>300865</td><td>Primary cutaneous anaplastic large cell lymphoma</td></tr><tr><td>300869</td><td>Splenic diffuse red pulp small B-cell lymphoma</td></tr><tr><td>300878</td><td>Hairy cell leukemia variant</td></tr><tr><td>300888</td><td>Diffuse large B-cell lymphoma with chronic inflammation</td></tr><tr><td>300895</td><td>ALK-positive anaplastic large cell lymphoma</td></tr><tr><td>300903</td><td>ALK-negative anaplastic large cell lymphoma</td></tr><tr><td>3010</td><td>Qazi-Markouizos syndrome</td></tr><tr><td>3011</td><td>Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome</td></tr><tr><td>3015</td><td>Radio-renal syndrome</td></tr><tr><td>3016</td><td>Absent radius-anogenital anomalies syndrome</td></tr><tr><td>3018</td><td>Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome</td></tr><tr><td>3019</td><td>Ramon syndrome</td></tr><tr><td>302</td><td>Epidermodysplasia verruciformis</td></tr><tr><td>3020</td><td>Ramsay Hunt syndrome</td></tr><tr><td>3021</td><td>RAPADILINO syndrome</td></tr><tr><td>3023</td><td>External auditory canal atresia-vertical talus-hypertelorism syndrome</td></tr><tr><td>3026</td><td>Radial ray hypoplasia-choanal atresia syndrome</td></tr><tr><td>3027</td><td>Caudal regression syndrome</td></tr><tr><td>3032</td><td>NPHP3-related Meckel-like syndrome</td></tr><tr><td>3033</td><td>Renal tubular dysgenesis</td></tr><tr><td>3034</td><td>Delayed membranous cranial ossification</td></tr><tr><td>3035</td><td>Growth delay-hydrocephaly-lung hypoplasia syndrome</td></tr><tr><td>3038</td><td>Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome</td></tr><tr><td>30391</td><td>Isolated biliary atresia</td></tr><tr><td>3041</td><td>Intellectual disability-balding-patella luxation-acromicria syndrome</td></tr><tr><td>3042</td><td>Intellectual disability-cataracts-calcified pinnae-myopathy syndrome</td></tr><tr><td>3044</td><td>Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome</td></tr><tr><td>3047</td><td>Blepharophimosis-intellectual disability syndrome, SBBYS type</td></tr><tr><td>3051</td><td>Nicolaides-Baraitser syndrome</td></tr><tr><td>3052</td><td>X-linked intellectual disability-seizures-psoriasis syndrome</td></tr><tr><td>3055</td><td>X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome</td></tr><tr><td>3057</td><td>Monoamine oxidase A deficiency</td></tr><tr><td>306</td><td>Benign familial infantile epilepsy</td></tr><tr><td>3063</td><td>X-linked intellectual disability, Snyder type</td></tr><tr><td>306431</td><td>Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies</td></tr><tr><td>306504</td><td>Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome</td></tr><tr><td>306511</td><td>Autosomal recessive spastic paraplegia type 48</td></tr><tr><td>306516</td><td>Primary hypomagnesemia with hypercalciuria and nephrocalcinosis</td></tr><tr><td>306527</td><td>Isolated hereditary congenital facial paralysis</td></tr><tr><td>306530</td><td>Congenital hereditary facial paralysis-variable hearing loss syndrome</td></tr><tr><td>306542</td><td>Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome</td></tr><tr><td>306547</td><td>Porencephaly-microcephaly-bilateral congenital cataract syndrome</td></tr><tr><td>306550</td><td>FADD-related immunodeficiency</td></tr><tr><td>306553</td><td>Myospherulosis</td></tr><tr><td>306558</td><td>Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome</td></tr><tr><td>306577</td><td>Sodium channelopathy-related small fiber neuropathy</td></tr><tr><td>306617</td><td>X-linked complicated spastic paraplegia type 1</td></tr><tr><td>306644</td><td>Complication after organ transplantation</td></tr><tr><td>306658</td><td>Familial normophosphatemic tumoral calcinosis</td></tr><tr><td>306661</td><td>Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome</td></tr><tr><td>306669</td><td>Hemiparkinsonism-hemiatrophy syndrome</td></tr><tr><td>306674</td><td>Kufor-Rakeb syndrome</td></tr><tr><td>306682</td><td>Manganese poisoning</td></tr><tr><td>306686</td><td>Delayed encephalopathy due to carbon monoxide poisoning</td></tr><tr><td>306692</td><td>Cyanide-induced parkinsonism-dystonia</td></tr><tr><td>306731</td><td>Sydenham chorea</td></tr><tr><td>306734</td><td>Primary dystonia, DYT21 type</td></tr><tr><td>306741</td><td>Hemidystonia-hemiatrophy syndrome</td></tr><tr><td>306776</td><td>Sporadic hyperekplexia</td></tr><tr><td>3068</td><td>Intellectual disability-myopathy-short stature-endocrine defect syndrome</td></tr><tr><td>307</td><td>Juvenile myoclonic epilepsy</td></tr><tr><td>3071</td><td>Costello syndrome</td></tr><tr><td>3074</td><td>Intellectual disability-short stature-hypertelorism syndrome</td></tr><tr><td>3077</td><td>X-linked intellectual disability-psychosis-macroorchidism syndrome</td></tr><tr><td>307766</td><td>Curly hair-acral keratoderma-caries syndrome</td></tr><tr><td>3078</td><td>Severe X-linked intellectual disability, Gustavson type</td></tr><tr><td>3079</td><td>Intellectual disability, Buenos-Aires type</td></tr><tr><td>307936</td><td>Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome</td></tr><tr><td>308</td><td>Progressive myoclonic epilepsy type 1</td></tr><tr><td>3080</td><td>Intellectual disability, Wolff type</td></tr><tr><td>308013</td><td>Focal acral hyperkeratosis</td></tr><tr><td>3082</td><td>Intellectual disability-polydactyly-uncombable hair syndrome</td></tr><tr><td>308380</td><td>Methylcobalamin deficiency type cblDv1</td></tr><tr><td>308386</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A</td></tr><tr><td>308393</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B</td></tr><tr><td>308400</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C</td></tr><tr><td>308410</td><td>Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency</td></tr><tr><td>308425</td><td>Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</td></tr><tr><td>308442</td><td>Vitamin B12-responsive methylmalonic acidemia, type cblDv2</td></tr><tr><td>308473</td><td>Erythrocyte galactose epimerase deficiency</td></tr><tr><td>308487</td><td>Generalized galactose epimerase deficiency</td></tr><tr><td>3085</td><td>Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome</td></tr><tr><td>308552</td><td>Glycogen storage disease due to acid maltase deficiency, infantile onset</td></tr><tr><td>3086</td><td>Autosomal dominant vitreoretinochoroidopathy</td></tr><tr><td>308621</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</td></tr><tr><td>308638</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</td></tr><tr><td>308655</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</td></tr><tr><td>308670</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</td></tr><tr><td>308684</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</td></tr><tr><td>308698</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</td></tr><tr><td>308712</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form</td></tr><tr><td>3088</td><td>Revesz syndrome</td></tr><tr><td>309015</td><td>Familial lipoprotein lipase deficiency</td></tr><tr><td>309020</td><td>Familial apolipoprotein C-II deficiency</td></tr><tr><td>309025</td><td>Mevalonate kinase deficiency</td></tr><tr><td>309031</td><td>Pancreatic triacylglycerol lipase deficiency</td></tr><tr><td>309108</td><td>Pancreatic colipase deficiency</td></tr><tr><td>309111</td><td>Combined pancreatic lipase-colipase deficiency</td></tr><tr><td>309147</td><td>Hyper-beta-alaninemia</td></tr><tr><td>309155</td><td>Sandhoff disease, infantile form</td></tr><tr><td>309162</td><td>Sandhoff disease, juvenile form</td></tr><tr><td>309169</td><td>Sandhoff disease, adult form</td></tr><tr><td>309178</td><td>Tay-Sachs disease, B variant, infantile form</td></tr><tr><td>309185</td><td>Tay-Sachs disease, B variant, juvenile form</td></tr><tr><td>309192</td><td>Tay-Sachs disease, B variant, adult form</td></tr><tr><td>3092</td><td>Fixed subaortic stenosis</td></tr><tr><td>309239</td><td>Tay-Sachs disease, B1 variant</td></tr><tr><td>30924</td><td>Primary hypomagnesemia with secondary hypocalcemia</td></tr><tr><td>309246</td><td>GM2 gangliosidosis, AB variant</td></tr><tr><td>30925</td><td>Hereditary central diabetes insipidus</td></tr><tr><td>309252</td><td>Atypical Gaucher disease due to saposin C deficiency</td></tr><tr><td>309256</td><td>Metachromatic leukodystrophy, late infantile form</td></tr><tr><td>309263</td><td>Metachromatic leukodystrophy, juvenile form</td></tr><tr><td>309271</td><td>Metachromatic leukodystrophy, adult form</td></tr><tr><td>309282</td><td>Alpha-mannosidosis, infantile form</td></tr><tr><td>309288</td><td>Alpha-mannosidosis, adult form</td></tr><tr><td>309297</td><td>Mucopolysaccharidosis type 4A</td></tr><tr><td>3093</td><td>Congenital aortic valve stenosis</td></tr><tr><td>309310</td><td>Mucopolysaccharidosis type 4B</td></tr><tr><td>309324</td><td>Free sialic acid storage disease, infantile form</td></tr><tr><td>309331</td><td>Intermediate severe Salla disease</td></tr><tr><td>309334</td><td>Salla disease</td></tr><tr><td>3095</td><td>Atypical Rett syndrome</td></tr><tr><td>3096</td><td>Reye syndrome</td></tr><tr><td>3097</td><td>Meacham syndrome</td></tr><tr><td>309789</td><td>Rhizomelic chondrodysplasia punctata type 1</td></tr><tr><td>309796</td><td>Rhizomelic chondrodysplasia punctata type 2</td></tr><tr><td>3098</td><td>Rhizomelic syndrome, Urbach type</td></tr><tr><td>309803</td><td>Rhizomelic chondrodysplasia punctata type 3</td></tr><tr><td>309854</td><td>Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome</td></tr><tr><td>3099</td><td>Rheumatic fever</td></tr><tr><td>31</td><td>Oxoglutaric aciduria</td></tr><tr><td>3101</td><td>Richieri Costa-da Silva syndrome</td></tr><tr><td>3102</td><td>Richieri Costa-Pereira syndrome</td></tr><tr><td>3103</td><td>Roberts syndrome</td></tr><tr><td>3104</td><td>Robin sequence-oligodactyly syndrome</td></tr><tr><td>31043</td><td>Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement</td></tr><tr><td>3107</td><td>Autosomal dominant Robinow syndrome</td></tr><tr><td>3109</td><td>Mayer-Rokitansky-Küster-Hauser syndrome</td></tr><tr><td>3110</td><td>Rombo syndrome</td></tr><tr><td>3111</td><td>Rotor syndrome</td></tr><tr><td>31112</td><td>Dermatofibrosarcoma protuberans</td></tr><tr><td>3115</td><td>Roussy-Lévy syndrome</td></tr><tr><td>31150</td><td>Tangier disease</td></tr><tr><td>312</td><td>Autosomal dominant epidermolytic ichthyosis</td></tr><tr><td>31202</td><td>Melioidosis</td></tr><tr><td>31204</td><td>Nocardiosis</td></tr><tr><td>31205</td><td>Rat-bite fever</td></tr><tr><td>3121</td><td>Ruvalcaba syndrome</td></tr><tr><td>3124</td><td>Saccharopinuria</td></tr><tr><td>3129</td><td>Sarcosinemia</td></tr><tr><td>313</td><td>Lamellar ichthyosis</td></tr><tr><td>3130</td><td>Satoyoshi syndrome</td></tr><tr><td>3132</td><td>Say-Barber-Miller syndrome</td></tr><tr><td>3134</td><td>SCARF syndrome</td></tr><tr><td>3137</td><td>Alpha-N-acetylgalactosaminidase deficiency</td></tr><tr><td>313772</td><td>Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome</td></tr><tr><td>313781</td><td>20p13 microdeletion syndrome</td></tr><tr><td>313795</td><td>Jawad syndrome</td></tr><tr><td>3138</td><td>Ulnar-mammary syndrome</td></tr><tr><td>313800</td><td>Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome</td></tr><tr><td>313808</td><td>Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia</td></tr><tr><td>313838</td><td>Coats plus syndrome</td></tr><tr><td>313846</td><td>Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome</td></tr><tr><td>313850</td><td>Infantile cerebellar-retinal degeneration</td></tr><tr><td>313855</td><td>FGFR2-related bent bone dysplasia</td></tr><tr><td>313884</td><td>12p12.1 microdeletion syndrome</td></tr><tr><td>313892</td><td>Developmental and speech delay due to SOX5 deficiency</td></tr><tr><td>313906</td><td>Congenital pancreatic cyst</td></tr><tr><td>313920</td><td>Epstein-Barr virus-associated gastric carcinoma</td></tr><tr><td>313936</td><td>PENS syndrome</td></tr><tr><td>313947</td><td>2q23.1 microduplication syndrome</td></tr><tr><td>314</td><td>Erythroderma desquamativum</td></tr><tr><td>314002</td><td>Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome</td></tr><tr><td>314017</td><td>Idiopathic linear interstitial keratitis</td></tr><tr><td>314022</td><td>Gastric adenocarcinoma and proximal polyposis of the stomach</td></tr><tr><td>314029</td><td>High bone mass osteogenesis imperfecta</td></tr><tr><td>314034</td><td>7p22.1 microduplication syndrome</td></tr><tr><td>314041</td><td>Marfanoid habitus-inguinal hernia-advanced bone age syndrome</td></tr><tr><td>314051</td><td>Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</td></tr><tr><td>3143</td><td>Autoimmune polyendocrinopathy type 2</td></tr><tr><td>314373</td><td>Chronic infantile diarrhea due to guanylate cyclase 2C overactivity</td></tr><tr><td>314376</td><td>Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency</td></tr><tr><td>314381</td><td>Hereditary sensory and autonomic neuropathy type 6</td></tr><tr><td>314389</td><td>Xq12-q13.3 duplication syndrome</td></tr><tr><td>314394</td><td>Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome</td></tr><tr><td>314399</td><td>Autosomal dominant aplasia and myelodysplasia</td></tr><tr><td>3144</td><td>Schneckenbecken dysplasia</td></tr><tr><td>314404</td><td>Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome</td></tr><tr><td>314419</td><td>Ameloblastoma</td></tr><tr><td>314422</td><td>Ameloblastic carcinoma</td></tr><tr><td>314432</td><td>Spigelian hernia-cryptorchidism syndrome</td></tr><tr><td>314451</td><td>Meigs syndrome</td></tr><tr><td>314459</td><td>Pseudo-Meigs syndrome</td></tr><tr><td>314466</td><td>Atypical Meigs syndrome</td></tr><tr><td>314473</td><td>Ovarian fibroma</td></tr><tr><td>314478</td><td>Ovarian fibrothecoma</td></tr><tr><td>314485</td><td>Young adult-onset distal hereditary motor neuropathy</td></tr><tr><td>3145</td><td>Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome</td></tr><tr><td>314555</td><td>Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome</td></tr><tr><td>314566</td><td>Primary progressive apraxia of speech</td></tr><tr><td>314572</td><td>Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome</td></tr><tr><td>314575</td><td>Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome</td></tr><tr><td>314585</td><td>15q overgrowth syndrome</td></tr><tr><td>314588</td><td>Distal triplication 15q</td></tr><tr><td>314597</td><td>Chudley-McCullough syndrome</td></tr><tr><td>314603</td><td>Autosomal recessive spastic ataxia with leukoencephalopathy</td></tr><tr><td>314613</td><td>Growing teratoma syndrome</td></tr><tr><td>314621</td><td>Duplication of the pituitary gland</td></tr><tr><td>314629</td><td>CLN11 disease</td></tr><tr><td>314632</td><td>ATP13A2-related juvenile neuronal ceroid lipofuscinosis</td></tr><tr><td>314637</td><td>Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency</td></tr><tr><td>314647</td><td>Non-progressive cerebellar ataxia with intellectual disability</td></tr><tr><td>314652</td><td>Variant ABeta2M amyloidosis</td></tr><tr><td>314655</td><td>Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion</td></tr><tr><td>314662</td><td>Segmental progressive overgrowth syndrome with fibroadipose hyperplasia</td></tr><tr><td>314667</td><td>TMEM165-CDG</td></tr><tr><td>314679</td><td>Cerebrofacioarticular syndrome</td></tr><tr><td>314684</td><td>Primary bone lymphoma</td></tr><tr><td>314689</td><td>Combined immunodeficiency due to STK4 deficiency</td></tr><tr><td>314697</td><td>Acquired porencephaly</td></tr><tr><td>314701</td><td>Primary systemic amyloidosis</td></tr><tr><td>314709</td><td>Primary localized amyloidosis</td></tr><tr><td>314718</td><td>Lethal arteriopathy syndrome due to fibulin-4 deficiency</td></tr><tr><td>314721</td><td>Atypical dentin dysplasia due to SMOC2 deficiency</td></tr><tr><td>314769</td><td>Somatomammotropinoma</td></tr><tr><td>314777</td><td>Familial isolated pituitary adenoma</td></tr><tr><td>314786</td><td>Silent pituitary adenoma</td></tr><tr><td>314790</td><td>Null pituitary adenoma</td></tr><tr><td>314795</td><td>SHOX-related short stature</td></tr><tr><td>3148</td><td>Malignant peripheral nerve sheath tumor</td></tr><tr><td>314802</td><td>Short stature due to partial GHR deficiency</td></tr><tr><td>314811</td><td>Short stature due to GHSR deficiency</td></tr><tr><td>314889</td><td>Autosomal dominant proximal renal tubular acidosis</td></tr><tr><td>314911</td><td>Severe Canavan disease</td></tr><tr><td>314918</td><td>Mild Canavan disease</td></tr><tr><td>314950</td><td>Primary hypereosinophilic syndrome</td></tr><tr><td>314962</td><td>Secondary hypereosinophilic syndrome</td></tr><tr><td>314970</td><td>Lymphocytic hypereosinophilic syndrome</td></tr><tr><td>314978</td><td>X-linked non progressive cerebellar ataxia</td></tr><tr><td>314993</td><td>Cataract-congenital heart disease-neural tube defect syndrome</td></tr><tr><td>315</td><td>Erythrokeratoderma ''en cocardes''</td></tr><tr><td>3151</td><td>Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome</td></tr><tr><td>3152</td><td>Sclerosteosis</td></tr><tr><td>315306</td><td>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form</td></tr><tr><td>315311</td><td>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form</td></tr><tr><td>3156</td><td>Senior-Loken syndrome</td></tr><tr><td>3157</td><td>Septo-optic dysplasia spectrum</td></tr><tr><td>316</td><td>Progressive symmetric erythrokeratodermia</td></tr><tr><td>3161</td><td>Congenital pulmonary sequestration</td></tr><tr><td>3162</td><td>Sézary syndrome</td></tr><tr><td>3163</td><td>SHORT syndrome</td></tr><tr><td>3164</td><td>Omphalocele syndrome, Shprintzen-Goldberg type</td></tr><tr><td>3165</td><td>Eosinophilic fasciitis</td></tr><tr><td>3166</td><td>Sialuria</td></tr><tr><td>3167</td><td>Siegler-Brewer-Carey syndrome</td></tr><tr><td>3168</td><td>Sillence syndrome</td></tr><tr><td>3169</td><td>Sirenomelia</td></tr><tr><td>317</td><td>Erythrokeratodermia variabilis</td></tr><tr><td>31709</td><td>Infantile convulsions and choreoathetosis</td></tr><tr><td>3172</td><td>Eyebrow duplication-syndactyly syndrome</td></tr><tr><td>3173</td><td>Infantile spasms-broad thumbs syndrome</td></tr><tr><td>317425</td><td>Severe combined immunodeficiency due to DNA-PKcs deficiency</td></tr><tr><td>317428</td><td>Combined immunodeficiency due to ORAI1 deficiency</td></tr><tr><td>317430</td><td>Combined immunodeficiency due to STIM1 deficiency</td></tr><tr><td>317473</td><td>Pancytopenia due to IKZF1 mutations</td></tr><tr><td>317476</td><td>X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</td></tr><tr><td>3175</td><td>X-linked spasticity-intellectual disability-epilepsy syndrome</td></tr><tr><td>3176</td><td>Spina bifida-hypospadias syndrome</td></tr><tr><td>3177</td><td>Spinocerebellar degeneration-corneal dystrophy syndrome</td></tr><tr><td>318</td><td>Acute erythroid leukemia</td></tr><tr><td>3180</td><td>Spondylocamptodactyly syndrome</td></tr><tr><td>3181</td><td>Sprengel deformity</td></tr><tr><td>31824</td><td>Colchicine poisoning</td></tr><tr><td>31825</td><td>Methanol poisoning</td></tr><tr><td>31826</td><td>Ethylene glycol poisoning</td></tr><tr><td>31827</td><td>Paraquat poisoning</td></tr><tr><td>31828</td><td>Digitalis poisoning</td></tr><tr><td>31837</td><td>Pulmonary venoocclusive disease</td></tr><tr><td>3184</td><td>Steatocystoma multiplex-natal teeth syndrome</td></tr><tr><td>3186</td><td>Holoprosencephaly-radial heart renal anomalies syndrome</td></tr><tr><td>3189</td><td>Congenital pulmonary valvar stenosis</td></tr><tr><td>319</td><td>Skeletal Ewing sarcoma</td></tr><tr><td>3190</td><td>Subpulmonary stenosis</td></tr><tr><td>3191</td><td>Subaortic stenosis-short stature syndrome</td></tr><tr><td>319160</td><td>Congenital myopathy with internal nuclei and atypical cores</td></tr><tr><td>319171</td><td>Distal 17p13.1 microdeletion syndrome</td></tr><tr><td>319182</td><td>Wiedemann-Steiner syndrome</td></tr><tr><td>319189</td><td>Familial cortical myoclonus</td></tr><tr><td>319192</td><td>Diencephalic-mesencephalic junction dysplasia</td></tr><tr><td>319195</td><td>Chondroectodermal dysplasia with night blindness</td></tr><tr><td>319199</td><td>Autosomal recessive spastic paraplegia type 53</td></tr><tr><td>3192</td><td>Supravalvular pulmonary stenosis</td></tr><tr><td>319205</td><td>Bilateral massive adrenal hemorrhage</td></tr><tr><td>319213</td><td>Lujo hemorrhagic fever</td></tr><tr><td>319218</td><td>Ebola hemorrhagic fever</td></tr><tr><td>319223</td><td>Argentine hemorrhagic fever</td></tr><tr><td>319229</td><td>Bolivian hemorrhagic fever</td></tr><tr><td>319234</td><td>Venezuelan hemorrhagic fever</td></tr><tr><td>319239</td><td>Brazilian hemorrhagic fever</td></tr><tr><td>319244</td><td>Chapare hemorrhagic fever</td></tr><tr><td>319247</td><td>Hantavirus pulmonary syndrome</td></tr><tr><td>319251</td><td>Rift valley fever</td></tr><tr><td>319254</td><td>Kyasanur forest disease</td></tr><tr><td>319266</td><td>Omsk hemorrhagic fever</td></tr><tr><td>319276</td><td>Clear cell renal carcinoma</td></tr><tr><td>319287</td><td>Multilocular cystic renal neoplasm of low malignant potential</td></tr><tr><td>319298</td><td>Papillary renal cell carcinoma</td></tr><tr><td>3193</td><td>Supravalvular aortic stenosis</td></tr><tr><td>319303</td><td>Chromophobe renal cell carcinoma</td></tr><tr><td>319308</td><td>MiT family translocation renal cell carcinoma</td></tr><tr><td>319319</td><td>Renal medullary carcinoma</td></tr><tr><td>319322</td><td>Mucinous tubular and spindle cell renal carcinoma</td></tr><tr><td>319325</td><td>Tubulocystic renal cell carcinoma</td></tr><tr><td>319332</td><td>Autosomal recessive myogenic arthrogryposis multiplex congenita</td></tr><tr><td>319340</td><td>Carney complex-trismus-pseudocamptodactyly syndrome</td></tr><tr><td>3194</td><td>Corneodermatoosseous syndrome</td></tr><tr><td>319462</td><td>Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations</td></tr><tr><td>319465</td><td>Inherited acute myeloid leukemia</td></tr><tr><td>319480</td><td>Acute myeloid leukemia with CEBPA somatic mutations</td></tr><tr><td>319487</td><td>Familial papillary or follicular thyroid carcinoma</td></tr><tr><td>319504</td><td>Combined oxidative phosphorylation defect type 8</td></tr><tr><td>319509</td><td>Combined oxidative phosphorylation defect type 9</td></tr><tr><td>319514</td><td>Combined oxidative phosphorylation defect type 13</td></tr><tr><td>319519</td><td>Combined oxidative phosphorylation defect type 14</td></tr><tr><td>319524</td><td>Combined oxidative phosphorylation defect type 15</td></tr><tr><td>319547</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency</td></tr><tr><td>319552</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency</td></tr><tr><td>319558</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency</td></tr><tr><td>319563</td><td>Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</td></tr><tr><td>319569</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency</td></tr><tr><td>319574</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency</td></tr><tr><td>319581</td><td>Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency</td></tr><tr><td>319589</td><td>Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency</td></tr><tr><td>319595</td><td>Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency</td></tr><tr><td>3196</td><td>Steroid dehydrogenase deficiency-dental anomalies syndrome</td></tr><tr><td>319600</td><td>Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency</td></tr><tr><td>319605</td><td>X-linked mendelian susceptibility to mycobacterial diseases</td></tr><tr><td>319612</td><td>X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency</td></tr><tr><td>319623</td><td>X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency</td></tr><tr><td>319635</td><td>Amyloidosis cutis dyschromia</td></tr><tr><td>319640</td><td>Retinal macular dystrophy type 2</td></tr><tr><td>319646</td><td>PGM1-CDG</td></tr><tr><td>319651</td><td>Constitutional megaloblastic anemia with severe neurologic disease</td></tr><tr><td>319667</td><td>Primary lymphoma of the conjunctiva</td></tr><tr><td>319671</td><td>Alazami syndrome</td></tr><tr><td>319675</td><td>Microcephalic primordial dwarfism, Dauber type</td></tr><tr><td>319678</td><td>Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome</td></tr><tr><td>3197</td><td>Hereditary hyperekplexia</td></tr><tr><td>3198</td><td>Stiff person spectrum disorder</td></tr><tr><td>3199</td><td>Stimmler syndrome</td></tr><tr><td>32</td><td>Glutathione synthetase deficiency</td></tr><tr><td>320</td><td>Apparent mineralocorticoid excess</td></tr><tr><td>3200</td><td>Arthrogryposis-ectodermal dysplasia syndrome</td></tr><tr><td>3201</td><td>Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome</td></tr><tr><td>3202</td><td>Dehydrated hereditary stomatocytosis</td></tr><tr><td>3203</td><td>Overhydrated hereditary stomatocytosis</td></tr><tr><td>320355</td><td>Autosomal dominant spastic paraplegia type 41</td></tr><tr><td>320360</td><td>MT-ATP6-related mitochondrial spastic paraplegia</td></tr><tr><td>320365</td><td>Autosomal dominant spastic paraplegia type 36</td></tr><tr><td>320370</td><td>Autosomal recessive spastic paraplegia type 43</td></tr><tr><td>320375</td><td>Autosomal recessive spastic paraplegia type 55</td></tr><tr><td>320380</td><td>Autosomal recessive spastic paraplegia type 54</td></tr><tr><td>320385</td><td>Hereditary sensory and autonomic neuropathy due to TECPR2 mutation</td></tr><tr><td>320391</td><td>Autosomal recessive spastic paraplegia type 46</td></tr><tr><td>320396</td><td>Autosomal recessive spastic paraplegia type 45</td></tr><tr><td>3204</td><td>Stormorken-Sjaastad-Langslet syndrome</td></tr><tr><td>320401</td><td>Autosomal recessive spastic paraplegia type 44</td></tr><tr><td>320406</td><td>Spastic paraplegia-optic atrophy-neuropathy syndrome</td></tr><tr><td>320411</td><td>Autosomal recessive spastic paraplegia type 56</td></tr><tr><td>3205</td><td>Sturge-Weber syndrome</td></tr><tr><td>3206</td><td>Stüve-Wiedemann syndrome</td></tr><tr><td>3207</td><td>White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome</td></tr><tr><td>3208</td><td>Isolated succinate-CoQ reductase deficiency</td></tr><tr><td>321</td><td>Multiple osteochondromas</td></tr><tr><td>3210</td><td>Summitt syndrome</td></tr><tr><td>3214</td><td>Deaf blind hypopigmentation syndrome, Yemenite type</td></tr><tr><td>3216</td><td>Conductive deafness-malformed external ear syndrome</td></tr><tr><td>3217</td><td>Deafness-small bowel diverticulosis-neuropathy syndrome</td></tr><tr><td>3218</td><td>Deafness-epiphyseal dysplasia-short stature syndrome</td></tr><tr><td>3219</td><td>Fountain syndrome</td></tr><tr><td>322</td><td>Exstrophy-epispadias complex</td></tr><tr><td>3220</td><td>Deafness-enamel hypoplasia-nail defects syndrome</td></tr><tr><td>3222</td><td>Phosphoribosylpyrophosphate synthetase superactivity</td></tr><tr><td>3224</td><td>Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome</td></tr><tr><td>3225</td><td>Hearing loss-familial salivary gland insensitivity to aldosterone syndrome</td></tr><tr><td>3226</td><td>Deafness-lymphedema-leukemia syndrome</td></tr><tr><td>3230</td><td>Deafness-oligodontia syndrome</td></tr><tr><td>3232</td><td>Deafness-ear malformation-facial palsy syndrome</td></tr><tr><td>3233</td><td>Cochleosaccular degeneration-cataract syndrome</td></tr><tr><td>3235</td><td>Progressive deafness with stapes fixation</td></tr><tr><td>3236</td><td>Conductive deafness-ptosis-skeletal anomalies syndrome</td></tr><tr><td>3237</td><td>Multiple synostoses syndrome</td></tr><tr><td>3238</td><td>Cardiospondylocarpofacial syndrome</td></tr><tr><td>3239</td><td>Deafness-vitiligo-achalasia syndrome</td></tr><tr><td>324</td><td>Fabry disease</td></tr><tr><td>3240</td><td>Central nervous system calcification-deafness-tubular acidosis-anemia syndrome</td></tr><tr><td>3241</td><td>Deafness-craniofacial syndrome</td></tr><tr><td>3242</td><td>Renpenning syndrome</td></tr><tr><td>324262</td><td>Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency</td></tr><tr><td>324290</td><td>Early-onset Lafora body disease</td></tr><tr><td>324294</td><td>T-cell immunodeficiency with epidermodysplasia verruciformis</td></tr><tr><td>324299</td><td>Multiple paragangliomas associated with polycythemia</td></tr><tr><td>3243</td><td>Sweet syndrome</td></tr><tr><td>324307</td><td>Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome</td></tr><tr><td>324313</td><td>9p13 microdeletion syndrome</td></tr><tr><td>324321</td><td>Sinoatrial node dysfunction and deafness</td></tr><tr><td>324353</td><td>Congenital achiasma</td></tr><tr><td>324364</td><td>Mixed sclerosing bone dystrophy with extra-skeletal manifestations</td></tr><tr><td>324381</td><td>Hereditary inclusion body myopathy type 4</td></tr><tr><td>324410</td><td>X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome</td></tr><tr><td>324416</td><td>Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome</td></tr><tr><td>324422</td><td>ALG13-CDG</td></tr><tr><td>324442</td><td>Autosomal recessive axonal neuropathy with neuromyotonia</td></tr><tr><td>324525</td><td>Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation</td></tr><tr><td>324530</td><td>Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation</td></tr><tr><td>324535</td><td>Combined oxidative phosphorylation defect type 11</td></tr><tr><td>324540</td><td>Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome</td></tr><tr><td>324561</td><td>Hypopigmentation-punctate palmoplantar keratoderma syndrome</td></tr><tr><td>324569</td><td>Pontocerebellar hypoplasia type 8</td></tr><tr><td>324575</td><td>Hyperinsulinism due to HNF1A deficiency</td></tr><tr><td>324581</td><td>Benign Samaritan congenital myopathy</td></tr><tr><td>324585</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain</td></tr><tr><td>324588</td><td>Familial dyskinesia and facial myokymia</td></tr><tr><td>3246</td><td>Symphalangism with multiple anomalies of hands and feet</td></tr><tr><td>324601</td><td>X-linked cleft palate and ankyloglossia</td></tr><tr><td>324604</td><td>Classic multiminicore myopathy</td></tr><tr><td>324611</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation</td></tr><tr><td>324625</td><td>Chikungunya</td></tr><tr><td>324632</td><td>Hendra virus infection</td></tr><tr><td>324636</td><td>Autoerythrocyte sensitization syndrome</td></tr><tr><td>324648</td><td>Invasive non-typhoidal salmonellosis</td></tr><tr><td>324703</td><td>ABetaL34V amyloidosis</td></tr><tr><td>324708</td><td>ABeta amyloidosis, Iowa type</td></tr><tr><td>324713</td><td>ABeta amyloidosis, Italian type</td></tr><tr><td>324718</td><td>ABetaA21G amyloidosis</td></tr><tr><td>324723</td><td>ABeta amyloidosis, Arctic type</td></tr><tr><td>324737</td><td>SRD5A3-CDG</td></tr><tr><td>3248</td><td>Distal symphalangism</td></tr><tr><td>324964</td><td>Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis</td></tr><tr><td>324972</td><td>MAGIC syndrome</td></tr><tr><td>324977</td><td>Proteasome-associated autoinflammatory syndrome</td></tr><tr><td>325</td><td>Congenital factor II deficiency</td></tr><tr><td>3250</td><td>Proximal symphalangism</td></tr><tr><td>325124</td><td>Testicular agenesis</td></tr><tr><td>3253</td><td>Cleft lip/palate-ectodermal dysplasia syndrome</td></tr><tr><td>325345</td><td>46,XY ovotesticular difference of sex development</td></tr><tr><td>325448</td><td>Leydig cell hypoplasia due to LHB deficiency</td></tr><tr><td>3255</td><td>Filippi syndrome</td></tr><tr><td>325524</td><td>Classic congenital lipoid adrenal hyperplasia due to STAR deficency</td></tr><tr><td>325529</td><td>Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency</td></tr><tr><td>3258</td><td>Cenani-Lenz syndrome</td></tr><tr><td>3259</td><td>Syndactyly-polydactyly-ear lobe syndrome</td></tr><tr><td>326</td><td>Congenital factor V deficiency</td></tr><tr><td>3260</td><td>Idiopathic hypereosinophilic syndrome</td></tr><tr><td>3261</td><td>Autoimmune lymphoproliferative syndrome</td></tr><tr><td>3262</td><td>Dobrow syndrome</td></tr><tr><td>3263</td><td>Syngnathia-cleft palate syndrome</td></tr><tr><td>3265</td><td>Humero-radial synostosis</td></tr><tr><td>3266</td><td>Humero-radio-ulnar synostosis</td></tr><tr><td>3268</td><td>Radioulnar synostosis-microcephaly-scoliosis syndrome</td></tr><tr><td>3269</td><td>Congenital radioulnar synostosis</td></tr><tr><td>327</td><td>Congenital factor VII deficiency</td></tr><tr><td>3270</td><td>Radioulnar synostosis-developmental delay-hypotonia syndrome</td></tr><tr><td>3273</td><td>Synovial sarcoma</td></tr><tr><td>3275</td><td>Spondylocarpotarsal synostosis</td></tr><tr><td>328</td><td>Congenital factor X deficiency</td></tr><tr><td>3282</td><td>Multifocal atrial tachycardia</td></tr><tr><td>3283</td><td>His bundle tachycardia</td></tr><tr><td>3286</td><td>Catecholaminergic polymorphic ventricular tachycardia</td></tr><tr><td>3287</td><td>Takayasu arteritis</td></tr><tr><td>329</td><td>Congenital factor XI deficiency</td></tr><tr><td>3291</td><td>Teebi-Shaltout syndrome</td></tr><tr><td>329173</td><td>Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis</td></tr><tr><td>329178</td><td>Congenital muscular dystrophy with intellectual disability and severe epilepsy</td></tr><tr><td>329191</td><td>Tall stature-long halluces-multiple extra-epiphyses syndrome</td></tr><tr><td>329195</td><td>Developmental delay with autism spectrum disorder and gait instability</td></tr><tr><td>3292</td><td>Tel Hashomer camptodactyly syndrome</td></tr><tr><td>329211</td><td>Autosomal dominant neovascular inflammatory vitreoretinopathy</td></tr><tr><td>329217</td><td>Cerebral sinovenous thrombosis</td></tr><tr><td>329224</td><td>Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome</td></tr><tr><td>329228</td><td>Microcephalic primordial dwarfism due to ZNF335 deficiency</td></tr><tr><td>329235</td><td>X-linked central congenital hypothyroidism with late-onset testicular enlargement</td></tr><tr><td>329242</td><td>Congenital chronic diarrhea with protein-losing enteropathy</td></tr><tr><td>329249</td><td>Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency</td></tr><tr><td>329258</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2Q</td></tr><tr><td>329284</td><td>Beta-propeller protein-associated neurodegeneration</td></tr><tr><td>3293</td><td>Telecanthus-hypertelorism-strabismus-pes cavus syndrome</td></tr><tr><td>329308</td><td>Fatty acid hydroxylase-associated neurodegeneration</td></tr><tr><td>329314</td><td>Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency</td></tr><tr><td>329319</td><td>Thrombocythemia with distal limb defects</td></tr><tr><td>329324</td><td>Inverse Klippel-Trénaunay syndrome</td></tr><tr><td>329329</td><td>Autosomal recessive frontotemporal pachygyria</td></tr><tr><td>329332</td><td>Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome</td></tr><tr><td>329336</td><td>Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</td></tr><tr><td>3294</td><td>Extensor tendons of finger anomalies</td></tr><tr><td>329457</td><td>Distal arthrogryposis type 5D</td></tr><tr><td>329466</td><td>Autosomal dominant focal dystonia, DYT25 type</td></tr><tr><td>329469</td><td>Acute megakaryoblastic leukemia without Down syndrome</td></tr><tr><td>329475</td><td>Spastic paraplegia-Paget disease of bone syndrome</td></tr><tr><td>329478</td><td>Adult-onset distal myopathy due to VCP mutation</td></tr><tr><td>329481</td><td>Lipoprotein glomerulopathy</td></tr><tr><td>32960</td><td>Tumor necrosis factor receptor 1 associated periodic syndrome</td></tr><tr><td>329802</td><td>5p13 microduplication syndrome</td></tr><tr><td>329813</td><td>Mosaic genome-wide paternal uniparental disomy</td></tr><tr><td>329874</td><td>Idiopathic giant cell myocarditis</td></tr><tr><td>329883</td><td>Non-hypoproteinemic hypertrophic gastropathy</td></tr><tr><td>329894</td><td>Juvenile overlap myositis</td></tr><tr><td>3299</td><td>Tetanus</td></tr><tr><td>329903</td><td>Immunoglobulin-mediated membranoproliferative glomerulonephritis</td></tr><tr><td>329918</td><td>C3 glomerulopathy</td></tr><tr><td>329931</td><td>C3 glomerulonephritis</td></tr><tr><td>329942</td><td>Transient neonatal multiple acyl-CoA dehydrogenase deficiency</td></tr><tr><td>329967</td><td>Intermittent hydrarthrosis</td></tr><tr><td>329971</td><td>Generalized juvenile polyposis/juvenile polyposis coli</td></tr><tr><td>329977</td><td>Classic neuroendocrine tumor of appendix</td></tr><tr><td>329984</td><td>Goblet cell carcinoma</td></tr><tr><td>33</td><td>Isovaleric acidemia</td></tr><tr><td>330</td><td>Congenital factor XII deficiency</td></tr><tr><td>330001</td><td>Wild type ATTR amyloidosis</td></tr><tr><td>33001</td><td>Lymphedema-distichiasis syndrome</td></tr><tr><td>330012</td><td>High altitude pulmonary edema</td></tr><tr><td>330015</td><td>Lead poisoning</td></tr><tr><td>330021</td><td>Mercury poisoning</td></tr><tr><td>330029</td><td>Hypotrichosis-deafness syndrome</td></tr><tr><td>330032</td><td>Hemoglobin Lepore-beta-thalassemia syndrome</td></tr><tr><td>330041</td><td>Hemoglobin M disease</td></tr><tr><td>330050</td><td>DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect</td></tr><tr><td>330054</td><td>Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</td></tr><tr><td>330058</td><td>Hydroa vacciniforme</td></tr><tr><td>330061</td><td>Actinic prurigo</td></tr><tr><td>330064</td><td>Chronic actinic dermatitis</td></tr><tr><td>3301</td><td>Tetraamelia-multiple malformations syndrome</td></tr><tr><td>3303</td><td>Tetralogy of Fallot</td></tr><tr><td>3304</td><td>Fallot complex-intellectual disability-growth delay syndrome</td></tr><tr><td>3305</td><td>Tetraploidy</td></tr><tr><td>3306</td><td>Inverted duplicated chromosome 15 syndrome</td></tr><tr><td>33067</td><td>Metaphyseal chondrodysplasia, Jansen type</td></tr><tr><td>33069</td><td>Dravet syndrome</td></tr><tr><td>3307</td><td>Tetrasomy 18p</td></tr><tr><td>3309</td><td>Tetrasomy 5p</td></tr><tr><td>331</td><td>Congenital factor XIII deficiency</td></tr><tr><td>3310</td><td>Tetrasomy 9p</td></tr><tr><td>33108</td><td>Lethal multiple pterygium syndrome</td></tr><tr><td>33110</td><td>Autosomal agammaglobulinemia</td></tr><tr><td>33111</td><td>Granulomatous slack skin</td></tr><tr><td>331176</td><td>Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</td></tr><tr><td>331187</td><td>Immunodeficiency due to MASP-2 deficiency</td></tr><tr><td>331190</td><td>Immunodeficiency due to ficolin3 deficiency</td></tr><tr><td>3312</td><td>Thalidomide embryopathy</td></tr><tr><td>331206</td><td>Severe combined immunodeficiency due to complete RAG1/2 deficiency</td></tr><tr><td>331226</td><td>Susceptibility to infection due to TYK2 deficiency</td></tr><tr><td>331235</td><td>Selective IgM deficiency</td></tr><tr><td>3314</td><td>Thiemann disease, familial form</td></tr><tr><td>3316</td><td>Thomas syndrome</td></tr><tr><td>3317</td><td>Thoracolaryngopelvic dysplasia</td></tr><tr><td>3318</td><td>Essential thrombocythemia</td></tr><tr><td>3319</td><td>Congenital amegakaryocytic thrombocytopenia</td></tr><tr><td>332</td><td>Congenital intrinsic factor deficiency</td></tr><tr><td>3320</td><td>Thrombocytopenia-absent radius syndrome</td></tr><tr><td>33208</td><td>Idiopathic hypersomnia</td></tr><tr><td>3322</td><td>Hoyeraal-Hreidarsson syndrome</td></tr><tr><td>33226</td><td>Waldenström macroglobulinemia</td></tr><tr><td>3324</td><td>Familial thrombomodulin anomalies</td></tr><tr><td>3325</td><td>Heparin-induced thrombocytopenia</td></tr><tr><td>3326</td><td>Thymic-renal-anal-lung dysplasia</td></tr><tr><td>3327</td><td>Thyrocerebrorenal syndrome</td></tr><tr><td>33276</td><td>Kaposi sarcoma</td></tr><tr><td>3328</td><td>Absent tibia-polydactyly-arachnoid cyst syndrome</td></tr><tr><td>3329</td><td>Tibial aplasia-ectrodactyly syndrome</td></tr><tr><td>333</td><td>Farber disease</td></tr><tr><td>33314</td><td>Jessner lymphocytic infiltration of the skin</td></tr><tr><td>33355</td><td>Reticular dysgenesis</td></tr><tr><td>33364</td><td>Trichothiodystrophy</td></tr><tr><td>3337</td><td>Primary Fanconi renotubular syndrome</td></tr><tr><td>3338</td><td>Toriello-Carey syndrome</td></tr><tr><td>3339</td><td>Toriello-Lacassie-Droste syndrome</td></tr><tr><td>334</td><td>Familial atrial fibrillation</td></tr><tr><td>33402</td><td>Pediatric hepatocellular carcinoma</td></tr><tr><td>33408</td><td>Bullous lichen planus</td></tr><tr><td>3341</td><td>Torticollis-keloids-cryptorchidism-renal dysplasia syndrome</td></tr><tr><td>3342</td><td>Arterial tortuosity syndrome</td></tr><tr><td>3343</td><td>Toxocariasis</td></tr><tr><td>3344</td><td>Weismann-Netter syndrome</td></tr><tr><td>33445</td><td>Neuroectodermal melanolysosomal disease</td></tr><tr><td>3346</td><td>Tracheal agenesis</td></tr><tr><td>3347</td><td>Mounier-Kühn syndrome</td></tr><tr><td>33475</td><td>Meningococcal meningitis</td></tr><tr><td>3348</td><td>Tracheobronchopathia osteochondroplastica</td></tr><tr><td>335</td><td>Congenital fibrinogen deficiency</td></tr><tr><td>3350</td><td>Tremor-nystagmus-duodenal ulcer syndrome</td></tr><tr><td>3351</td><td>Trichodental syndrome</td></tr><tr><td>3352</td><td>Tricho-dento-osseous syndrome</td></tr><tr><td>3353</td><td>Trichodermodysplasia-dental alterations syndrome</td></tr><tr><td>33543</td><td>Kleine-Levin syndrome</td></tr><tr><td>3355</td><td>Trichoodontoonychial dysplasia</td></tr><tr><td>33572</td><td>5-oxoprolinase deficiency</td></tr><tr><td>33573</td><td>Gamma-glutamyl transpeptidase deficiency</td></tr><tr><td>33574</td><td>Glutamate-cysteine ligase deficiency</td></tr><tr><td>33577</td><td>Nodular non-suppurative panniculitis</td></tr><tr><td>3361</td><td>Trichodysplasia-xeroderma syndrome</td></tr><tr><td>3363</td><td>Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</td></tr><tr><td>3365</td><td>Trigonocephaly-broad thumbs syndrome</td></tr><tr><td>3366</td><td>Non-syndromic metopic craniosynostosis</td></tr><tr><td>3368</td><td>Trigonocephaly-bifid nose-acral anomalies syndrome</td></tr><tr><td>3369</td><td>Trigonocephaly-short stature-developmental delay syndrome</td></tr><tr><td>337</td><td>Fibrodysplasia ossificans progressiva</td></tr><tr><td>3374</td><td>Unilateral ocular duplication</td></tr><tr><td>3375</td><td>Trisomy X</td></tr><tr><td>3376</td><td>Triploidy</td></tr><tr><td>3377</td><td>Trismus-pseudocamptodactyly syndrome</td></tr><tr><td>3378</td><td>Trisomy 13</td></tr><tr><td>3379</td><td>Distal duplication 17q</td></tr><tr><td>3380</td><td>Trisomy 18</td></tr><tr><td>3383</td><td>Humerus trochlea aplasia</td></tr><tr><td>3384</td><td>Truncus arteriosus</td></tr><tr><td>3385</td><td>African trypanosomiasis</td></tr><tr><td>3386</td><td>American trypanosomiasis</td></tr><tr><td>3387</td><td>Isolated anterior cervical hypertrichosis</td></tr><tr><td>3392</td><td>Tularemia</td></tr><tr><td>340</td><td>Hemorrhagic fever-renal syndrome</td></tr><tr><td>3400</td><td>Aorto-ventricular tunnel</td></tr><tr><td>3402</td><td>Transient tyrosinemia of the newborn</td></tr><tr><td>3403</td><td>Uhl anomaly</td></tr><tr><td>3404</td><td>Ulbright-Hodes syndrome</td></tr><tr><td>3405</td><td>Umbilical cord ulceration-intestinal atresia syndrome</td></tr><tr><td>3406</td><td>Ulerythema ophryogenesis</td></tr><tr><td>3408</td><td>Upington disease</td></tr><tr><td>3409</td><td>Urban-Rogers-Meyer syndrome</td></tr><tr><td>3411</td><td>Double uterus-hemivagina-renal agenesis syndrome</td></tr><tr><td>3412</td><td>VACTERL with hydrocephalus</td></tr><tr><td>34149</td><td>Autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>3416</td><td>Hyperostosis corticalis generalisata</td></tr><tr><td>3417</td><td>Van den Bosch syndrome</td></tr><tr><td>342</td><td>Familial Mediterranean fever</td></tr><tr><td>34217</td><td>Naxos disease</td></tr><tr><td>3424</td><td>Velo-facial-skeletal syndrome</td></tr><tr><td>3426</td><td>Double outlet right ventricle</td></tr><tr><td>3427</td><td>Double outlet left ventricle</td></tr><tr><td>3429</td><td>Verloove Vanhorick-Brubakk syndrome</td></tr><tr><td>343</td><td>Hyperimmunoglobulinemia D with periodic fever</td></tr><tr><td>3433</td><td>Microcephaly-brachydactyly-kyphoscoliosis syndrome</td></tr><tr><td>3434</td><td>MMEP syndrome</td></tr><tr><td>3437</td><td>Vogt-Koyanagi-Harada disease</td></tr><tr><td>3439</td><td>Von Voss-Cherstvoy syndrome</td></tr><tr><td>3440</td><td>Waardenburg syndrome</td></tr><tr><td>3447</td><td>Weaver syndrome</td></tr><tr><td>3448</td><td>Weaver-Williams syndrome</td></tr><tr><td>3449</td><td>Weill-Marchesani syndrome</td></tr><tr><td>345</td><td>Dissecting cellulitis of the scalp</td></tr><tr><td>3451</td><td>Infantile spasms syndrome</td></tr><tr><td>34514</td><td>Telethonin-related limb-girdle muscular dystrophy R7</td></tr><tr><td>34515</td><td>FKRP-related limb-girdle muscular dystrophy R9</td></tr><tr><td>34516</td><td>DNAJB6-related limb-girdle muscular dystrophy D1</td></tr><tr><td>3452</td><td>Whipple disease</td></tr><tr><td>34520</td><td>Congenital muscular dystrophy with integrin alpha-7 deficiency</td></tr><tr><td>34528</td><td>Autosomal dominant primary hypomagnesemia with hypocalciuria</td></tr><tr><td>3453</td><td>Autoimmune polyendocrinopathy type 1</td></tr><tr><td>3454</td><td>Intellectual disability-developmental delay-contractures syndrome</td></tr><tr><td>3455</td><td>Wiedemann-Rautenstrauch syndrome</td></tr><tr><td>3456</td><td>Wildervanck syndrome</td></tr><tr><td>34587</td><td>Glycogen storage disease due to LAMP-2 deficiency</td></tr><tr><td>3459</td><td>Wilson-Turner syndrome</td></tr><tr><td>34592</td><td>Immunodeficiency by defective expression of MHC class I</td></tr><tr><td>346</td><td>Quinquaud folliculitis decalvans</td></tr><tr><td>3463</td><td>Wolfram syndrome</td></tr><tr><td>3464</td><td>Woodhouse-Sakati syndrome</td></tr><tr><td>3465</td><td>Worster-Drought syndrome</td></tr><tr><td>3466</td><td>WT limb-blood syndrome</td></tr><tr><td>3467</td><td>Hereditary xanthinuria</td></tr><tr><td>3469</td><td>XK aprosencephaly syndrome</td></tr><tr><td>347</td><td>Frasier syndrome</td></tr><tr><td>3471</td><td>Young syndrome</td></tr><tr><td>3472</td><td>Yunis-Varon syndrome</td></tr><tr><td>3473</td><td>Zimmermann-Laband syndrome</td></tr><tr><td>3474</td><td>CHIME syndrome</td></tr><tr><td>348</td><td>Fructose-1,6-bisphosphatase deficiency</td></tr><tr><td>349</td><td>Fucosidosis</td></tr><tr><td>35</td><td>Propionic acidemia</td></tr><tr><td>35062</td><td>Severe disseminated cytomegalovirus infection in immunocompetent patients</td></tr><tr><td>35063</td><td>Fulminant viral hepatitis</td></tr><tr><td>35069</td><td>Infantile neuroaxonal dystrophy</td></tr><tr><td>35078</td><td>T-B+ severe combined immunodeficiency due to JAK3 deficiency</td></tr><tr><td>35093</td><td>Non-syndromic sagittal craniosynostosis</td></tr><tr><td>35099</td><td>Non-syndromic bicoronal craniosynostosis</td></tr><tr><td>351</td><td>Galactosialidosis</td></tr><tr><td>35107</td><td>Desmosterolosis</td></tr><tr><td>35120</td><td>Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency</td></tr><tr><td>35121</td><td>Lysosomal acid phosphatase deficiency</td></tr><tr><td>35122</td><td>Congenital sucrase-isomaltase deficiency</td></tr><tr><td>35125</td><td>Epidermal nevus syndrome</td></tr><tr><td>35173</td><td>X-linked dominant chondrodysplasia punctata</td></tr><tr><td>352328</td><td>MEGDEL syndrome</td></tr><tr><td>352333</td><td>Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome</td></tr><tr><td>352403</td><td>Spectrin-associated autosomal recessive cerebellar ataxia</td></tr><tr><td>352447</td><td>Progressive external ophthalmoplegia-myopathy-emaciation syndrome</td></tr><tr><td>352470</td><td>DNA2-related mitochondrial DNA deletion syndrome</td></tr><tr><td>352479</td><td>ISPD-related limb-girdle muscular dystrophy R20</td></tr><tr><td>352490</td><td>Autism spectrum disorder due to AUTS2 deficiency</td></tr><tr><td>352530</td><td>Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</td></tr><tr><td>352540</td><td>Oncogenic osteomalacia</td></tr><tr><td>352563</td><td>Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency</td></tr><tr><td>352577</td><td>Bainbridge-Ropers syndrome</td></tr><tr><td>352582</td><td>Familial infantile myoclonic epilepsy</td></tr><tr><td>352587</td><td>Focal epilepsy-intellectual disability-cerebro-cerebellar malformation</td></tr><tr><td>352596</td><td>Progressive myoclonic epilepsy with dystonia</td></tr><tr><td>352629</td><td>16q24.1 microdeletion syndrome</td></tr><tr><td>352636</td><td>Phalangeal microgeodic syndrome</td></tr><tr><td>352641</td><td>Autosomal recessive cerebellar ataxia with late-onset spasticity</td></tr><tr><td>352649</td><td>Brain dopamine-serotonin vesicular transport disease</td></tr><tr><td>352654</td><td>Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome</td></tr><tr><td>352657</td><td>Hereditary benign intraepithelial dyskeratosis</td></tr><tr><td>352662</td><td>Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome</td></tr><tr><td>352665</td><td>Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion</td></tr><tr><td>352670</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type F</td></tr><tr><td>352675</td><td>X-linked Charcot-Marie-Tooth disease type 6</td></tr><tr><td>352682</td><td>Cobblestone lissencephaly without muscular or ocular involvement</td></tr><tr><td>352709</td><td>CLN13 disease</td></tr><tr><td>352712</td><td>Facial dysmorphism-immunodeficiency-livedo-short stature syndrome</td></tr><tr><td>352718</td><td>Progressive retinal dystrophy due to retinol transport defect</td></tr><tr><td>352723</td><td>Attenuated Chédiak-Higashi syndrome</td></tr><tr><td>352731</td><td>Oculocutaneous albinism type 1</td></tr><tr><td>352734</td><td>Minimal pigment oculocutaneous albinism type 1</td></tr><tr><td>352737</td><td>Temperature-sensitive oculocutaneous albinism type 1</td></tr><tr><td>352745</td><td>Oculocutaneous albinism type 7</td></tr><tr><td>352763</td><td>Scleredema</td></tr><tr><td>353</td><td>Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5</td></tr><tr><td>353217</td><td>Epileptic encephalopathy with global cerebral demyelination</td></tr><tr><td>353220</td><td>Familial primary localized cutaneous amyloidosis</td></tr><tr><td>353253</td><td>Burning mouth syndrome</td></tr><tr><td>353277</td><td>Rubinstein-Taybi syndrome due to CREBBP mutations</td></tr><tr><td>353281</td><td>Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</td></tr><tr><td>353284</td><td>Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</td></tr><tr><td>353298</td><td>Roifman syndrome</td></tr><tr><td>353308</td><td>Pyruvate carboxylase deficiency, infantile type</td></tr><tr><td>353314</td><td>Pyruvate carboxylase deficiency, severe neonatal type</td></tr><tr><td>353320</td><td>Pyruvate carboxylase deficiency, benign type</td></tr><tr><td>353327</td><td>Congenital myasthenic syndromes with glycosylation defect</td></tr><tr><td>353334</td><td>Congenital retinal arteriovenous communication</td></tr><tr><td>353344</td><td>Idiopathic macular telangiectasia type 1</td></tr><tr><td>353351</td><td>Idiopathic macular telangiectasia type 3</td></tr><tr><td>353356</td><td>Vasoproliferative tumor of the retina</td></tr><tr><td>354</td><td>GM1 gangliosidosis</td></tr><tr><td>355</td><td>Gaucher disease</td></tr><tr><td>356</td><td>Gerstmann-Straussler-Scheinker syndrome</td></tr><tr><td>35612</td><td>Nanophthalmos</td></tr><tr><td>35664</td><td>ALDH18A1-related De Barsy syndrome</td></tr><tr><td>35686</td><td>Serpiginous choroiditis</td></tr><tr><td>35687</td><td>Erdheim-Chester disease</td></tr><tr><td>35689</td><td>Primary lateral sclerosis</td></tr><tr><td>356947</td><td>3q26q27 microdeletion syndrome</td></tr><tr><td>356961</td><td>SLC35A2-CDG</td></tr><tr><td>356978</td><td>D,L-2-hydroxyglutaric aciduria</td></tr><tr><td>356996</td><td>ANK3-related intellectual disability-sleep disturbance syndrome</td></tr><tr><td>357001</td><td>19p13.13 microdeletion syndrome</td></tr><tr><td>357008</td><td>Hemolytic uremic syndrome with DGKE deficiency</td></tr><tr><td>35701</td><td>3-hydroxy-3-methylglutaryl-CoA synthase deficiency</td></tr><tr><td>357027</td><td>Hereditary retinoblastoma</td></tr><tr><td>357034</td><td>Non-hereditary retinoblastoma</td></tr><tr><td>35704</td><td>L-Arginine:glycine amidinotransferase deficiency</td></tr><tr><td>357043</td><td>Amyotrophic lateral sclerosis type 4</td></tr><tr><td>357058</td><td>Autosomal recessive cutis laxa type 2A</td></tr><tr><td>35706</td><td>Glutaric acidemia type 3</td></tr><tr><td>357064</td><td>Autosomal recessive cutis laxa type 2B</td></tr><tr><td>357074</td><td>Autosomal recessive cutis laxa type 2, classic type</td></tr><tr><td>35708</td><td>Aromatic L-amino acid decarboxylase deficiency</td></tr><tr><td>35710</td><td>Glucose-galactose malabsorption</td></tr><tr><td>357107</td><td>Arterial thoracic outlet syndrome</td></tr><tr><td>357131</td><td>Venous thoracic outlet syndrome</td></tr><tr><td>357154</td><td>Oral submucous fibrosis</td></tr><tr><td>357158</td><td>Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</td></tr><tr><td>357175</td><td>Short ulna-dysmorphism-hypotonia-intellectual disability syndrome</td></tr><tr><td>357220</td><td>Primary essential cutis verticis gyrata</td></tr><tr><td>357225</td><td>Primary non-essential cutis verticis gyrata</td></tr><tr><td>357237</td><td>Severe combined immunodeficiency due to CARD11 deficiency</td></tr><tr><td>357329</td><td>Combined immunodeficiency due to IL21R deficiency</td></tr><tr><td>357332</td><td>Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome</td></tr><tr><td>35737</td><td>Morning glory disc anomaly</td></tr><tr><td>358</td><td>Gitelman syndrome</td></tr><tr><td>35858</td><td>Imerslund-Gräsbeck syndrome</td></tr><tr><td>35878</td><td>Hyperinsulinism-hyperammonemia syndrome</td></tr><tr><td>35889</td><td>Acute opioid intoxication</td></tr><tr><td>35909</td><td>Combined deficiency of factor V and factor VIII</td></tr><tr><td>36</td><td>Acrocallosal syndrome</td></tr><tr><td>360</td><td>Glioblastoma</td></tr><tr><td>361</td><td>Familial glucocorticoid deficiency</td></tr><tr><td>36234</td><td>Bacterial toxic-shock syndrome</td></tr><tr><td>36235</td><td>Staphylococcal scarlet fever</td></tr><tr><td>36236</td><td>Staphylococcal scalded skin syndrome</td></tr><tr><td>36237</td><td>Bullous impetigo</td></tr><tr><td>36238</td><td>Staphylococcal necrotizing pneumonia</td></tr><tr><td>36258</td><td>Buerger disease</td></tr><tr><td>36273</td><td>Gastric linitis plastica</td></tr><tr><td>363396</td><td>High myopia-sensorineural deafness syndrome</td></tr><tr><td>363400</td><td>Severe neurodegenerative syndrome with lipodystrophy</td></tr><tr><td>363409</td><td>Fetal akinesia-cerebral and retinal hemorrhage syndrome</td></tr><tr><td>363412</td><td>Hypomyelination with brain stem and spinal cord involvement and leg spasticity</td></tr><tr><td>363417</td><td>Temtamy preaxial brachydactyly syndrome</td></tr><tr><td>363424</td><td>Multiple mitochondrial dysfunctions syndrome type 3</td></tr><tr><td>363429</td><td>Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome</td></tr><tr><td>363432</td><td>Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency</td></tr><tr><td>363444</td><td>THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome</td></tr><tr><td>363447</td><td>Autosomal dominant childhood-onset proximal spinal muscular atrophy</td></tr><tr><td>363454</td><td>BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy</td></tr><tr><td>363478</td><td>Paratesticular adenocarcinoma</td></tr><tr><td>363483</td><td>Testicular teratoma</td></tr><tr><td>363489</td><td>Sex cord-stromal tumor of testis</td></tr><tr><td>363494</td><td>Non-seminomatous germ cell tumor of testis</td></tr><tr><td>363523</td><td>Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome</td></tr><tr><td>363528</td><td>Intellectual disability-strabismus syndrome</td></tr><tr><td>363534</td><td>Mitochondrial DNA depletion syndrome, hepatocerebrorenal form</td></tr><tr><td>363540</td><td>Leukoencephalopathy with mild cerebellar ataxia and white matter edema</td></tr><tr><td>363549</td><td>Acute encephalopathy with biphasic seizures and late reduced diffusion</td></tr><tr><td>36355</td><td>Bleeding disorder due to P2Y12 defect</td></tr><tr><td>363558</td><td>New-onset refractory status epilepticus</td></tr><tr><td>363611</td><td>CTCF-related neurodevelopmental disorder</td></tr><tr><td>363618</td><td>LMNA-related cardiocutaneous progeria syndrome</td></tr><tr><td>363623</td><td>GMPPB-related limb-girdle muscular dystrophy R19</td></tr><tr><td>363649</td><td>Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome</td></tr><tr><td>363654</td><td>X-linked parkinsonism-spasticity syndrome</td></tr><tr><td>363659</td><td>20q11.2 microduplication syndrome</td></tr><tr><td>363665</td><td>Acroosteolysis-keloid-like lesions-premature aging syndrome</td></tr><tr><td>36367</td><td>Distal deletion 1q</td></tr><tr><td>363677</td><td>Childhood-onset autosomal recessive myopathy with external ophthalmoplegia</td></tr><tr><td>363680</td><td>2p13.2 microdeletion syndrome</td></tr><tr><td>363686</td><td>Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome</td></tr><tr><td>363694</td><td>Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome</td></tr><tr><td>363700</td><td>Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</td></tr><tr><td>363705</td><td>Craniofaciofrontodigital syndrome</td></tr><tr><td>363710</td><td>Spinocerebellar ataxia type 37</td></tr><tr><td>363717</td><td>Alexander disease type I</td></tr><tr><td>363722</td><td>Alexander disease type II</td></tr><tr><td>363727</td><td>X-linked dyserythropoietic anemia with abnormal platelets and neutropenia</td></tr><tr><td>363741</td><td>Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome</td></tr><tr><td>363746</td><td>Balint syndrome</td></tr><tr><td>36382</td><td>Familial cervical artery dissection</td></tr><tr><td>36383</td><td>COL4A1-related familial vascular leukoencephalopathy</td></tr><tr><td>36386</td><td>Hereditary sensory and autonomic neuropathy type 1</td></tr><tr><td>36387</td><td>Generalized epilepsy with febrile seizures-plus</td></tr><tr><td>363958</td><td>17q21.31 microdeletion syndrome</td></tr><tr><td>363965</td><td>Koolen-De Vries syndrome due to a point mutation</td></tr><tr><td>363969</td><td>Autosomal recessive cerebral atrophy</td></tr><tr><td>36397</td><td>Adiposis dolorosa</td></tr><tr><td>363972</td><td>Noonan syndrome-like disorder with juvenile myelomonocytic leukemia</td></tr><tr><td>363976</td><td>Giant cell tumor of bone</td></tr><tr><td>363981</td><td>Charcot-Marie-Tooth disease type 4B3</td></tr><tr><td>363989</td><td>Familial benign flecked retina</td></tr><tr><td>363992</td><td>Ichthyosis-short stature-brachydactyly-microspherophakia syndrome</td></tr><tr><td>363999</td><td>Non-immune hydrops fetalis</td></tr><tr><td>364</td><td>Glycogen storage disease due to glucose-6-phosphatase deficiency</td></tr><tr><td>364013</td><td>Immune hydrops fetalis</td></tr><tr><td>364028</td><td>X-linked intellectual disability due to GRIA3 mutations</td></tr><tr><td>364033</td><td>Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood</td></tr><tr><td>364039</td><td>Hydroa vacciniforme-like lymphoma</td></tr><tr><td>364043</td><td>ALK-positive large B-cell lymphoma</td></tr><tr><td>364055</td><td>Severe early-childhood-onset retinal dystrophy</td></tr><tr><td>364063</td><td>Infantile epileptic-dyskinetic encephalopathy</td></tr><tr><td>36412</td><td>Hypocomplementemic urticarial vasculitis</td></tr><tr><td>364198</td><td>Bipartite talus</td></tr><tr><td>36426</td><td>Stevens-Johnson syndrome</td></tr><tr><td>364577</td><td>Intellectual disability-brachydactyly-Pierre Robin syndrome</td></tr><tr><td>365</td><td>Glycogen storage disease due to acid maltase deficiency</td></tr><tr><td>366</td><td>Glycogen storage disease due to glycogen debranching enzyme deficiency</td></tr><tr><td>367</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency</td></tr><tr><td>368</td><td>Glycogen storage disease due to muscle glycogen phosphorylase deficiency</td></tr><tr><td>36899</td><td>Myoclonus-dystonia syndrome</td></tr><tr><td>369</td><td>Glycogen storage disease due to liver glycogen phosphorylase deficiency</td></tr><tr><td>36913</td><td>Autoimmune hypoparathyroidism</td></tr><tr><td>369837</td><td>Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome</td></tr><tr><td>369840</td><td>TRAPPC11-related limb-girdle muscular dystrophy R18</td></tr><tr><td>369847</td><td>Intellectual disability-hyperkinetic movement-truncal ataxia syndrome</td></tr><tr><td>369852</td><td>Congenital neutropenia-myelofibrosis-nephromegaly syndrome</td></tr><tr><td>369861</td><td>Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</td></tr><tr><td>369867</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type C</td></tr><tr><td>369873</td><td>Obesity due to SIM1 deficiency</td></tr><tr><td>369881</td><td>2p21 microdeletion syndrome without cystinuria</td></tr><tr><td>369891</td><td>Developmental delay-facial dysmorphism syndrome due to MED13L deficiency</td></tr><tr><td>369897</td><td>Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies</td></tr><tr><td>369913</td><td>Combined oxidative phosphorylation defect type 17</td></tr><tr><td>369920</td><td>Pontocerebellar hypoplasia type 9</td></tr><tr><td>369929</td><td>Primary hyperaldosteronism-seizures-neurological abnormalities syndrome</td></tr><tr><td>369939</td><td>Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome</td></tr><tr><td>369942</td><td>CADDS</td></tr><tr><td>369950</td><td>Intellectual disability-seizures-macrocephaly-obesity syndrome</td></tr><tr><td>369955</td><td>Methylmalonic acidemia with homocystinuria, type cblJ</td></tr><tr><td>369962</td><td>Methylmalonic acidemia with homocystinuria, type cblX</td></tr><tr><td>369970</td><td>Microcornea-myopic chorioretinal atrophy-telecanthus syndrome</td></tr><tr><td>369979</td><td>Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome</td></tr><tr><td>369992</td><td>Severe dermatitis-multiple allergies-metabolic wasting syndrome</td></tr><tr><td>369999</td><td>Diffuse palmoplantar keratoderma with painful fissures</td></tr><tr><td>37</td><td>Acrodermatitis enteropathica</td></tr><tr><td>370002</td><td>Focal palmoplantar keratoderma with joint keratoses</td></tr><tr><td>370010</td><td>Intellectual disability-facial dysmorphism-hand anomalies syndrome</td></tr><tr><td>370015</td><td>Spondyloepimetaphyseal dysplasia, Isidor-Toutain type</td></tr><tr><td>370022</td><td>Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome</td></tr><tr><td>370026</td><td>Acute myeloid leukemia with t(8;16)(p11;p13) translocation</td></tr><tr><td>370034</td><td>Familial syringomyelia</td></tr><tr><td>370039</td><td>Angora hair nevus</td></tr><tr><td>370046</td><td>Didymosis aplasticosebacea</td></tr><tr><td>370052</td><td>SCALP syndrome</td></tr><tr><td>370059</td><td>NEVADA syndrome</td></tr><tr><td>370076</td><td>Fetal carbamazepine syndrome</td></tr><tr><td>370079</td><td>Proximal 16p11.2 microduplication syndrome</td></tr><tr><td>370088</td><td>Acute infantile liver failure-multisystemic involvement syndrome</td></tr><tr><td>370091</td><td>Oculocutaneous albinism type 5</td></tr><tr><td>370097</td><td>Oculocutaneous albinism type 6</td></tr><tr><td>370103</td><td>Primary dystonia, DYT17 type</td></tr><tr><td>370109</td><td>Ataxia-telangiectasia variant</td></tr><tr><td>370127</td><td>Medich giant platelet syndrome</td></tr><tr><td>370131</td><td>White platelet syndrome</td></tr><tr><td>370334</td><td>Extraskeletal Ewing sarcoma</td></tr><tr><td>370348</td><td>Peripheral primitive neuroectodermal tumor</td></tr><tr><td>370396</td><td>Small cell carcinoma of the ovary</td></tr><tr><td>37042</td><td>Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome</td></tr><tr><td>370921</td><td>STT3A-CDG</td></tr><tr><td>370924</td><td>STT3B-CDG</td></tr><tr><td>370927</td><td>SSR4-CDG</td></tr><tr><td>370930</td><td>XYLT1-CDG</td></tr><tr><td>370933</td><td>GM3 synthase deficiency</td></tr><tr><td>370943</td><td>Autism spectrum disorder-epilepsy-arthrogryposis syndrome</td></tr><tr><td>370959</td><td>Congenital muscular dystrophy with cerebellar involvement</td></tr><tr><td>370968</td><td>Congenital muscular dystrophy with intellectual disability</td></tr><tr><td>370980</td><td>Congenital muscular dystrophy without intellectual disability</td></tr><tr><td>370997</td><td>Muscle-eye-brain disease with bilateral multicystic leucodystrophy</td></tr><tr><td>371</td><td>Glycogen storage disease due to muscle phosphofructokinase deficiency</td></tr><tr><td>371007</td><td>Congenital muscular dystrophy with hyperlaxity</td></tr><tr><td>371364</td><td>Hypotonia-speech impairment-severe cognitive delay syndrome</td></tr><tr><td>371428</td><td>Multicentric osteolysis-nodulosis-arthropathy spectrum</td></tr><tr><td>37202</td><td>Interstitial cystitis</td></tr><tr><td>373</td><td>Simpson-Golabi-Behmel syndrome</td></tr><tr><td>375</td><td>Anti-glomerular basement membrane disease</td></tr><tr><td>37553</td><td>Andersen-Tawil syndrome</td></tr><tr><td>37559</td><td>Acquired kinky hair syndrome</td></tr><tr><td>376</td><td>Gordon syndrome</td></tr><tr><td>37612</td><td>Episodic ataxia type 1</td></tr><tr><td>377</td><td>Gorlin syndrome</td></tr><tr><td>37748</td><td>Schnitzler syndrome</td></tr><tr><td>379</td><td>Chronic granulomatous disease</td></tr><tr><td>38</td><td>Acrokeratoelastoidosis of Costa</td></tr><tr><td>380</td><td>Greig cephalopolysyndactyly syndrome</td></tr><tr><td>381</td><td>Griscelli syndrome</td></tr><tr><td>382</td><td>Guanidinoacetate methyltransferase deficiency</td></tr><tr><td>384</td><td>Huriez syndrome</td></tr><tr><td>386</td><td>Hepatic cystic hamartoma</td></tr><tr><td>388</td><td>Hirschsprung disease</td></tr><tr><td>38874</td><td>Dihydropyrimidinuria</td></tr><tr><td>389</td><td>Langerhans cell histiocytosis</td></tr><tr><td>39</td><td>Acromelanosis</td></tr><tr><td>390</td><td>Histoplasmosis</td></tr><tr><td>39041</td><td>Omenn syndrome</td></tr><tr><td>39044</td><td>Uveal melanoma</td></tr><tr><td>391</td><td>Classic Hodgkin lymphoma</td></tr><tr><td>391307</td><td>Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome</td></tr><tr><td>391311</td><td>Susceptibility to viral and mycobacterial infections due to STAT1 deficiency</td></tr><tr><td>391316</td><td>Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression</td></tr><tr><td>391320</td><td>East Texas bleeding disorder</td></tr><tr><td>391327</td><td>X-linked calvarial hyperostosis</td></tr><tr><td>391330</td><td>X-linked osteoporosis with fractures</td></tr><tr><td>391343</td><td>Fatal post-viral neurodegenerative disorder</td></tr><tr><td>391348</td><td>Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</td></tr><tr><td>391351</td><td>SURF1-related Charcot-Marie-Tooth disease type 4</td></tr><tr><td>391366</td><td>Growth retardation-mild developmental delay-chronic hepatitis syndrome</td></tr><tr><td>391372</td><td>Intellectual disability-severe speech delay-mild dysmorphism syndrome</td></tr><tr><td>391376</td><td>Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome</td></tr><tr><td>391384</td><td>Familial episodic pain syndrome</td></tr><tr><td>391389</td><td>Familial episodic pain syndrome with predominantly upper body involvement</td></tr><tr><td>391392</td><td>Familial episodic pain syndrome with predominantly lower limb involvement</td></tr><tr><td>391397</td><td>Hereditary sensory and autonomic neuropathy type 7</td></tr><tr><td>391408</td><td>Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome</td></tr><tr><td>391411</td><td>Atypical juvenile parkinsonism</td></tr><tr><td>391417</td><td>HSD10 disease</td></tr><tr><td>391428</td><td>HSD10 disease, infantile type</td></tr><tr><td>391457</td><td>HSD10 disease, neonatal type</td></tr><tr><td>391474</td><td>Frontorhiny</td></tr><tr><td>391487</td><td>Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome</td></tr><tr><td>391490</td><td>Adult-onset myasthenia gravis</td></tr><tr><td>391497</td><td>Juvenile myasthenia gravis</td></tr><tr><td>391504</td><td>Transient neonatal myasthenia gravis</td></tr><tr><td>391641</td><td>Feingold syndrome type 1</td></tr><tr><td>391646</td><td>Feingold syndrome type 2</td></tr><tr><td>391651</td><td>Glomus tumor</td></tr><tr><td>391655</td><td>Off-periods in Parkinson disease not responding to oral treatment</td></tr><tr><td>391665</td><td>Homozygous familial hypercholesterolemia</td></tr><tr><td>391673</td><td>Necrotizing enterocolitis</td></tr><tr><td>391677</td><td>Short stature-optic atrophy-Pelger-Huët anomaly syndrome</td></tr><tr><td>391723</td><td>Mucinous adenocarcinoma of the appendix</td></tr><tr><td>392</td><td>Holt-Oram syndrome</td></tr><tr><td>393</td><td>46,XX testicular difference of sex development</td></tr><tr><td>394</td><td>Classic homocystinuria</td></tr><tr><td>394529</td><td>Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type</td></tr><tr><td>394532</td><td>Multiple acyl-CoA dehydrogenase deficiency, mild type</td></tr><tr><td>395</td><td>Homocystinuria due to methylene tetrahydrofolate reductase deficiency</td></tr><tr><td>396</td><td>Chronic hiccup</td></tr><tr><td>397</td><td>Giant cell arteritis</td></tr><tr><td>397587</td><td>Deep dermatophytosis</td></tr><tr><td>397590</td><td>Silver-Russell syndrome due to a point mutation</td></tr><tr><td>397593</td><td>Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency</td></tr><tr><td>397596</td><td>Activated PI3K-delta syndrome</td></tr><tr><td>397606</td><td>PrP systemic amyloidosis</td></tr><tr><td>397612</td><td>Macrocephaly-developmental delay syndrome</td></tr><tr><td>397615</td><td>Obesity due to CEP19 deficiency</td></tr><tr><td>397618</td><td>Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome</td></tr><tr><td>397623</td><td>Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome</td></tr><tr><td>397685</td><td>Familial hyperprolactinemia</td></tr><tr><td>397692</td><td>Hereditary isolated aplastic anemia</td></tr><tr><td>397695</td><td>3q27.3 microdeletion syndrome</td></tr><tr><td>397709</td><td>Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome</td></tr><tr><td>397715</td><td>Joubert syndrome with Jeune asphyxiating thoracic dystrophy</td></tr><tr><td>397725</td><td>COASY protein-associated neurodegeneration</td></tr><tr><td>397735</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2U</td></tr><tr><td>397744</td><td>Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome</td></tr><tr><td>397750</td><td>Periodic paralysis with later-onset distal motor neuropathy</td></tr><tr><td>397755</td><td>Periodic paralysis with transient compartment-like syndrome</td></tr><tr><td>397758</td><td>Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies</td></tr><tr><td>397787</td><td>Severe combined immunodeficiency due to IKK2 deficiency</td></tr><tr><td>397922</td><td>Ferro-cerebro-cutaneous syndrome</td></tr><tr><td>397927</td><td>Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome</td></tr><tr><td>397933</td><td>Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome</td></tr><tr><td>397937</td><td>Polyglucosan body myopathy type 1</td></tr><tr><td>397941</td><td>MAN1B1-CDG</td></tr><tr><td>397946</td><td>Autosomal spastic paraplegia type 58</td></tr><tr><td>397951</td><td>Microcephaly-thin corpus callosum-intellectual disability syndrome</td></tr><tr><td>397959</td><td>TCR-alpha-beta-positive T-cell deficiency</td></tr><tr><td>397964</td><td>Combined immunodeficiency due to MALT1 deficiency</td></tr><tr><td>397968</td><td>Charcot-Marie-Tooth disease type 2R</td></tr><tr><td>397973</td><td>Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome</td></tr><tr><td>398053</td><td>Adenocarcinoma of the penis</td></tr><tr><td>398058</td><td>Squamous cell carcinoma of the penis</td></tr><tr><td>398063</td><td>Refractory celiac disease</td></tr><tr><td>398069</td><td>MAGEL2-related Prader-Willi-like syndrome</td></tr><tr><td>398079</td><td>SIM1-related Prader-Willi-like syndrome</td></tr><tr><td>398088</td><td>Hereditary cryohydrocytosis with normal stomatin</td></tr><tr><td>398097</td><td>Neonatal antiphospholipid syndrome</td></tr><tr><td>398109</td><td>Neonatal autoimmune hemolytic anemia</td></tr><tr><td>398117</td><td>Neonatal dermatomyositis</td></tr><tr><td>39812</td><td>Graft versus host disease</td></tr><tr><td>398124</td><td>Neonatal lupus erythematosus</td></tr><tr><td>398127</td><td>Neonatal scleroderma</td></tr><tr><td>398147</td><td>Persistent idiopathic facial pain</td></tr><tr><td>398156</td><td>Oculoauriculofrontonasal syndrome</td></tr><tr><td>398166</td><td>Focal facial dermal dysplasia</td></tr><tr><td>398173</td><td>Focal facial dermal dysplasia type II</td></tr><tr><td>398189</td><td>Focal facial dermal dysplasia type IV</td></tr><tr><td>398961</td><td>Mucinous adenocarcinoma of ovary</td></tr><tr><td>398971</td><td>Clear cell adenocarcinoma of the ovary</td></tr><tr><td>398987</td><td>Malignant teratoma of ovary</td></tr><tr><td>399</td><td>Huntington disease</td></tr><tr><td>399058</td><td>Alpha-B crystallin-related late-onset myopathy</td></tr><tr><td>399081</td><td>KLHL9-related early-onset distal myopathy</td></tr><tr><td>399086</td><td>Finnish upper limb-onset distal myopathy</td></tr><tr><td>399096</td><td>Distal anoctaminopathy</td></tr><tr><td>399103</td><td>Distal nebulin myopathy</td></tr><tr><td>399175</td><td>Traumatic avascular necrosis</td></tr><tr><td>399180</td><td>Secondary non-traumatic avascular necrosis</td></tr><tr><td>399293</td><td>Osteonecrosis of the jaw</td></tr><tr><td>399307</td><td>Idiopathic avascular necrosis</td></tr><tr><td>399329</td><td>Epiphysiolysis of the hip</td></tr><tr><td>399805</td><td>Male infertility with azoospermia or oligozoospermia due to single gene mutation</td></tr><tr><td>399808</td><td>Male infertility with teratozoospermia due to single gene mutation</td></tr><tr><td>40</td><td>Acromesomelic dysplasia, Maroteaux type</td></tr><tr><td>400</td><td>Cystic echinococcosis</td></tr><tr><td>401</td><td>Hymenolepiasis</td></tr><tr><td>401764</td><td>Pancytopenia-developmental delay syndrome</td></tr><tr><td>401768</td><td>Proximal myopathy with extrapyramidal signs</td></tr><tr><td>401777</td><td>Optic atrophy-intellectual disability syndrome</td></tr><tr><td>401780</td><td>Autosomal recessive spastic paraplegia type 61</td></tr><tr><td>401785</td><td>Autosomal recessive spastic paraplegia type 62</td></tr><tr><td>401795</td><td>Autosomal recessive spastic paraplegia type 59</td></tr><tr><td>401800</td><td>Autosomal recessive spastic paraplegia type 60</td></tr><tr><td>401805</td><td>Autosomal recessive spastic paraplegia type 63</td></tr><tr><td>401810</td><td>Autosomal recessive spastic paraplegia type 64</td></tr><tr><td>401815</td><td>Autosomal recessive spastic paraplegia type 66</td></tr><tr><td>401820</td><td>Autosomal recessive spastic paraplegia type 67</td></tr><tr><td>401830</td><td>Autosomal recessive spastic paraplegia type 69</td></tr><tr><td>401835</td><td>Autosomal recessive spastic paraplegia type 70</td></tr><tr><td>401840</td><td>Autosomal recessive spastic paraplegia type 71</td></tr><tr><td>401849</td><td>Autosomal spastic paraplegia type 72</td></tr><tr><td>401859</td><td>Lipoic acid synthetase deficiency</td></tr><tr><td>401862</td><td>Lipoyl transferase 1 deficiency</td></tr><tr><td>401866</td><td>Childhood-onset spasticity with hyperglycinemia</td></tr><tr><td>401869</td><td>Multiple mitochondrial dysfunctions syndrome type 1</td></tr><tr><td>401874</td><td>Multiple mitochondrial dysfunctions syndrome type 2</td></tr><tr><td>401901</td><td>Huntington disease-like syndrome due to C9ORF72 expansions</td></tr><tr><td>401911</td><td>AXIN2-related attenuated familial adenomatous polyposis</td></tr><tr><td>401920</td><td>Fibrolamellar hepatocellular carcinoma</td></tr><tr><td>401923</td><td>9q31.1q31.3 microdeletion syndrome</td></tr><tr><td>401935</td><td>14q24.1q24.3 microdeletion syndrome</td></tr><tr><td>401942</td><td>Familial median cleft of the upper and lower lips</td></tr><tr><td>401945</td><td>Moyamoya disease with early-onset achalasia</td></tr><tr><td>401948</td><td>Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency</td></tr><tr><td>401953</td><td>Episodic ataxia with slurred speech</td></tr><tr><td>401959</td><td>Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome</td></tr><tr><td>401964</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons</td></tr><tr><td>401973</td><td>MEND syndrome</td></tr><tr><td>401979</td><td>Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type</td></tr><tr><td>401986</td><td>1p31p32 microdeletion syndrome</td></tr><tr><td>401996</td><td>Karyomegalic interstitial nephritis</td></tr><tr><td>402003</td><td>Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering</td></tr><tr><td>402014</td><td>Acute myeloid leukemia with t(6;9)(p23;q34)</td></tr><tr><td>402017</td><td>Acute myeloid leukemia with t(9;11)(p22;q23)</td></tr><tr><td>402020</td><td>Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)</td></tr><tr><td>402023</td><td>Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)</td></tr><tr><td>402026</td><td>Acute myeloid leukemia with NPM1 somatic mutations</td></tr><tr><td>402035</td><td>Eosinophilic colitis</td></tr><tr><td>402041</td><td>Autosomal recessive distal renal tubular acidosis</td></tr><tr><td>402075</td><td>Familial bicuspid aortic valve</td></tr><tr><td>402082</td><td>Progressive myoclonic epilepsy type 5</td></tr><tr><td>402364</td><td>Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly</td></tr><tr><td>402823</td><td>Hepatitis delta</td></tr><tr><td>403</td><td>Familial hyperaldosteronism type I</td></tr><tr><td>40366</td><td>Acitretin/etretinate embryopathy</td></tr><tr><td>404</td><td>Familial hyperaldosteronism type II</td></tr><tr><td>404437</td><td>Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome</td></tr><tr><td>404440</td><td>Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency</td></tr><tr><td>404443</td><td>Tatton-Brown-Rahman syndrome</td></tr><tr><td>404448</td><td>ADNP syndrome</td></tr><tr><td>404451</td><td>FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome</td></tr><tr><td>404454</td><td>Alacrimia-choreoathetosis-liver dysfunction syndrome</td></tr><tr><td>404463</td><td>Multisystemic smooth muscle dysfunction syndrome</td></tr><tr><td>404466</td><td>Female infertility due to zona pellucida defect</td></tr><tr><td>404473</td><td>Severe intellectual disability-progressive spastic diplegia syndrome</td></tr><tr><td>404476</td><td>Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome</td></tr><tr><td>404493</td><td>Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency</td></tr><tr><td>404499</td><td>Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency</td></tr><tr><td>404507</td><td>Chondromyxoid fibroma</td></tr><tr><td>404511</td><td>Clear cell papillary renal cell carcinoma</td></tr><tr><td>404514</td><td>Acquired cystic disease-associated renal cell carcinoma</td></tr><tr><td>404521</td><td>Spinal muscular atrophy with respiratory distress type 2</td></tr><tr><td>404546</td><td>DITRA</td></tr><tr><td>404553</td><td>Vasculitis due to ADA2 deficiency</td></tr><tr><td>404560</td><td>Familial atypical multiple mole melanoma syndrome</td></tr><tr><td>405</td><td>Familial hypocalciuric hypercalcemia</td></tr><tr><td>407</td><td>Glycine encephalopathy</td></tr><tr><td>408</td><td>Isolated glycerol kinase deficiency</td></tr><tr><td>409</td><td>Hyperkeratosis lenticularis perstans</td></tr><tr><td>40923</td><td>Eales disease</td></tr><tr><td>41</td><td>Dyschromatosis symmetrica hereditaria</td></tr><tr><td>411493</td><td>Pontocerebellar hypoplasia type 10</td></tr><tr><td>411501</td><td>Williams-Campbell syndrome</td></tr><tr><td>411511</td><td>Angelman syndrome due to a point mutation</td></tr><tr><td>411515</td><td>Angelman syndrome due to imprinting defect in 15q11-q13</td></tr><tr><td>411527</td><td>Central retinal vein occlusion</td></tr><tr><td>411536</td><td>Mild phosphoribosylpyrophosphate synthetase superactivity</td></tr><tr><td>411543</td><td>Severe phosphoribosylpyrophosphate synthetase superactivity</td></tr><tr><td>411590</td><td>Wolfram-like syndrome</td></tr><tr><td>411593</td><td>Insulin autoimmune syndrome</td></tr><tr><td>411602</td><td>Hereditary late-onset Parkinson disease</td></tr><tr><td>411629</td><td>Infantile nephropathic cystinosis</td></tr><tr><td>411634</td><td>Juvenile nephropathic cystinosis</td></tr><tr><td>411641</td><td>Ocular cystinosis</td></tr><tr><td>411696</td><td>Proton-pump inhibitor-responsive esophageal eosinophilia</td></tr><tr><td>411703</td><td>Pulmonary non-tuberculous mycobacterial infection</td></tr><tr><td>411709</td><td>Renal agenesis</td></tr><tr><td>411712</td><td>Maternal riboflavin deficiency</td></tr><tr><td>411777</td><td>Generalized eruptive keratoacanthoma</td></tr><tr><td>411788</td><td>Familial isolated trichomegaly</td></tr><tr><td>411986</td><td>Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>412</td><td>Dysbetalipoproteinemia</td></tr><tr><td>412022</td><td>Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome</td></tr><tr><td>412035</td><td>13q12.3 microdeletion syndrome</td></tr><tr><td>412057</td><td>Autosomal recessive cerebellar ataxia due to STUB1 deficiency</td></tr><tr><td>412066</td><td>PRKAR1B-related neurodegenerative dementia with intermediate filaments</td></tr><tr><td>412069</td><td>AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome</td></tr><tr><td>412181</td><td>Epidermolysis bullosa simplex due to BP230 deficiency</td></tr><tr><td>412189</td><td>Epidermolysis bullosa simplex due to exophilin 5 deficiency</td></tr><tr><td>412206</td><td>Primary failure of tooth eruption</td></tr><tr><td>412217</td><td>Dystonia-aphonia syndrome</td></tr><tr><td>414</td><td>Gyrate atrophy of choroid and retina</td></tr><tr><td>415</td><td>Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</td></tr><tr><td>416</td><td>Primary hyperoxaluria</td></tr><tr><td>417</td><td>Neonatal severe primary hyperparathyroidism</td></tr><tr><td>41751</td><td>Bietti crystalline dystrophy</td></tr><tr><td>418945</td><td>Carcinoma of esophagus, salivary gland type</td></tr><tr><td>418951</td><td>Undifferentiated carcinoma of esophagus</td></tr><tr><td>418959</td><td>Squamous cell carcinoma of the stomach</td></tr><tr><td>419</td><td>Hyperprolinemia type 1</td></tr><tr><td>42</td><td>Medium chain acyl-CoA dehydrogenase deficiency</td></tr><tr><td>420179</td><td>Malan overgrowth syndrome</td></tr><tr><td>420259</td><td>Secondary pulmonary alveolar proteinosis</td></tr><tr><td>420402</td><td>Semicircular canal dehiscence syndrome</td></tr><tr><td>420429</td><td>Glycogen storage disease due to acid maltase deficiency, late-onset</td></tr><tr><td>420485</td><td>Cranio-cervical dystonia with laryngeal and upper-limb involvement</td></tr><tr><td>420492</td><td>Adult-onset cervical dystonia, DYT23 type</td></tr><tr><td>420556</td><td>Visual snow syndrome</td></tr><tr><td>420561</td><td>Temple-Baraitser syndrome</td></tr><tr><td>420566</td><td>Bleeding disorder due to CalDAG-GEFI deficiency</td></tr><tr><td>420573</td><td>Severe combined immunodeficiency due to CTPS1 deficiency</td></tr><tr><td>420584</td><td>Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome</td></tr><tr><td>420611</td><td>Transient myeloproliferative syndrome</td></tr><tr><td>42062</td><td>Iminoglycinuria</td></tr><tr><td>420686</td><td>Woolly hair-palmoplantar keratoderma syndrome</td></tr><tr><td>420699</td><td>Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency</td></tr><tr><td>420702</td><td>Autosomal recessive severe congenital neutropenia due to CSF3R deficiency</td></tr><tr><td>420728</td><td>Combined oxidative phosphorylation defect type 20</td></tr><tr><td>420733</td><td>Combined oxidative phosphorylation defect type 21</td></tr><tr><td>420741</td><td>RIDDLE syndrome</td></tr><tr><td>420789</td><td>Autoimmune encephalopathy with parasomnia and obstructive sleep apnea</td></tr><tr><td>420794</td><td>Cono-spondylar dysplasia</td></tr><tr><td>422</td><td>Idiopathic/heritable pulmonary arterial hypertension</td></tr><tr><td>422526</td><td>Hereditary clear cell renal cell carcinoma</td></tr><tr><td>423</td><td>Malignant hyperthermia of anesthesia</td></tr><tr><td>423275</td><td>Spinocerebellar ataxia type 40</td></tr><tr><td>423296</td><td>Spinocerebellar ataxia type 38</td></tr><tr><td>423306</td><td>Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>423384</td><td>Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency</td></tr><tr><td>423454</td><td>Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</td></tr><tr><td>423461</td><td>Mucolipidosis type III alpha/beta</td></tr><tr><td>423470</td><td>Mucolipidosis type III gamma</td></tr><tr><td>423479</td><td>X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome</td></tr><tr><td>423693</td><td>Double outlet right ventricle with subaortic or doubly committed ventricular septal defect</td></tr><tr><td>423712</td><td>Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy</td></tr><tr><td>423717</td><td>Cutaneous larva migrans</td></tr><tr><td>423786</td><td>Undifferentiated carcinoma of stomach</td></tr><tr><td>423894</td><td>Microcephaly-complex motor and sensory axonal neuropathy syndrome</td></tr><tr><td>423968</td><td>Squamous cell carcinoma of the small intestine</td></tr><tr><td>423994</td><td>Squamous cell carcinoma of the colon</td></tr><tr><td>424</td><td>Familial hyperthyroidism due to mutations in TSH receptor</td></tr><tr><td>424002</td><td>Squamous cell carcinoma of the rectum</td></tr><tr><td>424016</td><td>Adenocarcinoma of the anal canal</td></tr><tr><td>424019</td><td>Squamous cell carcinoma of the anal canal</td></tr><tr><td>424027</td><td>Progressive myoclonic epilepsy type 8</td></tr><tr><td>424039</td><td>Squamous cell carcinoma of pancreas</td></tr><tr><td>424046</td><td>Acinar cell carcinoma of pancreas</td></tr><tr><td>424053</td><td>Mucinous cystadenocarcinoma of the pancreas</td></tr><tr><td>424058</td><td>Intraductal papillary mucinous carcinoma of pancreas</td></tr><tr><td>424065</td><td>Solid pseudopapillary carcinoma of pancreas</td></tr><tr><td>424073</td><td>Serous cystadenocarcinoma of pancreas</td></tr><tr><td>424080</td><td>Undifferentiated carcinoma with osteoclast-like giant cells of pancreas</td></tr><tr><td>424099</td><td>Colobomatous microphthalmia-rhizomelic dysplasia syndrome</td></tr><tr><td>424107</td><td>Congenital myopathy with myasthenic-like onset</td></tr><tr><td>424261</td><td>TOR1AIP1-related limb-girdle muscular dystrophy</td></tr><tr><td>424943</td><td>Adenocarcinoma of the liver and intrahepatic biliary tract</td></tr><tr><td>424970</td><td>Undifferentiated carcinoma of liver and intrahepatic biliary tract</td></tr><tr><td>424975</td><td>Squamous cell carcinoma of liver and intrahepatic biliary tract</td></tr><tr><td>424982</td><td>Biliary cystadenocarcinoma</td></tr><tr><td>424991</td><td>Adenocarcinoma of the gallbladder and extrahepatic biliary tract</td></tr><tr><td>424996</td><td>Squamous cell carcinoma of gallbladder and extrahepatic biliary tract</td></tr><tr><td>425</td><td>Apolipoprotein A-I deficiency</td></tr><tr><td>425120</td><td>STING-associated vasculopathy with onset in infancy</td></tr><tr><td>42642</td><td>PFAPA syndrome</td></tr><tr><td>42665</td><td>Tietz syndrome</td></tr><tr><td>427</td><td>Familial hypoaldosteronism</td></tr><tr><td>42775</td><td>PHACE syndrome</td></tr><tr><td>428</td><td>Autosomal dominant hypocalcemia</td></tr><tr><td>429</td><td>Hypochondroplasia</td></tr><tr><td>43</td><td>X-linked adrenoleukodystrophy</td></tr><tr><td>431140</td><td>X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome</td></tr><tr><td>431149</td><td>Combined immunodeficiency due to OX40 deficiency</td></tr><tr><td>43115</td><td>Hereditary myopathy with lactic acidosis due to ISCU deficiency</td></tr><tr><td>43116</td><td>Serotonin syndrome</td></tr><tr><td>431166</td><td>Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection</td></tr><tr><td>43117</td><td>Acute tricyclic antidepressant poisoning</td></tr><tr><td>43119</td><td>Acute poisoning by drugs with membrane-stabilizing effect</td></tr><tr><td>431255</td><td>Scapuloperoneal spinal muscular atrophy</td></tr><tr><td>431272</td><td>X-linked scapuloperoneal muscular dystrophy</td></tr><tr><td>431329</td><td>Autosomal recessive spastic paraplegia type 57</td></tr><tr><td>431341</td><td>Patent urachus</td></tr><tr><td>431344</td><td>Urachal sinus</td></tr><tr><td>431347</td><td>Urachal diverticulum</td></tr><tr><td>431361</td><td>Progressive encephalopathy with leukodystrophy due to DECR deficiency</td></tr><tr><td>432</td><td>Normosmic congenital hypogonadotropic hypogonadism</td></tr><tr><td>43393</td><td>Lambert-Eaton myasthenic syndrome</td></tr><tr><td>434179</td><td>Orofaciodigital syndrome type 14</td></tr><tr><td>435329</td><td>Familial ossifying fibroma</td></tr><tr><td>435372</td><td>Anterior urethral valve</td></tr><tr><td>435387</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2Y</td></tr><tr><td>435438</td><td>Progressive myoclonic epilepsy type 7</td></tr><tr><td>435628</td><td>Keppen-Lubinsky syndrome</td></tr><tr><td>435638</td><td>3p25.3 microdeletion syndrome</td></tr><tr><td>435651</td><td>CIDEC-related familial partial lipodystrophy</td></tr><tr><td>435660</td><td>LIPE-related familial partial lipodystrophy</td></tr><tr><td>435804</td><td>Short stature-advanced bone age-early-onset osteoarthritis syndrome</td></tr><tr><td>435819</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation</td></tr><tr><td>435845</td><td>Lethal neonatal spasticity-epileptic encephalopathy syndrome</td></tr><tr><td>435930</td><td>Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</td></tr><tr><td>435934</td><td>COG2-CDG</td></tr><tr><td>435938</td><td>X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome</td></tr><tr><td>435953</td><td>Progeroid features-hepatocellular carcinoma predisposition syndrome</td></tr><tr><td>435988</td><td>Chronic atrial and intestinal dysrhythmia syndrome</td></tr><tr><td>435998</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type D</td></tr><tr><td>436</td><td>Hypophosphatasia</td></tr><tr><td>436003</td><td>Contractures-developmental delay-Pierre Robin syndrome</td></tr><tr><td>436141</td><td>Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome</td></tr><tr><td>436144</td><td>Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome</td></tr><tr><td>436151</td><td>Intellectual disability-expressive aphasia-facial dysmorphism syndrome</td></tr><tr><td>436159</td><td>Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency</td></tr><tr><td>436166</td><td>Periodic fever-infantile enterocolitis-autoinflammatory syndrome</td></tr><tr><td>436169</td><td>Thrombomodulin-related bleeding disorder</td></tr><tr><td>436174</td><td>Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</td></tr><tr><td>436182</td><td>Microcephalic primordial dwarfism-insulin resistance syndrome</td></tr><tr><td>436242</td><td>Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease</td></tr><tr><td>436245</td><td>Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</td></tr><tr><td>436252</td><td>Combined immunodeficiency-enteropathy spectrum</td></tr><tr><td>436271</td><td>Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy</td></tr><tr><td>436274</td><td>Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa</td></tr><tr><td>437552</td><td>Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity</td></tr><tr><td>438075</td><td>Ketoacidosis due to monocarboxylate transporter-1 deficiency</td></tr><tr><td>438114</td><td>RARS-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>438117</td><td>Steel syndrome</td></tr><tr><td>438134</td><td>PCNA-related progressive neurodegenerative photosensitivity syndrome</td></tr><tr><td>438159</td><td>STAT3-related early-onset multisystem autoimmune disease</td></tr><tr><td>438178</td><td>Fatty acyl-CoA reductase 1 deficiency</td></tr><tr><td>438207</td><td>Severe autosomal recessive macrothrombocytopenia</td></tr><tr><td>438213</td><td>PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome</td></tr><tr><td>438216</td><td>PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation</td></tr><tr><td>438266</td><td>Progressive encephalomyelitis with rigidity and myoclonus</td></tr><tr><td>438274</td><td>GCGR-related hyperglucagonemia</td></tr><tr><td>438279</td><td>Human infection by orthopoxvirus</td></tr><tr><td>439</td><td>Isolated right ventricular hypoplasia</td></tr><tr><td>439167</td><td>Placental insufficiency</td></tr><tr><td>439175</td><td>Pediatric arterial ischemic stroke</td></tr><tr><td>439196</td><td>Zinc-responsive necrolytic acral erythema</td></tr><tr><td>439202</td><td>Non-recovering obstetric brachial plexus lesion</td></tr><tr><td>439212</td><td>Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome</td></tr><tr><td>439218</td><td>KCNQ2-related epileptic encephalopathy</td></tr><tr><td>439224</td><td>ALECT2 amyloidosis</td></tr><tr><td>439232</td><td>AApoAIV amyloidosis</td></tr><tr><td>439254</td><td>ITM2B amyloidosis</td></tr><tr><td>439729</td><td>Cutaneous polyarteritis nodosa</td></tr><tr><td>439737</td><td>Primary polyarteritis nodosa</td></tr><tr><td>439746</td><td>Secondary polyarteritis nodosa</td></tr><tr><td>439755</td><td>Single-organ polyarteritis nodosa</td></tr><tr><td>439762</td><td>Systemic polyarteritis nodosa</td></tr><tr><td>439822</td><td>PDE4D haploinsufficiency syndrome</td></tr><tr><td>439854</td><td>Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease</td></tr><tr><td>439881</td><td>Plastic bronchitis</td></tr><tr><td>439897</td><td>Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</td></tr><tr><td>44</td><td>Neonatal adrenoleukodystrophy</td></tr><tr><td>440221</td><td>Congenital oculomotor nerve palsy</td></tr><tr><td>440233</td><td>Congenital abducens nerve palsy</td></tr><tr><td>440354</td><td>Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome</td></tr><tr><td>440368</td><td>Necrotizing soft tissue infection</td></tr><tr><td>440392</td><td>Interstitial lung disease due to SP-C deficiency</td></tr><tr><td>440402</td><td>Interstitial lung disease due to ABCA3 deficiency</td></tr><tr><td>440427</td><td>Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency</td></tr><tr><td>440437</td><td>Familial colorectal cancer Type X</td></tr><tr><td>440706</td><td>Ribose-5-P isomerase deficiency</td></tr><tr><td>440713</td><td>Isolated sedoheptulokinase deficiency</td></tr><tr><td>440724</td><td>Extensive peripapillary myelinated nerve fibers</td></tr><tr><td>440727</td><td>Combined hamartoma of the retina and retinal pigment epithelium</td></tr><tr><td>440731</td><td>L-ferritin deficiency</td></tr><tr><td>440987</td><td>Isolated agenesis of gallbladder</td></tr><tr><td>441</td><td>Pure autonomic failure</td></tr><tr><td>441447</td><td>Early-onset posterior subcapsular cataract</td></tr><tr><td>441452</td><td>Early-onset lamellar cataract</td></tr><tr><td>442582</td><td>AH amyloidosis</td></tr><tr><td>442835</td><td>Non-specific early-onset epileptic encephalopathy</td></tr><tr><td>443057</td><td>Sporadic porphyria cutanea tarda</td></tr><tr><td>443062</td><td>Familial porphyria cutanea tarda</td></tr><tr><td>443070</td><td>Hemicrania continua</td></tr><tr><td>443073</td><td>Charcot-Marie-Tooth disease type 2S</td></tr><tr><td>443079</td><td>Central serous chorioretinopathy</td></tr><tr><td>443084</td><td>Baroreflex failure</td></tr><tr><td>443087</td><td>46,XY difference of sex development due to testicular 17,20-desmolase deficiency</td></tr><tr><td>443098</td><td>Hyperostosis cranialis interna</td></tr><tr><td>443101</td><td>Hypothalamic adipsic hypernatraemia syndrome</td></tr><tr><td>443159</td><td>Lymphoplasmacytic lymphoma without IgM production</td></tr><tr><td>443162</td><td>NDE1-related microhydranencephaly</td></tr><tr><td>443167</td><td>NUT midline carcinoma</td></tr><tr><td>443173</td><td>Postpartum psychosis</td></tr><tr><td>443180</td><td>Spontaneous intracranial hypotension</td></tr><tr><td>443192</td><td>Classic stiff person syndrome</td></tr><tr><td>443197</td><td>X-linked erythropoietic protoporphyria</td></tr><tr><td>443227</td><td>Paratyphoid fever</td></tr><tr><td>443236</td><td>Postural orthostatic tachycardia syndrome due to NET deficiency</td></tr><tr><td>443291</td><td>HIV-associated cancer</td></tr><tr><td>443804</td><td>Focal stiff limb syndrome</td></tr><tr><td>443811</td><td>PGM3-CDG</td></tr><tr><td>443950</td><td>DNAJB2-related Charcot-Marie-Tooth disease type 2</td></tr><tr><td>443988</td><td>Ventriculomegaly-cystic kidney disease</td></tr><tr><td>443995</td><td>Mandibulofacial dysostosis with alopecia</td></tr><tr><td>444</td><td>Marie Unna hereditary hypotrichosis</td></tr><tr><td>444002</td><td>11q22.2q22.3 microdeletion syndrome</td></tr><tr><td>444013</td><td>Combined oxidative phosphorylation defect type 23</td></tr><tr><td>444048</td><td>46,XX ovarian dysgenesis-short stature syndrome</td></tr><tr><td>444051</td><td>20q11.2 microdeletion syndrome</td></tr><tr><td>444069</td><td>Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome</td></tr><tr><td>444072</td><td>Cerebellar-facial-dental syndrome</td></tr><tr><td>444077</td><td>Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome</td></tr><tr><td>444092</td><td>Autoimmune interstitial lung disease-arthritis syndrome</td></tr><tr><td>444099</td><td>Autosomal dominant spastic paraplegia type 73</td></tr><tr><td>444138</td><td>Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome</td></tr><tr><td>444316</td><td>Idiopathic phalangeal acro-osteolysis</td></tr><tr><td>444458</td><td>Combined oxidative phosphorylation defect type 24</td></tr><tr><td>444463</td><td>Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome</td></tr><tr><td>444490</td><td>Familial chylomicronemia syndrome</td></tr><tr><td>445018</td><td>Combined immunodeficiency due to LRBA deficiency</td></tr><tr><td>445038</td><td>3-methylglutaconic aciduria type 7</td></tr><tr><td>445062</td><td>Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</td></tr><tr><td>445110</td><td>Limb-girdle muscular dystrophy due to POMK deficiency</td></tr><tr><td>446</td><td>Neonatal hemochromatosis</td></tr><tr><td>447</td><td>Paroxysmal nocturnal hemoglobinuria</td></tr><tr><td>447731</td><td>NIK deficiency</td></tr><tr><td>447737</td><td>DOCK2 deficiency</td></tr><tr><td>447740</td><td>Susceptibility to localized juvenile periodontitis</td></tr><tr><td>447753</td><td>Autosomal dominant spastic paraplegia type 9A</td></tr><tr><td>447757</td><td>Autosomal dominant spastic paraplegia type 9B</td></tr><tr><td>447760</td><td>Autosomal recessive spastic paraplegia type 9B</td></tr><tr><td>447764</td><td>IgG4-related sclerosing cholangitis</td></tr><tr><td>447774</td><td>Secondary sclerosing cholangitis</td></tr><tr><td>447777</td><td>Keratocystic odontogenic tumor</td></tr><tr><td>447784</td><td>Mitochondrial pyruvate carrier deficiency</td></tr><tr><td>447788</td><td>Cerebral visual impairment</td></tr><tr><td>447795</td><td>Lipoyl transferase 2 deficiency</td></tr><tr><td>447877</td><td>Polymerase proofreading-related adenomatous polyposis</td></tr><tr><td>447881</td><td>Idiopathic dropped head syndrome</td></tr><tr><td>447893</td><td>Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</td></tr><tr><td>447896</td><td>Tremor-ataxia-central hypomyelination syndrome</td></tr><tr><td>447954</td><td>Combined oxidative phosphorylation defect type 25</td></tr><tr><td>447961</td><td>Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</td></tr><tr><td>447964</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2V</td></tr><tr><td>447974</td><td>Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</td></tr><tr><td>447977</td><td>Progressive scapulohumeroperoneal distal myopathy</td></tr><tr><td>447980</td><td>19p13.3 microduplication syndrome</td></tr><tr><td>447997</td><td>Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome</td></tr><tr><td>448010</td><td>CAD-CDG</td></tr><tr><td>448237</td><td>Zika virus disease</td></tr><tr><td>448242</td><td>Autosomal recessive brachyolmia</td></tr><tr><td>448251</td><td>Progressive autosomal recessive ataxia-deafness syndrome</td></tr><tr><td>448264</td><td>Isolated focal non-epidermolytic palmoplantar keratoderma</td></tr><tr><td>448267</td><td>Regressive spondylometaphyseal dysplasia</td></tr><tr><td>448270</td><td>Ectopia cordis</td></tr><tr><td>44890</td><td>Gastrointestinal stromal tumor</td></tr><tr><td>449</td><td>Hepatoblastoma</td></tr><tr><td>449266</td><td>Pleural empyema</td></tr><tr><td>449280</td><td>Scedosporiosis</td></tr><tr><td>449285</td><td>Snakebite envenomation</td></tr><tr><td>449291</td><td>Symptomatic form of fragile X syndrome in female carriers</td></tr><tr><td>449395</td><td>IgG4-related kidney disease</td></tr><tr><td>449400</td><td>IgG4-related aortitis</td></tr><tr><td>449427</td><td>IgG4-related pachymeningitis</td></tr><tr><td>449432</td><td>IgG4-related submandibular gland disease</td></tr><tr><td>449563</td><td>IgG4-related ophthalmic disease</td></tr><tr><td>449566</td><td>Eosinophilic angiocentric fibrosis</td></tr><tr><td>45</td><td>Adenosine monophosphate deaminase deficiency</td></tr><tr><td>450322</td><td>Polyclonal hyperviscosity syndrome</td></tr><tr><td>451602</td><td>Primary cutaneous plasmacytosis</td></tr><tr><td>451607</td><td>Cutaneous pseudolymphoma</td></tr><tr><td>451612</td><td>Familial congenital nasolacrimal duct obstruction</td></tr><tr><td>452</td><td>X-linked lissencephaly with abnormal genitalia</td></tr><tr><td>453499</td><td>Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome</td></tr><tr><td>453504</td><td>Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation</td></tr><tr><td>453510</td><td>Congenital insensitivity to pain with severe intellectual disability</td></tr><tr><td>453521</td><td>Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency</td></tr><tr><td>453533</td><td>Polyendocrine-polyneuropathy syndrome</td></tr><tr><td>45358</td><td>Congenital fibrosis of extraocular muscles</td></tr><tr><td>454</td><td>Acquired ichthyosis</td></tr><tr><td>45448</td><td>Miyoshi myopathy</td></tr><tr><td>45452</td><td>Idiopathic neonatal atrial flutter</td></tr><tr><td>45453</td><td>Incessant infant ventricular tachycardia</td></tr><tr><td>454706</td><td>Progressive muscular atrophy</td></tr><tr><td>454710</td><td>Anti-p200 pemphigoid</td></tr><tr><td>454714</td><td>Plasma cell leukemia</td></tr><tr><td>454718</td><td>Holmes-Adie syndrome</td></tr><tr><td>454723</td><td>Endometrioid carcinoma of ovary</td></tr><tr><td>454742</td><td>Variably protease-sensitive prionopathy</td></tr><tr><td>454745</td><td>Kuru</td></tr><tr><td>454750</td><td>Isolated tracheoesophageal fistula</td></tr><tr><td>454821</td><td>Pleomorphic salivary gland adenoma</td></tr><tr><td>454831</td><td>Acute radiation syndrome</td></tr><tr><td>454836</td><td>Avian influenza</td></tr><tr><td>454840</td><td>NTHL1-related attenuated familial adenomatous polyposis</td></tr><tr><td>454887</td><td>Corticobasal syndrome</td></tr><tr><td>455</td><td>Superficial epidermolytic ichthyosis</td></tr><tr><td>456298</td><td>1p35.2 microdeletion syndrome</td></tr><tr><td>456312</td><td>Infantile multisystem neurologic-endocrine-pancreatic disease</td></tr><tr><td>456318</td><td>Hereditary sensory neuropathy-deafness-dementia syndrome</td></tr><tr><td>456328</td><td>X-linked myotubular myopathy-abnormal genitalia syndrome</td></tr><tr><td>456333</td><td>Hereditary neuroendocrine tumor of small intestine</td></tr><tr><td>456369</td><td>Polyglucosan body myopathy type 2</td></tr><tr><td>457</td><td>Harlequin ichthyosis</td></tr><tr><td>457050</td><td>Autosomal dominant mitochondrial myopathy with exercise intolerance</td></tr><tr><td>457077</td><td>TAFRO syndrome</td></tr><tr><td>457083</td><td>Isolated splenogonadal fusion</td></tr><tr><td>457088</td><td>Predisposition to invasive fungal disease due to CARD9 deficiency</td></tr><tr><td>457095</td><td>Actinomycosis</td></tr><tr><td>457185</td><td>Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome</td></tr><tr><td>457193</td><td>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</td></tr><tr><td>457205</td><td>Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome</td></tr><tr><td>457212</td><td>Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome</td></tr><tr><td>457223</td><td>Syndromic sensorineural deafness due to combined oxidative phosphorylation defect</td></tr><tr><td>457240</td><td>X-linked intellectual disability-short stature-overweight syndrome</td></tr><tr><td>457246</td><td>Clear cell sarcoma of kidney</td></tr><tr><td>457260</td><td>X-linked intellectual disability-hypotonia-movement disorder syndrome</td></tr><tr><td>457265</td><td>Progressive myoclonic epilepsy type 9</td></tr><tr><td>457279</td><td>Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome</td></tr><tr><td>457284</td><td>Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>457351</td><td>Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome</td></tr><tr><td>457359</td><td>Megalencephaly-severe kyphoscoliosis-overgrowth syndrome</td></tr><tr><td>457365</td><td>Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome</td></tr><tr><td>457375</td><td>ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement</td></tr><tr><td>457378</td><td>Complex lethal osteochondrodysplasia</td></tr><tr><td>457395</td><td>Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome</td></tr><tr><td>457406</td><td>Multiple mitochondrial dysfunctions syndrome type 4</td></tr><tr><td>457485</td><td>Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</td></tr><tr><td>458718</td><td>Idiopathic spontaneous coronary artery dissection</td></tr><tr><td>458758</td><td>Composite hemangioendothelioma</td></tr><tr><td>458763</td><td>Retiform hemangioendothelioma</td></tr><tr><td>458768</td><td>Primary intralymphatic angioendothelioma</td></tr><tr><td>458785</td><td>Partially involuting congenital hemangioma</td></tr><tr><td>458792</td><td>Mixed cystic lymphatic malformation</td></tr><tr><td>458798</td><td>Spinocerebellar ataxia type 41</td></tr><tr><td>458803</td><td>Spinocerebellar ataxia type 42</td></tr><tr><td>459033</td><td>Ataxia-oculomotor apraxia type 4</td></tr><tr><td>459051</td><td>Spondyloepiphyseal dysplasia, Stanescu type</td></tr><tr><td>459056</td><td>Autosomal recessive spastic paraplegia type 75</td></tr><tr><td>459061</td><td>Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome</td></tr><tr><td>459070</td><td>X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome</td></tr><tr><td>459074</td><td>Corpus callosum agenesis-macrocephaly-hypertelorism syndrome</td></tr><tr><td>46</td><td>Adenylosuccinate lyase deficiency</td></tr><tr><td>46059</td><td>Lathosterolosis</td></tr><tr><td>461</td><td>Recessive X-linked ichthyosis</td></tr><tr><td>46135</td><td>Primary central nervous system lymphoma</td></tr><tr><td>46348</td><td>Paroxysmal extreme pain disorder</td></tr><tr><td>464</td><td>Incontinentia pigmenti</td></tr><tr><td>464282</td><td>Spastic paraplegia-severe developmental delay-epilepsy syndrome</td></tr><tr><td>464288</td><td>Short stature-brachydactyly-obesity-global developmental delay syndrome</td></tr><tr><td>464306</td><td>DYRK1A-related intellectual disability syndrome</td></tr><tr><td>464311</td><td>Intellectual disability syndrome due to a DYRK1A point mutation</td></tr><tr><td>464318</td><td>Verrucous hemangioma</td></tr><tr><td>464321</td><td>Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome</td></tr><tr><td>464329</td><td>Kaposiform lymphangiomatosis</td></tr><tr><td>464336</td><td>BENTA disease</td></tr><tr><td>464343</td><td>Catastrophic antiphospholipid syndrome</td></tr><tr><td>464359</td><td>Benign metanephric tumor</td></tr><tr><td>464366</td><td>NEK9-related lethal skeletal dysplasia</td></tr><tr><td>464370</td><td>Neonatal alloimmune neutropenia</td></tr><tr><td>464440</td><td>Primary dystonia, DYT27 type</td></tr><tr><td>464443</td><td>COG6-CGD</td></tr><tr><td>464453</td><td>Acquired methemoglobinemia</td></tr><tr><td>464458</td><td>Paracetamol poisoning</td></tr><tr><td>464724</td><td>Fever-associated acute infantile liver failure syndrome</td></tr><tr><td>464738</td><td>Basel-Vanagaite-Smirin-Yosef syndrome</td></tr><tr><td>464756</td><td>Familial gastric type 1 neuroendocrine tumor</td></tr><tr><td>464760</td><td>Familial cavitary optic disc anomaly</td></tr><tr><td>46486</td><td>Mucous membrane pemphigoid</td></tr><tr><td>46487</td><td>Epidermolysis bullosa acquisita</td></tr><tr><td>46488</td><td>Linear IgA dermatosis</td></tr><tr><td>465</td><td>Congenital plasminogen activator inhibitor type 1 deficiency</td></tr><tr><td>46532</td><td>Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome</td></tr><tr><td>465508</td><td>Symptomatic form of HFE-related hemochromatosis</td></tr><tr><td>465824</td><td>Fetal encasement syndrome</td></tr><tr><td>466</td><td>Fatal familial insomnia</td></tr><tr><td>466026</td><td>Class I glucose-6-phosphate dehydrogenase deficiency</td></tr><tr><td>46627</td><td>Char syndrome</td></tr><tr><td>466650</td><td>Exercise-induced malignant hyperthermia</td></tr><tr><td>466670</td><td>Cyanide poisoning</td></tr><tr><td>466677</td><td>Scorpion envenomation</td></tr><tr><td>466682</td><td>Euthyroid Graves orbitopathy</td></tr><tr><td>466688</td><td>Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome</td></tr><tr><td>466695</td><td>Supratip dysplasia</td></tr><tr><td>466703</td><td>TMEM199-CDG</td></tr><tr><td>466718</td><td>Martinique crinkled retinal pigment epitheliopathy</td></tr><tr><td>466722</td><td>Autosomal recessive spastic paraplegia type 77</td></tr><tr><td>466729</td><td>Familial patent arterial duct</td></tr><tr><td>466768</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2Z</td></tr><tr><td>466775</td><td>Autosomal recessive Charcot-Marie-Tooth disease type 2X</td></tr><tr><td>466784</td><td>Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect</td></tr><tr><td>466791</td><td>Macrocephaly-intellectual disability-left ventricular non compaction syndrome</td></tr><tr><td>466794</td><td>Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome</td></tr><tr><td>466806</td><td>Autosomal dominant thrombocytopenia with platelet secretion defect</td></tr><tr><td>466921</td><td>Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome</td></tr><tr><td>466926</td><td>Seizures-scoliosis-macrocephaly syndrome</td></tr><tr><td>466934</td><td>VPS11-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>466943</td><td>WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome</td></tr><tr><td>466950</td><td>Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation</td></tr><tr><td>466962</td><td>SMARCA4-deficient sarcoma of thorax</td></tr><tr><td>467166</td><td>Tubulinopathy-associated dysgyria</td></tr><tr><td>467176</td><td>Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome</td></tr><tr><td>46724</td><td>Cerebral arteriovenous malformation</td></tr><tr><td>468620</td><td>Intellectual disability-epilepsy-extrapyramidal syndrome</td></tr><tr><td>468631</td><td>Microcephalic cortical malformations-short stature due to RTTN deficiency</td></tr><tr><td>468635</td><td>Cryptogenic multifocal ulcerous stenosing enteritis</td></tr><tr><td>468641</td><td>Chronic enteropathy associated with SLCO2A1 gene</td></tr><tr><td>468661</td><td>Autosomal recessive spastic paraplegia type 74</td></tr><tr><td>468666</td><td>Isolated generalized anhidrosis with normal sweat glands</td></tr><tr><td>468672</td><td>Colobomatous macrophthalmia-microcornea syndrome</td></tr><tr><td>468678</td><td>White-Sutton syndrome</td></tr><tr><td>468684</td><td>CCDC115-CDG</td></tr><tr><td>468699</td><td>SLC39A8-CDG</td></tr><tr><td>468717</td><td>Rhizomelic chondrodysplasia punctata type 5</td></tr><tr><td>468726</td><td>Severe primary trimethylaminuria</td></tr><tr><td>469</td><td>Hereditary fructose intolerance</td></tr><tr><td>47</td><td>X-linked agammaglobulinemia</td></tr><tr><td>470</td><td>Lysinuric protein intolerance</td></tr><tr><td>47044</td><td>Hereditary papillary renal cell carcinoma</td></tr><tr><td>47045</td><td>Familial cold urticaria</td></tr><tr><td>47159</td><td>Proximal renal tubular acidosis</td></tr><tr><td>472</td><td>Isosporiasis</td></tr><tr><td>474</td><td>Jeune syndrome</td></tr><tr><td>475</td><td>Joubert syndrome</td></tr><tr><td>476084</td><td>BVES-related limb-girdle muscular dystrophy</td></tr><tr><td>476093</td><td>Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome</td></tr><tr><td>476096</td><td>Erythrokeratodermia-cardiomyopathy syndrome</td></tr><tr><td>476102</td><td>Hereditary pediatric Behçet-like disease</td></tr><tr><td>476113</td><td>Combined immunodeficiency due to TFRC deficiency</td></tr><tr><td>476119</td><td>Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome</td></tr><tr><td>47612</td><td>Felty syndrome</td></tr><tr><td>476126</td><td>Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</td></tr><tr><td>476394</td><td>PMP2-related Charcot-Marie-Tooth disease type 1</td></tr><tr><td>476406</td><td>Congenital generalized hypercontractile muscle stiffness syndrome</td></tr><tr><td>477</td><td>KID syndrome</td></tr><tr><td>477650</td><td>Fibroblastic rheumatism</td></tr><tr><td>477661</td><td>IL21-related infantile inflammatory bowel disease</td></tr><tr><td>477673</td><td>Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome</td></tr><tr><td>477684</td><td>Combined oxidative phosphorylation defect type 26</td></tr><tr><td>477738</td><td>Pediatric multiple sclerosis</td></tr><tr><td>477742</td><td>Nodular fasciitis</td></tr><tr><td>477749</td><td>Pontine autosomal dominant microangiopathy with leukoencephalopathy</td></tr><tr><td>477774</td><td>Combined oxidative phosphorylation defect type 27</td></tr><tr><td>477781</td><td>Primary condylar hyperplasia</td></tr><tr><td>477787</td><td>Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder</td></tr><tr><td>477814</td><td>Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome</td></tr><tr><td>477817</td><td>PMP22-RAI1 contiguous gene duplication syndrome</td></tr><tr><td>477831</td><td>Kosaki overgrowth syndrome</td></tr><tr><td>477857</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency</td></tr><tr><td>477993</td><td>Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</td></tr><tr><td>478</td><td>Kallmann syndrome</td></tr><tr><td>478029</td><td>Combined oxidative phosphorylation defect type 29</td></tr><tr><td>478042</td><td>Combined oxidative phosphorylation defect type 30</td></tr><tr><td>478049</td><td>Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome</td></tr><tr><td>478664</td><td>Hereditary sensory and autonomic neuropathy type 8</td></tr><tr><td>48</td><td>Congenital bilateral absence of vas deferens</td></tr><tr><td>480</td><td>Kearns-Sayre syndrome</td></tr><tr><td>480476</td><td>Progressive familial intrahepatic cholestasis type 5</td></tr><tr><td>480483</td><td>Progressive familial intrahepatic cholestasis type 4</td></tr><tr><td>480491</td><td>MYO5B-related progressive familial intrahepatic cholestasis</td></tr><tr><td>480501</td><td>Choledochal cyst</td></tr><tr><td>480506</td><td>Primary intrahepatic lithiasis</td></tr><tr><td>480512</td><td>Idiopathic ductopenia</td></tr><tr><td>480520</td><td>Caroli syndrome</td></tr><tr><td>480524</td><td>Idiopathic peliosis hepatis</td></tr><tr><td>480528</td><td>Lethal hydranencephaly-diaphragmatic hernia syndrome</td></tr><tr><td>480531</td><td>Congenital portosystemic shunt</td></tr><tr><td>480536</td><td>MSH3-related attenuated familial adenomatous polyposis</td></tr><tr><td>480541</td><td>High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement</td></tr><tr><td>480553</td><td>Aneurysmal bone cyst</td></tr><tr><td>480556</td><td>Isolated neonatal sclerosing cholangitis</td></tr><tr><td>480682</td><td>POGLUT1-related limb-girdle muscular dystrophy R21</td></tr><tr><td>480701</td><td>Facial diplegia with paresthesias</td></tr><tr><td>480851</td><td>Hereditary thrombocytopenia with early-onset myelofibrosis</td></tr><tr><td>480864</td><td>Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome</td></tr><tr><td>480880</td><td>X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability</td></tr><tr><td>480898</td><td>Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome</td></tr><tr><td>480907</td><td>X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome</td></tr><tr><td>481</td><td>Kennedy disease</td></tr><tr><td>48104</td><td>Pyoderma gangrenosum</td></tr><tr><td>481152</td><td>PYCR2-related microcephaly-progressive leukoencephalopathy</td></tr><tr><td>48162</td><td>Lewis-Sumner syndrome</td></tr><tr><td>481662</td><td>Familial Chilblain lupus</td></tr><tr><td>481665</td><td>USP18 deficiency</td></tr><tr><td>481986</td><td>Familial schizencephaly</td></tr><tr><td>482</td><td>Kimura disease</td></tr><tr><td>482077</td><td>HTRA1-related autosomal dominant cerebral small vessel disease</td></tr><tr><td>482601</td><td>Adenylosuccinate synthetase-like 1-related distal myopathy</td></tr><tr><td>482606</td><td>X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome</td></tr><tr><td>483</td><td>Congenital high-molecular-weight kininogen deficiency</td></tr><tr><td>48372</td><td>Nodular regenerative hyperplasia of the liver</td></tr><tr><td>48377</td><td>Subcorneal pustular dermatosis</td></tr><tr><td>48431</td><td>Congenital cataracts-facial dysmorphism-neuropathy syndrome</td></tr><tr><td>48435</td><td>Postinfectious vasculitis</td></tr><tr><td>485</td><td>Kniest dysplasia</td></tr><tr><td>485275</td><td>Acquired schizencephaly</td></tr><tr><td>485350</td><td>CLCN4-related X-linked intellectual disability syndrome</td></tr><tr><td>485358</td><td>Propylthiouracil embryofetopathy</td></tr><tr><td>485405</td><td>16p12.1p12.3 triplication syndrome</td></tr><tr><td>485418</td><td>EMILIN-1-related connective tissue disease</td></tr><tr><td>485421</td><td>MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect</td></tr><tr><td>485426</td><td>Isolated congenital hepatic fibrosis</td></tr><tr><td>486</td><td>Autosomal dominant severe congenital neutropenia</td></tr><tr><td>48652</td><td>Monosomy 22q13.3</td></tr><tr><td>486811</td><td>Prenatal-onset spinal muscular atrophy with congenital bone fractures</td></tr><tr><td>486815</td><td>Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</td></tr><tr><td>48686</td><td>Primary effusion lymphoma</td></tr><tr><td>487</td><td>Krabbe disease</td></tr><tr><td>48736</td><td>Embryonal carcinoma of the central nervous system</td></tr><tr><td>487796</td><td>Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</td></tr><tr><td>487809</td><td>Pediatric collagenous gastritis</td></tr><tr><td>487814</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation</td></tr><tr><td>487825</td><td>Pierpont syndrome</td></tr><tr><td>488</td><td>Urachal cyst</td></tr><tr><td>488168</td><td>Microcephaly-congenital cataract-psoriasiform dermatitis syndrome</td></tr><tr><td>48818</td><td>Aceruloplasminemia</td></tr><tr><td>488191</td><td>Female infertility due to oocyte meiotic arrest</td></tr><tr><td>488197</td><td>Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome</td></tr><tr><td>488232</td><td>Split-foot malformation-mesoaxial polydactyly syndrome</td></tr><tr><td>488239</td><td>Acute macular neuroretinopathy</td></tr><tr><td>488265</td><td>Osteofibrous dysplasia</td></tr><tr><td>488280</td><td>14q32 duplication syndrome</td></tr><tr><td>488333</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2W</td></tr><tr><td>488434</td><td>Camptodactyly syndrome, Guadalajara type 3</td></tr><tr><td>488437</td><td>SIX2-related frontonasal dysplasia</td></tr><tr><td>488586</td><td>Congenital amyoplasia</td></tr><tr><td>488594</td><td>Autosomal recessive spastic paraplegia type 76</td></tr><tr><td>488613</td><td>Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome</td></tr><tr><td>488618</td><td>Transketolase deficiency</td></tr><tr><td>488627</td><td>Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome</td></tr><tr><td>488632</td><td>TBCK-related intellectual disability syndrome</td></tr><tr><td>488635</td><td>Early-onset epilepsy-intellectual disability-brain anomalies syndrome</td></tr><tr><td>488642</td><td>TELO2-related intellectual disability-neurodevelopmental disorder</td></tr><tr><td>488647</td><td>DDX41-related hematologic malignancy predisposition syndrome</td></tr><tr><td>488650</td><td>Distal myopathy, Tateyama type</td></tr><tr><td>48918</td><td>Focal myositis</td></tr><tr><td>49</td><td>Penile agenesis</td></tr><tr><td>490</td><td>Omphalomesenteric cyst</td></tr><tr><td>49041</td><td>IgG4-related retroperitoneal fibrosis</td></tr><tr><td>49042</td><td>Dentinogenesis imperfecta</td></tr><tr><td>492</td><td>Proliferating trichilemmal cyst</td></tr><tr><td>493</td><td>Familial keratoacanthoma</td></tr><tr><td>493342</td><td>Vibratory urticaria</td></tr><tr><td>49382</td><td>Achromatopsia</td></tr><tr><td>494</td><td>Keratoderma hereditarium mutilans</td></tr><tr><td>494344</td><td>RERE-related neurodevelopmental syndrome</td></tr><tr><td>494418</td><td>Vulvar carcinoma</td></tr><tr><td>494421</td><td>Sacrococcygeal teratoma</td></tr><tr><td>494424</td><td>Extracranial carotid artery aneurysm</td></tr><tr><td>494428</td><td>Idiopathic pleuroparenchymal fibroelastosis</td></tr><tr><td>494433</td><td>MIRAGE syndrome</td></tr><tr><td>494439</td><td>Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome</td></tr><tr><td>494444</td><td>DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome</td></tr><tr><td>494448</td><td>Vulvar squamous cell carcinoma</td></tr><tr><td>494451</td><td>Vulvar basal cell carcinoma</td></tr><tr><td>494454</td><td>Vulvar adenocarcinoma</td></tr><tr><td>494526</td><td>Infantile-onset generalized dyskinesia with orofacial involvement</td></tr><tr><td>494541</td><td>Childhood-onset benign chorea with striatal involvement</td></tr><tr><td>494547</td><td>Squamous cell carcinoma of the hypopharynx</td></tr><tr><td>494550</td><td>Squamous cell carcinoma of the larynx</td></tr><tr><td>495</td><td>Transgrediens et progrediens palmoplantar keratoderma</td></tr><tr><td>495274</td><td>Charcot-Marie-Tooth disease type 2T</td></tr><tr><td>49566</td><td>Acquired purpura fulminans</td></tr><tr><td>495818</td><td>9q33.3q34.11 microdeletion syndrome</td></tr><tr><td>495844</td><td>C11ORF73-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>495875</td><td>Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome</td></tr><tr><td>495879</td><td>Congenital agenesis of the scrotum</td></tr><tr><td>495930</td><td>Familial monosomy 7 syndrome</td></tr><tr><td>496641</td><td>Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome</td></tr><tr><td>496686</td><td>Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome</td></tr><tr><td>496689</td><td>Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome</td></tr><tr><td>496693</td><td>Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome</td></tr><tr><td>496751</td><td>EVEN-plus syndrome</td></tr><tr><td>496756</td><td>Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome</td></tr><tr><td>496790</td><td>Ocular anomalies-axonal neuropathy-developmental delay syndrome</td></tr><tr><td>497188</td><td>Diffuse intrinsic pontine glioma</td></tr><tr><td>497737</td><td>Epidermolytic nevus</td></tr><tr><td>497757</td><td>MME-related autosomal dominant Charcot Marie Tooth disease type 2</td></tr><tr><td>497764</td><td>Spinocerebellar ataxia type 43</td></tr><tr><td>497906</td><td>Childhood-onset basal ganglia degeneration syndrome</td></tr><tr><td>49804</td><td>Lichen amyloidosis</td></tr><tr><td>498228</td><td>Phyllodes tumor of the prostate</td></tr><tr><td>498251</td><td>Menstrual cycle-dependent periodic fever</td></tr><tr><td>49827</td><td>Thiamine-responsive megaloblastic anemia syndrome</td></tr><tr><td>498359</td><td>Aquagenic palmoplantar keratoderma</td></tr><tr><td>498474</td><td>Hyaline fibromatosis syndrome</td></tr><tr><td>498481</td><td>LRP5-related primary osteoporosis</td></tr><tr><td>498485</td><td>Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome</td></tr><tr><td>498488</td><td>Overgrowth syndrome with 2q37 translocation</td></tr><tr><td>498494</td><td>Mirror-image polydactyly</td></tr><tr><td>498497</td><td>Short rib-polydactyly syndrome type 5</td></tr><tr><td>498602</td><td>Sugarman brachydactyly</td></tr><tr><td>498693</td><td>MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome</td></tr><tr><td>499</td><td>Kerion celsi</td></tr><tr><td>499009</td><td>Congenital syphilis</td></tr><tr><td>499085</td><td>Chronic relapsing inflammatory optic neuropathy</td></tr><tr><td>499096</td><td>Isolated optic neuritis</td></tr><tr><td>499103</td><td>Recurrent idiopathic neuroretinitis</td></tr><tr><td>499107</td><td>Idiopathic optic perineuritis</td></tr><tr><td>499182</td><td>Pilomatrix carcinoma</td></tr><tr><td>5</td><td>Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</td></tr><tr><td>50</td><td>Aicardi syndrome</td></tr><tr><td>500</td><td>Noonan syndrome with multiple lentigines</td></tr><tr><td>500055</td><td>Hao-Fountain syndrome due to 16p13.2 microdeletion</td></tr><tr><td>500062</td><td>Infantile-onset periodic fever-panniculitis-dermatosis syndrome</td></tr><tr><td>500095</td><td>Tall stature-intellectual disability-renal anomalies syndrome</td></tr><tr><td>500135</td><td>Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome</td></tr><tr><td>500144</td><td>Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome</td></tr><tr><td>500150</td><td>Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>500159</td><td>Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom</td></tr><tr><td>500163</td><td>Witteveen-Kolk syndrome</td></tr><tr><td>500166</td><td>SIN3A-related intellectual disability syndrome due to a point mutation</td></tr><tr><td>500180</td><td>Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder</td></tr><tr><td>500188</td><td>X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome</td></tr><tr><td>500464</td><td>Squamous cell carcinoma of the nasal cavity and paranasal sinuses</td></tr><tr><td>500478</td><td>Squamous cell carcinoma of the oropharynx</td></tr><tr><td>500481</td><td>Squamous cell carcinoma of salivary glands</td></tr><tr><td>500533</td><td>Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome</td></tr><tr><td>500545</td><td>Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract</td></tr><tr><td>500548</td><td>Osteosclerotic metaphyseal dysplasia</td></tr><tr><td>501</td><td>Lafora disease</td></tr><tr><td>502</td><td>Trichorhinophalangeal syndrome type 2</td></tr><tr><td>502305</td><td>Cochleovestibular malformation</td></tr><tr><td>502318</td><td>Cochlear nerve deficiency</td></tr><tr><td>502363</td><td>Squamous cell carcinoma of the oral cavity</td></tr><tr><td>502366</td><td>Squamous cell carcinoma of the lip</td></tr><tr><td>502423</td><td>Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</td></tr><tr><td>502430</td><td>Metopic ridging-ptosis-facial dysmorphism syndrome</td></tr><tr><td>502434</td><td>STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome</td></tr><tr><td>502437</td><td>4q25 proximal deletion syndrome</td></tr><tr><td>502444</td><td>Alkaline ceramidase 3 deficiency</td></tr><tr><td>502499</td><td>Erythema multiforme major</td></tr><tr><td>50251</td><td>Pleural mesothelioma</td></tr><tr><td>503</td><td>Larsen syndrome</td></tr><tr><td>504</td><td>Creeping myiasis</td></tr><tr><td>504476</td><td>Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome</td></tr><tr><td>504523</td><td>Severe combined immunodeficiency due to LAT deficiency</td></tr><tr><td>504530</td><td>Combined immunodeficiency due to Moesin deficiency</td></tr><tr><td>505</td><td>Graham Little-Piccardi-Lassueur syndrome</td></tr><tr><td>505208</td><td>3-methylglutaconic aciduria type 8</td></tr><tr><td>505216</td><td>3-methylglutaconic aciduria type 9</td></tr><tr><td>505227</td><td>Combined immunodeficiency due to GINS1 deficiency</td></tr><tr><td>505237</td><td>Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome</td></tr><tr><td>505242</td><td>Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome</td></tr><tr><td>505248</td><td>Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders</td></tr><tr><td>505395</td><td>Ventilator-induced diaphragmatic dysfunction</td></tr><tr><td>505652</td><td>CDKL5-deficiency disorder</td></tr><tr><td>506</td><td>Leigh syndrome</td></tr><tr><td>506075</td><td>Non-functioning neuroendocrine tumor of pancreas</td></tr><tr><td>506090</td><td>Serotonin-producing neuroendocrine tumor of pancreas</td></tr><tr><td>506098</td><td>Neuroendocrine carcinoma of pancreas</td></tr><tr><td>506112</td><td>Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas</td></tr><tr><td>506136</td><td>Neuroendocrine neoplasm of esophagus</td></tr><tr><td>506307</td><td>Stromme syndrome</td></tr><tr><td>506334</td><td>Familial steroid-resistant nephrotic syndrome with adrenal insufficiency</td></tr><tr><td>506353</td><td>Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction</td></tr><tr><td>506358</td><td>Gabriele-de Vries syndrome</td></tr><tr><td>506784</td><td>Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome</td></tr><tr><td>507</td><td>Leishmaniasis</td></tr><tr><td>508</td><td>Leprechaunism</td></tr><tr><td>50809</td><td>Talo-patello-scaphoid osteolysis</td></tr><tr><td>508093</td><td>MEPAN syndrome</td></tr><tr><td>50810</td><td>Microlissencephaly-micromelia syndrome</td></tr><tr><td>50811</td><td>Lipodystrophy-intellectual disability-deafness syndrome</td></tr><tr><td>50812</td><td>Zellweger-like syndrome without peroxisomal anomalies</td></tr><tr><td>50814</td><td>Craniolenticulosutural dysplasia</td></tr><tr><td>50815</td><td>Branchiogenic deafness syndrome</td></tr><tr><td>50817</td><td>Duane anomaly-myopathy-scoliosis syndrome</td></tr><tr><td>50839</td><td>Cat-scratch disease</td></tr><tr><td>508410</td><td>Familial intestinal malrotation</td></tr><tr><td>508476</td><td>Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome</td></tr><tr><td>508488</td><td>8q24.3 microdeletion syndrome</td></tr><tr><td>508498</td><td>Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome</td></tr><tr><td>508501</td><td>Oral-facial-digital syndrome with short stature and brachymesophalangy</td></tr><tr><td>508512</td><td>Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome</td></tr><tr><td>508523</td><td>Hyperphenylalaninemia due to DNAJC12 deficiency</td></tr><tr><td>508529</td><td>Intermediate epidermolysis bullosa simplex with cardiomyopathy</td></tr><tr><td>508533</td><td>Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome</td></tr><tr><td>508542</td><td>Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome</td></tr><tr><td>509</td><td>Leptospirosis</td></tr><tr><td>50918</td><td>Kikuchi-Fujimoto disease</td></tr><tr><td>50942</td><td>Striate palmoplantar keratoderma</td></tr><tr><td>50943</td><td>Keratolytic winter erythema</td></tr><tr><td>50944</td><td>Schöpf-Schulz-Passarge syndrome</td></tr><tr><td>50945</td><td>Blomstrand lethal chondrodysplasia</td></tr><tr><td>51</td><td>Aicardi-Goutières syndrome</td></tr><tr><td>510</td><td>Lesch-Nyhan syndrome</td></tr><tr><td>51083</td><td>Familial short QT syndrome</td></tr><tr><td>51084</td><td>Torsade-de-pointes syndrome with short coupling interval</td></tr><tr><td>511</td><td>Maple syrup urine disease</td></tr><tr><td>51188</td><td>Ethylmalonic encephalopathy</td></tr><tr><td>512</td><td>Metachromatic leukodystrophy</td></tr><tr><td>512017</td><td>Chronic lymphoproliferative disorder of natural killer cells</td></tr><tr><td>51208</td><td>Formiminoglutamic aciduria</td></tr><tr><td>512103</td><td>Autosomal recessive epidermolytic ichthyosis</td></tr><tr><td>512260</td><td>Congenital cerebellar ataxia due to RNU12 mutation</td></tr><tr><td>513436</td><td>Autosomal recessive spastic paraplegia type 78</td></tr><tr><td>513456</td><td>Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome</td></tr><tr><td>514</td><td>Acute monoblastic/monocytic leukemia</td></tr><tr><td>514352</td><td>Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome</td></tr><tr><td>51608</td><td>Generalized arterial calcification of infancy</td></tr><tr><td>51636</td><td>WHIM syndrome</td></tr><tr><td>517</td><td>Acute myelomonocytic leukemia</td></tr><tr><td>518</td><td>Acute megakaryoblastic leukemia</td></tr><tr><td>51890</td><td>Anterior cutaneous nerve entrapment syndrome</td></tr><tr><td>519384</td><td>Congenital cystic eye</td></tr><tr><td>519386</td><td>Isolated congenital entropion</td></tr><tr><td>519388</td><td>Autosomal recessive anterior segment dysgenesis</td></tr><tr><td>519390</td><td>Isolated blepharochalasis</td></tr><tr><td>519392</td><td>Isolated iridoschisis</td></tr><tr><td>519396</td><td>Isolated microspherophakia</td></tr><tr><td>519398</td><td>Isolated foveal hypoplasia</td></tr><tr><td>519400</td><td>Peripapillary staphyloma</td></tr><tr><td>519402</td><td>Isolated megalopapilla</td></tr><tr><td>519404</td><td>Optic disc pit</td></tr><tr><td>519406</td><td>Thygeson superficial punctate keratitis</td></tr><tr><td>519408</td><td>Mooren ulcer</td></tr><tr><td>519410</td><td>Terrien marginal degeneration</td></tr><tr><td>519930</td><td>Fungal keratitis</td></tr><tr><td>52</td><td>Alagille syndrome</td></tr><tr><td>520</td><td>Acute promyelocytic leukemia</td></tr><tr><td>52022</td><td>Potocki-Shaffer syndrome</td></tr><tr><td>52047</td><td>Braddock syndrome</td></tr><tr><td>52054</td><td>Craniosynostosis-intracranial calcifications syndrome</td></tr><tr><td>52055</td><td>Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome</td></tr><tr><td>52056</td><td>Ulnar/fibula ray defect-brachydactyly syndrome</td></tr><tr><td>521</td><td>Chronic myeloid leukemia</td></tr><tr><td>521123</td><td>Radiation-induced plexopathy</td></tr><tr><td>521127</td><td>Osteoradionecrosis of the mandible</td></tr><tr><td>521219</td><td>Mirizzi syndrome</td></tr><tr><td>521258</td><td>Xq25 microduplication syndrome</td></tr><tr><td>521305</td><td>Proximal myopathy with focal depletion of mitochondria</td></tr><tr><td>521308</td><td>Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome</td></tr><tr><td>521390</td><td>Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome</td></tr><tr><td>521406</td><td>Dystonia-parkinsonism-hypermanganesemia syndrome</td></tr><tr><td>521411</td><td>Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect</td></tr><tr><td>521414</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2DD</td></tr><tr><td>521426</td><td>PLAA-associated neurodevelopmental disorder</td></tr><tr><td>521432</td><td>Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome</td></tr><tr><td>521438</td><td>Congenital vertebral-cardiac-renal anomalies syndrome</td></tr><tr><td>521445</td><td>Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome</td></tr><tr><td>521450</td><td>LAMA5-related multisystemic syndrome</td></tr><tr><td>522037</td><td>Primary autoimmune enteropathy</td></tr><tr><td>522077</td><td>Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome</td></tr><tr><td>523</td><td>Hereditary leiomyomatosis and renal cell cancer</td></tr><tr><td>52368</td><td>Mohr-Tranebjaerg syndrome</td></tr><tr><td>524</td><td>Li-Fraumeni syndrome</td></tr><tr><td>52416</td><td>Mantle cell lymphoma</td></tr><tr><td>52417</td><td>MALT lymphoma</td></tr><tr><td>52427</td><td>Retinitis punctata albescens</td></tr><tr><td>52429</td><td>Branchiootic syndrome</td></tr><tr><td>52430</td><td>Inclusion body myopathy with Paget disease of bone and frontotemporal dementia</td></tr><tr><td>525</td><td>Lichen planopilaris</td></tr><tr><td>52503</td><td>X-linked creatine transporter deficiency</td></tr><tr><td>52530</td><td>Pseudo-von Willebrand disease</td></tr><tr><td>525731</td><td>Pediatric-onset Graves disease</td></tr><tr><td>525738</td><td>Prepubertal anorexia nervosa</td></tr><tr><td>526</td><td>Liddle syndrome</td></tr><tr><td>527276</td><td>Encephalopathy due to mitochondrial and peroxisomal fission defect</td></tr><tr><td>527450</td><td>Severe myopia-generalized joint laxity-short stature syndrome</td></tr><tr><td>527468</td><td>Diaphragmatic hernia-short bowel-asplenia syndrome</td></tr><tr><td>527497</td><td>NKX6-2-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>528</td><td>Congenital generalized lipodystrophy</td></tr><tr><td>528084</td><td>Non-specific syndromic intellectual disability</td></tr><tr><td>528091</td><td>Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome</td></tr><tr><td>528105</td><td>Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome</td></tr><tr><td>528623</td><td>Hereditary angioedema with C1Inh deficiency</td></tr><tr><td>528647</td><td>Hereditary angioedema with normal C1Inh</td></tr><tr><td>528663</td><td>Acquired angioedema with C1Inh deficiency</td></tr><tr><td>529</td><td>Roch-Leri mesosomatous lipomatosis</td></tr><tr><td>52901</td><td>Isolated follicle stimulating hormone deficiency</td></tr><tr><td>529468</td><td>Monoclonal mast cell activation syndrome</td></tr><tr><td>529574</td><td>Duane retraction syndrome with congenital deafness</td></tr><tr><td>529665</td><td>Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome</td></tr><tr><td>529799</td><td>Acute bilirubin encephalopathy</td></tr><tr><td>529808</td><td>Chronic bilirubin encephalopathy</td></tr><tr><td>529831</td><td>Letrozole toxicity</td></tr><tr><td>529852</td><td>Combined hepatocellular carcinoma and cholangiocarcinoma</td></tr><tr><td>529864</td><td>Secondary erythromelalgia</td></tr><tr><td>52994</td><td>Orbital leiomyoma</td></tr><tr><td>529962</td><td>17q24.2 microdeletion syndrome</td></tr><tr><td>529965</td><td>Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome</td></tr><tr><td>529970</td><td>Male infertility due to acephalic spermatozoa</td></tr><tr><td>529977</td><td>Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome</td></tr><tr><td>529980</td><td>Inflammatory bowel disease-recurrent sinopulmonary infections syndrome</td></tr><tr><td>53</td><td>Albers-Schönberg osteopetrosis</td></tr><tr><td>530</td><td>Lipoid proteinosis</td></tr><tr><td>530033</td><td>Dermoid or epidermoid cyst of the central nervous system</td></tr><tr><td>530298</td><td>Progressive myoclonic epilepsy with neuroserpin inclusion bodies</td></tr><tr><td>530303</td><td>Progressive dementia with neuroserpin inclusion bodies</td></tr><tr><td>53035</td><td>Caroli disease</td></tr><tr><td>530792</td><td>RELA fusion-positive ependymoma</td></tr><tr><td>530838</td><td>KRT1-related diffuse nonepidermolytic keratoderma</td></tr><tr><td>530849</td><td>Familial apolipoprotein A5 deficiency</td></tr><tr><td>530983</td><td>Lamb-Shaffer syndrome</td></tr><tr><td>530995</td><td>Mixed phenotype acute leukemia</td></tr><tr><td>531</td><td>Miller-Dieker syndrome</td></tr><tr><td>531151</td><td>9q21.13 microdeletion syndrome</td></tr><tr><td>53271</td><td>Muenke syndrome</td></tr><tr><td>53296</td><td>Familial cutaneous collagenoma</td></tr><tr><td>533</td><td>Listeriosis</td></tr><tr><td>53347</td><td>Brody myopathy</td></tr><tr><td>53351</td><td>X-linked dystonia-parkinsonism</td></tr><tr><td>53372</td><td>Hereditary geniospasm</td></tr><tr><td>534</td><td>Oculocerebrorenal syndrome of Lowe</td></tr><tr><td>53540</td><td>Goldmann-Favre syndrome</td></tr><tr><td>535453</td><td>Familial lipase maturation factor 1 deficiency</td></tr><tr><td>535458</td><td>Familial GPIHBP1 deficiency</td></tr><tr><td>53583</td><td>Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity</td></tr><tr><td>536</td><td>Systemic lupus erythematosus</td></tr><tr><td>536467</td><td>B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>536471</td><td>Spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>536516</td><td>Myopathic Ehlers-Danlos syndrome</td></tr><tr><td>536532</td><td>Classical-like Ehlers-Danlos syndrome type 2</td></tr><tr><td>536545</td><td>Kyphoscoliotic Ehlers-Danlos syndrome</td></tr><tr><td>53689</td><td>Congenital chloride diarrhea</td></tr><tr><td>53690</td><td>Congenital lactase deficiency</td></tr><tr><td>53691</td><td>Congenital cornea plana</td></tr><tr><td>53693</td><td>GRACILE syndrome</td></tr><tr><td>53696</td><td>Arthrogryposis-anterior horn cell disease syndrome</td></tr><tr><td>53697</td><td>Gnathodiaphyseal dysplasia</td></tr><tr><td>53698</td><td>Myosin storage myopathy</td></tr><tr><td>537</td><td>Toxic epidermal necrolysis</td></tr><tr><td>537072</td><td>PLG-related hereditary angioedema with normal C1Inh</td></tr><tr><td>53715</td><td>Familial tumoral calcinosis</td></tr><tr><td>53719</td><td>Wyburn-Mason syndrome</td></tr><tr><td>53721</td><td>Spinal arteriovenous metameric syndrome</td></tr><tr><td>538</td><td>Lymphangioleiomyomatosis</td></tr><tr><td>538096</td><td>Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy</td></tr><tr><td>538101</td><td>Congenital axonal neuropathy with encephalopathy</td></tr><tr><td>538574</td><td>Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome</td></tr><tr><td>538756</td><td>Familial multiple discoid fibromas</td></tr><tr><td>538863</td><td>Classic pyoderma gangrenosum</td></tr><tr><td>538866</td><td>Pustular pyoderma gangrenosum</td></tr><tr><td>538869</td><td>Bullous pyoderma gangrenosum</td></tr><tr><td>538872</td><td>Vegetative pyoderma gangrenosum</td></tr><tr><td>538931</td><td>X-linked lymphoproliferative disease due to SH2D1A deficiency</td></tr><tr><td>538934</td><td>X-linked lymphoproliferative disease due to XIAP deficiency</td></tr><tr><td>538958</td><td>Combined immunodeficiency due to CD70 deficiency</td></tr><tr><td>538963</td><td>Combined immunodeficiency due to ITK deficiency</td></tr><tr><td>54</td><td>X-linked recessive ocular albinism</td></tr><tr><td>540</td><td>Familial hemophagocytic lymphohistiocytosis</td></tr><tr><td>54028</td><td>Plummer-Vinson syndrome</td></tr><tr><td>54057</td><td>Thrombotic thrombocytopenic purpura</td></tr><tr><td>541423</td><td>Growth delay-intellectual disability-hepatopathy syndrome</td></tr><tr><td>541443</td><td>Anomalous aortic origin of the left coronary artery</td></tr><tr><td>541454</td><td>Anomalous aortic origin of the right coronary artery</td></tr><tr><td>541507</td><td>Anomalous origin of coronary artery from the pulmonary artery</td></tr><tr><td>542301</td><td>Combined immunodeficiency due to CARMIL2 deficiency</td></tr><tr><td>542306</td><td>GNB5-related intellectual disability-cardiac arrhythmia syndrome</td></tr><tr><td>542310</td><td>Leukoencephalopathy with calcifications and cysts</td></tr><tr><td>542323</td><td>CAR T cell therapy-associated cytokine release syndrome</td></tr><tr><td>54247</td><td>Posterior cortical atrophy</td></tr><tr><td>54251</td><td>Corticosteroid-sensitive aseptic abscess syndrome</td></tr><tr><td>542568</td><td>Quadricuspid aortic valve</td></tr><tr><td>542585</td><td>Auditory neuropathy-optic atrophy syndrome</td></tr><tr><td>542592</td><td>Necrobiosis lipoidica</td></tr><tr><td>54260</td><td>Left ventricular noncompaction</td></tr><tr><td>542643</td><td>Livedoid vasculopathy</td></tr><tr><td>542657</td><td>Isolated hyperchlorhidrosis</td></tr><tr><td>54272</td><td>Hepatocellular adenoma</td></tr><tr><td>543</td><td>Burkitt lymphoma</td></tr><tr><td>543470</td><td>Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome</td></tr><tr><td>54368</td><td>Sarcocystosis</td></tr><tr><td>54370</td><td>Primary membranoproliferative glomerulonephritis</td></tr><tr><td>544254</td><td>SYNGAP1-related developmental and epileptic encephalopathy</td></tr><tr><td>544469</td><td>PRUNE1-related neurological syndrome</td></tr><tr><td>544472</td><td>Atypical hemolytic uremic syndrome with complement gene abnormality</td></tr><tr><td>544482</td><td>Infection-related hemolytic uremic syndrome</td></tr><tr><td>544488</td><td>Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome</td></tr><tr><td>544493</td><td>Streptococcus pneumoniae-associated hemolytic uremic syndrome</td></tr><tr><td>544503</td><td>RNF13-related severe early-onset epileptic encephalopathy</td></tr><tr><td>544578</td><td>Congenital primary megaureter, refluxing and obstructed form</td></tr><tr><td>544602</td><td>Congenital myopathy with reduced type 2 muscle fibers</td></tr><tr><td>544628</td><td>Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome</td></tr><tr><td>545</td><td>Follicular lymphoma</td></tr><tr><td>54595</td><td>Craniopharyngioma</td></tr><tr><td>548</td><td>Leprosy</td></tr><tr><td>549</td><td>Legionnaires disease</td></tr><tr><td>550</td><td>MELAS</td></tr><tr><td>551</td><td>MERRF</td></tr><tr><td>552</td><td>MODY</td></tr><tr><td>555402</td><td>NAD(P)HX dehydratase deficiency</td></tr><tr><td>555407</td><td>NAD(P)HX epimerase deficiency</td></tr><tr><td>555434</td><td>Fibrohistiocytic inflammatory pseudotumor of the liver</td></tr><tr><td>555437</td><td>Lymphoplasmacytic inflammatory pseudotumor of the liver</td></tr><tr><td>555874</td><td>Congenital tricuspid valve dysplasia</td></tr><tr><td>555877</td><td>FLNA-related X-linked myxomatous valvular dysplasia</td></tr><tr><td>555905</td><td>IgA pemphigus</td></tr><tr><td>55595</td><td>TNP03-related limb-girdle muscular dystrophy D2</td></tr><tr><td>55596</td><td>HNRNPDL-related limb-girdle muscular dystrophy D3</td></tr><tr><td>556</td><td>Malakoplakia</td></tr><tr><td>556030</td><td>Early-onset familial hypoaldosteronism</td></tr><tr><td>556037</td><td>Late-onset familial hypoaldosteronism</td></tr><tr><td>55654</td><td>Hypotrichosis simplex</td></tr><tr><td>55655</td><td>Pneumococcal meningitis</td></tr><tr><td>556955</td><td>Pancreatic agenesis-holoprosencephaly syndrome</td></tr><tr><td>556985</td><td>Early-onset calcifying leukoencephalopathy-skeletal dysplasia</td></tr><tr><td>557003</td><td>Oculoskeletodental syndrome</td></tr><tr><td>557056</td><td>Spastic ataxia-dysarthria due to glutaminase deficiency</td></tr><tr><td>557064</td><td>Neonatal epileptic encephalopathy due to glutaminase deficiency</td></tr><tr><td>558</td><td>Marfan syndrome</td></tr><tr><td>558411</td><td>Idiopathic gastroparesis</td></tr><tr><td>55880</td><td>Chondrosarcoma</td></tr><tr><td>55881</td><td>Adamantinoma</td></tr><tr><td>559</td><td>Marinesco-Sjögren syndrome</td></tr><tr><td>56</td><td>Alkaptonuria</td></tr><tr><td>560</td><td>Marshall syndrome</td></tr><tr><td>561</td><td>Marshall-Smith syndrome</td></tr><tr><td>561854</td><td>FOXG1 syndrome</td></tr><tr><td>562</td><td>McCune-Albright syndrome</td></tr><tr><td>562509</td><td>Heme oxygenase-1 deficiency</td></tr><tr><td>562528</td><td>Congenital limbs-face contractures-hypotonia-developmental delay syndrome</td></tr><tr><td>562538</td><td>Autosomal recessive extra-oral halitosis</td></tr><tr><td>562559</td><td>Anterior maxillary protrusion-strabismus-intellectual disability syndrome</td></tr><tr><td>562569</td><td>TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome</td></tr><tr><td>562639</td><td>Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome</td></tr><tr><td>563</td><td>Peripartum cardiomyopathy</td></tr><tr><td>56304</td><td>Atelosteogenesis type II</td></tr><tr><td>56305</td><td>Atelosteogenesis type III</td></tr><tr><td>563576</td><td>Autoimmune hepatitis type 1</td></tr><tr><td>563581</td><td>Autoimmune hepatitis type 2</td></tr><tr><td>563589</td><td>Seronegative autoimmune hepatitis</td></tr><tr><td>563609</td><td>Isolated anencephaly</td></tr><tr><td>563612</td><td>Isolated exencephaly</td></tr><tr><td>563666</td><td>Serous cystadenoma of childhood</td></tr><tr><td>563671</td><td>Mucinous cystadenoma of childhood</td></tr><tr><td>563676</td><td>Seromucinous cystadenoma of childhood</td></tr><tr><td>563684</td><td>Furuncular myiasis due to Dermatobia hominis</td></tr><tr><td>563687</td><td>Furuncular myiasis due to Cordylobia anthropophaga</td></tr><tr><td>563690</td><td>Furuncular myiasis due to Cordylobia rodhaini</td></tr><tr><td>563708</td><td>Syndromic congenital sodium diarrhea</td></tr><tr><td>563951</td><td>Isolated congenital aglossia</td></tr><tr><td>563954</td><td>Isolated congenital hypoglossia</td></tr><tr><td>563991</td><td>Osteochondrosis of the tarsal bone</td></tr><tr><td>564</td><td>Meckel syndrome</td></tr><tr><td>564003</td><td>Osteochondrosis of the metatarsal bone</td></tr><tr><td>564178</td><td>Primary hypomagnesemia-refractory seizures-intellectual disability syndrome</td></tr><tr><td>56425</td><td>Cold agglutinin disease</td></tr><tr><td>565</td><td>Menkes disease</td></tr><tr><td>565612</td><td>Primary triglyceride deposit cardiomyovasculopathy</td></tr><tr><td>565624</td><td>Combined oxidative phosphorylation defect type 39</td></tr><tr><td>565641</td><td>Primary desmosis coli</td></tr><tr><td>565782</td><td>Methotrexate toxicity</td></tr><tr><td>565788</td><td>Infantile inflammatory bowel disease with neurological involvement</td></tr><tr><td>565837</td><td>Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23</td></tr><tr><td>565858</td><td>Craniosynostosis-microretrognathia-severe intellectual disability syndrome</td></tr><tr><td>565899</td><td>POMGNT2-related limb-girdle muscular dystrophy R24</td></tr><tr><td>565909</td><td>Calpain-3-related limb-girdle muscular dystrophy D4</td></tr><tr><td>566</td><td>Congenital microcoria</td></tr><tr><td>566067</td><td>CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome</td></tr><tr><td>566175</td><td>Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome</td></tr><tr><td>566192</td><td>Congenital autosomal recessive small-platelet thrombocytopenia</td></tr><tr><td>566231</td><td>Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha</td></tr><tr><td>566243</td><td>Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta</td></tr><tr><td>566393</td><td>Acute mast cell leukemia</td></tr><tr><td>566396</td><td>Chronic mast cell leukemia</td></tr><tr><td>566841</td><td>Liver adenomatosis</td></tr><tr><td>566847</td><td>Aprosencephaly/atelencephaly spectrum</td></tr><tr><td>566852</td><td>Atelencephaly</td></tr><tr><td>566857</td><td>Aprosencephaly</td></tr><tr><td>566862</td><td>Left sided atrial isomerism</td></tr><tr><td>566943</td><td>Mueller-Weiss syndrome</td></tr><tr><td>567</td><td>22q11.2 deletion syndrome</td></tr><tr><td>567502</td><td>B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome</td></tr><tr><td>567544</td><td>Idiopathic non-lupus full-house nephropathy</td></tr><tr><td>567546</td><td>Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance</td></tr><tr><td>567548</td><td>Idiopathic steroid-resistant nephrotic syndrome</td></tr><tr><td>567550</td><td>Idiopathic multidrug-resistant nephrotic syndrome</td></tr><tr><td>567552</td><td>Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy</td></tr><tr><td>567983</td><td>Parenteral nutrition-associated cholestasis</td></tr><tr><td>568</td><td>Microphthalmia, Lenz type</td></tr><tr><td>568051</td><td>GJC2-related late-onset primary lymphedema</td></tr><tr><td>568056</td><td>Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome</td></tr><tr><td>568062</td><td>PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis</td></tr><tr><td>568065</td><td>EPHB4-related lymphatic-related hydrops fetalis</td></tr><tr><td>569</td><td>Familial or sporadic hemiplegic migraine</td></tr><tr><td>569164</td><td>Angiomatoid fibrous histiocytoma</td></tr><tr><td>569248</td><td>Microcystic stromal tumor</td></tr><tr><td>569274</td><td>Multiple mitochondrial dysfunctions syndrome type 5</td></tr><tr><td>569290</td><td>Multiple mitochondrial dysfunctions syndrome type 6</td></tr><tr><td>569816</td><td>CELSR1-related late-onset primary lymphedema</td></tr><tr><td>569821</td><td>Congenital primary lymphedema of Gordon</td></tr><tr><td>57</td><td>Glycogen storage disease due to aldolase A deficiency</td></tr><tr><td>570</td><td>Moebius syndrome</td></tr><tr><td>570371</td><td>Bartter syndrome type 5</td></tr><tr><td>570422</td><td>Galactose mutarotase deficiency</td></tr><tr><td>570431</td><td>Idiopathic multicentric Castleman disease</td></tr><tr><td>570438</td><td>HHV-8-associated multicentric Castleman disease</td></tr><tr><td>570470</td><td>Ricin poisoning</td></tr><tr><td>570491</td><td>QRSL1-related combined oxidative phosphorylation defect</td></tr><tr><td>570762</td><td>Infective endocarditis</td></tr><tr><td>57145</td><td>SUNCT syndrome</td></tr><tr><td>57196</td><td>Medial condensing osteitis of the clavicle</td></tr><tr><td>572</td><td>Immunodeficiency by defective expression of MHC class II</td></tr><tr><td>572013</td><td>Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome</td></tr><tr><td>572333</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome plus</td></tr><tr><td>572354</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome type 1</td></tr><tr><td>572361</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome type 2</td></tr><tr><td>572385</td><td>Brachydactyly type B1</td></tr><tr><td>572428</td><td>Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia</td></tr><tr><td>572543</td><td>RFVT2-related riboflavin transporter deficiency</td></tr><tr><td>572550</td><td>RFVT3-related riboflavin transporter deficiency</td></tr><tr><td>572761</td><td>DONSON-related microcephaly-short stature-limb abnormalities spectrum</td></tr><tr><td>572768</td><td>Microcephaly-micromelia syndrome</td></tr><tr><td>572773</td><td>Microcephaly-short stature-limb abnormalities syndrome</td></tr><tr><td>572798</td><td>WARS2-related combined oxidative phosphorylation defect</td></tr><tr><td>573</td><td>Monilethrix</td></tr><tr><td>573253</td><td>Split cord malformation type II</td></tr><tr><td>574</td><td>21q deletion syndrome</td></tr><tr><td>574918</td><td>Predisposition to severe viral infection due to IRF7 deficiency</td></tr><tr><td>574957</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency</td></tr><tr><td>575</td><td>Muckle-Wells syndrome</td></tr><tr><td>575553</td><td>Cathepsin A-related arteriopathy-strokes-leukoencephalopathy</td></tr><tr><td>576</td><td>Mucolipidosis type II</td></tr><tr><td>576074</td><td>Middle East respiratory syndrome</td></tr><tr><td>576227</td><td>Complete atrioventricular septal defect without ventricular hypoplasia</td></tr><tr><td>576232</td><td>Partial atrioventricular septal defect with ventricular hypoplasia</td></tr><tr><td>576235</td><td>Partial atrioventricular septal defect without ventricular hypoplasia</td></tr><tr><td>576242</td><td>Intermediate atrioventricular septal defect</td></tr><tr><td>576278</td><td>SATB2-associated syndrome</td></tr><tr><td>576283</td><td>SATB2-associated syndrome due to a pathogenic variant</td></tr><tr><td>576349</td><td>NLRC4-related familial cold autoinflammatory syndrome</td></tr><tr><td>576370</td><td>Variant Creutzfeldt-Jakob disease</td></tr><tr><td>576379</td><td>Iatrogenic Creutzfeldt-Jakob disease</td></tr><tr><td>577</td><td>Mucolipidosis type III</td></tr><tr><td>57777</td><td>Cirrhotic cardiomyopathy</td></tr><tr><td>57782</td><td>Mazabraud syndrome</td></tr><tr><td>578</td><td>Mucolipidosis type IV</td></tr><tr><td>579</td><td>Mucopolysaccharidosis type 1</td></tr><tr><td>58</td><td>Alexander disease</td></tr><tr><td>580</td><td>Mucopolysaccharidosis type 2</td></tr><tr><td>58017</td><td>Classic hairy cell leukemia</td></tr><tr><td>58040</td><td>Osteoblastoma</td></tr><tr><td>580572</td><td>Intraductal tubulopapillary neoplasm of pancreas</td></tr><tr><td>580933</td><td>Lethal brain and heart developmental defects</td></tr><tr><td>580940</td><td>QRICH1-related intellectual disability-chondrodysplasia syndrome</td></tr><tr><td>580951</td><td>Punctate inner choroidopathy</td></tr><tr><td>581</td><td>Mucopolysaccharidosis type 3</td></tr><tr><td>581271</td><td>Cramp-fasciculation syndrome</td></tr><tr><td>582</td><td>Mucopolysaccharidosis type 4</td></tr><tr><td>583</td><td>Mucopolysaccharidosis type 6</td></tr><tr><td>583097</td><td>Congenital infiltrating lipomatosis of the face</td></tr><tr><td>583595</td><td>Serine biosynthesis pathway deficiency, infantile/juvenile form</td></tr><tr><td>583602</td><td>Neu-laxova syndrome due to phosphoserine aminotransferase deficiency</td></tr><tr><td>583607</td><td>Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency</td></tr><tr><td>583612</td><td>Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency</td></tr><tr><td>583856</td><td>Isolated splenic vein thrombosis</td></tr><tr><td>583861</td><td>Isolated mesenteric vein thrombosis</td></tr><tr><td>584</td><td>Mucopolysaccharidosis type 7</td></tr><tr><td>585</td><td>Multiple sulfatase deficiency</td></tr><tr><td>585867</td><td>Acute myeloid leukemia with t(9;22)(q34.1;q11.2)</td></tr><tr><td>585877</td><td>B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality</td></tr><tr><td>585909</td><td>B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)</td></tr><tr><td>585918</td><td>B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)</td></tr><tr><td>585929</td><td>B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)</td></tr><tr><td>585936</td><td>B-lymphoblastic leukemia/lymphoma with hyperdiploidy</td></tr><tr><td>585942</td><td>B-lymphoblastic leukemia/lymphoma with hypodiploidy</td></tr><tr><td>585948</td><td>B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)</td></tr><tr><td>585956</td><td>B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)</td></tr><tr><td>586</td><td>Cystic fibrosis</td></tr><tr><td>586130</td><td>Sporadic fatal insomnia</td></tr><tr><td>587</td><td>Muir-Torre syndrome</td></tr><tr><td>588</td><td>Muscle-eye-brain disease</td></tr><tr><td>589</td><td>Myasthenia gravis</td></tr><tr><td>589435</td><td>Spondylometaphyseal dysplasia-corneal dystrophy syndrome</td></tr><tr><td>589442</td><td>Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome</td></tr><tr><td>589515</td><td>PUM1-associated developmental disability-ataxia-seizure syndrome</td></tr><tr><td>589522</td><td>Spinocerebellar ataxia type 46</td></tr><tr><td>589527</td><td>Spinocerebellar ataxia type 45</td></tr><tr><td>589534</td><td>Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)</td></tr><tr><td>589542</td><td>Myeloid/lymphoid neoplasm associated with JAK2 rearrangement</td></tr><tr><td>589547</td><td>GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder</td></tr><tr><td>589595</td><td>Mixed phenotype acute leukemia with t(v;11q23.3)</td></tr><tr><td>589608</td><td>Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies</td></tr><tr><td>589618</td><td>Dystonia 28</td></tr><tr><td>589821</td><td>Congenital-onset Steinert myotonic dystrophy</td></tr><tr><td>589824</td><td>Childhood-onset Steinert myotonic dystrophy</td></tr><tr><td>589827</td><td>Juvenile-onset Steinert myotonic dystrophy</td></tr><tr><td>589830</td><td>Adult-onset Steinert myotonic dystrophy</td></tr><tr><td>589833</td><td>Late-onset Steinert myotonic dystrophy</td></tr><tr><td>589856</td><td>Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</td></tr><tr><td>589905</td><td>PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome</td></tr><tr><td>59</td><td>Allan-Herndon-Dudley syndrome</td></tr><tr><td>590</td><td>Congenital myasthenic syndrome</td></tr><tr><td>590539</td><td>Isolated melanotic schwannoma</td></tr><tr><td>591</td><td>Furuncular myiasis</td></tr><tr><td>59135</td><td>Laing early-onset distal myopathy</td></tr><tr><td>59181</td><td>Sorsby pseudoinflammatory fundus dystrophy</td></tr><tr><td>592</td><td>Macrophagic myofasciitis</td></tr><tr><td>592564</td><td>GNAO1-related developmental delay-seizures-movement disorder spectrum</td></tr><tr><td>592570</td><td>TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome</td></tr><tr><td>592574</td><td>Menke-Hennekam syndrome</td></tr><tr><td>592850</td><td>Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies</td></tr><tr><td>592856</td><td>Neuromyelitis optica spectrum disorder with anti-MOG antibodies</td></tr><tr><td>592869</td><td>Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies</td></tr><tr><td>592873</td><td>Acute transverse myelitis with anti-MOG antibodies</td></tr><tr><td>592885</td><td>Isolated optic neuritis without anti-MOG antibodies</td></tr><tr><td>592888</td><td>Isolated optic neuritis with anti-MOG antibodies</td></tr><tr><td>592894</td><td>Acute disseminated encephalomyelitis with anti-MOG antibodies</td></tr><tr><td>592900</td><td>Acute disseminated encephalomyelitis without anti-MOG antibodies</td></tr><tr><td>59298</td><td>Schilder disease</td></tr><tr><td>59303</td><td>Neonatal ichthyosis-sclerosing cholangitis syndrome</td></tr><tr><td>59306</td><td>McLeod neuroacanthocytosis syndrome</td></tr><tr><td>59315</td><td>Rhombencephalosynapsis</td></tr><tr><td>595098</td><td>Timothy syndrome type 1</td></tr><tr><td>595105</td><td>Timothy syndrome type 2</td></tr><tr><td>595109</td><td>Atypical Timothy syndrome</td></tr><tr><td>595133</td><td>Perivascular epithelioid cell neoplasm</td></tr><tr><td>595356</td><td>Localized dystrophic epidermolysis bullosa</td></tr><tr><td>596</td><td>X-linked centronuclear myopathy</td></tr><tr><td>596008</td><td>Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis</td></tr><tr><td>596448</td><td>IgG4-related systemic disease</td></tr><tr><td>596753</td><td>VEXAS syndrome</td></tr><tr><td>596759</td><td>Combined immunodeficiency due to RELA haploinsufficiency</td></tr><tr><td>596937</td><td>Portosinusoidal vascular disease</td></tr><tr><td>596941</td><td>Incomplete septal cirrhosis</td></tr><tr><td>597</td><td>Central core disease</td></tr><tr><td>597201</td><td>TRIM22-related inflammatory bowel disease</td></tr><tr><td>597623</td><td>IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome</td></tr><tr><td>597733</td><td>Oculocutaneous albinism type 8</td></tr><tr><td>597738</td><td>Luscan-Lumish syndrome</td></tr><tr><td>597743</td><td>SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome</td></tr><tr><td>597746</td><td>Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome</td></tr><tr><td>597874</td><td>MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome</td></tr><tr><td>597887</td><td>ALPI-related inflammatory bowel disease</td></tr><tr><td>597939</td><td>Euthyroid dysprealbuminemic hyperthyroxinemia</td></tr><tr><td>598</td><td>Multiminicore myopathy</td></tr><tr><td>598164</td><td>FOXG1 syndrome due to intragenic alteration</td></tr><tr><td>598216</td><td>Upper tract urothelial carcinoma</td></tr><tr><td>598363</td><td>Multisystem inflammatory syndrome in children and adults</td></tr><tr><td>598603</td><td>Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome</td></tr><tr><td>599082</td><td>CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome</td></tr><tr><td>599373</td><td>STXBP1-related encephalopathy</td></tr><tr><td>599376</td><td>Hypomyelination of early myelinating structures</td></tr><tr><td>599418</td><td>Hereditary angioedema with normal C1Inh not related to F12 or PLG variant</td></tr><tr><td>599480</td><td>Acquired hemophilia A</td></tr><tr><td>599485</td><td>Acquired hemophilia B</td></tr><tr><td>599490</td><td>Acquired factor V deficiency</td></tr><tr><td>599495</td><td>Acquired factor VII deficiency</td></tr><tr><td>599501</td><td>Acquired factor X deficiency</td></tr><tr><td>599507</td><td>Acquired factor XI deficiency</td></tr><tr><td>599513</td><td>Acquired factor XIII deficiency</td></tr><tr><td>599519</td><td>Factor V short isoforms-related bleeding disorder</td></tr><tr><td>599579</td><td>Factor V Amsterdam bleeding disorder</td></tr><tr><td>6</td><td>3-methylcrotonyl-CoA carboxylase deficiency</td></tr><tr><td>60</td><td>Alpha-1-antitrypsin deficiency</td></tr><tr><td>600</td><td>Vocal cord and pharyngeal distal myopathy</td></tr><tr><td>60014</td><td>Argyria</td></tr><tr><td>60015</td><td>Enlarged parietal foramina</td></tr><tr><td>600194</td><td>Factor V Atlanta bleeding disorder</td></tr><tr><td>60025</td><td>Pulmonary alveolar microlithiasis</td></tr><tr><td>60026</td><td>Pulmonary nodular lymphoid hyperplasia</td></tr><tr><td>60030</td><td>Loeys-Dietz syndrome</td></tr><tr><td>60032</td><td>Recurrent respiratory papillomatosis</td></tr><tr><td>60033</td><td>Idiopathic bronchiectasis</td></tr><tr><td>60039</td><td>Pudendal neuralgia</td></tr><tr><td>60040</td><td>Megalencephaly-capillary malformation-polymicrogyria syndrome</td></tr><tr><td>60041</td><td>Congenital heart block</td></tr><tr><td>600663</td><td>NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance</td></tr><tr><td>600668</td><td>CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>600691</td><td>Combined deficiency of factor VII and factor X</td></tr><tr><td>600731</td><td>Clark-Baraitser syndrome</td></tr><tr><td>600952</td><td>Non-syndromic anorectal malformation with perineal fistula</td></tr><tr><td>600961</td><td>Non-syndromic anorectal malformation with rectourethral fistula</td></tr><tr><td>600966</td><td>Non-syndromic anorectal malformation with rectourethral fistula, bulbar type</td></tr><tr><td>600975</td><td>Non-syndromic anorectal malformation with rectourethral fistula, prostatic type</td></tr><tr><td>600984</td><td>Non-syndromic anorectal malformation with rectovesical fistula</td></tr><tr><td>600993</td><td>Non-syndromic anorectal malformation with vestibular fistula</td></tr><tr><td>600998</td><td>Non-syndromic cloacal malformation</td></tr><tr><td>601002</td><td>Non-syndromic anorectal malformation without fistula</td></tr><tr><td>601008</td><td>Non-syndromic anorectal malformation with anal stenosis</td></tr><tr><td>601013</td><td>Non-syndromic anorectal malformation with pouch colon</td></tr><tr><td>601018</td><td>Non-syndromic anorectal malformation with rectal atresia</td></tr><tr><td>601023</td><td>Non-syndromic anorectal malformation with rectal stenosis</td></tr><tr><td>601028</td><td>Non-syndromic anorectal malformation with rectovaginal fistula</td></tr><tr><td>601033</td><td>Non-syndromic anorectal malformation with H-type fistula</td></tr><tr><td>602</td><td>GNE myopathy</td></tr><tr><td>603</td><td>Distal myopathy, Welander type</td></tr><tr><td>603448</td><td>Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</td></tr><tr><td>603494</td><td>Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome</td></tr><tr><td>603515</td><td>Isolated female hypospadias</td></tr><tr><td>603684</td><td>KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome</td></tr><tr><td>603689</td><td>KLHL7-related Bohring-Opitz-like syndrome</td></tr><tr><td>603694</td><td>KLHL7-related Crisponi/cold-induced sweating-like syndrome</td></tr><tr><td>604680</td><td>Symptomatic form of X-linked centronuclear myopathy in female carriers</td></tr><tr><td>606</td><td>Proximal myotonic myopathy</td></tr><tr><td>609</td><td>Tibial muscular dystrophy</td></tr><tr><td>61</td><td>Alpha-mannosidosis</td></tr><tr><td>610</td><td>Bethlem myopathy</td></tr><tr><td>610569</td><td>KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome</td></tr><tr><td>610573</td><td>CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome</td></tr><tr><td>611</td><td>Inclusion body myositis</td></tr><tr><td>611201</td><td>Oculogastrointestinal-neurodevelopmental syndrome</td></tr><tr><td>611207</td><td>Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome</td></tr><tr><td>611216</td><td>Aplastic anemia-intellectual disability-dwarfism syndrome</td></tr><tr><td>611223</td><td>EN1-related dorsoventral syndrome</td></tr><tr><td>611237</td><td>Parkinsonism with polyneuropathy</td></tr><tr><td>611247</td><td>Pontocerebellar hypoplasia type 11</td></tr><tr><td>611256</td><td>Pontocerebellar hypoplasia type 12</td></tr><tr><td>613267</td><td>Pontocerebellar hypoplasia type 13</td></tr><tr><td>613274</td><td>Pontocerebellar hypoplasia type 14</td></tr><tr><td>614</td><td>Thomsen and Becker disease</td></tr><tr><td>615</td><td>Familial atrial myxoma</td></tr><tr><td>615938</td><td>Spastic paraparesis-cataracts-speech delay syndrome</td></tr><tr><td>615943</td><td>Granuloma faciale</td></tr><tr><td>615954</td><td>Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome</td></tr><tr><td>615964</td><td>Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate</td></tr><tr><td>615970</td><td>Chronic intervillositis of unknown etiology</td></tr><tr><td>615983</td><td>Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation</td></tr><tr><td>615986</td><td>Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster</td></tr><tr><td>616</td><td>Medulloblastoma</td></tr><tr><td>616874</td><td>Rare disorder without a determined diagnosis after full investigation</td></tr><tr><td>617</td><td>Congenital primary megaureter</td></tr><tr><td>617294</td><td>Twin anemia-polycythemia sequence</td></tr><tr><td>617297</td><td>Twin-reversed arterial perfusion sequence</td></tr><tr><td>617301</td><td>Selective intrauterine growth restriction</td></tr><tr><td>617304</td><td>Amniotic fluid embolism</td></tr><tr><td>617408</td><td>Classic eosinophilic pustular folliculitis</td></tr><tr><td>617440</td><td>Painful legs and moving toes syndrome</td></tr><tr><td>617449</td><td>Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome</td></tr><tr><td>617910</td><td>Conjunctival malignant melanoma</td></tr><tr><td>617916</td><td>Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia</td></tr><tr><td>617919</td><td>F12-associated cold autoinflammatory syndrome</td></tr><tr><td>617930</td><td>Hemophilia B Leyden</td></tr><tr><td>618</td><td>Familial melanoma</td></tr><tr><td>618891</td><td>Chronic neurovisceral acid sphingomyelinase deficiency</td></tr><tr><td>619233</td><td>Hereditary persistence of fetal hemoglobin-intellectual disability syndrome</td></tr><tr><td>619363</td><td>Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18</td></tr><tr><td>619367</td><td>SAMD9L-associated autoinflammatory syndrome</td></tr><tr><td>619941</td><td>Immune deficiency due to impaired neutrophil phagocytosis and migration</td></tr><tr><td>619948</td><td>Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome</td></tr><tr><td>619953</td><td>Familial hyperinflammatory lymphoproliferative immunodeficiency</td></tr><tr><td>619972</td><td>CADINS disease</td></tr><tr><td>619979</td><td>Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome</td></tr><tr><td>62</td><td>Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3</td></tr><tr><td>620102</td><td>Non-syndromic unicoronal craniosynostosis</td></tr><tr><td>620113</td><td>Non-syndromic unilambdoid craniosynostosis</td></tr><tr><td>620139</td><td>Non-syndromic unifrontosphenoidal craniosynostosis</td></tr><tr><td>620146</td><td>Non-syndromic unisquamosal craniosynostosis</td></tr><tr><td>620158</td><td>Non-syndromic non-specific multisutural craniosynostosis</td></tr><tr><td>620178</td><td>Non-syndromic bilambdoid craniosynostosis</td></tr><tr><td>620186</td><td>Non-syndromic unicoronal and sagittal craniosynostosis</td></tr><tr><td>620192</td><td>Non-syndromic metopic and sagittal craniosynostosis</td></tr><tr><td>620198</td><td>Non-syndromic bicoronal and metopic craniosynostosis</td></tr><tr><td>620205</td><td>Non-syndromic bicoronal and sagittal craniosynostosis</td></tr><tr><td>620212</td><td>Non-syndromic pansynostosis</td></tr><tr><td>620217</td><td>Bartter syndrome type 1</td></tr><tr><td>620220</td><td>Bartter syndrome type 2</td></tr><tr><td>620363</td><td>Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome</td></tr><tr><td>620368</td><td>EGF-related primary hypomagnesemia with intellectual disability</td></tr><tr><td>620371</td><td>Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation</td></tr><tr><td>621</td><td>Hereditary methemoglobinemia</td></tr><tr><td>621758</td><td>Fibrosis-neurodegeneration-cerebral angiomatosis syndrome</td></tr><tr><td>622</td><td>Homocystinuria without methylmalonic aciduria</td></tr><tr><td>622099</td><td>Superior mesenteric artery syndrome</td></tr><tr><td>622925</td><td>X-linked severe syndromic thoracic aortic aneurysm and dissection</td></tr><tr><td>622934</td><td>SBDS-related severe neonatal spondylometaphyseal dysplasia</td></tr><tr><td>623615</td><td>Autoimmune limbic encephalitis</td></tr><tr><td>623626</td><td>Paraneoplastic cerebellar degeneration</td></tr><tr><td>623695</td><td>MIR140-related spondyloepiphyseal dysplasia</td></tr><tr><td>623789</td><td>Body integrity dysphoria</td></tr><tr><td>623801</td><td>Acute flaccid myelitis</td></tr><tr><td>624</td><td>Familial multiple nevi flammei</td></tr><tr><td>624166</td><td>Non-specific autoimmune supratentorial encephalitis with characteristic antibodies</td></tr><tr><td>624178</td><td>Non-specific autoimmune supratentorial encephalitis without characteristic antibodies</td></tr><tr><td>624190</td><td>Paraneoplastic isolated brainstem encephalitis</td></tr><tr><td>624199</td><td>Non-specific autoimmune brainstem encephalitis with characteristic antibodies</td></tr><tr><td>624216</td><td>Non-specific autoimmune brainstem encephalitis without characteristic antibodies</td></tr><tr><td>624244</td><td>Postinfectious cerebellitis</td></tr><tr><td>624259</td><td>Non-specific autoimmune cerebellar ataxia with characteristic antibodies</td></tr><tr><td>624268</td><td>Non-specific autoimmune cerebellar ataxia without characteristic antibodies</td></tr><tr><td>626</td><td>Large congenital melanocytic nevus</td></tr><tr><td>627</td><td>Nance-Horan syndrome</td></tr><tr><td>628</td><td>Diastrophic dysplasia</td></tr><tr><td>629</td><td>Short stature due to growth hormone qualitative anomaly</td></tr><tr><td>63</td><td>Alport syndrome</td></tr><tr><td>631</td><td>Non-acquired isolated growth hormone deficiency</td></tr><tr><td>631068</td><td>Autosomal dominant spastic paraplegia type 80</td></tr><tr><td>631073</td><td>Autosomal recessive spastic paraplegia type 82</td></tr><tr><td>631076</td><td>Autosomal recessive spastic paraplegia type 83</td></tr><tr><td>631079</td><td>Autosomal recessive spastic paraplegia type 84</td></tr><tr><td>631082</td><td>Autosomal recessive spastic paraplegia type 85</td></tr><tr><td>631085</td><td>Autosomal recessive spastic paraplegia type 86</td></tr><tr><td>631088</td><td>Autosomal recessive spastic paraplegia type 87</td></tr><tr><td>631095</td><td>Spinocerebellar ataxia type 44</td></tr><tr><td>631103</td><td>Spinocerebellar ataxia type 48</td></tr><tr><td>631106</td><td>Spinocerebellar ataxia type 49</td></tr><tr><td>631248</td><td>Mitchell Syndrome</td></tr><tr><td>631251</td><td>Cancer of unknown primary site</td></tr><tr><td>632</td><td>Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia</td></tr><tr><td>63259</td><td>Iniencephaly</td></tr><tr><td>63260</td><td>Craniorachischisis</td></tr><tr><td>632603</td><td>Mesomelic dysplasia-digital anomalies-intellectual disability syndrome</td></tr><tr><td>63269</td><td>Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis</td></tr><tr><td>63273</td><td>Distal myopathy with posterior leg and anterior hand involvement</td></tr><tr><td>63275</td><td>Pemphigoid gestationis</td></tr><tr><td>633</td><td>Laron syndrome</td></tr><tr><td>633004</td><td>KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome</td></tr><tr><td>633014</td><td>SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome</td></tr><tr><td>633021</td><td>SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome</td></tr><tr><td>633024</td><td>SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome</td></tr><tr><td>633028</td><td>CPE-related Prader-Willi-like syndrome</td></tr><tr><td>633035</td><td>Intellectual disability-early-onset cataract-microcephaly syndrome</td></tr><tr><td>633076</td><td>Split cord malformation, composite type</td></tr><tr><td>633099</td><td>PAICS deficiency</td></tr><tr><td>633124</td><td>Invasive scopulariopsis infection</td></tr><tr><td>633211</td><td>Preaxial digit brachydactyly-webbed fingers</td></tr><tr><td>633228</td><td>Proximal femoral focal deficiency</td></tr><tr><td>634</td><td>Netherton syndrome</td></tr><tr><td>63442</td><td>Angel-shaped phalango-epiphyseal dysplasia</td></tr><tr><td>63446</td><td>Acrocapitofemoral dysplasia</td></tr><tr><td>634461</td><td>Mosaic neurofibromatosis type 1</td></tr><tr><td>634475</td><td>Mosaic NF2-related schwannomatosis</td></tr><tr><td>634492</td><td>Mosaic schwannomatosis</td></tr><tr><td>634511</td><td>Mosaic Legius syndrome</td></tr><tr><td>63455</td><td>Paraneoplastic pemphigus</td></tr><tr><td>635</td><td>Neuroblastoma</td></tr><tr><td>636</td><td>Neurofibromatosis type 1</td></tr><tr><td>636941</td><td>Vascular Ehlers-Danlos-polymicrogyria syndrome</td></tr><tr><td>636945</td><td>Invasive Candidiasis</td></tr><tr><td>636950</td><td>Glaucomatocyclitic crisis disease</td></tr><tr><td>636955</td><td>Endemic pemphigus foliaceus</td></tr><tr><td>636965</td><td>Autosomal dominant myosin storage myopathy</td></tr><tr><td>636970</td><td>Autosomal recessive myosin storage myopathy</td></tr><tr><td>637</td><td>Full NF2-related schwannomatosis</td></tr><tr><td>637013</td><td>SMARCA2-related blepharophimosis-intellectual disability syndrome</td></tr><tr><td>637051</td><td>Borna virus encephalitis</td></tr><tr><td>637061</td><td>Isolated optic nerve hypoplasia</td></tr><tr><td>637064</td><td>Isolated optic nerve aplasia</td></tr><tr><td>638</td><td>Neurofibromatosis-Noonan syndrome</td></tr><tr><td>63862</td><td>Schisis association</td></tr><tr><td>639</td><td>Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG</td></tr><tr><td>63999</td><td>IgG4-related mediastinitis</td></tr><tr><td>64</td><td>Alström syndrome</td></tr><tr><td>640</td><td>Hereditary neuropathy with liability to pressure palsies</td></tr><tr><td>641</td><td>Multifocal motor neuropathy</td></tr><tr><td>641350</td><td>Immunotherapy induced hypophysitis</td></tr><tr><td>641353</td><td>Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome</td></tr><tr><td>641361</td><td>Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome</td></tr><tr><td>641368</td><td>Autosomal recessive hyper-IgE syndrome</td></tr><tr><td>641372</td><td>B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)</td></tr><tr><td>641375</td><td>B-lymphoblastic leukemia/lymphoma with t(17;19)</td></tr><tr><td>641380</td><td>PAPASH syndrome</td></tr><tr><td>641385</td><td>PASS syndrome</td></tr><tr><td>641390</td><td>PsAPASH syndrome</td></tr><tr><td>641396</td><td>Central nervous system tuberculosis</td></tr><tr><td>641496</td><td>Childhood-onset schizophrenia</td></tr><tr><td>641829</td><td>Neonatal compartment syndrome</td></tr><tr><td>642</td><td>Hereditary sensory and autonomic neuropathy type 4</td></tr><tr><td>642071</td><td>Primary pulmonary vein stenosis</td></tr><tr><td>642085</td><td>Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type</td></tr><tr><td>642099</td><td>Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type</td></tr><tr><td>642671</td><td>Familial hyperaldosteronism type IV</td></tr><tr><td>642675</td><td>CHD8 overgrowth syndrome</td></tr><tr><td>642691</td><td>Fragile X-associated primary ovarian insufficiency</td></tr><tr><td>642747</td><td>PUM1-related cerebellar ataxia</td></tr><tr><td>642763</td><td>Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation</td></tr><tr><td>642788</td><td>Cushing syndrome due to cortisol-producing adrenocortical adenoma</td></tr><tr><td>64280</td><td>Childhood absence epilepsy</td></tr><tr><td>642945</td><td>Perrault syndrome type 1</td></tr><tr><td>642954</td><td>Autosomal recessive ataxia due to PEX16 deficiency</td></tr><tr><td>642965</td><td>Autosomal recessive ataxia due to PEX2 deficiency</td></tr><tr><td>642976</td><td>Perrault syndrome type 2</td></tr><tr><td>643</td><td>Giant axonal neuropathy</td></tr><tr><td>643503</td><td>Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome</td></tr><tr><td>643538</td><td>Hao-Fountain syndrome due to USP7 mutation</td></tr><tr><td>643549</td><td>Hao-Fountain syndrome</td></tr><tr><td>644</td><td>NARP syndrome</td></tr><tr><td>645188</td><td>Spinal dermal sinus</td></tr><tr><td>645285</td><td>Chaotic conus spinal cord lipoma</td></tr><tr><td>645288</td><td>Terminal extramedullary conus spinal cord lipoma</td></tr><tr><td>645291</td><td>Transitional extramedullary conus spinal cord lipoma</td></tr><tr><td>645294</td><td>Posterior extramedullary conus spinal cord lipoma</td></tr><tr><td>645297</td><td>Extramedullary conus spinal cord lipoma</td></tr><tr><td>645300</td><td>Lipomatous non-saccular limited dorsal myeloschisis</td></tr><tr><td>645310</td><td>Fibroneural non-saccular limited dorsal myeloschisis</td></tr><tr><td>645322</td><td>Isolated transitional filum lipoma</td></tr><tr><td>645325</td><td>Isolated filum lipoma</td></tr><tr><td>645334</td><td>Retained medullary cord</td></tr><tr><td>645337</td><td>Terminal myelocystocele</td></tr><tr><td>645340</td><td>Non-terminal myelocystocele</td></tr><tr><td>645343</td><td>Non-saccular limited dorsal myeloschisis</td></tr><tr><td>645350</td><td>Segmental arterial mediolysis</td></tr><tr><td>645354</td><td>Saccular limited dorsal myeloschisis</td></tr><tr><td>645359</td><td>Intramedullary non-dysraphic spinal cord lipoma</td></tr><tr><td>645362</td><td>Dorsal spinal cord lipoma</td></tr><tr><td>645378</td><td>Myelic limited dorsal malformation</td></tr><tr><td>645383</td><td>True myelomeningocele</td></tr><tr><td>645388</td><td>Hemi-myelomeningocele</td></tr><tr><td>645393</td><td>Hemi-myeloschisis</td></tr><tr><td>645398</td><td>Myeloschisis</td></tr><tr><td>645401</td><td>True myeloschisis</td></tr><tr><td>64542</td><td>Acrofacial dysostosis, Kennedy-Teebi type</td></tr><tr><td>64545</td><td>Benign idiopathic neonatal seizures</td></tr><tr><td>645613</td><td>Classical dermatomyositis</td></tr><tr><td>645617</td><td>Amyopathic dermatomyositis</td></tr><tr><td>645626</td><td>Adermatopathic dermatomyositis</td></tr><tr><td>645749</td><td>Congenital esophageal stenosis</td></tr><tr><td>645793</td><td>Spontaneous intestinal perforation</td></tr><tr><td>645807</td><td>Primary tuberculous lymphadenitis</td></tr><tr><td>645814</td><td>Primary pulmonary tuberculosis</td></tr><tr><td>645822</td><td>Primary bone and joint tuberculosis</td></tr><tr><td>645849</td><td>Primary cutaneous tuberculosis</td></tr><tr><td>645854</td><td>Multifocal tuberculosis</td></tr><tr><td>645859</td><td>Primary tuberculosis of the digestive system</td></tr><tr><td>645874</td><td>Primary genito-urinary tuberculosis</td></tr><tr><td>646</td><td>Niemann-Pick disease type C</td></tr><tr><td>646113</td><td>Intermediate collagen VI-related muscular dystrophy</td></tr><tr><td>646136</td><td>Dysplastic cortical hyperostosis, Al-Gazali type</td></tr><tr><td>646139</td><td>Dysplastic cortical hyperostosis</td></tr><tr><td>646278</td><td>CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>64686</td><td>Tolosa-Hunt syndrome</td></tr><tr><td>64692</td><td>Oroya fever</td></tr><tr><td>64694</td><td>Trench fever</td></tr><tr><td>647</td><td>Nijmegen breakage syndrome</td></tr><tr><td>64720</td><td>Leiomyosarcoma</td></tr><tr><td>64722</td><td>Granulomatous mastitis</td></tr><tr><td>64734</td><td>Iridocorneal endothelial syndrome</td></tr><tr><td>64739</td><td>Ovarian hyperstimulation syndrome</td></tr><tr><td>64741</td><td>Pulmonary blastoma</td></tr><tr><td>64742</td><td>Pleuropulmonary blastoma</td></tr><tr><td>64743</td><td>Hepatoportal sclerosis</td></tr><tr><td>64744</td><td>IgG4-related thyroid disease</td></tr><tr><td>64745</td><td>Pruritic urticarial papules and plaques of pregnancy</td></tr><tr><td>64748</td><td>Dejerine-Sottas syndrome</td></tr><tr><td>64751</td><td>Hereditary motor and sensory neuropathy type 5</td></tr><tr><td>64752</td><td>Hereditary sensory and autonomic neuropathy type 5</td></tr><tr><td>64753</td><td>Spinocerebellar ataxia with axonal neuropathy type 2</td></tr><tr><td>64754</td><td>Nevus comedonicus syndrome</td></tr><tr><td>64755</td><td>Becker nevus syndrome</td></tr><tr><td>647667</td><td>Mandibuloacral dysplasia associated to MTX2</td></tr><tr><td>647676</td><td>Multiple epiphyseal dysplasia type 7</td></tr><tr><td>647681</td><td>Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome</td></tr><tr><td>647772</td><td>Isolated primary pigmented nodular adrenocortical disease</td></tr><tr><td>647782</td><td>Isolated micronodular adrenocortical disease</td></tr><tr><td>647788</td><td>Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome</td></tr><tr><td>647794</td><td>Isolated persistent urogenital sinus</td></tr><tr><td>647799</td><td>MYT1L-related developmental delay-intellectual disability-obesity syndrome</td></tr><tr><td>647804</td><td>Combined immunodeficiency due to FCHO1 deficiency</td></tr><tr><td>647811</td><td>Cardiac-urogenital syndrome</td></tr><tr><td>647815</td><td>Keratoendotheliitis fugax hereditaria</td></tr><tr><td>647823</td><td>Idiopathic pregnancy-associated osteoporosis</td></tr><tr><td>647834</td><td>SLC40A1-related hemochromatosis</td></tr><tr><td>647916</td><td>Conjoined twins</td></tr><tr><td>648</td><td>Noonan syndrome</td></tr><tr><td>648562</td><td>Ferroportin Disease</td></tr><tr><td>648581</td><td>Digenic hemochromatosis</td></tr><tr><td>648665</td><td>Infectious scleritis</td></tr><tr><td>648675</td><td>Idiopathic scleritis</td></tr><tr><td>648681</td><td>Immune-mediated scleritis</td></tr><tr><td>648684</td><td>Central retinal artery occlusion</td></tr><tr><td>648919</td><td>Idiopathic catatonia</td></tr><tr><td>648992</td><td>Non-syndromic bridging bronchus</td></tr><tr><td>649</td><td>Norrie disease</td></tr><tr><td>649010</td><td>Non-syndromic congenital bronchial atresia</td></tr><tr><td>649029</td><td>Isolated left bronchial isomerism</td></tr><tr><td>65</td><td>Leber congenital amaurosis</td></tr><tr><td>650</td><td>LCAT deficiency</td></tr><tr><td>650077</td><td>Genetic central precocious puberty in female</td></tr><tr><td>650082</td><td>Secondary central precocious puberty in female</td></tr><tr><td>650087</td><td>Primary central precocious puberty in male</td></tr><tr><td>650092</td><td>Secondary central precocious puberty in male</td></tr><tr><td>650097</td><td>Genetic central precocious puberty in male</td></tr><tr><td>650102</td><td>Non-genetic central precocious puberty in male</td></tr><tr><td>652</td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td>65250</td><td>Perineural cyst</td></tr><tr><td>65282</td><td>Carvajal syndrome</td></tr><tr><td>65283</td><td>Timothy syndrome</td></tr><tr><td>65284</td><td>Biotin-thiamine-responsive basal ganglia disease</td></tr><tr><td>65285</td><td>Lhermitte-Duclos disease</td></tr><tr><td>65286</td><td>3q29 microdeletion syndrome</td></tr><tr><td>65287</td><td>Beta-ureidopropionase deficiency</td></tr><tr><td>65288</td><td>Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome</td></tr><tr><td>653</td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td>654</td><td>Nephroblastoma</td></tr><tr><td>655</td><td>Nephronophthisis</td></tr><tr><td>656</td><td>Genetic steroid-resistant nephrotic syndrome</td></tr><tr><td>65681</td><td>Vaginal atresia</td></tr><tr><td>65682</td><td>Benign recurrent intrahepatic cholestasis</td></tr><tr><td>65683</td><td>Isolated focal cortical dysplasia</td></tr><tr><td>65684</td><td>Monomelic amyotrophy</td></tr><tr><td>65720</td><td>Arthrogryposis-severe scoliosis syndrome</td></tr><tr><td>65743</td><td>Autosomal dominant multiple pterygium syndrome</td></tr><tr><td>65748</td><td>Multiple self-healing squamous epithelioma</td></tr><tr><td>65759</td><td>Carpenter syndrome</td></tr><tr><td>65798</td><td>Goodman syndrome</td></tr><tr><td>659</td><td>Mutilating palmoplantar keratoderma with periorificial keratotic plaques</td></tr><tr><td>660</td><td>Omphalocele</td></tr><tr><td>661</td><td>Congenital central hypoventilation syndrome</td></tr><tr><td>662</td><td>Yellow nail syndrome</td></tr><tr><td>663</td><td>Mitochondrial DNA-related progressive external ophthalmoplegia</td></tr><tr><td>664</td><td>Ornithine transcarbamylase deficiency</td></tr><tr><td>66518</td><td>Short fifth metacarpals-insulin resistance syndrome</td></tr><tr><td>66529</td><td>Tako-Tsubo cardiomyopathy</td></tr><tr><td>666</td><td>Osteogenesis imperfecta</td></tr><tr><td>66624</td><td>PANDAS</td></tr><tr><td>66625</td><td>Cerebrooculonasal syndrome</td></tr><tr><td>66627</td><td>Tenosynovial giant cell tumor</td></tr><tr><td>66628</td><td>Obesity due to congenital leptin deficiency</td></tr><tr><td>66629</td><td>Goldberg-Shprintzen megacolon syndrome</td></tr><tr><td>66630</td><td>Congenital pseudoarthrosis of the clavicle</td></tr><tr><td>66631</td><td>CEDNIK syndrome</td></tr><tr><td>66633</td><td>Sensorineural hearing loss-early graying-essential tremor syndrome</td></tr><tr><td>66634</td><td>Dilated cardiomyopathy with ataxia</td></tr><tr><td>66637</td><td>Diaphanospondylodysostosis</td></tr><tr><td>66661</td><td>Mast cell sarcoma</td></tr><tr><td>66662</td><td>Extracutaneous mastocytoma</td></tr><tr><td>667</td><td>Autosomal recessive malignant osteopetrosis</td></tr><tr><td>668</td><td>Osteosarcoma</td></tr><tr><td>67</td><td>Amoebiasis due to Entamoeba histolytica</td></tr><tr><td>67036</td><td>Autosomal dominant optic atrophy and cataract</td></tr><tr><td>67038</td><td>B-cell chronic lymphocytic leukemia</td></tr><tr><td>67039</td><td>Segmental odontomaxillary dysplasia</td></tr><tr><td>67041</td><td>Hyaluronidase deficiency</td></tr><tr><td>67042</td><td>Late-onset retinal degeneration</td></tr><tr><td>67043</td><td>Amoebic keratitis</td></tr><tr><td>67044</td><td>Thrombocytopenia with congenital dyserythropoietic anemia</td></tr><tr><td>67045</td><td>X-linked intellectual disability with isolated growth hormone deficiency</td></tr><tr><td>67046</td><td>3-methylglutaconic aciduria type 1</td></tr><tr><td>67047</td><td>3-methylglutaconic aciduria type 3</td></tr><tr><td>67048</td><td>3-methylglutaconic aciduria type 4</td></tr><tr><td>672</td><td>Pallister-Hall syndrome</td></tr><tr><td>673</td><td>Malaria</td></tr><tr><td>674</td><td>Accessory pancreas</td></tr><tr><td>675</td><td>Annular pancreas</td></tr><tr><td>676</td><td>Hereditary chronic pancreatitis</td></tr><tr><td>677</td><td>Pancreatoblastoma</td></tr><tr><td>678</td><td>Papillon-Lefèvre syndrome</td></tr><tr><td>679</td><td>Malignant atrophic papulosis</td></tr><tr><td>68</td><td>Amoebiasis due to free-living amoebae</td></tr><tr><td>681</td><td>Hypokalemic periodic paralysis</td></tr><tr><td>682</td><td>Hyperkalemic periodic paralysis</td></tr><tr><td>683</td><td>Progressive supranuclear palsy</td></tr><tr><td>684</td><td>Paramyotonia congenita of Von Eulenburg</td></tr><tr><td>69061</td><td>Idiopathic steroid-sensitive nephrotic syndrome</td></tr><tr><td>69063</td><td>Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization</td></tr><tr><td>69076</td><td>Familial renal glucosuria</td></tr><tr><td>69077</td><td>Rhabdoid tumor</td></tr><tr><td>69078</td><td>Liposarcoma</td></tr><tr><td>69082</td><td>Odonto-tricho-ungual-digito-palmar syndrome</td></tr><tr><td>69083</td><td>Ectodermal dysplasia with natal teeth, Turnpenny type</td></tr><tr><td>69084</td><td>Pure hair and nail ectodermal dysplasia</td></tr><tr><td>69085</td><td>Limb-mammary syndrome</td></tr><tr><td>69087</td><td>Naegeli-Franceschetti-Jadassohn syndrome</td></tr><tr><td>69088</td><td>Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</td></tr><tr><td>69125</td><td>Anonychia with flexural pigmentation</td></tr><tr><td>69126</td><td>PAPA syndrome</td></tr><tr><td>69663</td><td>Low phospholipid-associated cholelithiasis</td></tr><tr><td>69665</td><td>Intrahepatic cholestasis of pregnancy</td></tr><tr><td>69723</td><td>Tyrosinemia type 3</td></tr><tr><td>69735</td><td>Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome</td></tr><tr><td>69736</td><td>Bilateral acute depigmentation of the iris</td></tr><tr><td>69737</td><td>Bosley-Salih-Alorainy syndrome</td></tr><tr><td>69739</td><td>Athabaskan brainstem dysgenesis syndrome</td></tr><tr><td>69744</td><td>Circumscribed palmoplantar hypokeratosis</td></tr><tr><td>69745</td><td>Warty dyskeratoma</td></tr><tr><td>699</td><td>Pearson syndrome</td></tr><tr><td>7</td><td>3C syndrome</td></tr><tr><td>70</td><td>Proximal spinal muscular atrophy</td></tr><tr><td>700</td><td>Alopecia totalis</td></tr><tr><td>701</td><td>Alopecia universalis</td></tr><tr><td>702</td><td>Pelizaeus-Merzbacher disease</td></tr><tr><td>703</td><td>Bullous pemphigoid</td></tr><tr><td>704</td><td>Pemphigus vulgaris</td></tr><tr><td>70472</td><td>Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</td></tr><tr><td>70475</td><td>Radiation proctitis</td></tr><tr><td>70476</td><td>Vernal keratoconjunctivitis</td></tr><tr><td>705</td><td>Pendred syndrome</td></tr><tr><td>70567</td><td>Cholangiocarcinoma</td></tr><tr><td>70568</td><td>Post-transplant lymphoproliferative disease</td></tr><tr><td>70573</td><td>Small cell lung cancer</td></tr><tr><td>70578</td><td>Adult acute respiratory distress syndrome</td></tr><tr><td>70587</td><td>Infant acute respiratory distress syndrome</td></tr><tr><td>70588</td><td>Meconium aspiration syndrome</td></tr><tr><td>70589</td><td>Bronchopulmonary dysplasia</td></tr><tr><td>70590</td><td>Infantile apnea</td></tr><tr><td>70591</td><td>Chronic thromboembolic pulmonary hypertension</td></tr><tr><td>70592</td><td>Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency</td></tr><tr><td>70593</td><td>Immunodeficiency due to selective anti-polysaccharide antibody deficiency</td></tr><tr><td>70594</td><td>Dopa-responsive dystonia due to sepiapterin reductase deficiency</td></tr><tr><td>70595</td><td>Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome</td></tr><tr><td>70596</td><td>Congenital Epstein-Barr virus infection</td></tr><tr><td>707</td><td>Plague</td></tr><tr><td>708</td><td>Peters anomaly</td></tr><tr><td>709</td><td>Peters plus syndrome</td></tr><tr><td>71</td><td>Chylomicron retention disease</td></tr><tr><td>710</td><td>Pfeiffer syndrome</td></tr><tr><td>712</td><td>Hemolytic anemia due to glucophosphate isomerase deficiency</td></tr><tr><td>71211</td><td>Neuromyelitis optica spectrum disorder</td></tr><tr><td>71212</td><td>Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency</td></tr><tr><td>71213</td><td>Retinal capillary malformation</td></tr><tr><td>71267</td><td>Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome</td></tr><tr><td>71271</td><td>Split hand-split foot-deafness syndrome</td></tr><tr><td>71272</td><td>Sandifer syndrome</td></tr><tr><td>71273</td><td>Renal nutcracker syndrome</td></tr><tr><td>71274</td><td>Disseminated peritoneal leiomyomatosis</td></tr><tr><td>71275</td><td>Rh deficiency syndrome</td></tr><tr><td>71276</td><td>Silent sinus syndrome</td></tr><tr><td>71277</td><td>Classic glucose transporter type 1 deficiency syndrome</td></tr><tr><td>71278</td><td>Congenital brain dysgenesis due to glutamine synthetase deficiency</td></tr><tr><td>71279</td><td>CANOMAD syndrome</td></tr><tr><td>71289</td><td>Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome</td></tr><tr><td>71290</td><td>Familial platelet disorder with associated myeloid malignancy</td></tr><tr><td>713</td><td>Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</td></tr><tr><td>714</td><td>Hemolytic anemia due to diphosphoglycerate mutase deficiency</td></tr><tr><td>71493</td><td>Familial thrombocytosis</td></tr><tr><td>715</td><td>Glycogen storage disease due to muscle phosphorylase kinase deficiency</td></tr><tr><td>71505</td><td>Cancer-associated retinopathy</td></tr><tr><td>71517</td><td>Rapid-onset dystonia-parkinsonism</td></tr><tr><td>71518</td><td>Benign paroxysmal torticollis of infancy</td></tr><tr><td>71519</td><td>Psychogenic movement disorders</td></tr><tr><td>71526</td><td>Obesity due to pro-opiomelanocortin deficiency</td></tr><tr><td>71528</td><td>Obesity due to prohormone convertase I deficiency</td></tr><tr><td>71529</td><td>Obesity due to melanocortin 4 receptor deficiency</td></tr><tr><td>716</td><td>Phenylketonuria</td></tr><tr><td>718</td><td>Isolated Pierre Robin syndrome</td></tr><tr><td>72</td><td>Angelman syndrome</td></tr><tr><td>720</td><td>Pili bifurcati</td></tr><tr><td>721</td><td>Gray platelet syndrome</td></tr><tr><td>722</td><td>Hypoplasminogenemia</td></tr><tr><td>723</td><td>Pneumocystosis</td></tr><tr><td>724</td><td>Idiopathic acute eosinophilic pneumonia</td></tr><tr><td>725</td><td>Continuous spikes and waves during sleep</td></tr><tr><td>726</td><td>Alpers-Huttenlocher syndrome</td></tr><tr><td>727</td><td>Microscopic polyangiitis</td></tr><tr><td>728</td><td>Relapsing polychondritis</td></tr><tr><td>729</td><td>Polycythemia vera</td></tr><tr><td>73</td><td>Gorham-Stout disease</td></tr><tr><td>730</td><td>Autosomal dominant polycystic kidney disease</td></tr><tr><td>731</td><td>Autosomal recessive polycystic kidney disease</td></tr><tr><td>732</td><td>Polymyositis</td></tr><tr><td>73223</td><td>Global developmental delay-osteopenia-ectodermal defect syndrome</td></tr><tr><td>73224</td><td>Kidney tubulopathy-dilated cardiomyopathy syndrome</td></tr><tr><td>73229</td><td>HANAC syndrome</td></tr><tr><td>73230</td><td>Ossification anomalies-psychomotor developmental delay syndrome</td></tr><tr><td>73245</td><td>Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome</td></tr><tr><td>73246</td><td>Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome</td></tr><tr><td>73256</td><td>Central neurocytoma</td></tr><tr><td>73260</td><td>Paracoccidioidomycosis</td></tr><tr><td>73263</td><td>Zygomycosis</td></tr><tr><td>73267</td><td>Non-24-hour sleep-wake syndrome</td></tr><tr><td>73271</td><td>Bleeding diathesis due to a collagen receptor defect</td></tr><tr><td>73272</td><td>Growth delay due to insulin-like growth factor type 1 deficiency</td></tr><tr><td>73273</td><td>Growth delay due to insulin-like growth factor I resistance</td></tr><tr><td>733</td><td>Familial adenomatous polyposis</td></tr><tr><td>734</td><td>Alpha delta granule deficiency</td></tr><tr><td>73423</td><td>Acute ackee fruit intoxication</td></tr><tr><td>735</td><td>Porokeratosis of Mibelli</td></tr><tr><td>737</td><td>Porokeratosis plantaris palmaris et disseminata</td></tr><tr><td>739</td><td>Prader-Willi syndrome</td></tr><tr><td>74</td><td>Angiostrongyliasis</td></tr><tr><td>740</td><td>Hutchinson-Gilford progeria syndrome</td></tr><tr><td>741</td><td>Familial mitral valve prolapse</td></tr><tr><td>742</td><td>Prolidase deficiency</td></tr><tr><td>743</td><td>Severe hereditary thrombophilia due to congenital protein S deficiency</td></tr><tr><td>744</td><td>Proteus syndrome</td></tr><tr><td>745</td><td>Severe hereditary thrombophilia due to congenital protein C deficiency</td></tr><tr><td>746</td><td>Mitochondrial trifunctional protein deficiency</td></tr><tr><td>747</td><td>Autoimmune pulmonary alveolar proteinosis</td></tr><tr><td>749</td><td>Congenital prekallikrein deficiency</td></tr><tr><td>750</td><td>Pseudoachondroplasia</td></tr><tr><td>752</td><td>46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency</td></tr><tr><td>75233</td><td>Wolman disease</td></tr><tr><td>75234</td><td>Cholesteryl ester storage disease</td></tr><tr><td>75249</td><td>Familial isolated restrictive cardiomyopathy</td></tr><tr><td>753</td><td>46,XY difference of sex development due to 5-alpha-reductase 2 deficiency</td></tr><tr><td>75325</td><td>Osteosclerosis-ichthyosis-premature ovarian failure syndrome</td></tr><tr><td>75326</td><td>Retinal arterial tortuosity</td></tr><tr><td>75327</td><td>North Carolina macular dystrophy</td></tr><tr><td>75373</td><td>Progressive bifocal chorioretinal atrophy</td></tr><tr><td>75374</td><td>Bradyopsia</td></tr><tr><td>75376</td><td>Familial drusen</td></tr><tr><td>75377</td><td>Central areolar choroidal dystrophy</td></tr><tr><td>75378</td><td>Oligocone trichromacy</td></tr><tr><td>75381</td><td>Cystoid macular dystrophy</td></tr><tr><td>75382</td><td>Oguchi disease</td></tr><tr><td>75389</td><td>Brain malformation-congenital heart disease-postaxial polydactyly syndrome</td></tr><tr><td>75391</td><td>Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</td></tr><tr><td>75392</td><td>Periodontal Ehlers-Danlos syndrome</td></tr><tr><td>75496</td><td>B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>75497</td><td>X-linked Ehlers-Danlos syndrome</td></tr><tr><td>755</td><td>Leydig cell hypoplasia</td></tr><tr><td>75508</td><td>Angioosteohypotrophic syndrome</td></tr><tr><td>75563</td><td>X-linked sideroblastic anemia</td></tr><tr><td>75564</td><td>Acquired idiopathic sideroblastic anemia</td></tr><tr><td>75565</td><td>Tropical endomyocardial fibrosis</td></tr><tr><td>75566</td><td>Loeffler endocarditis</td></tr><tr><td>75567</td><td>Primary progressive freezing gait</td></tr><tr><td>756</td><td>Pseudohypoaldosteronism type 1</td></tr><tr><td>757</td><td>Pseudohypoaldosteronism type 2</td></tr><tr><td>758</td><td>Pseudoxanthoma elasticum</td></tr><tr><td>75840</td><td>Congenital muscular dystrophy, Ullrich type</td></tr><tr><td>75857</td><td>6q terminal deletion syndrome</td></tr><tr><td>75858</td><td>MORM syndrome</td></tr><tr><td>76</td><td>Strongyloidiasis</td></tr><tr><td>760</td><td>Purine nucleoside phosphorylase deficiency</td></tr><tr><td>761</td><td>Immunoglobulin A vasculitis</td></tr><tr><td>763</td><td>Pycnodysostosis</td></tr><tr><td>764</td><td>Pyomyositis</td></tr><tr><td>765</td><td>Pyruvate dehydrogenase deficiency</td></tr><tr><td>766</td><td>Hemolytic anemia due to red cell pyruvate kinase deficiency</td></tr><tr><td>767</td><td>Polyarteritis nodosa</td></tr><tr><td>769</td><td>Rabson-Mendenhall syndrome</td></tr><tr><td>770</td><td>Rabies</td></tr><tr><td>772</td><td>Infantile Refsum disease</td></tr><tr><td>77258</td><td>Trichorhinophalangeal syndrome type 1</td></tr><tr><td>77259</td><td>Gaucher disease type 1</td></tr><tr><td>77260</td><td>Gaucher disease type 2</td></tr><tr><td>77261</td><td>Gaucher disease type 3</td></tr><tr><td>77292</td><td>Infantile neurovisceral acid sphingomyelinase deficiency</td></tr><tr><td>77293</td><td>Chronic visceral acid sphingomyelinase deficiency</td></tr><tr><td>77295</td><td>Odontoleukodystrophy</td></tr><tr><td>77296</td><td>Morgagni-Stewart-Morel syndrome</td></tr><tr><td>77297</td><td>Majeed syndrome</td></tr><tr><td>77298</td><td>Anophthalmia/microphthalmia-esophageal atresia syndrome</td></tr><tr><td>77299</td><td>Microphthalmia-brain atrophy syndrome</td></tr><tr><td>773</td><td>Refsum disease</td></tr><tr><td>77300</td><td>Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome</td></tr><tr><td>77301</td><td>Monosomy 9q22.3</td></tr><tr><td>774</td><td>Hereditary hemorrhagic telangiectasia</td></tr><tr><td>776</td><td>Lujan-Fryns syndrome</td></tr><tr><td>777</td><td>X-linked non-syndromic intellectual disability</td></tr><tr><td>778</td><td>Rett syndrome</td></tr><tr><td>779</td><td>Reynolds syndrome</td></tr><tr><td>78</td><td>Ankylostomiasis</td></tr><tr><td>780</td><td>Rhabdomyosarcoma</td></tr><tr><td>781</td><td>Q fever</td></tr><tr><td>782</td><td>Axenfeld-Rieger syndrome</td></tr><tr><td>783</td><td>Rubinstein-Taybi syndrome</td></tr><tr><td>785</td><td>Estrogen resistance syndrome</td></tr><tr><td>786</td><td>Generalized glucocorticoid resistance syndrome</td></tr><tr><td>79</td><td>Congenital alpha2-antiplasmin deficiency</td></tr><tr><td>790</td><td>Retinoblastoma</td></tr><tr><td>79076</td><td>Juvenile polyposis of infancy</td></tr><tr><td>79078</td><td>IgG4-related dacryoadenitis and sialadenitis</td></tr><tr><td>79083</td><td>PPARG-related familial partial lipodystrophy</td></tr><tr><td>79084</td><td>Familial partial lipodystrophy, Köbberling type</td></tr><tr><td>79085</td><td>AKT2-related familial partial lipodystrophy</td></tr><tr><td>79086</td><td>Acquired generalized lipodystrophy</td></tr><tr><td>79087</td><td>Acquired partial lipodystrophy</td></tr><tr><td>79091</td><td>Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome</td></tr><tr><td>79093</td><td>Foix-Alajouanine syndrome</td></tr><tr><td>79094</td><td>Grange syndrome</td></tr><tr><td>79095</td><td>Congenital bile acid synthesis defect type 4</td></tr><tr><td>79096</td><td>Pyridoxal phosphate-responsive seizures</td></tr><tr><td>79097</td><td>Folinic acid-responsive seizures</td></tr><tr><td>79098</td><td>Sympathetic ophthalmia</td></tr><tr><td>79099</td><td>Interstitial granulomatous dermatitis with arthritis</td></tr><tr><td>791</td><td>Retinitis pigmentosa</td></tr><tr><td>79100</td><td>Atrophoderma vermiculata</td></tr><tr><td>79101</td><td>Hyperprolinemia type 2</td></tr><tr><td>79102</td><td>Thyrotoxic periodic paralysis</td></tr><tr><td>79105</td><td>Myxofibrosarcoma</td></tr><tr><td>79106</td><td>Eiken syndrome</td></tr><tr><td>79107</td><td>Developmental malformations-deafness-dystonia syndrome</td></tr><tr><td>79113</td><td>Mandibulofacial dysostosis-microcephaly syndrome</td></tr><tr><td>79118</td><td>Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome</td></tr><tr><td>79124</td><td>Hepatic veno-occlusive disease-immunodeficiency syndrome</td></tr><tr><td>79126</td><td>Acute interstitial pneumonia</td></tr><tr><td>79127</td><td>Respiratory bronchiolitis-interstitial lung disease syndrome</td></tr><tr><td>79128</td><td>Lymphoid interstitial pneumonia</td></tr><tr><td>79129</td><td>Trichodysplasia-amelogenesis imperfecta syndrome</td></tr><tr><td>79133</td><td>Focal facial dermal dysplasia type I</td></tr><tr><td>79134</td><td>DEND syndrome</td></tr><tr><td>79135</td><td>Episodic ataxia type 3</td></tr><tr><td>79136</td><td>Episodic ataxia type 4</td></tr><tr><td>79137</td><td>Generalized epilepsy-paroxysmal dyskinesia syndrome</td></tr><tr><td>79138</td><td>Bickerstaff brainstem encephalitis</td></tr><tr><td>79139</td><td>Japanese encephalitis</td></tr><tr><td>79140</td><td>Cutaneous neuroendocrine carcinoma</td></tr><tr><td>79141</td><td>Hereditary painful callosities</td></tr><tr><td>79143</td><td>Isolated congenital anonychia</td></tr><tr><td>79144</td><td>Isolated congenital onychodysplasia</td></tr><tr><td>79145</td><td>Dowling-Degos disease</td></tr><tr><td>79146</td><td>Familial progressive hyperpigmentation</td></tr><tr><td>79147</td><td>Familial reactive perforating collagenosis</td></tr><tr><td>79148</td><td>Elastosis perforans serpiginosa</td></tr><tr><td>79149</td><td>Dermochondrocorneal dystrophy</td></tr><tr><td>79150</td><td>Linear and whorled nevoid hypermelanosis</td></tr><tr><td>79151</td><td>Acrokeratosis verruciformis of Hopf</td></tr><tr><td>79152</td><td>Disseminated superficial actinic porokeratosis</td></tr><tr><td>79153</td><td>Idiopathic trachyonychia</td></tr><tr><td>79154</td><td>2-aminoadipic 2-oxoadipic aciduria</td></tr><tr><td>79155</td><td>Hydroxykynureninuria</td></tr><tr><td>79156</td><td>Seizures-intellectual disability due to hydroxylysinuria syndrome</td></tr><tr><td>79157</td><td>2-methylbutyryl-CoA dehydrogenase deficiency</td></tr><tr><td>79159</td><td>Isobutyryl-CoA dehydrogenase deficiency</td></tr><tr><td>792</td><td>X-linked retinoschisis</td></tr><tr><td>79230</td><td>HJV or HAMP-related hemochromatosis</td></tr><tr><td>79233</td><td>Hypoxanthine guanine phosphoribosyltransferase partial deficiency</td></tr><tr><td>79234</td><td>Crigler-Najjar syndrome type 1</td></tr><tr><td>79235</td><td>Crigler-Najjar syndrome type 2</td></tr><tr><td>79237</td><td>Galactokinase deficiency</td></tr><tr><td>79238</td><td>Galactose epimerase deficiency</td></tr><tr><td>79239</td><td>Classic galactosemia</td></tr><tr><td>79240</td><td>Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency</td></tr><tr><td>79241</td><td>Biotinidase deficiency</td></tr><tr><td>79242</td><td>Holocarboxylase synthetase deficiency</td></tr><tr><td>79243</td><td>Pyruvate dehydrogenase E1-alpha deficiency</td></tr><tr><td>79244</td><td>Pyruvate dehydrogenase E2 deficiency</td></tr><tr><td>79246</td><td>Pyruvate dehydrogenase phosphatase deficiency</td></tr><tr><td>79253</td><td>Mild phenylketonuria</td></tr><tr><td>79254</td><td>Classic phenylketonuria</td></tr><tr><td>79255</td><td>GM1 gangliosidosis type 1</td></tr><tr><td>79256</td><td>GM1 gangliosidosis type 2</td></tr><tr><td>79257</td><td>GM1 gangliosidosis type 3</td></tr><tr><td>79258</td><td>Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia</td></tr><tr><td>79259</td><td>Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib</td></tr><tr><td>79262</td><td>Adult neuronal ceroid lipofuscinosis</td></tr><tr><td>79263</td><td>Infantile neuronal ceroid lipofuscinosis</td></tr><tr><td>79264</td><td>Juvenile neuronal ceroid lipofuscinosis</td></tr><tr><td>79269</td><td>Sanfilippo syndrome type A</td></tr><tr><td>79270</td><td>Sanfilippo syndrome type B</td></tr><tr><td>79271</td><td>Sanfilippo syndrome type C</td></tr><tr><td>79272</td><td>Sanfilippo syndrome type D</td></tr><tr><td>79273</td><td>Hereditary coproporphyria</td></tr><tr><td>79276</td><td>Acute intermittent porphyria</td></tr><tr><td>79277</td><td>Congenital erythropoietic porphyria</td></tr><tr><td>79278</td><td>Autosomal erythropoietic protoporphyria</td></tr><tr><td>79279</td><td>Alpha-N-acetylgalactosaminidase deficiency type 1</td></tr><tr><td>79280</td><td>Alpha-N-acetylgalactosaminidase deficiency type 2</td></tr><tr><td>79281</td><td>Alpha-N-acetylgalactosaminidase deficiency type 3</td></tr><tr><td>79282</td><td>Methylmalonic acidemia with homocystinuria, type cblC</td></tr><tr><td>79283</td><td>Methylmalonic acidemia with homocystinuria, type cblD</td></tr><tr><td>79284</td><td>Methylmalonic acidemia with homocystinuria type cblF</td></tr><tr><td>79292</td><td>Fish-eye disease</td></tr><tr><td>79293</td><td>Familial LCAT deficiency</td></tr><tr><td>79299</td><td>Congenital glucokinase-related hyperinsulinism</td></tr><tr><td>793</td><td>SAPHO syndrome</td></tr><tr><td>79301</td><td>Congenital bile acid synthesis defect type 1</td></tr><tr><td>79302</td><td>Congenital bile acid synthesis defect type 3</td></tr><tr><td>79303</td><td>Congenital bile acid synthesis defect type 2</td></tr><tr><td>79304</td><td>Progressive familial intrahepatic cholestasis type 2</td></tr><tr><td>79305</td><td>Progressive familial intrahepatic cholestasis type 3</td></tr><tr><td>79306</td><td>Progressive familial intrahepatic cholestasis type 1</td></tr><tr><td>79310</td><td>Vitamin B12-responsive methylmalonic acidemia type cblA</td></tr><tr><td>79311</td><td>Vitamin B12-responsive methylmalonic acidemia type cblB</td></tr><tr><td>79312</td><td>Vitamin B12-unresponsive methylmalonic acidemia type mut-</td></tr><tr><td>79314</td><td>L-2-hydroxyglutaric aciduria</td></tr><tr><td>79315</td><td>D-2-hydroxyglutaric aciduria</td></tr><tr><td>79318</td><td>PMM2-CDG</td></tr><tr><td>79319</td><td>MPI-CDG</td></tr><tr><td>79320</td><td>ALG6-CDG</td></tr><tr><td>79321</td><td>ALG3-CDG</td></tr><tr><td>79322</td><td>DPM1-CDG</td></tr><tr><td>79323</td><td>MPDU1-CDG</td></tr><tr><td>79324</td><td>ALG12-CDG</td></tr><tr><td>79325</td><td>ALG8-CDG</td></tr><tr><td>79326</td><td>ALG2-CDG</td></tr><tr><td>79327</td><td>ALG1-CDG</td></tr><tr><td>79328</td><td>ALG9-CDG</td></tr><tr><td>79329</td><td>MGAT2-CDG</td></tr><tr><td>79330</td><td>MOGS-CDG</td></tr><tr><td>79332</td><td>B4GALT1-CDG</td></tr><tr><td>79333</td><td>COG7-CDG</td></tr><tr><td>79345</td><td>Brachytelephalangic chondrodysplasia punctata</td></tr><tr><td>79346</td><td>Chondrodysplasia punctata, tibial-metacarpal type</td></tr><tr><td>79347</td><td>Chondrodysplasia punctata, Toriello type</td></tr><tr><td>79350</td><td>3-phosphoserine phosphatase deficiency, infantile/juvenile form</td></tr><tr><td>79351</td><td>3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form</td></tr><tr><td>79394</td><td>Congenital ichthyosiform erythroderma</td></tr><tr><td>79395</td><td>Keratoderma hereditarium mutilans with ichthyosis</td></tr><tr><td>79396</td><td>Autosomal dominant generalized epidermolysis bullosa simplex, severe form</td></tr><tr><td>79397</td><td>Epidermolysis bullosa simplex with mottled pigmentation</td></tr><tr><td>79399</td><td>Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form</td></tr><tr><td>794</td><td>Saethre-Chotzen syndrome</td></tr><tr><td>79400</td><td>Localized epidermolysis bullosa simplex</td></tr><tr><td>79401</td><td>PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement</td></tr><tr><td>79402</td><td>Intermediate generalized junctional epidermolysis bullosa</td></tr><tr><td>79403</td><td>Junctional epidermolysis bullosa with pyloric atresia</td></tr><tr><td>79404</td><td>Severe generalized junctional epidermolysis bullosa</td></tr><tr><td>79405</td><td>Junctional epidermolysis bullosa inversa</td></tr><tr><td>79406</td><td>Late-onset junctional epidermolysis bullosa</td></tr><tr><td>79408</td><td>Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form</td></tr><tr><td>79409</td><td>Recessive dystrophic epidermolysis bullosa inversa</td></tr><tr><td>79410</td><td>Localized dystrophic epidermolysis bullosa, pretibial form</td></tr><tr><td>79411</td><td>Self-improving dystrophic epidermolysis bullosa</td></tr><tr><td>79414</td><td>Woolly hair nevus</td></tr><tr><td>79430</td><td>Hermansky-Pudlak syndrome</td></tr><tr><td>79431</td><td>Oculocutaneous albinism type 1A</td></tr><tr><td>79432</td><td>Oculocutaneous albinism type 2</td></tr><tr><td>79433</td><td>Oculocutaneous albinism type 3</td></tr><tr><td>79434</td><td>Oculocutaneous albinism type 1B</td></tr><tr><td>79435</td><td>Oculocutaneous albinism type 4</td></tr><tr><td>79443</td><td>Pseudohypoparathyroidism type 1A</td></tr><tr><td>79444</td><td>Pseudohypoparathyroidism type 1C</td></tr><tr><td>79445</td><td>Pseudopseudohypoparathyroidism</td></tr><tr><td>79447</td><td>X-linked lethal multiple pterygium syndrome</td></tr><tr><td>79452</td><td>Milroy disease</td></tr><tr><td>79455</td><td>Cutaneous mastocytoma</td></tr><tr><td>79456</td><td>Diffuse cutaneous mastocytosis</td></tr><tr><td>79457</td><td>Maculopapular cutaneous mastocytosis</td></tr><tr><td>79466</td><td>Inflammatory linear verrucous epidermal nevus</td></tr><tr><td>79467</td><td>Verrucous nevus</td></tr><tr><td>79468</td><td>Acanthokeratolytic verrucous nevus</td></tr><tr><td>79473</td><td>Porphyria variegata</td></tr><tr><td>79474</td><td>Atypical Werner syndrome</td></tr><tr><td>79476</td><td>Griscelli syndrome type 1</td></tr><tr><td>79477</td><td>Griscelli syndrome type 2</td></tr><tr><td>79478</td><td>Griscelli syndrome type 3</td></tr><tr><td>79479</td><td>Pemphigus vegetans</td></tr><tr><td>79480</td><td>Pemphigus erythematosus</td></tr><tr><td>79481</td><td>Pemphigus foliaceus</td></tr><tr><td>79483</td><td>Phakomatosis cesioflammea</td></tr><tr><td>79484</td><td>Phakomatosis cesiomarmorata</td></tr><tr><td>79485</td><td>Phakomatosis spilorosea</td></tr><tr><td>79489</td><td>Macrocystic lymphatic malformation</td></tr><tr><td>79490</td><td>Microcystic lymphatic malformation</td></tr><tr><td>79492</td><td>Pili gemini</td></tr><tr><td>79493</td><td>Brooke-Spiegler syndrome</td></tr><tr><td>79495</td><td>X-linked congenital generalized hypertrichosis</td></tr><tr><td>79499</td><td>Autosomal dominant deafness-onychodystrophy syndrome</td></tr><tr><td>79500</td><td>DOORS syndrome</td></tr><tr><td>79501</td><td>Punctate palmoplantar keratoderma type 1</td></tr><tr><td>79502</td><td>Punctate palmoplantar keratoderma type 2</td></tr><tr><td>79503</td><td>Ichthyosis hystrix of Curth-Macklin</td></tr><tr><td>79506</td><td>Cholesterol-ester transfer protein deficiency</td></tr><tr><td>79507</td><td>Hypotonia-failure to thrive-microcephaly syndrome</td></tr><tr><td>796</td><td>Sandhoff disease</td></tr><tr><td>79643</td><td>Autosomal recessive hyperinsulinism due to SUR1 deficiency</td></tr><tr><td>79644</td><td>Autosomal recessive hyperinsulinism due to Kir6.2 deficiency</td></tr><tr><td>79651</td><td>Mild hyperphenylalaninemia</td></tr><tr><td>79665</td><td>Gardner syndrome</td></tr><tr><td>797</td><td>Sarcoidosis</td></tr><tr><td>798</td><td>Schinzel-Giedion syndrome</td></tr><tr><td>799</td><td>Schizencephaly</td></tr><tr><td>8</td><td>47,XYY syndrome</td></tr><tr><td>80</td><td>Antiphospholipid syndrome</td></tr><tr><td>800</td><td>Schwartz-Jampel syndrome</td></tr><tr><td>803</td><td>Amyotrophic lateral sclerosis</td></tr><tr><td>805</td><td>Tuberous sclerosis complex</td></tr><tr><td>806</td><td>Scott syndrome</td></tr><tr><td>808</td><td>Seckel syndrome</td></tr><tr><td>809</td><td>Mixed connective tissue disease</td></tr><tr><td>81</td><td>Antisynthetase syndrome</td></tr><tr><td>810</td><td>Shigellosis</td></tr><tr><td>811</td><td>Shwachman-Diamond syndrome</td></tr><tr><td>812</td><td>Sialidosis type 1</td></tr><tr><td>813</td><td>Silver-Russell syndrome</td></tr><tr><td>816</td><td>Sjögren-Larsson syndrome</td></tr><tr><td>818</td><td>Smith-Lemli-Opitz syndrome</td></tr><tr><td>819</td><td>Smith-Magenis syndrome</td></tr><tr><td>82</td><td>Hereditary thrombophilia due to congenital antithrombin deficiency</td></tr><tr><td>820</td><td>Sneddon syndrome</td></tr><tr><td>821</td><td>Sotos syndrome</td></tr><tr><td>822</td><td>Hereditary spherocytosis</td></tr><tr><td>824</td><td>Primary myelofibrosis</td></tr><tr><td>826</td><td>Sporotrichosis</td></tr><tr><td>827</td><td>Stargardt disease</td></tr><tr><td>828</td><td>Stickler syndrome</td></tr><tr><td>829</td><td>Adult-onset Still disease</td></tr><tr><td>83</td><td>Antley-Bixler syndrome</td></tr><tr><td>831</td><td>Congenital cervical spinal stenosis</td></tr><tr><td>832</td><td>Succinyl-CoA:3-oxoacid CoA transferase deficiency</td></tr><tr><td>833</td><td>Encephalopathy due to sulfite oxidase deficiency</td></tr><tr><td>83311</td><td>Rocky Mountain spotted fever</td></tr><tr><td>83312</td><td>Rickettsialpox</td></tr><tr><td>83313</td><td>Boutonneuse fever</td></tr><tr><td>83314</td><td>Epidemic typhus</td></tr><tr><td>83315</td><td>Murine typhus</td></tr><tr><td>83316</td><td>Pseudotyphus of California</td></tr><tr><td>83317</td><td>Scrub typhus</td></tr><tr><td>83330</td><td>Proximal spinal muscular atrophy type 1</td></tr><tr><td>834</td><td>Free sialic acid storage disease</td></tr><tr><td>83418</td><td>Proximal spinal muscular atrophy type 2</td></tr><tr><td>83419</td><td>Proximal spinal muscular atrophy type 3</td></tr><tr><td>83420</td><td>Proximal spinal muscular atrophy type 4</td></tr><tr><td>83450</td><td>Regional odontodysplasia</td></tr><tr><td>83451</td><td>Florid cemento-osseous dysplasia</td></tr><tr><td>83452</td><td>Complex regional pain syndrome</td></tr><tr><td>83453</td><td>Vulvovaginal gingival syndrome</td></tr><tr><td>83454</td><td>Glomuvenous malformation</td></tr><tr><td>83461</td><td>Congenital primary aphakia</td></tr><tr><td>83463</td><td>Microtia</td></tr><tr><td>83465</td><td>Narcolepsy type 2</td></tr><tr><td>83467</td><td>Morvan syndrome</td></tr><tr><td>83468</td><td>Solitary bone cyst</td></tr><tr><td>83469</td><td>Desmoplastic small round cell tumor</td></tr><tr><td>83471</td><td>T-cell immunodeficiency with thymic aplasia</td></tr><tr><td>83472</td><td>CAMOS syndrome</td></tr><tr><td>83473</td><td>Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome</td></tr><tr><td>83476</td><td>West-Nile encephalitis</td></tr><tr><td>83482</td><td>Mycoplasma encephalitis</td></tr><tr><td>83483</td><td>La Crosse encephalitis</td></tr><tr><td>83484</td><td>St. Louis encephalitis</td></tr><tr><td>83593</td><td>Western equine encephalitis</td></tr><tr><td>83594</td><td>Eastern equine encephalitis</td></tr><tr><td>83595</td><td>Colorado tick fever</td></tr><tr><td>83597</td><td>Acute disseminated encephalomyelitis</td></tr><tr><td>83600</td><td>Encephalitis lethargica</td></tr><tr><td>83601</td><td>Steroid-responsive encephalopathy associated with autoimmune thyroiditis</td></tr><tr><td>83616</td><td>Rubella panencephalitis</td></tr><tr><td>83617</td><td>Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome</td></tr><tr><td>83619</td><td>Macrostomia-preauricular tags-external ophthalmoplegia syndrome</td></tr><tr><td>83620</td><td>Enteric anendocrinosis</td></tr><tr><td>83628</td><td>LUMBAR syndrome</td></tr><tr><td>83629</td><td>Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome</td></tr><tr><td>83639</td><td>Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency</td></tr><tr><td>83642</td><td>Microcytic anemia with liver iron overload</td></tr><tr><td>838</td><td>Susac syndrome</td></tr><tr><td>839</td><td>Congenital nephrotic syndrome, Finnish type</td></tr><tr><td>84</td><td>Fanconi anemia</td></tr><tr><td>840</td><td>Syringocystadenoma papilliferum</td></tr><tr><td>84064</td><td>Syndromic diarrhea</td></tr><tr><td>84065</td><td>Idiopathic malabsorption due to bile acid synthesis defects</td></tr><tr><td>84081</td><td>Senior-Boichis syndrome</td></tr><tr><td>84085</td><td>Hinman syndrome</td></tr><tr><td>84087</td><td>Collagen type III glomerulopathy</td></tr><tr><td>84090</td><td>Fibronectin glomerulopathy</td></tr><tr><td>84093</td><td>Hereditary thermosensitive neuropathy</td></tr><tr><td>841</td><td>Sebocystomatosis</td></tr><tr><td>84132</td><td>Desmin-related myopathy with Mallory body-like inclusions</td></tr><tr><td>84142</td><td>Isaacs syndrome</td></tr><tr><td>842</td><td>Testicular seminomatous germ cell tumor</td></tr><tr><td>844</td><td>Lown-Ganong-Levine syndrome</td></tr><tr><td>845</td><td>Tay-Sachs disease</td></tr><tr><td>846</td><td>Alpha-thalassemia</td></tr><tr><td>847</td><td>Alpha-thalassemia-X-linked intellectual disability syndrome</td></tr><tr><td>848</td><td>Beta-thalassemia</td></tr><tr><td>849</td><td>Glanzmann thrombasthenia</td></tr><tr><td>851</td><td>Paris-Trousseau thrombocytopenia</td></tr><tr><td>85110</td><td>Familial encephalopathy with neuroserpin inclusion bodies</td></tr><tr><td>85112</td><td>Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome</td></tr><tr><td>85128</td><td>Bothnia retinal dystrophy</td></tr><tr><td>85136</td><td>Cystic leukoencephalopathy without megalencephaly</td></tr><tr><td>85138</td><td>Addison disease</td></tr><tr><td>85146</td><td>Neurogenic scapuloperoneal syndrome, Kaeser type</td></tr><tr><td>85162</td><td>Facial onset sensory and motor neuronopathy</td></tr><tr><td>85163</td><td>Hypomyelination-congenital cataract syndrome</td></tr><tr><td>85164</td><td>Camptodactyly-tall stature-scoliosis-hearing loss syndrome</td></tr><tr><td>85165</td><td>Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</td></tr><tr><td>85166</td><td>Platyspondylic dysplasia, Torrance type</td></tr><tr><td>85167</td><td>Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome</td></tr><tr><td>85168</td><td>Craniofacial conodysplasia</td></tr><tr><td>85169</td><td>Familial digital arthropathy-brachydactyly</td></tr><tr><td>85170</td><td>Mesomelic dysplasia, Savarirayan type</td></tr><tr><td>85172</td><td>Microcephalic osteodysplastic dysplasia, Saul-Wilson type</td></tr><tr><td>85173</td><td>IMAGe syndrome</td></tr><tr><td>85174</td><td>Pseudodiastrophic dysplasia</td></tr><tr><td>85175</td><td>Astley-Kendall dysplasia</td></tr><tr><td>85179</td><td>Infantile osteopetrosis with neuroaxonal dysplasia</td></tr><tr><td>85182</td><td>Diaphyseal medullary stenosis-bone malignancy syndrome</td></tr><tr><td>85184</td><td>Craniometadiaphyseal dysplasia, wormian bone type</td></tr><tr><td>85186</td><td>Endosteal sclerosis-cerebellar hypoplasia syndrome</td></tr><tr><td>85188</td><td>Metaphyseal dysplasia, Braun-Tinschert type</td></tr><tr><td>85191</td><td>Singleton-Merten dysplasia</td></tr><tr><td>85192</td><td>Calvarial doughnut lesions-bone fragility syndrome</td></tr><tr><td>85193</td><td>Idiopathic juvenile osteoporosis</td></tr><tr><td>85194</td><td>Spondylo-ocular syndrome</td></tr><tr><td>85195</td><td>Familial expansile osteolysis</td></tr><tr><td>85197</td><td>Genochondromatosis type 1</td></tr><tr><td>85198</td><td>Dysspondyloenchondromatosis</td></tr><tr><td>85199</td><td>Craniosynostosis-anal anomalies-porokeratosis syndrome</td></tr><tr><td>852</td><td>X-linked thrombocytopenia with normal platelets</td></tr><tr><td>85200</td><td>Ischiovertebral syndrome</td></tr><tr><td>85201</td><td>Genitopatellar syndrome</td></tr><tr><td>85202</td><td>Keutel syndrome</td></tr><tr><td>85203</td><td>Acropectoral syndrome</td></tr><tr><td>85212</td><td>Fetal Gaucher disease</td></tr><tr><td>85273</td><td>X-linked intellectual disability, Abidi type</td></tr><tr><td>85274</td><td>Syndromic X-linked intellectual disability 7</td></tr><tr><td>85275</td><td>Microphthalmia-ankyloblepharon-intellectual disability syndrome</td></tr><tr><td>85276</td><td>X-linked intellectual disability, Armfield type</td></tr><tr><td>85277</td><td>X-linked intellectual disability, Cantagrel type</td></tr><tr><td>85278</td><td>Christianson syndrome</td></tr><tr><td>85279</td><td>KDM5C-related syndromic X-linked intellectual disability</td></tr><tr><td>85280</td><td>X-linked intellectual disability-cubitus valgus-dysmorphism syndrome</td></tr><tr><td>85282</td><td>MEHMO syndrome</td></tr><tr><td>85283</td><td>X-linked intellectual disability, Miles-Carpenter type</td></tr><tr><td>85284</td><td>BRESEK syndrome</td></tr><tr><td>85285</td><td>X-linked intellectual disability, Schimke type</td></tr><tr><td>85286</td><td>X-linked intellectual disability, Shashi type</td></tr><tr><td>85287</td><td>X-linked intellectual disability, Siderius type</td></tr><tr><td>85288</td><td>X-linked intellectual disability, Stocco Dos Santos type</td></tr><tr><td>85290</td><td>X-linked intellectual disability, Wilson type</td></tr><tr><td>85292</td><td>X-linked spinocerebellar ataxia type 4</td></tr><tr><td>85293</td><td>X-linked intellectual disability, Cabezas type</td></tr><tr><td>85294</td><td>X-linked epilepsy-learning disabilities-behavior disorders syndrome</td></tr><tr><td>85295</td><td>HSD10 disease, atypical type</td></tr><tr><td>85297</td><td>X-linked spinocerebellar ataxia type 3</td></tr><tr><td>853</td><td>Fetal and neonatal alloimmune thrombocytopenia</td></tr><tr><td>85317</td><td>X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome</td></tr><tr><td>85319</td><td>X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome</td></tr><tr><td>85320</td><td>X-linked intellectual disability-macrocephaly-macroorchidism syndrome</td></tr><tr><td>85321</td><td>Deafness-intellectual disability syndrome, Martin-Probst type</td></tr><tr><td>85322</td><td>X-linked intellectual disability, Pai type</td></tr><tr><td>85323</td><td>X-linked intellectual disability, Seemanova type</td></tr><tr><td>85324</td><td>X-linked intellectual disability, Shrimpton type</td></tr><tr><td>85325</td><td>X-linked intellectual disability, Stevenson type</td></tr><tr><td>85326</td><td>X-linked intellectual disability, Stoll type</td></tr><tr><td>85327</td><td>X-linked intellectual disability-acromegaly-hyperactivity syndrome</td></tr><tr><td>85329</td><td>X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome</td></tr><tr><td>85332</td><td>X-linked intellectual disability-retinitis pigmentosa syndrome</td></tr><tr><td>85334</td><td>X-linked neurodegenerative syndrome, Bertini type</td></tr><tr><td>85335</td><td>Fried syndrome</td></tr><tr><td>85336</td><td>X-linked neurodegenerative syndrome, Hamel type</td></tr><tr><td>85338</td><td>X-linked intellectual disability-ataxia-apraxia syndrome</td></tr><tr><td>854</td><td>Primitive portal vein thrombosis</td></tr><tr><td>85408</td><td>Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis</td></tr><tr><td>85410</td><td>Oligoarticular juvenile idiopathic arthritis</td></tr><tr><td>85414</td><td>Systemic-onset juvenile idiopathic arthritis</td></tr><tr><td>85435</td><td>Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis</td></tr><tr><td>85436</td><td>Psoriasis-related juvenile idiopathic arthritis</td></tr><tr><td>85438</td><td>Enthesitis-related juvenile idiopathic arthritis</td></tr><tr><td>85442</td><td>Short stature-pituitary and cerebellar defects-small sella turcica syndrome</td></tr><tr><td>85443</td><td>AL amyloidosis</td></tr><tr><td>85445</td><td>AA amyloidosis</td></tr><tr><td>85446</td><td>Wild type ABeta2M amyloidosis</td></tr><tr><td>85447</td><td>ATTRV30M amyloidosis</td></tr><tr><td>85448</td><td>AGel amyloidosis</td></tr><tr><td>85450</td><td>Hereditary amyloidosis with primary renal involvement</td></tr><tr><td>85451</td><td>ATTRV122I amyloidosis</td></tr><tr><td>85453</td><td>X-linked reticulate pigmentary disorder</td></tr><tr><td>85458</td><td>Hereditary cerebral hemorrhage with amyloidosis</td></tr><tr><td>857</td><td>Townes-Brocks syndrome</td></tr><tr><td>858</td><td>Congenital toxoplasmosis</td></tr><tr><td>859</td><td>Transcobalamin deficiency</td></tr><tr><td>86</td><td>Familial abdominal aortic aneurysm</td></tr><tr><td>860</td><td>Congenitally uncorrected transposition of the great arteries</td></tr><tr><td>861</td><td>Treacher-Collins syndrome</td></tr><tr><td>863</td><td>Trichinellosis</td></tr><tr><td>86309</td><td>DPAGT1-CDG</td></tr><tr><td>864</td><td>Trichofolliculoma</td></tr><tr><td>867</td><td>Familial multiple trichoepithelioma</td></tr><tr><td>86788</td><td>X-linked severe congenital neutropenia</td></tr><tr><td>86789</td><td>Patella aplasia/hypoplasia</td></tr><tr><td>86797</td><td>Atypical lichen myxedematosus</td></tr><tr><td>868</td><td>Triose phosphate-isomerase deficiency</td></tr><tr><td>86812</td><td>POMT1-related limb-girdle muscular dystrophy R11</td></tr><tr><td>86813</td><td>Helicoid peripapillary chorioretinal degeneration</td></tr><tr><td>86814</td><td>Benign adult familial myoclonic epilepsy</td></tr><tr><td>86815</td><td>Aplasia of lacrimal and salivary glands</td></tr><tr><td>86816</td><td>Congenital analbuminemia</td></tr><tr><td>86817</td><td>Hemolytic anemia due to adenylate kinase deficiency</td></tr><tr><td>86818</td><td>Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome</td></tr><tr><td>86819</td><td>Atrichia with papular lesions</td></tr><tr><td>86820</td><td>Familial avascular necrosis of femoral head</td></tr><tr><td>86821</td><td>Lissencephaly type 3-familial fetal akinesia sequence syndrome</td></tr><tr><td>86822</td><td>Lissencephaly type 3-metacarpal bone dysplasia syndrome</td></tr><tr><td>86829</td><td>Chronic neutrophilic leukemia</td></tr><tr><td>86830</td><td>Chronic myeloproliferative disease, unclassifiable</td></tr><tr><td>86834</td><td>Juvenile myelomonocytic leukemia</td></tr><tr><td>86839</td><td>Refractory anemia with excess blasts</td></tr><tr><td>86841</td><td>Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality</td></tr><tr><td>86843</td><td>Acute panmyelosis with myelofibrosis</td></tr><tr><td>86845</td><td>Acute myeloid leukaemia with myelodysplasia-related features</td></tr><tr><td>86849</td><td>Acute basophilic leukemia</td></tr><tr><td>86850</td><td>Myeloid sarcoma</td></tr><tr><td>86852</td><td>B-cell prolymphocytic leukemia</td></tr><tr><td>86854</td><td>Splenic marginal zone lymphoma</td></tr><tr><td>86855</td><td>Plasmacytoma</td></tr><tr><td>86861</td><td>Non-amyloid monoclonal immunoglobulin deposition disease</td></tr><tr><td>86864</td><td>Heavy chain disease</td></tr><tr><td>86867</td><td>Nodal marginal zone B-cell lymphoma</td></tr><tr><td>86869</td><td>Lymphomatoid granulomatosis</td></tr><tr><td>86870</td><td>Blastic plasmacytoid dendritic cell neoplasm</td></tr><tr><td>86871</td><td>T-cell prolymphocytic leukemia</td></tr><tr><td>86872</td><td>T-cell large granular lymphocyte leukemia</td></tr><tr><td>86873</td><td>Aggressive NK-cell leukemia</td></tr><tr><td>86875</td><td>Adult T-cell leukemia/lymphoma</td></tr><tr><td>86879</td><td>Extranodal nasal NK/T cell lymphoma</td></tr><tr><td>86880</td><td>Enteropathy-associated T-cell lymphoma</td></tr><tr><td>86882</td><td>Hepatosplenic T-cell lymphoma</td></tr><tr><td>86884</td><td>Subcutaneous panniculitis-like T-cell lymphoma</td></tr><tr><td>86885</td><td>Primary cutaneous peripheral T-cell lymphoma not otherwise specified</td></tr><tr><td>86886</td><td>Angioimmunoblastic T-cell lymphoma</td></tr><tr><td>86893</td><td>Nodular lymphocyte predominant Hodgkin lymphoma</td></tr><tr><td>86896</td><td>Histiocytic sarcoma</td></tr><tr><td>86897</td><td>Langerhans cell sarcoma</td></tr><tr><td>869</td><td>Triple A syndrome</td></tr><tr><td>86900</td><td>Interdigitating dendritic cell sarcoma</td></tr><tr><td>86902</td><td>Follicular dendritic cell sarcoma</td></tr><tr><td>86903</td><td>Dendritic cell sarcoma not otherwise specified</td></tr><tr><td>86904</td><td>Methotrexate-associated lymphoproliferative disorders</td></tr><tr><td>86906</td><td>Hypothalamic hamartomas with gelastic seizures</td></tr><tr><td>86908</td><td>Idiopathic hemiconvulsion-hemiplegia syndrome</td></tr><tr><td>86909</td><td>Myoclonic epilepsy of infancy</td></tr><tr><td>86911</td><td>Epilepsy with myoclonic absences</td></tr><tr><td>86913</td><td>Myoclonic epilepsy in non-progressive encephalopathies</td></tr><tr><td>86914</td><td>Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome</td></tr><tr><td>86915</td><td>Lymphedema-atrial septal defects-facial changes syndrome</td></tr><tr><td>86918</td><td>Diffuse palmoplantar keratoderma-acrocyanosis syndrome</td></tr><tr><td>86919</td><td>Keratosis palmaris et plantaris-clinodactyly syndrome</td></tr><tr><td>86920</td><td>Dermatopathia pigmentosa reticularis</td></tr><tr><td>86923</td><td>Hereditary palmoplantar keratoderma, Gamborg-Nielsen type</td></tr><tr><td>87</td><td>Apert syndrome</td></tr><tr><td>870</td><td>Down syndrome</td></tr><tr><td>871</td><td>Familial progressive cardiac conduction defect</td></tr><tr><td>873</td><td>Desmoid tumor</td></tr><tr><td>874</td><td>Primary adult heart tumor</td></tr><tr><td>875</td><td>Primary pediatric heart tumor</td></tr><tr><td>87503</td><td>Mal de Meleda</td></tr><tr><td>876</td><td>Yolk sac tumor</td></tr><tr><td>87876</td><td>Sialidosis type 2</td></tr><tr><td>87884</td><td>Non-syndromic genetic deafness</td></tr><tr><td>879</td><td>Tungiasis</td></tr><tr><td>88</td><td>Idiopathic aplastic anemia</td></tr><tr><td>881</td><td>Turner syndrome</td></tr><tr><td>882</td><td>Tyrosinemia type 1</td></tr><tr><td>883</td><td>Extragonadal teratoma</td></tr><tr><td>884</td><td>Tetrasomy 12p</td></tr><tr><td>886</td><td>Usher syndrome</td></tr><tr><td>88616</td><td>Autosomal recessive non-syndromic intellectual disability</td></tr><tr><td>88618</td><td>S-adenosylhomocysteine hydrolase deficiency</td></tr><tr><td>88619</td><td>Familial acute necrotizing encephalopathy</td></tr><tr><td>88620</td><td>Isolated congenital anosmia</td></tr><tr><td>88621</td><td>Ichthyosis-prematurity syndrome</td></tr><tr><td>88628</td><td>Posterior column ataxia-retinitis pigmentosa syndrome</td></tr><tr><td>88629</td><td>Tritanopia</td></tr><tr><td>88630</td><td>Terminal osseous dysplasia-pigmentary defects syndrome</td></tr><tr><td>88633</td><td>Superior limbic keratoconjunctivitis</td></tr><tr><td>88635</td><td>Vacuolar myopathy with sarcoplasmic reticulum protein aggregates</td></tr><tr><td>88637</td><td>Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome</td></tr><tr><td>88639</td><td>Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency</td></tr><tr><td>88642</td><td>Congenital insensitivity to pain-anosmia-neuropathic arthropathy</td></tr><tr><td>88643</td><td>Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome</td></tr><tr><td>88644</td><td>Autosomal recessive ataxia, Beauce type</td></tr><tr><td>88659</td><td>Autosomal dominant progressive nephropathy with hypertension</td></tr><tr><td>88660</td><td>Hypertension due to gain-of-function mutations in the mineralocorticoid receptor</td></tr><tr><td>88661</td><td>Amelogenesis imperfecta</td></tr><tr><td>887</td><td>VACTERL/VATER association</td></tr><tr><td>888</td><td>Van der Woude syndrome</td></tr><tr><td>889</td><td>Cutaneous small vessel vasculitis</td></tr><tr><td>88917</td><td>X-linked Alport syndrome</td></tr><tr><td>88918</td><td>Autosomal dominant Alport syndrome</td></tr><tr><td>88919</td><td>Autosomal recessive Alport syndrome</td></tr><tr><td>88924</td><td>Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</td></tr><tr><td>88938</td><td>Pseudohypoaldosteronism type 2A</td></tr><tr><td>88939</td><td>Pseudohypoaldosteronism type 2B</td></tr><tr><td>88940</td><td>Pseudohypoaldosteronism type 2C</td></tr><tr><td>88949</td><td>MUC1-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>88950</td><td>UMOD-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>890</td><td>Hepatic veno-occlusive disease</td></tr><tr><td>891</td><td>Familial exudative vitreoretinopathy</td></tr><tr><td>892</td><td>Von Hippel-Lindau disease</td></tr><tr><td>893</td><td>WAGR syndrome</td></tr><tr><td>894</td><td>Waardenburg syndrome type 1</td></tr><tr><td>895</td><td>Waardenburg syndrome type 2</td></tr><tr><td>896</td><td>Waardenburg syndrome type 3</td></tr><tr><td>897</td><td>Waardenburg-Shah syndrome</td></tr><tr><td>898</td><td>Wagner disease</td></tr><tr><td>89838</td><td>Autosomal recessive generalized epidermolysis bullosa simplex</td></tr><tr><td>89842</td><td>Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form</td></tr><tr><td>89843</td><td>Dystrophic epidermolysis bullosa pruriginosa</td></tr><tr><td>89844</td><td>Lissencephaly syndrome, Norman-Roberts type</td></tr><tr><td>899</td><td>Walker-Warburg syndrome</td></tr><tr><td>89936</td><td>X-linked hypophosphatemia</td></tr><tr><td>89937</td><td>Autosomal dominant hypophosphatemic rickets</td></tr><tr><td>89938</td><td>Bartter syndrome type 4</td></tr><tr><td>9</td><td>Tetrasomy X</td></tr><tr><td>90</td><td>Argininemia</td></tr><tr><td>900</td><td>Granulomatosis with polyangiitis</td></tr><tr><td>90000</td><td>Erythema elevatum diutinum</td></tr><tr><td>90001</td><td>X-linked cone dysfunction syndrome with myopia</td></tr><tr><td>90002</td><td>Undifferentiated connective tissue syndrome</td></tr><tr><td>90003</td><td>Inflammatory pseudotumor of the liver</td></tr><tr><td>90020</td><td>Parkinson-dementia complex of Guam</td></tr><tr><td>90021</td><td>Radiation myelitis</td></tr><tr><td>90023</td><td>Primary immunodeficiency syndrome due to LAMTOR2 deficiency</td></tr><tr><td>90024</td><td>Deafness with labyrinthine aplasia, microtia, and microdontia</td></tr><tr><td>90026</td><td>Primary erythromelalgia</td></tr><tr><td>90030</td><td>Hemolytic anemia due to glutathione reductase deficiency</td></tr><tr><td>90031</td><td>Non-spherocytic hemolytic anemia due to hexokinase deficiency</td></tr><tr><td>90033</td><td>Autoimmune hemolytic anemia, warm type</td></tr><tr><td>90035</td><td>Paroxysmal cold hemoglobinuria</td></tr><tr><td>90036</td><td>Mixed-type autoimmune hemolytic anemia</td></tr><tr><td>90037</td><td>Drug-induced autoimmune hemolytic anemia</td></tr><tr><td>90038</td><td>Shiga toxin-associated hemolytic uremic syndrome</td></tr><tr><td>90039</td><td>Hemoglobin D disease</td></tr><tr><td>90041</td><td>Gaisböck syndrome</td></tr><tr><td>90042</td><td>Primary familial polycythemia</td></tr><tr><td>90044</td><td>Familial pseudohyperkalemia</td></tr><tr><td>90045</td><td>Hereditary folate malabsorption</td></tr><tr><td>90050</td><td>Retinopathy of prematurity</td></tr><tr><td>90051</td><td>Sepsis in premature infants</td></tr><tr><td>90052</td><td>Recurrent hepatitis C virus induced liver disease in liver transplant recipients</td></tr><tr><td>90053</td><td>Complications after hematopoietic stem cell transplantation</td></tr><tr><td>90056</td><td>Moderate and severe traumatic brain injury</td></tr><tr><td>90058</td><td>Spinal cord injury</td></tr><tr><td>90059</td><td>Sudden sensorineural hearing loss</td></tr><tr><td>90060</td><td>Diffuse alveolar hemorrhage</td></tr><tr><td>90062</td><td>Acute liver failure</td></tr><tr><td>90064</td><td>Acute peripheral arterial occlusion</td></tr><tr><td>90065</td><td>Acquired aneurysmal subarachnoid hemorrhage</td></tr><tr><td>90066</td><td>Pneumonia caused by Pseudomonas aeruginosa infection</td></tr><tr><td>90068</td><td>Cocaine intoxication</td></tr><tr><td>90069</td><td>Systemic monochloroacetate poisoning</td></tr><tr><td>90073</td><td>Hepatitis B reinfection following liver transplantation</td></tr><tr><td>90076</td><td>Partial deep dermal and full thickness burns</td></tr><tr><td>90078</td><td>Invasive infections due to vancomycin-resistant enterococci</td></tr><tr><td>90080</td><td>Scarring in glaucoma filtration surgical procedures</td></tr><tr><td>90081</td><td>AIDS wasting syndrome</td></tr><tr><td>901</td><td>Wells syndrome</td></tr><tr><td>90103</td><td>Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome</td></tr><tr><td>90117</td><td>Hereditary motor and sensory neuropathy, Okinawa type</td></tr><tr><td>90118</td><td>Severe early-onset axonal neuropathy due to MFN2 deficiency</td></tr><tr><td>90119</td><td>Hereditary motor and sensory neuropathy with acrodystrophy</td></tr><tr><td>90120</td><td>Hereditary motor and sensory neuropathy type 6</td></tr><tr><td>90153</td><td>Mandibuloacral dysplasia with type A lipodystrophy</td></tr><tr><td>90154</td><td>Mandibuloacral dysplasia with type B lipodystrophy</td></tr><tr><td>90156</td><td>Centrifugal lipodystrophy</td></tr><tr><td>90157</td><td>Drug-induced localized lipodystrophy</td></tr><tr><td>90158</td><td>Idiopathic localized lipodystrophy</td></tr><tr><td>90159</td><td>Panniculitis-induced localized lipodystrophy</td></tr><tr><td>90160</td><td>Pressure-induced localized lipoatrophy</td></tr><tr><td>90186</td><td>Meige disease</td></tr><tr><td>902</td><td>Werner syndrome</td></tr><tr><td>90280</td><td>Chilblain lupus</td></tr><tr><td>90281</td><td>Discoid lupus erythematosus</td></tr><tr><td>90282</td><td>Hypertrophic or verrucous lupus erythematosus</td></tr><tr><td>90283</td><td>Lupus erythematosus tumidus</td></tr><tr><td>90285</td><td>Lupus erythematosus panniculitis</td></tr><tr><td>90289</td><td>Localized scleroderma</td></tr><tr><td>90291</td><td>Systemic sclerosis</td></tr><tr><td>903</td><td>Von Willebrand disease</td></tr><tr><td>90301</td><td>Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome</td></tr><tr><td>90307</td><td>Parkes Weber syndrome</td></tr><tr><td>90308</td><td>Klippel-Trénaunay syndrome</td></tr><tr><td>90321</td><td>Cockayne syndrome type 1</td></tr><tr><td>90322</td><td>Cockayne syndrome type 2</td></tr><tr><td>90324</td><td>Cockayne syndrome type 3</td></tr><tr><td>90340</td><td>Blau syndrome</td></tr><tr><td>90342</td><td>Xeroderma pigmentosum variant</td></tr><tr><td>90348</td><td>Autosomal dominant cutis laxa</td></tr><tr><td>90349</td><td>Autosomal recessive cutis laxa type 1</td></tr><tr><td>90354</td><td>Brittle cornea syndrome</td></tr><tr><td>90362</td><td>Primary intestinal lymphangiectasia</td></tr><tr><td>90363</td><td>Secondary intestinal lymphangiectasia</td></tr><tr><td>90368</td><td>Hypotrichosis simplex of the scalp</td></tr><tr><td>90389</td><td>Telangiectasia macularis eruptiva perstans</td></tr><tr><td>90390</td><td>Anonychia-onychodystrophy syndrome</td></tr><tr><td>90393</td><td>Nodular lichen myxedematosus</td></tr><tr><td>90394</td><td>Discrete papular lichen myxedematosus</td></tr><tr><td>90395</td><td>Papular mucinosis of infancy</td></tr><tr><td>90396</td><td>Acral persistent papular mucinosis</td></tr><tr><td>90397</td><td>Self-healing papular mucinosis</td></tr><tr><td>90398</td><td>Localized lichen myxedematosus with mixed features of different subtypes</td></tr><tr><td>90399</td><td>Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms</td></tr><tr><td>904</td><td>Williams syndrome</td></tr><tr><td>90400</td><td>Scleromyxedema without monoclonal gammopathy</td></tr><tr><td>905</td><td>Wilson disease</td></tr><tr><td>906</td><td>Wiskott-Aldrich syndrome</td></tr><tr><td>90625</td><td>Rare X-linked non-syndromic sensorineural deafness type DFN</td></tr><tr><td>90635</td><td>Rare autosomal dominant non-syndromic sensorineural deafness type DFNA</td></tr><tr><td>90636</td><td>Rare autosomal recessive non-syndromic sensorineural deafness type DFNB</td></tr><tr><td>90641</td><td>Rare mitochondrial non-syndromic sensorineural deafness</td></tr><tr><td>90646</td><td>Deafness-hypogonadism syndrome</td></tr><tr><td>90647</td><td>Jervell and Lange-Nielsen syndrome</td></tr><tr><td>90650</td><td>Otopalatodigital syndrome type 1</td></tr><tr><td>90652</td><td>Otopalatodigital syndrome type 2</td></tr><tr><td>90653</td><td>Stickler syndrome type 1</td></tr><tr><td>90654</td><td>Stickler syndrome type 2</td></tr><tr><td>90658</td><td>Charcot-Marie-Tooth disease type 1E</td></tr><tr><td>90673</td><td>Hypothyroidism due to TSH receptor mutations</td></tr><tr><td>90674</td><td>Isolated thyroid-stimulating hormone deficiency</td></tr><tr><td>90695</td><td>Non-acquired panhypopituitarism</td></tr><tr><td>90790</td><td>Congenital lipoid adrenal hyperplasia due to STAR deficency</td></tr><tr><td>90791</td><td>Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency</td></tr><tr><td>90793</td><td>Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency</td></tr><tr><td>90794</td><td>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</td></tr><tr><td>90795</td><td>Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency</td></tr><tr><td>90796</td><td>46,XY difference of sex development due to isolated 17,20-lyase deficiency</td></tr><tr><td>90797</td><td>Partial androgen insensitivity syndrome</td></tr><tr><td>908</td><td>Fragile X syndrome</td></tr><tr><td>909</td><td>Cerebrotendinous xanthomatosis</td></tr><tr><td>91</td><td>Aromatase deficiency</td></tr><tr><td>910</td><td>Xeroderma pigmentosum</td></tr><tr><td>911</td><td>Combined immunodeficiency due to ZAP70 deficiency</td></tr><tr><td>91127</td><td>Adenovirus infection in immunocompromised patients</td></tr><tr><td>91130</td><td>Cardiomyopathy-hypotonia-lactic acidosis syndrome</td></tr><tr><td>91131</td><td>DK1-CDG</td></tr><tr><td>91132</td><td>Ichthyosis-hypotrichosis syndrome</td></tr><tr><td>91135</td><td>Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency</td></tr><tr><td>91136</td><td>Acquired monoclonal Ig light chain-associated Fanconi syndrome</td></tr><tr><td>91138</td><td>Cryoglobulinemic vasculitis</td></tr><tr><td>91139</td><td>Simple cryoglobulinemia</td></tr><tr><td>91140</td><td>Unspecified juvenile idiopathic arthritis</td></tr><tr><td>912</td><td>Zellweger syndrome</td></tr><tr><td>913</td><td>Zollinger-Ellison syndrome</td></tr><tr><td>91347</td><td>TSH-secreting pituitary adenoma</td></tr><tr><td>91348</td><td>Functioning gonadotropic adenoma</td></tr><tr><td>91349</td><td>Non-functioning pituitary adenoma</td></tr><tr><td>91350</td><td>Pituitary deficiency due to Rathke cleft cysts</td></tr><tr><td>91351</td><td>Pituitary dermoid and epidermoid cysts</td></tr><tr><td>91352</td><td>Germinoma of the central nervous system</td></tr><tr><td>91354</td><td>Pituitary deficiency due to empty sella turcica syndrome</td></tr><tr><td>91355</td><td>Sheehan syndrome</td></tr><tr><td>91358</td><td>Congenital esophageal diverticulum</td></tr><tr><td>91359</td><td>Chronic pneumonitis of infancy</td></tr><tr><td>91364</td><td>Non-specific interstitial pneumonia</td></tr><tr><td>91387</td><td>Familial thoracic aortic aneurysm and aortic dissection</td></tr><tr><td>91396</td><td>Isolated cryptophthalmia</td></tr><tr><td>91397</td><td>Isolated ankyloblepharon filiforme adnatum</td></tr><tr><td>91411</td><td>Congenital ptosis</td></tr><tr><td>91412</td><td>Marcus-Gunn syndrome</td></tr><tr><td>91413</td><td>Congenital Horner syndrome</td></tr><tr><td>91414</td><td>Pilomatrixoma</td></tr><tr><td>91416</td><td>Isolated congenital alacrima</td></tr><tr><td>91481</td><td>Ring dermoid of cornea</td></tr><tr><td>91483</td><td>Rieger anomaly</td></tr><tr><td>91489</td><td>Isolated congenital megalocornea</td></tr><tr><td>91490</td><td>Isolated congenital sclerocornea</td></tr><tr><td>91491</td><td>Congenital ectropion uveae</td></tr><tr><td>91492</td><td>Early-onset non-syndromic cataract</td></tr><tr><td>91494</td><td>Macular coloboma-cleft palate-hallux valgus syndrome</td></tr><tr><td>91495</td><td>Persistent hyperplastic primary vitreous</td></tr><tr><td>91496</td><td>Snowflake vitreoretinal degeneration</td></tr><tr><td>91498</td><td>Familial congenital palsy of trochlear nerve</td></tr><tr><td>915</td><td>Aarskog-Scott syndrome</td></tr><tr><td>91500</td><td>Tubulointerstitial nephritis and uveitis syndrome</td></tr><tr><td>91546</td><td>Lyme disease</td></tr><tr><td>91547</td><td>Relapsing fever</td></tr><tr><td>916</td><td>Aase-Smith syndrome</td></tr><tr><td>920</td><td>Ablepharon macrostomia syndrome</td></tr><tr><td>92050</td><td>Congenital tufting enteropathy</td></tr><tr><td>921</td><td>Abruzzo-Erickson syndrome</td></tr><tr><td>922</td><td>Familial nasal acilia</td></tr><tr><td>926</td><td>Acatalasemia</td></tr><tr><td>927</td><td>Hyperammonemia due to N-acetylglutamate synthase deficiency</td></tr><tr><td>929</td><td>Achalasia-microcephaly syndrome</td></tr><tr><td>93</td><td>Aspartylglucosaminuria</td></tr><tr><td>930</td><td>Idiopathic achalasia</td></tr><tr><td>931</td><td>Acheiropodia</td></tr><tr><td>93100</td><td>Renal agenesis, unilateral</td></tr><tr><td>93101</td><td>Renal hypoplasia</td></tr><tr><td>93108</td><td>Renal dysplasia</td></tr><tr><td>93109</td><td>Congenital megacalycosis</td></tr><tr><td>93110</td><td>Posterior urethral valve</td></tr><tr><td>93111</td><td>HNF1B-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>93114</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type E</td></tr><tr><td>93126</td><td>Pauci-immune glomerulonephritis</td></tr><tr><td>93160</td><td>Hypocalcemic vitamin D-resistant rickets</td></tr><tr><td>93164</td><td>Transient pseudohypoaldosteronism</td></tr><tr><td>93172</td><td>Renal dysplasia, unilateral</td></tr><tr><td>93173</td><td>Renal dysplasia, bilateral</td></tr><tr><td>93176</td><td>Unilateral congenital megacalycosis</td></tr><tr><td>93177</td><td>Congenital bilateral megacalycosis</td></tr><tr><td>932</td><td>Achondrogenesis</td></tr><tr><td>93256</td><td>Fragile X-associated tremor/ataxia syndrome</td></tr><tr><td>93258</td><td>Pfeiffer syndrome type 1</td></tr><tr><td>93259</td><td>Pfeiffer syndrome type 2</td></tr><tr><td>93260</td><td>Pfeiffer syndrome type 3</td></tr><tr><td>93262</td><td>Crouzon syndrome-acanthosis nigricans syndrome</td></tr><tr><td>93267</td><td>Cloverleaf skull-multiple congenital anomalies syndrome</td></tr><tr><td>93268</td><td>Short rib-polydactyly syndrome, Beemer-Langer type</td></tr><tr><td>93269</td><td>Short rib-polydactyly syndrome, Majewski type</td></tr><tr><td>93270</td><td>Short rib-polydactyly syndrome, Saldino-Noonan type</td></tr><tr><td>93271</td><td>Short rib-polydactyly syndrome, Verma-Naumoff type</td></tr><tr><td>93274</td><td>Thanatophoric dysplasia type 2</td></tr><tr><td>93276</td><td>Polyostotic fibrous dysplasia</td></tr><tr><td>93277</td><td>Monostotic fibrous dysplasia</td></tr><tr><td>93279</td><td>Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis</td></tr><tr><td>93282</td><td>Spondyloepimetaphyseal dysplasia, PAPSS2 type</td></tr><tr><td>93283</td><td>Spondyloepiphyseal dysplasia, Kimberley type</td></tr><tr><td>93284</td><td>Spondyloepiphyseal dysplasia tarda</td></tr><tr><td>93292</td><td>Adenoma of pancreas</td></tr><tr><td>93293</td><td>Okihiro syndrome</td></tr><tr><td>93296</td><td>Achondrogenesis type 2</td></tr><tr><td>93297</td><td>Hypochondrogenesis</td></tr><tr><td>93298</td><td>Achondrogenesis type 1B</td></tr><tr><td>93299</td><td>Achondrogenesis type 1A</td></tr><tr><td>93302</td><td>Brachyolmia, Maroteaux type</td></tr><tr><td>93304</td><td>Autosomal dominant brachyolmia</td></tr><tr><td>93307</td><td>Multiple epiphyseal dysplasia type 4</td></tr><tr><td>93308</td><td>Multiple epiphyseal dysplasia type 1</td></tr><tr><td>93311</td><td>Multiple epiphyseal dysplasia type 5</td></tr><tr><td>93314</td><td>Spondylometaphyseal dysplasia, Kozlowski type</td></tr><tr><td>93315</td><td>Spondylometaphyseal dysplasia, 'corner fracture' type</td></tr><tr><td>93316</td><td>Spondylometaphyseal dysplasia, Schmidt type</td></tr><tr><td>93317</td><td>Spondylometaphyseal dysplasia, Sedaghatian type</td></tr><tr><td>93320</td><td>Ulnar hemimelia</td></tr><tr><td>93321</td><td>Radial hemimelia</td></tr><tr><td>93322</td><td>Tibial hemimelia</td></tr><tr><td>93323</td><td>Fibular hemimelia</td></tr><tr><td>93324</td><td>Autosomal recessive Kenny-Caffey syndrome</td></tr><tr><td>93325</td><td>Autosomal dominant Kenny-Caffey syndrome</td></tr><tr><td>93328</td><td>Autosomal dominant omodysplasia</td></tr><tr><td>93329</td><td>Autosomal recessive omodysplasia</td></tr><tr><td>93333</td><td>Pelviscapular dysplasia</td></tr><tr><td>93334</td><td>Postaxial polydactyly type A</td></tr><tr><td>93335</td><td>Postaxial polydactyly type B</td></tr><tr><td>93336</td><td>Polydactyly of a triphalangeal thumb</td></tr><tr><td>93337</td><td>Polydactyly of an index finger</td></tr><tr><td>93338</td><td>Polysyndactyly</td></tr><tr><td>93339</td><td>Polydactyly of a biphalangeal thumb and/or hallux</td></tr><tr><td>93346</td><td>Spondyloepimetaphyseal dysplasia congenita, Strudwick type</td></tr><tr><td>93347</td><td>Anauxetic dysplasia</td></tr><tr><td>93349</td><td>X-linked spondyloepimetaphyseal dysplasia</td></tr><tr><td>93351</td><td>Spondyloepimetaphyseal dysplasia, Irapa type</td></tr><tr><td>93352</td><td>Spondyloepimetaphyseal dysplasia, Shohat type</td></tr><tr><td>93356</td><td>Spondyloepimetaphyseal dysplasia, Missouri type</td></tr><tr><td>93357</td><td>SPONASTRIME dysplasia</td></tr><tr><td>93358</td><td>Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</td></tr><tr><td>93360</td><td>Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type</td></tr><tr><td>93372</td><td>Familial hypocalciuric hypercalcemia type 1</td></tr><tr><td>93382</td><td>Brachydactyly type A6</td></tr><tr><td>93383</td><td>Brachydactyly type B</td></tr><tr><td>93384</td><td>Brachydactyly type C</td></tr><tr><td>93387</td><td>Brachydactyly type E</td></tr><tr><td>93388</td><td>Brachydactyly type A1</td></tr><tr><td>93394</td><td>Brachydactyly type A4</td></tr><tr><td>93396</td><td>Brachydactyly type A2</td></tr><tr><td>93397</td><td>Brachydactyly type A7</td></tr><tr><td>93398</td><td>Genochondromatosis type 2</td></tr><tr><td>93399</td><td>Juvenile sialidosis type 2</td></tr><tr><td>93400</td><td>Congenital sialidosis type 2</td></tr><tr><td>93402</td><td>Syndactyly type 1</td></tr><tr><td>93403</td><td>Syndactyly type 2</td></tr><tr><td>93404</td><td>Syndactyly type 3</td></tr><tr><td>93405</td><td>Syndactyly type 4</td></tr><tr><td>93406</td><td>Syndactyly type 5</td></tr><tr><td>93409</td><td>Brachydactyly-syndactyly, Zhao type</td></tr><tr><td>93473</td><td>Hurler syndrome</td></tr><tr><td>93474</td><td>Scheie syndrome</td></tr><tr><td>93476</td><td>Hurler-Scheie syndrome</td></tr><tr><td>935</td><td>Short-limb skeletal dysplasia with severe combined immunodeficiency</td></tr><tr><td>93552</td><td>Pediatric systemic lupus erythematosus</td></tr><tr><td>93554</td><td>Mixed cryoglobulinemia type II</td></tr><tr><td>93555</td><td>Mixed cryoglobulinemia type III</td></tr><tr><td>93556</td><td>Heavy chain deposition disease</td></tr><tr><td>93557</td><td>Light and heavy chain deposition disease</td></tr><tr><td>93558</td><td>Light chain deposition disease</td></tr><tr><td>93560</td><td>AApoAI amyloidosis</td></tr><tr><td>93561</td><td>ALys amyloidosis</td></tr><tr><td>93562</td><td>AFib amyloidosis</td></tr><tr><td>93568</td><td>Juvenile polymyositis</td></tr><tr><td>93569</td><td>Polymyalgia rheumatica</td></tr><tr><td>93571</td><td>Dense deposit disease</td></tr><tr><td>93581</td><td>Atypical hemolytic uremic syndrome with anti-factor H antibodies</td></tr><tr><td>93583</td><td>Congenital thrombotic thrombocytopenic purpura</td></tr><tr><td>93585</td><td>Immune-mediated thrombotic thrombocytopenic purpura</td></tr><tr><td>93589</td><td>Late-onset nephronophthisis</td></tr><tr><td>93591</td><td>Infantile nephronophthisis</td></tr><tr><td>93592</td><td>Juvenile nephronophthisis</td></tr><tr><td>93598</td><td>Primary hyperoxaluria type 1</td></tr><tr><td>93599</td><td>Primary hyperoxaluria type 2</td></tr><tr><td>93600</td><td>Primary hyperoxaluria type 3</td></tr><tr><td>93601</td><td>Xanthinuria type I</td></tr><tr><td>93602</td><td>Xanthinuria type II</td></tr><tr><td>93605</td><td>Bartter syndrome type 3</td></tr><tr><td>93606</td><td>Nephrogenic syndrome of inappropriate antidiuresis</td></tr><tr><td>93607</td><td>Autosomal recessive proximal renal tubular acidosis</td></tr><tr><td>93608</td><td>Autosomal dominant distal renal tubular acidosis</td></tr><tr><td>93610</td><td>Distal renal tubular acidosis with anemia</td></tr><tr><td>93612</td><td>Cystinuria type A</td></tr><tr><td>93613</td><td>Cystinuria type B</td></tr><tr><td>93616</td><td>Hemoglobin H disease</td></tr><tr><td>93622</td><td>Dent disease type 1</td></tr><tr><td>93623</td><td>Dent disease type 2</td></tr><tr><td>93672</td><td>Juvenile dermatomyositis</td></tr><tr><td>93685</td><td>Unicentric Castleman disease</td></tr><tr><td>939</td><td>3-hydroxyisobutyric aciduria</td></tr><tr><td>93921</td><td>Full schwannomatosis</td></tr><tr><td>93924</td><td>Lobar holoprosencephaly</td></tr><tr><td>93925</td><td>Alobar holoprosencephaly</td></tr><tr><td>93926</td><td>Midline interhemispheric variant of holoprosencephaly</td></tr><tr><td>93928</td><td>Isolated epispadias</td></tr><tr><td>93929</td><td>Cloacal exstrophy</td></tr><tr><td>93930</td><td>Bladder exstrophy</td></tr><tr><td>93932</td><td>FG syndrome type 1</td></tr><tr><td>93938</td><td>Laryngotracheoesophageal cleft type 1</td></tr><tr><td>93939</td><td>Laryngotracheoesophageal cleft type 2</td></tr><tr><td>93940</td><td>Laryngotracheoesophageal cleft type 3</td></tr><tr><td>93941</td><td>Laryngotracheoesophageal cleft type 4</td></tr><tr><td>93945</td><td>X-linked intellectual disability, Porteous type</td></tr><tr><td>93946</td><td>Hamel cerebro-palato-cardiac syndrome</td></tr><tr><td>93947</td><td>X-linked intellectual disability, Golabi-Ito-Hall type</td></tr><tr><td>93950</td><td>X-linked intellectual disability, Sutherland-Haan type</td></tr><tr><td>93952</td><td>X-linked intellectual disability, Hedera type</td></tr><tr><td>93953</td><td>Familial thyroglossal duct cyst</td></tr><tr><td>93958</td><td>Oromandibular dystonia</td></tr><tr><td>93964</td><td>Blepharospasm-oromandibular dystonia syndrome</td></tr><tr><td>93969</td><td>Open spinal dysraphism with a myelomeningocele</td></tr><tr><td>93976</td><td>Anotia</td></tr><tr><td>94056</td><td>Humero-ulnar synostosis</td></tr><tr><td>94058</td><td>Neovascular glaucoma</td></tr><tr><td>94059</td><td>Uremic pruritus</td></tr><tr><td>94063</td><td>12q14 microdeletion syndrome</td></tr><tr><td>94064</td><td>Deafness-infertility syndrome</td></tr><tr><td>94065</td><td>15q24 microdeletion syndrome</td></tr><tr><td>94066</td><td>Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia</td></tr><tr><td>94068</td><td>Spondyloepiphyseal dysplasia congenita</td></tr><tr><td>94080</td><td>Non-functioning paraganglioma</td></tr><tr><td>94083</td><td>Partington syndrome</td></tr><tr><td>94086</td><td>Blue diaper syndrome</td></tr><tr><td>94087</td><td>Cytophagic histiocytic panniculitis</td></tr><tr><td>94088</td><td>Hereditary renal hypouricemia</td></tr><tr><td>94089</td><td>Pseudohypoparathyroidism type 1B</td></tr><tr><td>94090</td><td>Pseudohypoparathyroidism type 2</td></tr><tr><td>94091</td><td>Mills syndrome</td></tr><tr><td>94093</td><td>Neuroleptic malignant syndrome</td></tr><tr><td>941</td><td>D-glyceric aciduria</td></tr><tr><td>94122</td><td>Cerebellar ataxia, Cayman type</td></tr><tr><td>94124</td><td>Spinocerebellar ataxia with axonal neuropathy type 1</td></tr><tr><td>94125</td><td>Recessive mitochondrial ataxia syndrome</td></tr><tr><td>94147</td><td>Spinocerebellar ataxia type 7</td></tr><tr><td>94150</td><td>Anonychia congenita totalis</td></tr><tr><td>943</td><td>Malonic aciduria</td></tr><tr><td>945</td><td>Acalvaria</td></tr><tr><td>949</td><td>Acrocraniofacial dysostosis</td></tr><tr><td>95</td><td>Friedreich ataxia</td></tr><tr><td>950</td><td>Acrodysostosis</td></tr><tr><td>95159</td><td>Hepatoerythropoietic porphyria</td></tr><tr><td>952</td><td>Acrofacial dysostosis, Weyers type</td></tr><tr><td>95232</td><td>Lissencephaly due to LIS1 mutation</td></tr><tr><td>95409</td><td>Acute adrenal insufficiency</td></tr><tr><td>95427</td><td>Secondary short bowel syndrome</td></tr><tr><td>95428</td><td>COG8-CDG</td></tr><tr><td>95429</td><td>Angioma serpiginosum</td></tr><tr><td>95430</td><td>Congenital tracheomalacia</td></tr><tr><td>95431</td><td>Twin to twin transfusion syndrome</td></tr><tr><td>95433</td><td>Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome</td></tr><tr><td>95434</td><td>Autosomal recessive cerebellar ataxia-movement disorder syndrome</td></tr><tr><td>95443</td><td>Mesocardia</td></tr><tr><td>95448</td><td>Congenital aortic valve atresia</td></tr><tr><td>95455</td><td>Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum</td></tr><tr><td>95457</td><td>Tricuspid valve agenesis</td></tr><tr><td>95459</td><td>Congenital tricuspid stenosis</td></tr><tr><td>95461</td><td>Straddling or overriding tricuspid valve</td></tr><tr><td>95462</td><td>Accessory tricuspid valve tissue</td></tr><tr><td>95465</td><td>Cleft mitral valve</td></tr><tr><td>95474</td><td>Double-orifice mitral valve</td></tr><tr><td>95486</td><td>Premature closure of the arterial duct</td></tr><tr><td>95491</td><td>Congenital coronary artery aneurysm</td></tr><tr><td>95494</td><td>Combined pituitary hormone deficiencies, genetic forms</td></tr><tr><td>95496</td><td>Pituitary stalk interruption syndrome</td></tr><tr><td>955</td><td>Hajdu-Cheney syndrome</td></tr><tr><td>95507</td><td>Congenital anomaly of hepatic vein</td></tr><tr><td>95512</td><td>Adenohypophysitis</td></tr><tr><td>95513</td><td>Panhypophysitis</td></tr><tr><td>95613</td><td>Pituitary apoplexy</td></tr><tr><td>95619</td><td>Post-traumatic pituitary deficiency</td></tr><tr><td>95626</td><td>Acquired central diabetes insipidus</td></tr><tr><td>95699</td><td>Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</td></tr><tr><td>957</td><td>Acropectorovertebral dysplasia</td></tr><tr><td>95700</td><td>Familial adrenal hypoplasia with absent pituitary luteinizing hormone</td></tr><tr><td>95702</td><td>X-linked adrenal hypoplasia congenita</td></tr><tr><td>95706</td><td>Non-syndromic posterior hypospadias</td></tr><tr><td>95707</td><td>Idiopathic isolated micropenis</td></tr><tr><td>95712</td><td>Thyroid ectopia</td></tr><tr><td>95713</td><td>Athyreosis</td></tr><tr><td>95715</td><td>Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies</td></tr><tr><td>95716</td><td>Familial thyroid dyshormonogenesis</td></tr><tr><td>95717</td><td>Idiopathic congenital hypothyroidism</td></tr><tr><td>95719</td><td>Thyroid hemiagenesis</td></tr><tr><td>95720</td><td>Thyroid hypoplasia</td></tr><tr><td>958</td><td>Acro-renal-mandibular syndrome</td></tr><tr><td>95854</td><td>Levocardia</td></tr><tr><td>959</td><td>Acro-renal-ocular syndrome</td></tr><tr><td>96</td><td>Ataxia with vitamin E deficiency</td></tr><tr><td>96055</td><td>Tetrasomy 21</td></tr><tr><td>96059</td><td>Mosaic trisomy 4</td></tr><tr><td>96060</td><td>Mosaic trisomy 5</td></tr><tr><td>96061</td><td>Mosaic trisomy 8</td></tr><tr><td>96063</td><td>Mosaic trisomy 10</td></tr><tr><td>96068</td><td>Mosaic trisomy 22</td></tr><tr><td>96069</td><td>Distal duplication 1p36</td></tr><tr><td>96070</td><td>Distal duplication 2p</td></tr><tr><td>96071</td><td>Distal duplication 3p</td></tr><tr><td>96072</td><td>4p16.3 microduplication syndrome</td></tr><tr><td>96074</td><td>Distal duplication 7p</td></tr><tr><td>96076</td><td>Beckwith-Wiedemann syndrome due to 11p15 microduplication</td></tr><tr><td>96078</td><td>16p13.3 microduplication syndrome</td></tr><tr><td>96092</td><td>8p inverted duplication/deletion syndrome</td></tr><tr><td>96094</td><td>Distal duplication 2q</td></tr><tr><td>96095</td><td>3q26 microduplication syndrome</td></tr><tr><td>96096</td><td>Distal duplication 4q</td></tr><tr><td>96097</td><td>Distal duplication 5q</td></tr><tr><td>96098</td><td>Distal duplication 6q</td></tr><tr><td>96100</td><td>Distal duplication 8q</td></tr><tr><td>96101</td><td>Distal duplication 9q</td></tr><tr><td>96102</td><td>Distal duplication 10q</td></tr><tr><td>96103</td><td>Distal duplication 11q</td></tr><tr><td>96105</td><td>Distal duplication 13q</td></tr><tr><td>96106</td><td>Distal duplication 16q</td></tr><tr><td>96107</td><td>Distal duplication 20q</td></tr><tr><td>96109</td><td>Distal duplication 22q</td></tr><tr><td>96112</td><td>Non-distal duplication 9q</td></tr><tr><td>96121</td><td>7q11.23 microduplication syndrome</td></tr><tr><td>96123</td><td>Monosomy 22</td></tr><tr><td>96125</td><td>Distal deletion 6p</td></tr><tr><td>96126</td><td>Distal deletion 7p</td></tr><tr><td>96129</td><td>Distal deletion 19p</td></tr><tr><td>96145</td><td>Distal deletion 4q</td></tr><tr><td>96147</td><td>Kleefstra syndrome due to 9q34 microdeletion</td></tr><tr><td>96148</td><td>Distal deletion 10q</td></tr><tr><td>96149</td><td>Distal deletion 12q</td></tr><tr><td>96150</td><td>Distal deletion 14q</td></tr><tr><td>96160</td><td>Non-distal deletion 12q</td></tr><tr><td>96167</td><td>Recombinant 8 syndrome</td></tr><tr><td>96168</td><td>Monosomy 13q34</td></tr><tr><td>96169</td><td>Koolen-De Vries syndrome</td></tr><tr><td>96170</td><td>Emanuel syndrome</td></tr><tr><td>96171</td><td>Ring chromosome 2 syndrome</td></tr><tr><td>96172</td><td>Ring chromosome 3 syndrome</td></tr><tr><td>96173</td><td>Ring chromosome 9 syndrome</td></tr><tr><td>96175</td><td>Ring chromosome 11 syndrome</td></tr><tr><td>96176</td><td>Ring chromosome 13 syndrome</td></tr><tr><td>96177</td><td>Ring chromosome 15 syndrome</td></tr><tr><td>96178</td><td>Ring chromosome 16 syndrome</td></tr><tr><td>96179</td><td>Maternal uniparental disomy of chromosome 2</td></tr><tr><td>96180</td><td>Maternal uniparental disomy of chromosome 4</td></tr><tr><td>96181</td><td>Maternal uniparental disomy of chromosome 6</td></tr><tr><td>96182</td><td>Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</td></tr><tr><td>96183</td><td>Maternal uniparental disomy of chromosome 9</td></tr><tr><td>96184</td><td>Temple syndrome due to maternal uniparental disomy of chromosome 14</td></tr><tr><td>96185</td><td>Maternal uniparental disomy of chromosome 16</td></tr><tr><td>96186</td><td>Maternal uniparental disomy of chromosome 20</td></tr><tr><td>96187</td><td>Maternal uniparental disomy of chromosome 21</td></tr><tr><td>96188</td><td>Maternal uniparental disomy of chromosome 22</td></tr><tr><td>96190</td><td>Paternal uniparental disomy of chromosome 5</td></tr><tr><td>96191</td><td>Paternal uniparental disomy of chromosome 6</td></tr><tr><td>96192</td><td>Paternal uniparental disomy of chromosome 7</td></tr><tr><td>96193</td><td>Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</td></tr><tr><td>96194</td><td>Paternal uniparental disomy of chromosome 20</td></tr><tr><td>96195</td><td>Paternal uniparental disomy of chromosome 21</td></tr><tr><td>96201</td><td>X small rings</td></tr><tr><td>96253</td><td>Cushing disease</td></tr><tr><td>96263</td><td>48,XXXY syndrome</td></tr><tr><td>96264</td><td>49,XXXXY syndrome</td></tr><tr><td>96265</td><td>Leydig cell hypoplasia due to complete LH resistance</td></tr><tr><td>96266</td><td>Leydig cell hypoplasia due to partial LH resistance</td></tr><tr><td>96269</td><td>Isolated partial vaginal agenesis</td></tr><tr><td>963</td><td>Acromegaly</td></tr><tr><td>96334</td><td>Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14</td></tr><tr><td>968</td><td>Acromesomelic dysplasia, Hunter-Thompson type</td></tr><tr><td>969</td><td>Acromicric dysplasia</td></tr><tr><td>97</td><td>Familial paroxysmal ataxia</td></tr><tr><td>970</td><td>Hereditary sensory and autonomic neuropathy type 2</td></tr><tr><td>971</td><td>Acrorenal syndrome</td></tr><tr><td>972</td><td>Hereditary continuous muscle fiber activity</td></tr><tr><td>97214</td><td>Eisenmenger syndrome</td></tr><tr><td>97229</td><td>Riboflavin transporter deficiency</td></tr><tr><td>97230</td><td>Solar urticaria</td></tr><tr><td>97232</td><td>Fingerprint body myopathy</td></tr><tr><td>97234</td><td>Glycogen storage disease due to phosphoglycerate mutase deficiency</td></tr><tr><td>97238</td><td>Rippling muscle disease</td></tr><tr><td>97239</td><td>Reducing body myopathy</td></tr><tr><td>97240</td><td>Zebra body myopathy</td></tr><tr><td>97244</td><td>Rigid spine syndrome</td></tr><tr><td>97249</td><td>Pontocerebellar hypoplasia type 3</td></tr><tr><td>97252</td><td>Mega-cisterna magna</td></tr><tr><td>97261</td><td>GRFoma</td></tr><tr><td>97278</td><td>PPoma</td></tr><tr><td>97279</td><td>Insulinoma</td></tr><tr><td>97280</td><td>Glucagonoma</td></tr><tr><td>97282</td><td>VIPoma</td></tr><tr><td>97283</td><td>Somatostatinoma</td></tr><tr><td>97285</td><td>Thyroid lymphoma</td></tr><tr><td>97286</td><td>Carney-Stratakis syndrome</td></tr><tr><td>97287</td><td>Bronchial neuroendocrine tumor</td></tr><tr><td>97289</td><td>Thymic neuroendocrine tumor</td></tr><tr><td>97290</td><td>Familial papillary thyroid carcinoma with renal papillary neoplasia</td></tr><tr><td>97292</td><td>Cardiogenic shock</td></tr><tr><td>97297</td><td>Bohring-Opitz syndrome</td></tr><tr><td>973</td><td>Congenital absence/hypoplasia of fingers excluding thumb, unilateral</td></tr><tr><td>97330</td><td>Thoracic outlet syndrome</td></tr><tr><td>97332</td><td>Kienbock disease</td></tr><tr><td>97335</td><td>Osgood-Schlatter disease</td></tr><tr><td>97336</td><td>Panner disease</td></tr><tr><td>97337</td><td>Sinding-Larsen-Johansson disease</td></tr><tr><td>97338</td><td>Melanoma of soft tissue</td></tr><tr><td>97339</td><td>Dural sinus malformation</td></tr><tr><td>97340</td><td>Hunter-McAlpine syndrome</td></tr><tr><td>97341</td><td>Persistent placoid maculopathy</td></tr><tr><td>97345</td><td>ABri amyloidosis</td></tr><tr><td>97346</td><td>ADan amyloidosis</td></tr><tr><td>97349</td><td>Postencephalitic parkinsonism</td></tr><tr><td>97352</td><td>Pellagra</td></tr><tr><td>97353</td><td>Dementia pugilistica</td></tr><tr><td>97355</td><td>Caribbean parkinsonism</td></tr><tr><td>97360</td><td>Robinow syndrome</td></tr><tr><td>97361</td><td>Renal hypoplasia, unilateral</td></tr><tr><td>97362</td><td>Renal hypoplasia, bilateral</td></tr><tr><td>97363</td><td>Unilateral multicystic dysplastic kidney</td></tr><tr><td>97364</td><td>Bilateral multicystic dysplastic kidney</td></tr><tr><td>97366</td><td>Multiloculated renal cyst</td></tr><tr><td>97367</td><td>Renal tubular dysgenesis due to twin-twin transfusion</td></tr><tr><td>97368</td><td>Drug-related renal tubular dysgenesis</td></tr><tr><td>97369</td><td>Renal tubular dysgenesis of genetic origin</td></tr><tr><td>974</td><td>Adams-Oliver syndrome</td></tr><tr><td>97548</td><td>Right sided atrial isomerism</td></tr><tr><td>97560</td><td>Primary membranous glomerulonephritis</td></tr><tr><td>97563</td><td>Pauci-immune glomerulonephritis with ANCA</td></tr><tr><td>97564</td><td>Pauci-immune glomerulonephritis without ANCA</td></tr><tr><td>97566</td><td>Non-amyloid fibrillary glomerulopathy</td></tr><tr><td>97567</td><td>Immunotactoid glomerulopathy</td></tr><tr><td>97598</td><td>Congenital renal artery stenosis</td></tr><tr><td>976</td><td>Adenine phosphoribosyltransferase deficiency</td></tr><tr><td>97678</td><td>Maternal uniparental disomy of chromosome 13</td></tr><tr><td>97685</td><td>17q11 microdeletion syndrome</td></tr><tr><td>977</td><td>Adrenomyodystrophy</td></tr><tr><td>978</td><td>ADULT syndrome</td></tr><tr><td>98</td><td>Autosomal recessive spastic ataxia of Charlevoix-Saguenay</td></tr><tr><td>980</td><td>Absence of the pulmonary artery</td></tr><tr><td>981</td><td>Internal carotid absence</td></tr><tr><td>98267</td><td>Genetic non-syndromic obesity</td></tr><tr><td>983</td><td>Testicular regression syndrome</td></tr><tr><td>984</td><td>Pulmonary agenesis</td></tr><tr><td>98434</td><td>Hereditary combined deficiency of vitamin K-dependent clotting factors</td></tr><tr><td>98606</td><td>Syndromic orbital border hypoplasia</td></tr><tr><td>98619</td><td>Rare isolated myopia</td></tr><tr><td>98673</td><td>Autosomal dominant optic atrophy, classic form</td></tr><tr><td>98676</td><td>Autosomal recessive isolated optic atrophy</td></tr><tr><td>98686</td><td>Congenital trochlear nerve palsy</td></tr><tr><td>98754</td><td>Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</td></tr><tr><td>98755</td><td>Spinocerebellar ataxia type 1</td></tr><tr><td>98756</td><td>Spinocerebellar ataxia type 2</td></tr><tr><td>98757</td><td>Spinocerebellar ataxia type 3</td></tr><tr><td>98758</td><td>Spinocerebellar ataxia type 6</td></tr><tr><td>98759</td><td>Spinocerebellar ataxia type 17</td></tr><tr><td>98760</td><td>Spinocerebellar ataxia type 8</td></tr><tr><td>98761</td><td>Spinocerebellar ataxia type 10</td></tr><tr><td>98762</td><td>Spinocerebellar ataxia type 12</td></tr><tr><td>98763</td><td>Spinocerebellar ataxia type 14</td></tr><tr><td>98764</td><td>Spinocerebellar ataxia type 27</td></tr><tr><td>98765</td><td>Spinocerebellar ataxia type 4</td></tr><tr><td>98766</td><td>Spinocerebellar ataxia type 5</td></tr><tr><td>98767</td><td>Spinocerebellar ataxia type 11</td></tr><tr><td>98768</td><td>Spinocerebellar ataxia type 13</td></tr><tr><td>98769</td><td>Spinocerebellar ataxia type 15/16</td></tr><tr><td>98771</td><td>Spinocerebellar ataxia type 18</td></tr><tr><td>98772</td><td>Spinocerebellar ataxia type 19/22</td></tr><tr><td>98773</td><td>Spinocerebellar ataxia type 21</td></tr><tr><td>98784</td><td>Autosomal dominant nocturnal frontal lobe epilepsy</td></tr><tr><td>98791</td><td>Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16</td></tr><tr><td>98793</td><td>Prader-Willi syndrome due to paternal 15q11q13 deletion</td></tr><tr><td>98794</td><td>Angelman syndrome due to maternal 15q11q13 deletion</td></tr><tr><td>98795</td><td>Angelman syndrome due to paternal uniparental disomy of chromosome 15</td></tr><tr><td>98797</td><td>Isochromosomy Yp</td></tr><tr><td>98798</td><td>Isochromosomy Yq</td></tr><tr><td>988</td><td>Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome</td></tr><tr><td>98805</td><td>Primary dystonia, DYT4 type</td></tr><tr><td>98806</td><td>Primary dystonia, DYT6 type</td></tr><tr><td>98807</td><td>Primary dystonia, DYT13 type</td></tr><tr><td>98808</td><td>Autosomal dominant dopa-responsive dystonia</td></tr><tr><td>98809</td><td>Paroxysmal kinesigenic dyskinesia</td></tr><tr><td>98810</td><td>Paroxysmal non-kinesigenic dyskinesia</td></tr><tr><td>98811</td><td>Paroxysmal exertion-induced dyskinesia</td></tr><tr><td>98813</td><td>Hypohidrotic ectodermal dysplasia with immunodeficiency</td></tr><tr><td>98815</td><td>Benign childhood occipital epilepsy, Panayiotopoulos type</td></tr><tr><td>98816</td><td>Benign childhood occipital epilepsy, Gastaut type</td></tr><tr><td>98818</td><td>Landau-Kleffner syndrome</td></tr><tr><td>98819</td><td>Familial temporal lobe epilepsy</td></tr><tr><td>98820</td><td>Familial focal epilepsy with variable foci</td></tr><tr><td>98823</td><td>Chronic myelomonocytic leukemia</td></tr><tr><td>98824</td><td>Atypical chronic myeloid leukemia</td></tr><tr><td>98825</td><td>Unclassified myelodysplastic/myeloproliferative disease</td></tr><tr><td>98826</td><td>Refractory anemia</td></tr><tr><td>98827</td><td>Unclassified myelodysplastic syndrome</td></tr><tr><td>98829</td><td>Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)</td></tr><tr><td>98831</td><td>Acute myeloid leukemia with 11q23 abnormalities</td></tr><tr><td>98832</td><td>Acute myeloid leukemia with minimal differentiation</td></tr><tr><td>98833</td><td>Acute myeloblastic leukemia without maturation</td></tr><tr><td>98834</td><td>Acute myeloblastic leukemia with maturation</td></tr><tr><td>98835</td><td>Acute undifferentiated leukemia</td></tr><tr><td>98838</td><td>Primary mediastinal large B-cell lymphoma</td></tr><tr><td>98839</td><td>Intravascular large B-cell lymphoma</td></tr><tr><td>98841</td><td>Anaplastic large cell lymphoma</td></tr><tr><td>98842</td><td>Lymphomatoid papulosis</td></tr><tr><td>98843</td><td>Classic Hodgkin lymphoma, nodular sclerosis type</td></tr><tr><td>98844</td><td>Classic Hodgkin lymphoma, mixed cellularity type</td></tr><tr><td>98845</td><td>Classic Hodgkin lymphoma, lymphocyte-rich type</td></tr><tr><td>98846</td><td>Classic Hodgkin lymphoma, lymphocyte-depleted type</td></tr><tr><td>98848</td><td>Indolent systemic mastocytosis</td></tr><tr><td>98849</td><td>Systemic mastocytosis with associated hematologic neoplasm</td></tr><tr><td>98850</td><td>Aggressive systemic mastocytosis</td></tr><tr><td>98851</td><td>Mast cell leukemia</td></tr><tr><td>98852</td><td>Desquamative interstitial pneumonia</td></tr><tr><td>98853</td><td>Autosomal dominant Emery-Dreifuss muscular dystrophy</td></tr><tr><td>98855</td><td>Autosomal recessive Emery-Dreifuss muscular dystrophy</td></tr><tr><td>98856</td><td>Charcot-Marie-Tooth disease type 2B1</td></tr><tr><td>98863</td><td>X-linked Emery-Dreifuss muscular dystrophy</td></tr><tr><td>98868</td><td>Southeast Asian ovalocytosis</td></tr><tr><td>98869</td><td>Congenital dyserythropoietic anemia type I</td></tr><tr><td>98870</td><td>Congenital dyserythropoietic anemia type III</td></tr><tr><td>98871</td><td>Transient erythroblastopenia of childhood</td></tr><tr><td>98872</td><td>Primary acquired pure red cell aplasia</td></tr><tr><td>98873</td><td>Congenital dyserythropoietic anemia type II</td></tr><tr><td>98878</td><td>Hemophilia A</td></tr><tr><td>98879</td><td>Hemophilia B</td></tr><tr><td>98880</td><td>Familial afibrinogenemia</td></tr><tr><td>98881</td><td>Familial dysfibrinogenemia</td></tr><tr><td>98885</td><td>Bleeding diathesis due to glycoprotein VI deficiency</td></tr><tr><td>98886</td><td>Bleeding diathesis due to integrin alpha2-beta1 deficiency</td></tr><tr><td>98889</td><td>Bilateral perisylvian polymicrogyria</td></tr><tr><td>98890</td><td>Early-onset X-linked optic atrophy</td></tr><tr><td>98892</td><td>Periventricular nodular heterotopia</td></tr><tr><td>98893</td><td>Congenital muscular dystrophy type 1B</td></tr><tr><td>98895</td><td>Becker muscular dystrophy</td></tr><tr><td>98896</td><td>Duchenne muscular dystrophy</td></tr><tr><td>98897</td><td>Oculopharyngodistal myopathy</td></tr><tr><td>989</td><td>Hypoglossia-hypodactyly syndrome</td></tr><tr><td>98902</td><td>Amish nemaline myopathy</td></tr><tr><td>98904</td><td>Congenital myopathy with excess of thin filaments</td></tr><tr><td>98905</td><td>Congenital multicore myopathy with external ophthalmoplegia</td></tr><tr><td>98907</td><td>Neutral lipid storage disease with ichthyosis</td></tr><tr><td>98908</td><td>Neutral lipid storage myopathy</td></tr><tr><td>98909</td><td>Desminopathy</td></tr><tr><td>98911</td><td>Distal myotilinopathy</td></tr><tr><td>98912</td><td>Late-onset distal myopathy, Markesbery-Griggs type</td></tr><tr><td>98913</td><td>Postsynaptic congenital myasthenic syndromes</td></tr><tr><td>98914</td><td>Presynaptic congenital myasthenic syndromes</td></tr><tr><td>98915</td><td>Synaptic congenital myasthenic syndromes</td></tr><tr><td>98916</td><td>Acute inflammatory demyelinating polyradiculoneuropathy</td></tr><tr><td>98917</td><td>Acute motor and sensory axonal neuropathy</td></tr><tr><td>98918</td><td>Acute motor axonal neuropathy</td></tr><tr><td>98919</td><td>Miller Fisher syndrome</td></tr><tr><td>98920</td><td>Spinal muscular atrophy with respiratory distress type 1</td></tr><tr><td>98922</td><td>Blake pouch cyst</td></tr><tr><td>98933</td><td>Multiple system atrophy, parkinsonian type</td></tr><tr><td>98934</td><td>Huntington disease-like 2</td></tr><tr><td>98938</td><td>Colobomatous microphthalmia</td></tr><tr><td>98942</td><td>Coloboma of choroid and retina</td></tr><tr><td>98943</td><td>Coloboma of eye lens</td></tr><tr><td>98944</td><td>Coloboma of iris</td></tr><tr><td>98945</td><td>Coloboma of macula</td></tr><tr><td>98946</td><td>Coloboma of eyelid</td></tr><tr><td>98947</td><td>Coloboma of optic disc</td></tr><tr><td>98948</td><td>Congenital symblepharon</td></tr><tr><td>98949</td><td>Complete cryptophthalmia</td></tr><tr><td>98950</td><td>Partial cryptophthalmia</td></tr><tr><td>98951</td><td>Inverse Marcus-Gunn phenomenon</td></tr><tr><td>98954</td><td>Meesmann corneal dystrophy</td></tr><tr><td>98955</td><td>Lisch epithelial corneal dystrophy</td></tr><tr><td>98956</td><td>Epithelial basement membrane dystrophy</td></tr><tr><td>98957</td><td>Gelatinous drop-like corneal dystrophy</td></tr><tr><td>98958</td><td>Climatic droplet keratopathy</td></tr><tr><td>98959</td><td>Subepithelial mucinous corneal dystrophy</td></tr><tr><td>98960</td><td>Thiel-Behnke corneal dystrophy</td></tr><tr><td>98961</td><td>Reis-Bücklers corneal dystrophy</td></tr><tr><td>98962</td><td>Granular corneal dystrophy type I</td></tr><tr><td>98963</td><td>Granular corneal dystrophy type II</td></tr><tr><td>98964</td><td>Lattice corneal dystrophy type I</td></tr><tr><td>98967</td><td>Schnyder corneal dystrophy</td></tr><tr><td>98969</td><td>Macular corneal dystrophy</td></tr><tr><td>98970</td><td>Fleck corneal dystrophy</td></tr><tr><td>98971</td><td>Posterior amorphous corneal dystrophy</td></tr><tr><td>98972</td><td>Central cloudy dystrophy of François</td></tr><tr><td>98973</td><td>Posterior polymorphous corneal dystrophy</td></tr><tr><td>98974</td><td>Fuchs endothelial corneal dystrophy</td></tr><tr><td>98975</td><td>Congenital hereditary endothelial dystrophy type I</td></tr><tr><td>98976</td><td>Congenital glaucoma</td></tr><tr><td>98977</td><td>Juvenile glaucoma</td></tr><tr><td>98978</td><td>Axenfeld anomaly</td></tr><tr><td>98979</td><td>Chandler syndrome</td></tr><tr><td>98980</td><td>Cogan-Reese syndrome</td></tr><tr><td>98981</td><td>Essential iris atrophy</td></tr><tr><td>98984</td><td>Pulverulent cataract</td></tr><tr><td>98985</td><td>Early-onset sutural cataract</td></tr><tr><td>98988</td><td>Early-onset anterior polar cataract</td></tr><tr><td>98989</td><td>Cerulean cataract</td></tr><tr><td>98990</td><td>Coralliform cataract</td></tr><tr><td>98991</td><td>Early-onset nuclear cataract</td></tr><tr><td>98992</td><td>Early-onset partial cataract</td></tr><tr><td>98993</td><td>Early-onset posterior polar cataract</td></tr><tr><td>98994</td><td>Total early-onset cataract</td></tr><tr><td>98995</td><td>Early-onset zonular cataract</td></tr><tr><td>990</td><td>Agnathia-holoprosencephaly-situs inversus syndrome</td></tr><tr><td>99000</td><td>Adult-onset foveomacular vitelliform dystrophy</td></tr><tr><td>99001</td><td>Butterfly-shaped pigment dystrophy</td></tr><tr><td>99002</td><td>Reticular dystrophy of the retinal pigment epithelium</td></tr><tr><td>99003</td><td>Multifocal pattern dystrophy simulating fundus flavimaculatus</td></tr><tr><td>99004</td><td>Fundus pulverulentus</td></tr><tr><td>99013</td><td>Spastic paraplegia type 7</td></tr><tr><td>99014</td><td>X-linked Charcot-Marie-Tooth disease type 5</td></tr><tr><td>99015</td><td>Spastic paraplegia type 2</td></tr><tr><td>99027</td><td>Adult-onset autosomal dominant leukodystrophy</td></tr><tr><td>99042</td><td>Congenitally uncorrected transposition of the great arteries with coarctation</td></tr><tr><td>99043</td><td>Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis</td></tr><tr><td>99045</td><td>Double outlet right ventricle with subpulmonary ventricular septal defect</td></tr><tr><td>99046</td><td>Double outlet right ventricle with non-committed subpulmonary ventricular septal defect</td></tr><tr><td>99048</td><td>Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome</td></tr><tr><td>99049</td><td>Pulmonary artery coming from patent ductus arteriosus</td></tr><tr><td>99050</td><td>Abnormal origin of right or left pulmonary artery from the aorta</td></tr><tr><td>99051</td><td>Discrete fixed membranous subaortic stenosis</td></tr><tr><td>99052</td><td>Discrete fibromuscular subaortic stenosis</td></tr><tr><td>99053</td><td>Tunnel subaortic stenosis</td></tr><tr><td>99054</td><td>Valvular pulmonary stenosis</td></tr><tr><td>99055</td><td>Congenital anomaly of the tricuspid valve chordae</td></tr><tr><td>99056</td><td>Parachute tricuspid valve</td></tr><tr><td>99057</td><td>Congenital mitral stenosis</td></tr><tr><td>99058</td><td>Hypoplasia of the mitral valve annulus</td></tr><tr><td>99059</td><td>Congenital supravalvular mitral ring</td></tr><tr><td>99060</td><td>Congenital unguarded mitral orifice</td></tr><tr><td>99061</td><td>Accessory mitral valve tissue</td></tr><tr><td>99062</td><td>Mitral valve agenesis</td></tr><tr><td>99063</td><td>Shone complex</td></tr><tr><td>99064</td><td>Straddling and/or overriding mitral valve</td></tr><tr><td>99067</td><td>Complete atrioventricular septal defect with ventricular hypoplasia</td></tr><tr><td>99068</td><td>Complete atrioventricular septal defect-tetralogy of Fallot</td></tr><tr><td>99070</td><td>Aorto-right ventricular tunnel</td></tr><tr><td>99071</td><td>Aorto-left ventricular tunnel</td></tr><tr><td>99072</td><td>Congenital patent ductus arteriosus aneurysm</td></tr><tr><td>99075</td><td>Encircling double aortic arch</td></tr><tr><td>99076</td><td>Persistent fifth aortic arch</td></tr><tr><td>99077</td><td>Kommerell diverticulum</td></tr><tr><td>99078</td><td>Neuhauser anomaly</td></tr><tr><td>99079</td><td>Cervical aortic arch</td></tr><tr><td>99081</td><td>Right aortic arch</td></tr><tr><td>99082</td><td>Dysphagia lusoria</td></tr><tr><td>99083</td><td>Pulmonary artery hypoplasia</td></tr><tr><td>99084</td><td>Peripheral pulmonary stenosis</td></tr><tr><td>99087</td><td>Coronary ostial stenosis or atresia</td></tr><tr><td>99089</td><td>Abnormal number of coronary ostia</td></tr><tr><td>99090</td><td>Malposition of a coronary ostium</td></tr><tr><td>99092</td><td>Interventricular septum aneurysm</td></tr><tr><td>99094</td><td>Laubry-Pezzi syndrome</td></tr><tr><td>99095</td><td>Congenital Gerbode defect</td></tr><tr><td>99098</td><td>Cor triatriatum dexter</td></tr><tr><td>99099</td><td>Cor triatriatum sinister</td></tr><tr><td>991</td><td>PAGOD syndrome</td></tr><tr><td>99100</td><td>Juxtaposition of the atrial appendages</td></tr><tr><td>99101</td><td>Ectasia of the right atrial appendage</td></tr><tr><td>99102</td><td>Ectasia of the left atrial appendage</td></tr><tr><td>99103</td><td>Atrial septal defect, ostium secundum type</td></tr><tr><td>99104</td><td>Atrial septal defect, coronary sinus type</td></tr><tr><td>99105</td><td>Atrial septal defect, sinus venosus type</td></tr><tr><td>99106</td><td>Atrial septal defect, ostium primum type</td></tr><tr><td>99107</td><td>Atrial septal aneurysm</td></tr><tr><td>99109</td><td>Persistent left superior vena cava connecting through coronary sinus to left-sided atrium</td></tr><tr><td>99110</td><td>Right superior vena cava connecting to left-sided atrium</td></tr><tr><td>99111</td><td>Persistent left superior vena cava connecting to the roof of left-sided atrium</td></tr><tr><td>99112</td><td>Absence of innominate vein</td></tr><tr><td>99113</td><td>Subaortic course of innominate vein</td></tr><tr><td>99114</td><td>Agenesis of the superior vena cava</td></tr><tr><td>99117</td><td>Coronary sinus stenosis</td></tr><tr><td>99118</td><td>Coronary sinus atresia</td></tr><tr><td>99119</td><td>Right inferior vena cava connecting to left-sided atrium</td></tr><tr><td>99120</td><td>Persistent eustachian valve</td></tr><tr><td>99121</td><td>Azygos continuation of the inferior vena cava</td></tr><tr><td>99122</td><td>Congenital stenosis of the inferior vena cava</td></tr><tr><td>99123</td><td>Inferior vena cava interruption without azygos continuation</td></tr><tr><td>99124</td><td>Congenital partial pulmonary venous return anomaly</td></tr><tr><td>99125</td><td>Congenital total pulmonary venous return anomaly</td></tr><tr><td>99126</td><td>Congenital pulmonary vein atresia</td></tr><tr><td>99129</td><td>Congenital complete agenesis of pericardium</td></tr><tr><td>99130</td><td>Congenital partial agenesis of pericardium</td></tr><tr><td>99131</td><td>Pleuro-pericardial cyst</td></tr><tr><td>99135</td><td>6-phosphogluconate dehydrogenase deficiency</td></tr><tr><td>99138</td><td>Hemolytic anemia due to erythrocyte adenosine deaminase overproduction</td></tr><tr><td>99139</td><td>Unstable hemoglobin disease</td></tr><tr><td>99141</td><td>Lymphedema-posterior choanal atresia syndrome</td></tr><tr><td>99147</td><td>Acquired von Willebrand syndrome</td></tr><tr><td>99169</td><td>Epiblepharon</td></tr><tr><td>99170</td><td>Tarsal kink syndrome</td></tr><tr><td>99171</td><td>Isolated congenital ectropion</td></tr><tr><td>99172</td><td>Euryblepharon</td></tr><tr><td>99176</td><td>Congenital eyelid retraction</td></tr><tr><td>99177</td><td>Isolated distichiasis</td></tr><tr><td>99179</td><td>Kandori fleck retina</td></tr><tr><td>99226</td><td>Monosomy X</td></tr><tr><td>99228</td><td>Mosaic monosomy X</td></tr><tr><td>99324</td><td>Paternal uniparental disomy of chromosome 13</td></tr><tr><td>99329</td><td>48,XYYY syndrome</td></tr><tr><td>99330</td><td>49,XYYYY syndrome</td></tr><tr><td>99361</td><td>Familial medullary thyroid carcinoma</td></tr><tr><td>994</td><td>Fetal akinesia deformation sequence</td></tr><tr><td>99413</td><td>Turner syndrome due to structural X chromosome anomalies</td></tr><tr><td>99429</td><td>Complete androgen insensitivity syndrome</td></tr><tr><td>99642</td><td>Spondyloepimetaphyseal dysplasia, Handigodu type</td></tr><tr><td>99646</td><td>Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria</td></tr><tr><td>99647</td><td>Cheirospondyloenchondromatosis</td></tr><tr><td>99657</td><td>Primary dystonia, DYT2 type</td></tr><tr><td>99672</td><td>Fried's tooth and nail syndrome</td></tr><tr><td>99688</td><td>Dermotrichic syndrome</td></tr><tr><td>99701</td><td>Mesial temporal lobe epilepsy with hippocampal sclerosis</td></tr><tr><td>99704</td><td>Early-onset obesity-hyperphagia-severe developmental delay syndrome</td></tr><tr><td>99710</td><td>Punctate acrokeratoderma freckle-like pigmentation</td></tr><tr><td>99718</td><td>Leber plus disease</td></tr><tr><td>99725</td><td>Pituitary gigantism</td></tr><tr><td>99731</td><td>Isolated sulfite oxidase deficiency</td></tr><tr><td>99732</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency</td></tr><tr><td>99734</td><td>Myotonia fluctuans</td></tr><tr><td>99735</td><td>Myotonia permanens</td></tr><tr><td>99736</td><td>Acetazolamide-responsive myotonia</td></tr><tr><td>99741</td><td>King-Denborough syndrome</td></tr><tr><td>99742</td><td>Amish lethal microcephaly</td></tr><tr><td>99745</td><td>Typhoid</td></tr><tr><td>99748</td><td>Pontiac fever</td></tr><tr><td>99749</td><td>Kostmann syndrome</td></tr><tr><td>99750</td><td>Atypical progressive supranuclear palsy syndrome</td></tr><tr><td>99756</td><td>Alveolar rhabdomyosarcoma</td></tr><tr><td>99757</td><td>Embryonal rhabdomyosarcoma</td></tr><tr><td>99771</td><td>Bifid uvula</td></tr><tr><td>99772</td><td>Cleft velum</td></tr><tr><td>99776</td><td>Mosaic trisomy 9</td></tr><tr><td>99789</td><td>Dentin dysplasia type I</td></tr><tr><td>99791</td><td>Dentin dysplasia type II</td></tr><tr><td>99792</td><td>Dentin dysplasia-sclerotic bones syndrome</td></tr><tr><td>99796</td><td>Subcortical band heterotopia</td></tr><tr><td>99797</td><td>Anodontia</td></tr><tr><td>99798</td><td>Oligodontia</td></tr><tr><td>998</td><td>Albinism-deafness syndrome</td></tr><tr><td>99802</td><td>Hemimegalencephaly</td></tr><tr><td>99803</td><td>Haddad syndrome</td></tr><tr><td>99806</td><td>Oculootodental syndrome</td></tr><tr><td>99807</td><td>PEHO-like syndrome</td></tr><tr><td>99810</td><td>Familial porencephaly</td></tr><tr><td>99811</td><td>Neuronal intestinal pseudoobstruction</td></tr><tr><td>99812</td><td>LIG4 syndrome</td></tr><tr><td>99818</td><td>Turcot syndrome with polyposis</td></tr><tr><td>99819</td><td>Familial gestational hyperthyroidism</td></tr><tr><td>99824</td><td>Lassa fever</td></tr><tr><td>99825</td><td>Nipah virus disease</td></tr><tr><td>99826</td><td>Marburg hemorrhagic fever</td></tr><tr><td>99827</td><td>Crimean-Congo hemorrhagic fever</td></tr><tr><td>99828</td><td>Dengue fever</td></tr><tr><td>99829</td><td>Yellow fever</td></tr><tr><td>99832</td><td>Resistance to thyrotropin-releasing hormone syndrome</td></tr><tr><td>99842</td><td>Leukocyte adhesion deficiency type I</td></tr><tr><td>99843</td><td>Leukocyte adhesion deficiency type II</td></tr><tr><td>99844</td><td>Leukocyte adhesion deficiency type III</td></tr><tr><td>99845</td><td>Genetic recurrent myoglobinuria</td></tr><tr><td>99846</td><td>Autosomal dominant myoglobinuria</td></tr><tr><td>99849</td><td>Glycogen storage disease due to muscle beta-enolase deficiency</td></tr><tr><td>99852</td><td>Ravine syndrome</td></tr><tr><td>99853</td><td>Ovarioleukodystrophy</td></tr><tr><td>99854</td><td>Cree leukoencephalopathy</td></tr><tr><td>99856</td><td>Primary syringomyelia</td></tr><tr><td>99857</td><td>Secondary syringomyelia</td></tr><tr><td>99858</td><td>Idiopathic syringomyelia</td></tr><tr><td>99860</td><td>Precursor B-cell acute lymphoblastic leukemia</td></tr><tr><td>99861</td><td>Precursor T-cell acute lymphoblastic leukemia</td></tr><tr><td>99865</td><td>Spermatocytic seminoma</td></tr><tr><td>99867</td><td>Thymoma</td></tr><tr><td>99868</td><td>Thymic carcinoma</td></tr><tr><td>99869</td><td>Thymic neuroendocrine carcinoma</td></tr><tr><td>99879</td><td>Familial isolated hyperparathyroidism</td></tr><tr><td>99880</td><td>Hyperparathyroidism-jaw tumor syndrome</td></tr><tr><td>99885</td><td>Isolated permanent neonatal diabetes mellitus</td></tr><tr><td>99886</td><td>Transient neonatal diabetes mellitus</td></tr><tr><td>99887</td><td>Acute megakaryoblastic leukemia in Down syndrome</td></tr><tr><td>99889</td><td>Cushing syndrome due to ectopic ACTH secretion</td></tr><tr><td>99898</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency</td></tr><tr><td>999</td><td>Ermine phenotype</td></tr><tr><td>99901</td><td>Acyl-CoA dehydrogenase 9 deficiency</td></tr><tr><td>99903</td><td>Spirillary rat-bite fever</td></tr><tr><td>99905</td><td>Streptobacillary rat-bite fever</td></tr><tr><td>99906</td><td>Farmer's lung disease</td></tr><tr><td>99907</td><td>House allergic alveolitis</td></tr><tr><td>99908</td><td>Pigeon-breeder lung disease</td></tr><tr><td>99912</td><td>Malignant dysgerminomatous germ cell tumor of the ovary</td></tr><tr><td>99914</td><td>Gynandroblastoma</td></tr><tr><td>99915</td><td>Maligant granulosa cell tumor of the ovary</td></tr><tr><td>99916</td><td>Malignant Sertoli-Leydig cell tumor of the ovary</td></tr><tr><td>99917</td><td>Theca steroid-producing cell malignant tumor of ovary, not further specified</td></tr><tr><td>99918</td><td>Streptococcal toxic-shock syndrome</td></tr><tr><td>99919</td><td>Staphylococcal toxic-shock syndrome</td></tr><tr><td>99920</td><td>Acute graft versus host disease</td></tr><tr><td>99921</td><td>Chronic graft versus host disease</td></tr><tr><td>99922</td><td>Ocular cicatricial pemphigoid</td></tr><tr><td>99925</td><td>Invasive mole</td></tr><tr><td>99926</td><td>Gestational choriocarcinoma</td></tr><tr><td>99927</td><td>Hydatidiform mole</td></tr><tr><td>99928</td><td>Placental site trophoblastic tumor</td></tr><tr><td>99930</td><td>Secondary pulmonary hemosiderosis</td></tr><tr><td>99931</td><td>Idiopathic pulmonary hemosiderosis</td></tr><tr><td>99932</td><td>Heiner syndrome</td></tr><tr><td>99933</td><td>Pleuropulmonary blastoma type 1</td></tr><tr><td>99934</td><td>Pleuropulmonary blastoma type 2</td></tr><tr><td>99935</td><td>Pleuropulmonary blastoma type 3</td></tr><tr><td>99936</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2B</td></tr><tr><td>99937</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2C</td></tr><tr><td>99938</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2D</td></tr><tr><td>99939</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2E</td></tr><tr><td>99940</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2F</td></tr><tr><td>99941</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2G</td></tr><tr><td>99942</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2I</td></tr><tr><td>99943</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2J</td></tr><tr><td>99944</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2K</td></tr><tr><td>99945</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2L</td></tr><tr><td>99946</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2A1</td></tr><tr><td>99947</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2A2</td></tr><tr><td>99948</td><td>Charcot-Marie-Tooth disease type 4A</td></tr><tr><td>99949</td><td>Charcot-Marie-Tooth disease type 4C</td></tr><tr><td>99950</td><td>Charcot-Marie-Tooth disease type 4D</td></tr><tr><td>99951</td><td>Charcot-Marie-Tooth disease type 4E</td></tr><tr><td>99952</td><td>Charcot-Marie-Tooth disease type 4F</td></tr><tr><td>99953</td><td>Charcot-Marie-Tooth disease type 4G</td></tr><tr><td>99954</td><td>Charcot-Marie-Tooth disease type 4H</td></tr><tr><td>99955</td><td>Charcot-Marie-Tooth disease type 4B1</td></tr><tr><td>99956</td><td>Charcot-Marie-Tooth disease type 4B2</td></tr><tr><td>99960</td><td>Benign recurrent intrahepatic cholestasis type 1</td></tr><tr><td>99961</td><td>Benign recurrent intrahepatic cholestasis type 2</td></tr><tr><td>99965</td><td>O'Sullivan-McLeod syndrome</td></tr><tr><td>99966</td><td>Atypical teratoid rhabdoid tumor</td></tr><tr><td>99967</td><td>Myxoid/round cell liposarcoma</td></tr><tr><td>99969</td><td>Pleomorphic liposarcoma</td></tr><tr><td>99970</td><td>Dedifferentiated liposarcoma</td></tr><tr><td>99971</td><td>Well-differentiated liposarcoma</td></tr><tr><td>99976</td><td>Adenocarcinoma of the esophagus</td></tr><tr><td>99977</td><td>Squamous cell carcinoma of the esophagus</td></tr><tr><td>99978</td><td>Klatskin tumor</td></tr><tr><td>99981</td><td>Apnea of prematurity</td></tr><tr><td>99989</td><td>Intermediate DEND syndrome</td></tr><tr><td>99990</td><td>Brill-Zinsser disease</td></tr><tr><td>99991</td><td>Relapsing epidemic typhus</td></tr><tr><td>99994</td><td>Complex regional pain syndrome type 2</td></tr><tr><td>99995</td><td>Complex regional pain syndrome type 1</td></tr></table></li></ul></div>" ] ; # fhir:extension ( [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ; fhir:value [ fhir:v "1"^^xsd:integer ] ] [ fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ; fhir:value [ fhir:v "draft" ] ] ) ; # fhir:url [ fhir:v "http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease"^^xsd:anyURI] ; # fhir:identifier ( [ fhir:system [ fhir:v "urn:ietf:rfc:3986"^^xsd:anyURI ] ; fhir:value [ fhir:v "urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63" ] ] ) ; # fhir:version [ fhir:v "0.0.1"] ; # fhir:name [ fhir:v "EHDSIRareDisease"] ; # fhir:title [ fhir:v "eHDSI Rare Disease"] ; # fhir:status [ fhir:v "draft"] ; # fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # fhir:date [ fhir:v "2024-11-21T06:59:35+00:00"^^xsd:dateTime] ; # fhir:publisher [ fhir:v "MyHealth@Eu"] ; # fhir:contact ( [ fhir:name [ fhir:v "MyHealth@Eu" ] ; ( fhir:telecom [ fhir:system [ fhir:v "url" ] ; fhir:value [ fhir:v "https://health.ec.europa.eu/other-pages/basic-page/myhealtheu-flyer-addressed-patients-and-health-professionals_en" ] ] ) ] ) ; # fhir:description [ fhir:v "The Value Set is used to describe the problems and medication reasons."] ; # fhir:jurisdiction ( [ ( fhir:coding [ fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ; fhir:code [ fhir:v "150" ] ; fhir:display [ fhir:v "Europe" ] ] ) ] ) ; # fhir:compose [ ( fhir:include [ fhir:system [ fhir:v "https://www.orpha.net"^^xsd:anyURI ] ; ( fhir:concept [ fhir:code [ fhir:v "10" ] ; fhir:display [ fhir:v "48,XXYY syndrome" ] ] [ fhir:code [ fhir:v "100" ] ; fhir:display [ fhir:v "Ataxia-telangiectasia" ] ] [ fhir:code [ fhir:v "1000" ] ; fhir:display [ fhir:v "Ocular albinism with late-onset sensorineural deafness" ] ] [ fhir:code [ fhir:v "100000" ] ; fhir:display [ fhir:v "Reticular perineurioma" ] ] [ fhir:code [ fhir:v "100001" ] ; fhir:display [ fhir:v "Sclerosing perineurioma" ] ] [ fhir:code [ fhir:v "100002" ] ; fhir:display [ fhir:v "Extraneural perineurioma" ] ] [ fhir:code [ fhir:v "100003" ] ; fhir:display [ fhir:v "Intraneural perineurioma" ] ] [ fhir:code [ fhir:v "100006" ] ; fhir:display [ fhir:v "ABeta amyloidosis, Dutch type" ] ] [ fhir:code [ fhir:v "100008" ] ; fhir:display [ fhir:v "ACys amyloidosis" ] ] [ fhir:code [ fhir:v "100011" ] ; fhir:display [ fhir:v "Lissencephaly with cerebellar hypoplasia type A" ] ] [ fhir:code [ fhir:v "100012" ] ; fhir:display [ fhir:v "Lissencephaly with cerebellar hypoplasia type B" ] ] [ fhir:code [ fhir:v "100013" ] ; fhir:display [ fhir:v "Lissencephaly with cerebellar hypoplasia type C" ] ] [ fhir:code [ fhir:v "100014" ] ; fhir:display [ fhir:v "Lissencephaly with cerebellar hypoplasia type D" ] ] [ fhir:code [ fhir:v "100015" ] ; fhir:display [ fhir:v "Lissencephaly with cerebellar hypoplasia type E" ] ] [ fhir:code [ fhir:v "100016" ] ; fhir:display [ fhir:v "Lissencephaly with cerebellar hypoplasia type F" ] ] [ fhir:code [ fhir:v "100019" ] ; fhir:display [ fhir:v "Refractory anemia with excess blasts type 1" ] ] [ fhir:code [ fhir:v "100020" ] ; fhir:display [ fhir:v "Refractory anemia with excess blasts type 2" ] ] [ fhir:code [ fhir:v "100021" ] ; fhir:display [ fhir:v "Primary plasmacytoma of the bone" ] ] [ fhir:code [ fhir:v "100022" ] ; fhir:display [ fhir:v "Extramedullary soft tissue plasmacytoma" ] ] [ fhir:code [ fhir:v "100024" ] ; fhir:display [ fhir:v "Mu-heavy chain disease" ] ] [ fhir:code [ fhir:v "100025" ] ; fhir:display [ fhir:v "Alpha-heavy chain disease" ] ] [ fhir:code [ fhir:v "100026" ] ; fhir:display [ fhir:v "Gamma-heavy chain disease" ] ] [ fhir:code [ fhir:v "100031" ] ; fhir:display [ fhir:v "Hypoplastic amelogenesis imperfecta" ] ] [ fhir:code [ fhir:v "100032" ] ; fhir:display [ fhir:v "Hypocalcified amelogenesis imperfecta" ] ] [ fhir:code [ fhir:v "100033" ] ; fhir:display [ fhir:v "Hypomaturation amelogenesis imperfecta" ] ] [ fhir:code [ fhir:v "100034" ] ; fhir:display [ fhir:v "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism" ] ] [ fhir:code [ fhir:v "100035" ] ; fhir:display [ fhir:v "Solitary necrotic nodule of the liver" ] ] [ fhir:code [ fhir:v "100043" ] ; fhir:display [ fhir:v "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A" ] ] [ fhir:code [ fhir:v "100044" ] ; fhir:display [ fhir:v "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" ] ] [ fhir:code [ fhir:v "100045" ] ; fhir:display [ fhir:v "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C" ] ] [ fhir:code [ fhir:v "100046" ] ; fhir:display [ fhir:v "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D" ] ] [ fhir:code [ fhir:v "100047" ] ; fhir:display [ fhir:v "Esophageal duplication cyst" ] ] [ fhir:code [ fhir:v "100048" ] ; fhir:display [ fhir:v "Tubular duplication of the esophagus" ] ] [ fhir:code [ fhir:v "100050" ] ; fhir:display [ fhir:v "Hereditary angioedema type 1" ] ] [ fhir:code [ fhir:v "100051" ] ; fhir:display [ fhir:v "Hereditary angioedema type 2" ] ] [ fhir:code [ fhir:v "100054" ] ; fhir:display [ fhir:v "F12-related hereditary angioedema with normal C1Inh" ] ] [ fhir:code [ fhir:v "100055" ] ; fhir:display [ fhir:v "Acquired angioedema type 2" ] ] [ fhir:code [ fhir:v "100056" ] ; fhir:display [ fhir:v "Acquired angioedema type 1" ] ] [ fhir:code [ fhir:v "100057" ] ; fhir:display [ fhir:v "Renin-angiotensin-aldosterone system-blocker-induced angioedema" ] ] [ fhir:code [ fhir:v "100067" ] ; fhir:display [ fhir:v "Waterhouse-Friderichsen syndrome" ] ] [ fhir:code [ fhir:v "100069" ] ; fhir:display [ fhir:v "Semantic dementia" ] ] [ fhir:code [ fhir:v "100070" ] ; fhir:display [ fhir:v "Progressive non-fluent aphasia" ] ] [ fhir:code [ fhir:v "100071" ] ; fhir:display [ fhir:v "Mosaic trisomy 3" ] ] [ fhir:code [ fhir:v "100073" ] ; fhir:display [ fhir:v "Neurogenic thoracic outlet syndrome" ] ] [ fhir:code [ fhir:v "100075" ] ; fhir:display [ fhir:v "Neuroendocrine tumor of stomach" ] ] [ fhir:code [ fhir:v "100078" ] ; fhir:display [ fhir:v "Ileal neuroendocrine tumor" ] ] [ fhir:code [ fhir:v "100079" ] ; fhir:display [ fhir:v "Neuroendocrine neoplasm of appendix" ] ] [ fhir:code [ fhir:v "100080" ] ; fhir:display [ fhir:v "Neuroendocrine tumor of the colon" ] ] [ fhir:code [ fhir:v "100081" ] ; fhir:display [ fhir:v "Neuroendocrine tumor of the rectum" ] ] [ fhir:code [ fhir:v "100082" ] ; fhir:display [ fhir:v "Neuroendocrine tumor of anal canal" ] ] [ fhir:code [ fhir:v "100083" ] ; fhir:display [ fhir:v "Laryngeal neuroendocrine tumor" ] ] [ fhir:code [ fhir:v "100084" ] ; fhir:display [ fhir:v "Middle ear neuroendocrine tumor" ] ] [ fhir:code [ fhir:v "100085" ] ; fhir:display [ fhir:v "Primary hepatic neuroendocrine carcinoma" ] ] [ fhir:code [ fhir:v "100086" ] ; fhir:display [ fhir:v "Gallbladder neuroendocrine tumor" ] ] [ fhir:code [ fhir:v "100093" ] ; fhir:display [ fhir:v "Carcinoid syndrome" ] ] [ fhir:code [ fhir:v "1001" ] ; fhir:display [ fhir:v "2q37 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "1003" ] ; fhir:display [ fhir:v "Scalp defects-postaxial polydactyly syndrome" ] ] [ fhir:code [ fhir:v "1005" ] ; fhir:display [ fhir:v "Alopecia-contractures-dwarfism-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "1006" ] ; fhir:display [ fhir:v "Alopecia antibody deficiency" ] ] [ fhir:code [ fhir:v "1008" ] ; fhir:display [ fhir:v "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "100924" ] ; fhir:display [ fhir:v "Porphyria due to ALA dehydratase deficiency" ] ] [ fhir:code [ fhir:v "100973" ] ; fhir:display [ fhir:v "FRAXE intellectual disability" ] ] [ fhir:code [ fhir:v "100974" ] ; fhir:display [ fhir:v "FRAXF syndrome" ] ] [ fhir:code [ fhir:v "100976" ] ; fhir:display [ fhir:v "Bathing suit ichthyosis" ] ] [ fhir:code [ fhir:v "100978" ] ; fhir:display [ fhir:v "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome" ] ] [ fhir:code [ fhir:v "100984" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 3" ] ] [ fhir:code [ fhir:v "100985" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 4" ] ] [ fhir:code [ fhir:v "100986" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 5A" ] ] [ fhir:code [ fhir:v "100988" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 6" ] ] [ fhir:code [ fhir:v "100989" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 8" ] ] [ fhir:code [ fhir:v "100991" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 10" ] ] [ fhir:code [ fhir:v "100993" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 12" ] ] [ fhir:code [ fhir:v "100994" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 13" ] ] [ fhir:code [ fhir:v "100995" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 14" ] ] [ fhir:code [ fhir:v "100996" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 15" ] ] [ fhir:code [ fhir:v "100997" ] ; fhir:display [ fhir:v "X-linked spastic paraplegia type 16" ] ] [ fhir:code [ fhir:v "100998" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 17" ] ] [ fhir:code [ fhir:v "100999" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 19" ] ] [ fhir:code [ fhir:v "101" ] ; fhir:display [ fhir:v "Dentatorubral pallidoluysian atrophy" ] ] [ fhir:code [ fhir:v "1010" ] ; fhir:display [ fhir:v "Autosomal dominant palmoplantar keratoderma and congenital alopecia" ] ] [ fhir:code [ fhir:v "101000" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 20" ] ] [ fhir:code [ fhir:v "101001" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 21" ] ] [ fhir:code [ fhir:v "101003" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 23" ] ] [ fhir:code [ fhir:v "101004" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 24" ] ] [ fhir:code [ fhir:v "101005" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 25" ] ] [ fhir:code [ fhir:v "101006" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 26" ] ] [ fhir:code [ fhir:v "101007" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 27" ] ] [ fhir:code [ fhir:v "101008" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 28" ] ] [ fhir:code [ fhir:v "101009" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 29" ] ] [ fhir:code [ fhir:v "101010" ] ; fhir:display [ fhir:v "Autosomal spastic paraplegia type 30" ] ] [ fhir:code [ fhir:v "101011" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 31" ] ] [ fhir:code [ fhir:v "101016" ] ; fhir:display [ fhir:v "Romano-Ward syndrome" ] ] [ fhir:code [ fhir:v "101023" ] ; fhir:display [ fhir:v "Cleft hard palate" ] ] [ fhir:code [ fhir:v "101028" ] ; fhir:display [ fhir:v "Transaldolase deficiency" ] ] [ fhir:code [ fhir:v "101029" ] ; fhir:display [ fhir:v "Sub-cortical nodular heterotopia" ] ] [ fhir:code [ fhir:v "101030" ] ; fhir:display [ fhir:v "Subependymal nodular heterotopia" ] ] [ fhir:code [ fhir:v "101039" ] ; fhir:display [ fhir:v "Female restricted epilepsy with intellectual disability" ] ] [ fhir:code [ fhir:v "101041" ] ; fhir:display [ fhir:v "Familial hypofibrinogenemia" ] ] [ fhir:code [ fhir:v "101043" ] ; fhir:display [ fhir:v "Congenital aortic valve dysplasia" ] ] [ fhir:code [ fhir:v "101046" ] ; fhir:display [ fhir:v "Autosomal dominant epilepsy with auditory features" ] ] [ fhir:code [ fhir:v "101049" ] ; fhir:display [ fhir:v "Familial hypocalciuric hypercalcemia type 2" ] ] [ fhir:code [ fhir:v "101050" ] ; fhir:display [ fhir:v "Familial hypocalciuric hypercalcemia type 3" ] ] [ fhir:code [ fhir:v "101063" ] ; fhir:display [ fhir:v "Situs inversus totalis" ] ] [ fhir:code [ fhir:v "101068" ] ; fhir:display [ fhir:v "Congenital stromal corneal dystrophy" ] ] [ fhir:code [ fhir:v "101070" ] ; fhir:display [ fhir:v "Bilateral frontoparietal polymicrogyria" ] ] [ fhir:code [ fhir:v "101071" ] ; fhir:display [ fhir:v "Unilateral hemispheric polymicrogyria" ] ] [ fhir:code [ fhir:v "101075" ] ; fhir:display [ fhir:v "X-linked Charcot-Marie-Tooth disease type 1" ] ] [ fhir:code [ fhir:v "101076" ] ; fhir:display [ fhir:v "X-linked Charcot-Marie-Tooth disease type 2" ] ] [ fhir:code [ fhir:v "101077" ] ; fhir:display [ fhir:v "X-linked Charcot-Marie-Tooth disease type 3" ] ] [ fhir:code [ fhir:v "101078" ] ; fhir:display [ fhir:v "X-linked Charcot-Marie-Tooth disease type 4" ] ] [ fhir:code [ fhir:v "101081" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 1A" ] ] [ fhir:code [ fhir:v "101082" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 1B" ] ] [ fhir:code [ fhir:v "101083" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 1C" ] ] [ fhir:code [ fhir:v "101084" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 1D" ] ] [ fhir:code [ fhir:v "101085" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 1F" ] ] [ fhir:code [ fhir:v "101088" ] ; fhir:display [ fhir:v "X-linked hyper-IgM syndrome" ] ] [ fhir:code [ fhir:v "101089" ] ; fhir:display [ fhir:v "Hyper-IgM syndrome type 2" ] ] [ fhir:code [ fhir:v "101090" ] ; fhir:display [ fhir:v "Hyper-IgM syndrome type 3" ] ] [ fhir:code [ fhir:v "101091" ] ; fhir:display [ fhir:v "Hyper-IgM syndrome type 4" ] ] [ fhir:code [ fhir:v "101092" ] ; fhir:display [ fhir:v "Hyper-IgM syndrome type 5" ] ] [ fhir:code [ fhir:v "101096" ] ; fhir:display [ fhir:v "Aregenerative anemia" ] ] [ fhir:code [ fhir:v "101097" ] ; fhir:display [ fhir:v "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness" ] ] [ fhir:code [ fhir:v "101101" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2B2" ] ] [ fhir:code [ fhir:v "101102" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2H" ] ] [ fhir:code [ fhir:v "101104" ] ; fhir:display [ fhir:v "Marin-Amat syndrome" ] ] [ fhir:code [ fhir:v "101108" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 23" ] ] [ fhir:code [ fhir:v "101109" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 28" ] ] [ fhir:code [ fhir:v "101110" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 20" ] ] [ fhir:code [ fhir:v "101111" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 25" ] ] [ fhir:code [ fhir:v "101112" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 26" ] ] [ fhir:code [ fhir:v "101150" ] ; fhir:display [ fhir:v "Autosomal recessive dopa-responsive dystonia" ] ] [ fhir:code [ fhir:v "101206" ] ; fhir:display [ fhir:v "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome" ] ] [ fhir:code [ fhir:v "101330" ] ; fhir:display [ fhir:v "Porphyria cutanea tarda" ] ] [ fhir:code [ fhir:v "101334" ] ; fhir:display [ fhir:v "African tick typhus" ] ] [ fhir:code [ fhir:v "101351" ] ; fhir:display [ fhir:v "Familial isolated congenital asplenia" ] ] [ fhir:code [ fhir:v "1014" ] ; fhir:display [ fhir:v "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "101685" ] ; fhir:display [ fhir:v "Rare non-syndromic intellectual disability" ] ] [ fhir:code [ fhir:v "1018" ] ; fhir:display [ fhir:v "X-linked Alport syndrome-diffuse leiomyomatosis" ] ] [ fhir:code [ fhir:v "101932" ] ; fhir:display [ fhir:v "Anomaly of the mitral subvalvular apparatus" ] ] [ fhir:code [ fhir:v "102" ] ; fhir:display [ fhir:v "Multiple system atrophy" ] ] [ fhir:code [ fhir:v "1020" ] ; fhir:display [ fhir:v "Early-onset autosomal dominant Alzheimer disease" ] ] [ fhir:code [ fhir:v "1021" ] ; fhir:display [ fhir:v "Amaurosis-hypertrichosis syndrome" ] ] [ fhir:code [ fhir:v "1023" ] ; fhir:display [ fhir:v "Congenital generalized hypertrichosis, Ambras type" ] ] [ fhir:code [ fhir:v "102379" ] ; fhir:display [ fhir:v "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent" ] ] [ fhir:code [ fhir:v "102381" ] ; fhir:display [ fhir:v "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor" ] ] [ fhir:code [ fhir:v "1027" ] ; fhir:display [ fhir:v "Autosomal recessive amelia" ] ] [ fhir:code [ fhir:v "102724" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with t(8;21)(q22;q22) translocation" ] ] [ fhir:code [ fhir:v "1028" ] ; fhir:display [ fhir:v "Amelo-onycho-hypohidrotic syndrome" ] ] [ fhir:code [ fhir:v "1031" ] ; fhir:display [ fhir:v "Enamel-renal syndrome" ] ] [ fhir:code [ fhir:v "1035" ] ; fhir:display [ fhir:v "Beta-mercaptolactate cysteine disulfiduria" ] ] [ fhir:code [ fhir:v "103907" ] ; fhir:display [ fhir:v "Chronic diarrhea due to glucoamylase deficiency" ] ] [ fhir:code [ fhir:v "103908" ] ; fhir:display [ fhir:v "Congenital sodium diarrhea" ] ] [ fhir:code [ fhir:v "103909" ] ; fhir:display [ fhir:v "Trehalase deficiency" ] ] [ fhir:code [ fhir:v "103910" ] ; fhir:display [ fhir:v "Congenital enterocyte heparan sulfate deficiency" ] ] [ fhir:code [ fhir:v "103918" ] ; fhir:display [ fhir:v "Tropical pancreatitis" ] ] [ fhir:code [ fhir:v "103920" ] ; fhir:display [ fhir:v "Undetermined colitis" ] ] [ fhir:code [ fhir:v "104" ] ; fhir:display [ fhir:v "Leber hereditary optic neuropathy" ] ] [ fhir:code [ fhir:v "1040" ] ; fhir:display [ fhir:v "Metaphyseal anadysplasia" ] ] [ fhir:code [ fhir:v "104075" ] ; fhir:display [ fhir:v "Adenocarcinoma of the small intestine" ] ] [ fhir:code [ fhir:v "104076" ] ; fhir:display [ fhir:v "Leiomyosarcoma of small intestine" ] ] [ fhir:code [ fhir:v "104077" ] ; fhir:display [ fhir:v "Myopathic intestinal pseudoobstruction" ] ] [ fhir:code [ fhir:v "104078" ] ; fhir:display [ fhir:v "Unclassified intestinal pseudoobstruction" ] ] [ fhir:code [ fhir:v "1041" ] ; fhir:display [ fhir:v "Hydrops fetalis" ] ] [ fhir:code [ fhir:v "1046" ] ; fhir:display [ fhir:v "Lethal hemolytic anemia-genital anomalies syndrome" ] ] [ fhir:code [ fhir:v "1048" ] ; fhir:display [ fhir:v "Isolated anencephaly/exencephaly" ] ] [ fhir:code [ fhir:v "105" ] ; fhir:display [ fhir:v "Atresia of urethra" ] ] [ fhir:code [ fhir:v "1051" ] ; fhir:display [ fhir:v "Ramos-Arroyo syndrome" ] ] [ fhir:code [ fhir:v "1052" ] ; fhir:display [ fhir:v "Mosaic variegated aneuploidy syndrome" ] ] [ fhir:code [ fhir:v "1053" ] ; fhir:display [ fhir:v "Vein of Galen aneurysmal malformation" ] ] [ fhir:code [ fhir:v "1054" ] ; fhir:display [ fhir:v "Aneurysm of sinus of Valsalva" ] ] [ fhir:code [ fhir:v "1055" ] ; fhir:display [ fhir:v "Congenital left ventricular aneurysm" ] ] [ fhir:code [ fhir:v "1059" ] ; fhir:display [ fhir:v "Blue rubber bleb nevus" ] ] [ fhir:code [ fhir:v "1062" ] ; fhir:display [ fhir:v "Hereditary neurocutaneous malformation" ] ] [ fhir:code [ fhir:v "1063" ] ; fhir:display [ fhir:v "Tufted angioma" ] ] [ fhir:code [ fhir:v "1064" ] ; fhir:display [ fhir:v "Aniridia-renal agenesis-psychomotor retardation syndrome" ] ] [ fhir:code [ fhir:v "1065" ] ; fhir:display [ fhir:v "Aniridia-cerebellar ataxia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "1067" ] ; fhir:display [ fhir:v "Aniridia-ptosis-intellectual disability-familial obesity syndrome" ] ] [ fhir:code [ fhir:v "1068" ] ; fhir:display [ fhir:v "Aniridia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "1069" ] ; fhir:display [ fhir:v "Aniridia-absent patella syndrome" ] ] [ fhir:code [ fhir:v "107" ] ; fhir:display [ fhir:v "BOR syndrome" ] ] [ fhir:code [ fhir:v "1070" ] ; fhir:display [ fhir:v "Anisakiasis" ] ] [ fhir:code [ fhir:v "1071" ] ; fhir:display [ fhir:v "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" ] ] [ fhir:code [ fhir:v "1072" ] ; fhir:display [ fhir:v "Ankyloblepharon filiforme adnatum-cleft palate syndrome" ] ] [ fhir:code [ fhir:v "1074" ] ; fhir:display [ fhir:v "Ankyloblepharon filiforme adnatum-imperforate anus syndrome" ] ] [ fhir:code [ fhir:v "1077" ] ; fhir:display [ fhir:v "Dental ankylosis" ] ] [ fhir:code [ fhir:v "1078" ] ; fhir:display [ fhir:v "Thumb stiffness-brachydactyly-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "108" ] ; fhir:display [ fhir:v "Babesiosis" ] ] [ fhir:code [ fhir:v "1083" ] ; fhir:display [ fhir:v "Microlissencephaly" ] ] [ fhir:code [ fhir:v "1084" ] ; fhir:display [ fhir:v "Isolated lissencephaly type 1 without known genetic defects" ] ] [ fhir:code [ fhir:v "109" ] ; fhir:display [ fhir:v "Bannayan-Riley-Ruvalcaba syndrome" ] ] [ fhir:code [ fhir:v "1094" ] ; fhir:display [ fhir:v "Anonychia-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "11" ] ; fhir:display [ fhir:v "Pentasomy X" ] ] [ fhir:code [ fhir:v "110" ] ; fhir:display [ fhir:v "Bardet-Biedl syndrome" ] ] [ fhir:code [ fhir:v "1101" ] ; fhir:display [ fhir:v "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "1104" ] ; fhir:display [ fhir:v "Anophthalmia plus syndrome" ] ] [ fhir:code [ fhir:v "1106" ] ; fhir:display [ fhir:v "Microphthalmia with limb anomalies" ] ] [ fhir:code [ fhir:v "111" ] ; fhir:display [ fhir:v "Barth syndrome" ] ] [ fhir:code [ fhir:v "1110" ] ; fhir:display [ fhir:v "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "1112" ] ; fhir:display [ fhir:v "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome" ] ] [ fhir:code [ fhir:v "1113" ] ; fhir:display [ fhir:v "Aphalangy-syndactyly-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "1114" ] ; fhir:display [ fhir:v "Aplasia cutis congenita" ] ] [ fhir:code [ fhir:v "1116" ] ; fhir:display [ fhir:v "Aplasia cutis congenita-intestinal lymphangiectasia syndrome" ] ] [ fhir:code [ fhir:v "1117" ] ; fhir:display [ fhir:v "Aplasia cutis-myopia syndrome" ] ] [ fhir:code [ fhir:v "1118" ] ; fhir:display [ fhir:v "Fibular aplasia-ectrodactyly syndrome" ] ] [ fhir:code [ fhir:v "112" ] ; fhir:display [ fhir:v "Bartter syndrome" ] ] [ fhir:code [ fhir:v "1120" ] ; fhir:display [ fhir:v "Lung agenesis-heart defect-thumb anomalies syndrome" ] ] [ fhir:code [ fhir:v "1121" ] ; fhir:display [ fhir:v "Radial deficiency-tibial hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "1122" ] ; fhir:display [ fhir:v "Ulnar hypoplasia-split foot syndrome" ] ] [ fhir:code [ fhir:v "1123" ] ; fhir:display [ fhir:v "Caudal appendage-deafness syndrome" ] ] [ fhir:code [ fhir:v "1125" ] ; fhir:display [ fhir:v "Ocular motor apraxia, Cogan type" ] ] [ fhir:code [ fhir:v "1126" ] ; fhir:display [ fhir:v "Aprosencephaly cerebellar dysgenesis" ] ] [ fhir:code [ fhir:v "1129" ] ; fhir:display [ fhir:v "Arachnodactyly-abnormal ossification-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "113" ] ; fhir:display [ fhir:v "Bazex-Dupré-Christol syndrome" ] ] [ fhir:code [ fhir:v "1130" ] ; fhir:display [ fhir:v "Arachnodactyly-intellectual disability-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "1131" ] ; fhir:display [ fhir:v "X-linked mandibulofacial dysostosis" ] ] [ fhir:code [ fhir:v "1133" ] ; fhir:display [ fhir:v "AREDYLD syndrome" ] ] [ fhir:code [ fhir:v "1134" ] ; fhir:display [ fhir:v "Isolated arrhinia" ] ] [ fhir:code [ fhir:v "1135" ] ; fhir:display [ fhir:v "Arrhinia-choanal atresia-microphthalmia syndrome" ] ] [ fhir:code [ fhir:v "114" ] ; fhir:display [ fhir:v "Auriculoosteodysplasia" ] ] [ fhir:code [ fhir:v "1143" ] ; fhir:display [ fhir:v "Neurogenic arthrogryposis multiplex congenita" ] ] [ fhir:code [ fhir:v "1144" ] ; fhir:display [ fhir:v "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome" ] ] [ fhir:code [ fhir:v "1145" ] ; fhir:display [ fhir:v "Infantile-onset X-linked spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "1146" ] ; fhir:display [ fhir:v "Distal arthrogryposis type 1" ] ] [ fhir:code [ fhir:v "1147" ] ; fhir:display [ fhir:v "Sheldon-Hall syndrome" ] ] [ fhir:code [ fhir:v "1149" ] ; fhir:display [ fhir:v "Kuskokwim syndrome" ] ] [ fhir:code [ fhir:v "115" ] ; fhir:display [ fhir:v "Congenital contractural arachnodactyly" ] ] [ fhir:code [ fhir:v "1150" ] ; fhir:display [ fhir:v "Arthrogryposis multiplex congenita-whistling face syndrome" ] ] [ fhir:code [ fhir:v "1154" ] ; fhir:display [ fhir:v "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" ] ] [ fhir:code [ fhir:v "1159" ] ; fhir:display [ fhir:v "Progressive pseudorheumatoid arthropathy of childhood" ] ] [ fhir:code [ fhir:v "116" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome" ] ] [ fhir:code [ fhir:v "1160" ] ; fhir:display [ fhir:v "Chylous ascites" ] ] [ fhir:code [ fhir:v "1163" ] ; fhir:display [ fhir:v "Aspergillosis" ] ] [ fhir:code [ fhir:v "1164" ] ; fhir:display [ fhir:v "Allergic bronchopulmonary aspergillosis" ] ] [ fhir:code [ fhir:v "1166" ] ; fhir:display [ fhir:v "Congenital unilateral hypoplasia of depressor anguli oris" ] ] [ fhir:code [ fhir:v "1168" ] ; fhir:display [ fhir:v "Ataxia-oculomotor apraxia type 1" ] ] [ fhir:code [ fhir:v "117" ] ; fhir:display [ fhir:v "Behçet disease" ] ] [ fhir:code [ fhir:v "1170" ] ; fhir:display [ fhir:v "Autosomal recessive cerebelloparenchymal disorder type 3" ] ] [ fhir:code [ fhir:v "1171" ] ; fhir:display [ fhir:v "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" ] ] [ fhir:code [ fhir:v "1173" ] ; fhir:display [ fhir:v "Cerebellar ataxia-hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "1174" ] ; fhir:display [ fhir:v "Cerebellar ataxia-ectodermal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "1175" ] ; fhir:display [ fhir:v "X-linked progressive cerebellar ataxia" ] ] [ fhir:code [ fhir:v "1177" ] ; fhir:display [ fhir:v "Early-onset cerebellar ataxia with retained tendon reflexes" ] ] [ fhir:code [ fhir:v "1178" ] ; fhir:display [ fhir:v "Ataxia-tapetoretinal degeneration syndrome" ] ] [ fhir:code [ fhir:v "1179" ] ; fhir:display [ fhir:v "Benign paroxysmal tonic upgaze of childhood with ataxia" ] ] [ fhir:code [ fhir:v "118" ] ; fhir:display [ fhir:v "Beta-mannosidosis" ] ] [ fhir:code [ fhir:v "1180" ] ; fhir:display [ fhir:v "Ataxia-hypogonadism-choroidal dystrophy syndrome" ] ] [ fhir:code [ fhir:v "1182" ] ; fhir:display [ fhir:v "Spastic ataxia with congenital miosis" ] ] [ fhir:code [ fhir:v "1183" ] ; fhir:display [ fhir:v "Opsoclonus-myoclonus syndrome" ] ] [ fhir:code [ fhir:v "1184" ] ; fhir:display [ fhir:v "Ataxia-photosensitivity-short stature syndrome" ] ] [ fhir:code [ fhir:v "1185" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "1186" ] ; fhir:display [ fhir:v "Infantile-onset spinocerebellar ataxia" ] ] [ fhir:code [ fhir:v "1187" ] ; fhir:display [ fhir:v "Lethal ataxia with deafness and optic atrophy" ] ] [ fhir:code [ fhir:v "1188" ] ; fhir:display [ fhir:v "Ataxia-deafness-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "119" ] ; fhir:display [ fhir:v "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4" ] ] [ fhir:code [ fhir:v "1190" ] ; fhir:display [ fhir:v "Atelosteogenesis type I" ] ] [ fhir:code [ fhir:v "1192" ] ; fhir:display [ fhir:v "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome" ] ] [ fhir:code [ fhir:v "1193" ] ; fhir:display [ fhir:v "Atkin-Flaitz syndrome" ] ] [ fhir:code [ fhir:v "1194" ] ; fhir:display [ fhir:v "TMEM70-related mitochondrial encephalo-cardio-myopathy" ] ] [ fhir:code [ fhir:v "1195" ] ; fhir:display [ fhir:v "Congenital atransferrinemia" ] ] [ fhir:code [ fhir:v "1198" ] ; fhir:display [ fhir:v "Colonic atresia" ] ] [ fhir:code [ fhir:v "1199" ] ; fhir:display [ fhir:v "Esophageal atresia" ] ] [ fhir:code [ fhir:v "1200" ] ; fhir:display [ fhir:v "Burn-McKeown syndrome" ] ] [ fhir:code [ fhir:v "1201" ] ; fhir:display [ fhir:v "Small bowel atresia" ] ] [ fhir:code [ fhir:v "1202" ] ; fhir:display [ fhir:v "Larynx atresia" ] ] [ fhir:code [ fhir:v "1203" ] ; fhir:display [ fhir:v "Duodenal atresia" ] ] [ fhir:code [ fhir:v "1205" ] ; fhir:display [ fhir:v "Mitral atresia" ] ] [ fhir:code [ fhir:v "1207" ] ; fhir:display [ fhir:v "Pulmonary atresia with ventricular septal defect" ] ] [ fhir:code [ fhir:v "1208" ] ; fhir:display [ fhir:v "Pulmonary atresia-intact ventricular septum syndrome" ] ] [ fhir:code [ fhir:v "1209" ] ; fhir:display [ fhir:v "Tricuspid atresia" ] ] [ fhir:code [ fhir:v "1214" ] ; fhir:display [ fhir:v "Progressive hemifacial atrophy" ] ] [ fhir:code [ fhir:v "1215" ] ; fhir:display [ fhir:v "Autosomal dominant optic atrophy plus syndrome" ] ] [ fhir:code [ fhir:v "1216" ] ; fhir:display [ fhir:v "Autosomal dominant congenital benign spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "1217" ] ; fhir:display [ fhir:v "Spinal atrophy-ophthalmoplegia-pyramidal syndrome" ] ] [ fhir:code [ fhir:v "122" ] ; fhir:display [ fhir:v "Birt-Hogg-Dubé syndrome" ] ] [ fhir:code [ fhir:v "1221" ] ; fhir:display [ fhir:v "Cheilitis glandularis" ] ] [ fhir:code [ fhir:v "1223" ] ; fhir:display [ fhir:v "Balantidiasis" ] ] [ fhir:code [ fhir:v "1225" ] ; fhir:display [ fhir:v "Baller-Gerold syndrome" ] ] [ fhir:code [ fhir:v "1226" ] ; fhir:display [ fhir:v "Bamforth-Lazarus syndrome" ] ] [ fhir:code [ fhir:v "1227" ] ; fhir:display [ fhir:v "Bangstad syndrome" ] ] [ fhir:code [ fhir:v "1228" ] ; fhir:display [ fhir:v "Banki syndrome" ] ] [ fhir:code [ fhir:v "1229" ] ; fhir:display [ fhir:v "Congenital intrauterine infection-like syndrome" ] ] [ fhir:code [ fhir:v "123" ] ; fhir:display [ fhir:v "Björnstad syndrome" ] ] [ fhir:code [ fhir:v "1231" ] ; fhir:display [ fhir:v "Barber-Say syndrome" ] ] [ fhir:code [ fhir:v "1234" ] ; fhir:display [ fhir:v "Bartsocas-Papas syndrome" ] ] [ fhir:code [ fhir:v "1236" ] ; fhir:display [ fhir:v "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" ] ] [ fhir:code [ fhir:v "1237" ] ; fhir:display [ fhir:v "Beemer-Ertbruggen syndrome" ] ] [ fhir:code [ fhir:v "124" ] ; fhir:display [ fhir:v "Diamond-Blackfan anemia" ] ] [ fhir:code [ fhir:v "1240" ] ; fhir:display [ fhir:v "Metaphyseal acroscyphodysplasia" ] ] [ fhir:code [ fhir:v "1241" ] ; fhir:display [ fhir:v "Bencze syndrome" ] ] [ fhir:code [ fhir:v "1243" ] ; fhir:display [ fhir:v "Best vitelliform macular dystrophy" ] ] [ fhir:code [ fhir:v "1246" ] ; fhir:display [ fhir:v "Brachydactyly-nystagmus-cerebellar ataxia syndrome" ] ] [ fhir:code [ fhir:v "1247" ] ; fhir:display [ fhir:v "Schistosomiasis" ] ] [ fhir:code [ fhir:v "1248" ] ; fhir:display [ fhir:v "Maxillonasal dysplasia" ] ] [ fhir:code [ fhir:v "125" ] ; fhir:display [ fhir:v "Bloom syndrome" ] ] [ fhir:code [ fhir:v "1252" ] ; fhir:display [ fhir:v "Blepharonasofacial malformation syndrome" ] ] [ fhir:code [ fhir:v "1253" ] ; fhir:display [ fhir:v "Ascher syndrome" ] ] [ fhir:code [ fhir:v "1259" ] ; fhir:display [ fhir:v "Blepharoptosis-myopia-ectopia lentis syndrome" ] ] [ fhir:code [ fhir:v "126" ] ; fhir:display [ fhir:v "Blepharophimosis-ptosis-epicanthus inversus syndrome" ] ] [ fhir:code [ fhir:v "1261" ] ; fhir:display [ fhir:v "Bonnemann-Meinecke-Reich syndrome" ] ] [ fhir:code [ fhir:v "1262" ] ; fhir:display [ fhir:v "Böök syndrome" ] ] [ fhir:code [ fhir:v "1263" ] ; fhir:display [ fhir:v "Boomerang dysplasia" ] ] [ fhir:code [ fhir:v "1264" ] ; fhir:display [ fhir:v "Tricho-retino-dento-digital syndrome" ] ] [ fhir:code [ fhir:v "1267" ] ; fhir:display [ fhir:v "Botulism" ] ] [ fhir:code [ fhir:v "127" ] ; fhir:display [ fhir:v "Borjeson-Forssman-Lehmann syndrome" ] ] [ fhir:code [ fhir:v "1270" ] ; fhir:display [ fhir:v "Bowen-Conradi syndrome" ] ] [ fhir:code [ fhir:v "1272" ] ; fhir:display [ fhir:v "Aymé-Gripp syndrome" ] ] [ fhir:code [ fhir:v "1275" ] ; fhir:display [ fhir:v "Brachydactyly-elbow wrist dysplasia syndrome" ] ] [ fhir:code [ fhir:v "1276" ] ; fhir:display [ fhir:v "Brachydactyly-arterial hypertension syndrome" ] ] [ fhir:code [ fhir:v "1277" ] ; fhir:display [ fhir:v "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome" ] ] [ fhir:code [ fhir:v "1278" ] ; fhir:display [ fhir:v "Brachydactyly-preaxial hallux varus syndrome" ] ] [ fhir:code [ fhir:v "128" ] ; fhir:display [ fhir:v "Diphyllobothriasis" ] ] [ fhir:code [ fhir:v "129" ] ; fhir:display [ fhir:v "Pseudopelade of Brocq" ] ] [ fhir:code [ fhir:v "1292" ] ; fhir:display [ fhir:v "Brachymorphism-onychodysplasia-dysphalangism syndrome" ] ] [ fhir:code [ fhir:v "1295" ] ; fhir:display [ fhir:v "Brachytelephalangy-dysmorphism-Kallmann syndrome" ] ] [ fhir:code [ fhir:v "1296" ] ; fhir:display [ fhir:v "Lambert syndrome" ] ] [ fhir:code [ fhir:v "1297" ] ; fhir:display [ fhir:v "Branchio-oculo-facial syndrome" ] ] [ fhir:code [ fhir:v "1299" ] ; fhir:display [ fhir:v "Branchioskeletogenital syndrome" ] ] [ fhir:code [ fhir:v "13" ] ; fhir:display [ fhir:v "6-pyruvoyl-tetrahydropterin synthase deficiency" ] ] [ fhir:code [ fhir:v "130" ] ; fhir:display [ fhir:v "Brugada syndrome" ] ] [ fhir:code [ fhir:v "1300" ] ; fhir:display [ fhir:v "Autosomal dominant popliteal pterygium syndrome" ] ] [ fhir:code [ fhir:v "1302" ] ; fhir:display [ fhir:v "Cryptogenic organizing pneumonia" ] ] [ fhir:code [ fhir:v "1303" ] ; fhir:display [ fhir:v "Bronchiolitis obliterans with obstructive pulmonary disease" ] ] [ fhir:code [ fhir:v "1304" ] ; fhir:display [ fhir:v "Brucellosis" ] ] [ fhir:code [ fhir:v "1305" ] ; fhir:display [ fhir:v "Feingold syndrome" ] ] [ fhir:code [ fhir:v "1307" ] ; fhir:display [ fhir:v "Distal limb deficiencies-micrognathia syndrome" ] ] [ fhir:code [ fhir:v "1308" ] ; fhir:display [ fhir:v "C syndrome" ] ] [ fhir:code [ fhir:v "1309" ] ; fhir:display [ fhir:v "Medullary sponge kidney" ] ] [ fhir:code [ fhir:v "131" ] ; fhir:display [ fhir:v "Budd-Chiari syndrome" ] ] [ fhir:code [ fhir:v "1310" ] ; fhir:display [ fhir:v "Caffey disease" ] ] [ fhir:code [ fhir:v "1313" ] ; fhir:display [ fhir:v "Infantile choroidocerebral calcification syndrome" ] ] [ fhir:code [ fhir:v "1314" ] ; fhir:display [ fhir:v "Symmetrical thalamic calcifications" ] ] [ fhir:code [ fhir:v "1318" ] ; fhir:display [ fhir:v "Campomelia, Cumming type" ] ] [ fhir:code [ fhir:v "1319" ] ; fhir:display [ fhir:v "Camptobrachydactyly" ] ] [ fhir:code [ fhir:v "132" ] ; fhir:display [ fhir:v "Butyrylcholinesterase deficiency" ] ] [ fhir:code [ fhir:v "1320" ] ; fhir:display [ fhir:v "Idiopathic camptocormia" ] ] [ fhir:code [ fhir:v "1321" ] ; fhir:display [ fhir:v "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "1323" ] ; fhir:display [ fhir:v "Camptodactyly-joint contractures-facial skeletal defects syndrome" ] ] [ fhir:code [ fhir:v "1325" ] ; fhir:display [ fhir:v "Camptodactyly-taurinuria syndrome" ] ] [ fhir:code [ fhir:v "1326" ] ; fhir:display [ fhir:v "Camptodactyly syndrome, Guadalajara type 2" ] ] [ fhir:code [ fhir:v "1327" ] ; fhir:display [ fhir:v "Camptodactyly syndrome, Guadalajara type 1" ] ] [ fhir:code [ fhir:v "1328" ] ; fhir:display [ fhir:v "Camurati-Engelmann disease" ] ] [ fhir:code [ fhir:v "1329" ] ; fhir:display [ fhir:v "Complete atrioventricular septal defect" ] ] [ fhir:code [ fhir:v "133" ] ; fhir:display [ fhir:v "Chronic beryllium disease" ] ] [ fhir:code [ fhir:v "1330" ] ; fhir:display [ fhir:v "Partial atrioventricular septal defect" ] ] [ fhir:code [ fhir:v "1331" ] ; fhir:display [ fhir:v "Familial prostate cancer" ] ] [ fhir:code [ fhir:v "1332" ] ; fhir:display [ fhir:v "Medullary thyroid carcinoma" ] ] [ fhir:code [ fhir:v "1333" ] ; fhir:display [ fhir:v "Familial pancreatic carcinoma" ] ] [ fhir:code [ fhir:v "1334" ] ; fhir:display [ fhir:v "Chronic mucocutaneous candidiasis" ] ] [ fhir:code [ fhir:v "1335" ] ; fhir:display [ fhir:v "Pentalogy of Cantrell" ] ] [ fhir:code [ fhir:v "1336" ] ; fhir:display [ fhir:v "Hyperkeratosis-hyperpigmentation syndrome" ] ] [ fhir:code [ fhir:v "1338" ] ; fhir:display [ fhir:v "Heart defect-tongue hamartoma-polysyndactyly syndrome" ] ] [ fhir:code [ fhir:v "134" ] ; fhir:display [ fhir:v "Beta-ketothiolase deficiency" ] ] [ fhir:code [ fhir:v "1340" ] ; fhir:display [ fhir:v "Cardiofaciocutaneous syndrome" ] ] [ fhir:code [ fhir:v "1342" ] ; fhir:display [ fhir:v "Heart-hand syndrome type 3" ] ] [ fhir:code [ fhir:v "1344" ] ; fhir:display [ fhir:v "Atrial standstill" ] ] [ fhir:code [ fhir:v "1345" ] ; fhir:display [ fhir:v "Cardiomyopathy-cataract-hip spine disease syndrome" ] ] [ fhir:code [ fhir:v "1349" ] ; fhir:display [ fhir:v "Mitochondrial DNA-related cardiomyopathy and hearing loss" ] ] [ fhir:code [ fhir:v "135" ] ; fhir:display [ fhir:v "CACH syndrome" ] ] [ fhir:code [ fhir:v "1350" ] ; fhir:display [ fhir:v "Heart-hand syndrome type 2" ] ] [ fhir:code [ fhir:v "1352" ] ; fhir:display [ fhir:v "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome" ] ] [ fhir:code [ fhir:v "1354" ] ; fhir:display [ fhir:v "Heart defects-limb shortening syndrome" ] ] [ fhir:code [ fhir:v "1355" ] ; fhir:display [ fhir:v "Congenital heart defect-round face-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "1358" ] ; fhir:display [ fhir:v "Carey-Fineman-Ziter syndrome" ] ] [ fhir:code [ fhir:v "1359" ] ; fhir:display [ fhir:v "Carney complex" ] ] [ fhir:code [ fhir:v "136" ] ; fhir:display [ fhir:v "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy" ] ] [ fhir:code [ fhir:v "1361" ] ; fhir:display [ fhir:v "Carnosinase deficiency" ] ] [ fhir:code [ fhir:v "1366" ] ; fhir:display [ fhir:v "Autosomal recessive palmoplantar keratoderma and congenital alopecia" ] ] [ fhir:code [ fhir:v "1368" ] ; fhir:display [ fhir:v "Cataract-ataxia-deafness syndrome" ] ] [ fhir:code [ fhir:v "1369" ] ; fhir:display [ fhir:v "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" ] ] [ fhir:code [ fhir:v "1373" ] ; fhir:display [ fhir:v "Cataract-aberrant oral frenula-growth delay syndrome" ] ] [ fhir:code [ fhir:v "1375" ] ; fhir:display [ fhir:v "Cataract-hypertrichosis-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "137577" ] ; fhir:display [ fhir:v "Neonatal hypoxic and ischemic brain injury" ] ] [ fhir:code [ fhir:v "137583" ] ; fhir:display [ fhir:v "Vulvar intraepithelial neoplasia" ] ] [ fhir:code [ fhir:v "137593" ] ; fhir:display [ fhir:v "Infectious epithelial keratitis" ] ] [ fhir:code [ fhir:v "137596" ] ; fhir:display [ fhir:v "Neurotrophic keratopathy" ] ] [ fhir:code [ fhir:v "137599" ] ; fhir:display [ fhir:v "Herpes simplex virus stromal keratitis" ] ] [ fhir:code [ fhir:v "137602" ] ; fhir:display [ fhir:v "Corneal endotheliitis" ] ] [ fhir:code [ fhir:v "137605" ] ; fhir:display [ fhir:v "Legius syndrome" ] ] [ fhir:code [ fhir:v "137608" ] ; fhir:display [ fhir:v "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome" ] ] [ fhir:code [ fhir:v "137617" ] ; fhir:display [ fhir:v "Nephrogenic systemic fibrosis" ] ] [ fhir:code [ fhir:v "137622" ] ; fhir:display [ fhir:v "Intractable diarrhea-choanal atresia-eye anomalies syndrome" ] ] [ fhir:code [ fhir:v "137625" ] ; fhir:display [ fhir:v "Glycogen storage disease due to muscle and heart glycogen synthase deficiency" ] ] [ fhir:code [ fhir:v "137628" ] ; fhir:display [ fhir:v "Cardiac anomalies-heterotaxy syndrome" ] ] [ fhir:code [ fhir:v "137631" ] ; fhir:display [ fhir:v "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" ] ] [ fhir:code [ fhir:v "137634" ] ; fhir:display [ fhir:v "Overgrowth-macrocephaly-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "137639" ] ; fhir:display [ fhir:v "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome" ] ] [ fhir:code [ fhir:v "137667" ] ; fhir:display [ fhir:v "Capillary malformation-arteriovenous malformation" ] ] [ fhir:code [ fhir:v "137672" ] ; fhir:display [ fhir:v "Pellucid marginal degeneration" ] ] [ fhir:code [ fhir:v "137675" ] ; fhir:display [ fhir:v "Histiocytoid cardiomyopathy" ] ] [ fhir:code [ fhir:v "137678" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia with metatarsal shortening" ] ] [ fhir:code [ fhir:v "137681" ] ; fhir:display [ fhir:v "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" ] ] [ fhir:code [ fhir:v "137686" ] ; fhir:display [ fhir:v "Asherman syndrome" ] ] [ fhir:code [ fhir:v "137698" ] ; fhir:display [ fhir:v "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk" ] ] [ fhir:code [ fhir:v "1377" ] ; fhir:display [ fhir:v "Cataract-microcornea syndrome" ] ] [ fhir:code [ fhir:v "137754" ] ; fhir:display [ fhir:v "Neurological conditions associated with aminoacylase 1 deficiency" ] ] [ fhir:code [ fhir:v "137776" ] ; fhir:display [ fhir:v "Lethal congenital contracture syndrome type 2" ] ] [ fhir:code [ fhir:v "137783" ] ; fhir:display [ fhir:v "Lethal congenital contracture syndrome type 3" ] ] [ fhir:code [ fhir:v "137810" ] ; fhir:display [ fhir:v "Nodular cutaneous amyloidosis" ] ] [ fhir:code [ fhir:v "137814" ] ; fhir:display [ fhir:v "Macular amyloidosis" ] ] [ fhir:code [ fhir:v "137817" ] ; fhir:display [ fhir:v "Arachnoiditis" ] ] [ fhir:code [ fhir:v "137820" ] ; fhir:display [ fhir:v "Extrapelvic endometriosis" ] ] [ fhir:code [ fhir:v "137831" ] ; fhir:display [ fhir:v "X-linked intellectual disability-cerebellar hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "137834" ] ; fhir:display [ fhir:v "Frank-Ter Haar syndrome" ] ] [ fhir:code [ fhir:v "137839" ] ; fhir:display [ fhir:v "Lemierre syndrome" ] ] [ fhir:code [ fhir:v "137867" ] ; fhir:display [ fhir:v "Madras motor neuron disease" ] ] [ fhir:code [ fhir:v "137888" ] ; fhir:display [ fhir:v "Auriculocondylar syndrome" ] ] [ fhir:code [ fhir:v "137893" ] ; fhir:display [ fhir:v "Male infertility due to large-headed multiflagellar polyploid spermatozoa" ] ] [ fhir:code [ fhir:v "137898" ] ; fhir:display [ fhir:v "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" ] ] [ fhir:code [ fhir:v "137908" ] ; fhir:display [ fhir:v "Hypotonia with lactic acidemia and hyperammonemia" ] ] [ fhir:code [ fhir:v "137914" ] ; fhir:display [ fhir:v "Choanal atresia" ] ] [ fhir:code [ fhir:v "137917" ] ; fhir:display [ fhir:v "Choanal atresia, unilateral" ] ] [ fhir:code [ fhir:v "137920" ] ; fhir:display [ fhir:v "Choanal atresia, bilateral" ] ] [ fhir:code [ fhir:v "137926" ] ; fhir:display [ fhir:v "Primary laryngeal lymphangioma" ] ] [ fhir:code [ fhir:v "137929" ] ; fhir:display [ fhir:v "Neonatal brainstem dysfunction" ] ] [ fhir:code [ fhir:v "137932" ] ; fhir:display [ fhir:v "Congenital laryngeal palsy" ] ] [ fhir:code [ fhir:v "137935" ] ; fhir:display [ fhir:v "Laryngotracheal angioma" ] ] [ fhir:code [ fhir:v "138" ] ; fhir:display [ fhir:v "CHARGE syndrome" ] ] [ fhir:code [ fhir:v "1380" ] ; fhir:display [ fhir:v "Cataract-nephropathy-encephalopathy syndrome" ] ] [ fhir:code [ fhir:v "1381" ] ; fhir:display [ fhir:v "Cataract-intellectual disability-anal atresia-urinary defects syndrome" ] ] [ fhir:code [ fhir:v "1383" ] ; fhir:display [ fhir:v "Cataract-deafness-hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "1387" ] ; fhir:display [ fhir:v "Cataract-intellectual disability-hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "1388" ] ; fhir:display [ fhir:v "Catel-Manzke syndrome" ] ] [ fhir:code [ fhir:v "1389" ] ; fhir:display [ fhir:v "Cortical blindness-intellectual disability-polydactyly syndrome" ] ] [ fhir:code [ fhir:v "139" ] ; fhir:display [ fhir:v "CHILD syndrome" ] ] [ fhir:code [ fhir:v "1390" ] ; fhir:display [ fhir:v "Night blindness-skeletal anomalies-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "1393" ] ; fhir:display [ fhir:v "Cerebrocostomandibular syndrome" ] ] [ fhir:code [ fhir:v "139396" ] ; fhir:display [ fhir:v "X-linked cerebral adrenoleukodystrophy" ] ] [ fhir:code [ fhir:v "139399" ] ; fhir:display [ fhir:v "Adrenomyeloneuropathy" ] ] [ fhir:code [ fhir:v "1394" ] ; fhir:display [ fhir:v "Cerebrofaciothoracic dysplasia" ] ] [ fhir:code [ fhir:v "139402" ] ; fhir:display [ fhir:v "Drug reaction with eosinophilia and systemic symptoms" ] ] [ fhir:code [ fhir:v "139406" ] ; fhir:display [ fhir:v "Encephalopathy due to prosaposin deficiency" ] ] [ fhir:code [ fhir:v "139411" ] ; fhir:display [ fhir:v "Carney triad" ] ] [ fhir:code [ fhir:v "139414" ] ; fhir:display [ fhir:v "Congenital panfollicular nevus" ] ] [ fhir:code [ fhir:v "139417" ] ; fhir:display [ fhir:v "Acute transverse myelitis" ] ] [ fhir:code [ fhir:v "139423" ] ; fhir:display [ fhir:v "Idiopathic acute transverse myelitis" ] ] [ fhir:code [ fhir:v "139426" ] ; fhir:display [ fhir:v "Perioral myoclonia with absences" ] ] [ fhir:code [ fhir:v "139431" ] ; fhir:display [ fhir:v "Jeavons syndrome" ] ] [ fhir:code [ fhir:v "139436" ] ; fhir:display [ fhir:v "Multicentric reticulohistiocytosis" ] ] [ fhir:code [ fhir:v "139441" ] ; fhir:display [ fhir:v "Hypomyelination with atrophy of basal ganglia and cerebellum" ] ] [ fhir:code [ fhir:v "139444" ] ; fhir:display [ fhir:v "Leukoencephalopathy with bilateral anterior temporal lobe cysts" ] ] [ fhir:code [ fhir:v "139447" ] ; fhir:display [ fhir:v "Progressive cavitating leukoencephalopathy" ] ] [ fhir:code [ fhir:v "139450" ] ; fhir:display [ fhir:v "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome" ] ] [ fhir:code [ fhir:v "139455" ] ; fhir:display [ fhir:v "Autosomal recessive bestrophinopathy" ] ] [ fhir:code [ fhir:v "139466" ] ; fhir:display [ fhir:v "SERKAL syndrome" ] ] [ fhir:code [ fhir:v "139471" ] ; fhir:display [ fhir:v "Microphthalmia with brain and digit anomalies" ] ] [ fhir:code [ fhir:v "139474" ] ; fhir:display [ fhir:v "17q11.2 microduplication syndrome" ] ] [ fhir:code [ fhir:v "139480" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 39" ] ] [ fhir:code [ fhir:v "139485" ] ; fhir:display [ fhir:v "Autosomal recessive ataxia due to ubiquinone deficiency" ] ] [ fhir:code [ fhir:v "139507" ] ; fhir:display [ fhir:v "Dietary iron overload disease" ] ] [ fhir:code [ fhir:v "139512" ] ; fhir:display [ fhir:v "Neuropathy with hearing impairment" ] ] [ fhir:code [ fhir:v "139515" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4J" ] ] [ fhir:code [ fhir:v "139518" ] ; fhir:display [ fhir:v "Distal hereditary motor neuropathy type 1" ] ] [ fhir:code [ fhir:v "139525" ] ; fhir:display [ fhir:v "Distal hereditary motor neuropathy type 2" ] ] [ fhir:code [ fhir:v "139536" ] ; fhir:display [ fhir:v "Distal hereditary motor neuropathy type 5" ] ] [ fhir:code [ fhir:v "139547" ] ; fhir:display [ fhir:v "Distal spinal muscular atrophy type 3" ] ] [ fhir:code [ fhir:v "139552" ] ; fhir:display [ fhir:v "Distal hereditary motor neuropathy, Jerash type" ] ] [ fhir:code [ fhir:v "139557" ] ; fhir:display [ fhir:v "X-linked distal spinal muscular atrophy type 3" ] ] [ fhir:code [ fhir:v "139564" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 1B" ] ] [ fhir:code [ fhir:v "139573" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy with deafness and global delay" ] ] [ fhir:code [ fhir:v "139578" ] ; fhir:display [ fhir:v "Mutilating hereditary sensory neuropathy with spastic paraplegia" ] ] [ fhir:code [ fhir:v "139583" ] ; fhir:display [ fhir:v "X-linked hereditary sensory and autonomic neuropathy with deafness" ] ] [ fhir:code [ fhir:v "139589" ] ; fhir:display [ fhir:v "Distal hereditary motor neuropathy type 7" ] ] [ fhir:code [ fhir:v "1397" ] ; fhir:display [ fhir:v "Hydrocephaly-cerebellar agenesis syndrome" ] ] [ fhir:code [ fhir:v "1398" ] ; fhir:display [ fhir:v "Isolated cerebellar agenesis" ] ] [ fhir:code [ fhir:v "1399" ] ; fhir:display [ fhir:v "Richards-Rundle syndrome" ] ] [ fhir:code [ fhir:v "14" ] ; fhir:display [ fhir:v "Abetalipoproteinemia" ] ] [ fhir:code [ fhir:v "140" ] ; fhir:display [ fhir:v "Campomelic dysplasia" ] ] [ fhir:code [ fhir:v "1401" ] ; fhir:display [ fhir:v "CHAND syndrome" ] ] [ fhir:code [ fhir:v "140286" ] ; fhir:display [ fhir:v "Secondary hypoparathyroidism due to impaired parathormon secretion" ] ] [ fhir:code [ fhir:v "140436" ] ; fhir:display [ fhir:v "Primary intraosseous venous malformation" ] ] [ fhir:code [ fhir:v "140481" ] ; fhir:display [ fhir:v "Autosomal dominant slowed nerve conduction velocity" ] ] [ fhir:code [ fhir:v "1406" ] ; fhir:display [ fhir:v "Charlie M syndrome" ] ] [ fhir:code [ fhir:v "140896" ] ; fhir:display [ fhir:v "Severe acute respiratory syndrome" ] ] [ fhir:code [ fhir:v "140905" ] ; fhir:display [ fhir:v "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency" ] ] [ fhir:code [ fhir:v "140908" ] ; fhir:display [ fhir:v "Brachydactyly type B2" ] ] [ fhir:code [ fhir:v "140917" ] ; fhir:display [ fhir:v "Stapes ankylosis with broad thumbs and toes" ] ] [ fhir:code [ fhir:v "140922" ] ; fhir:display [ fhir:v "Titin-related limb-girdle muscular dystrophy R10" ] ] [ fhir:code [ fhir:v "140927" ] ; fhir:display [ fhir:v "Benign familial neonatal-infantile seizures" ] ] [ fhir:code [ fhir:v "140933" ] ; fhir:display [ fhir:v "Linear atrophoderma of Moulin" ] ] [ fhir:code [ fhir:v "140936" ] ; fhir:display [ fhir:v "Lelis syndrome" ] ] [ fhir:code [ fhir:v "140941" ] ; fhir:display [ fhir:v "Short stature due to primary acid-labile subunit deficiency" ] ] [ fhir:code [ fhir:v "140944" ] ; fhir:display [ fhir:v "CLOVES syndrome" ] ] [ fhir:code [ fhir:v "140949" ] ; fhir:display [ fhir:v "Low-flow priapism" ] ] [ fhir:code [ fhir:v "140952" ] ; fhir:display [ fhir:v "Syndactyly-telecanthus-anogenital and renal malformations syndrome" ] ] [ fhir:code [ fhir:v "140957" ] ; fhir:display [ fhir:v "Autosomal dominant macrothrombocytopenia" ] ] [ fhir:code [ fhir:v "140963" ] ; fhir:display [ fhir:v "Bilateral microtia-deafness-cleft palate syndrome" ] ] [ fhir:code [ fhir:v "140966" ] ; fhir:display [ fhir:v "Palmoplantar keratoderma, Nagashima type" ] ] [ fhir:code [ fhir:v "140969" ] ; fhir:display [ fhir:v "Saldino-Mainzer syndrome" ] ] [ fhir:code [ fhir:v "140976" ] ; fhir:display [ fhir:v "RHYNS syndrome" ] ] [ fhir:code [ fhir:v "140989" ] ; fhir:display [ fhir:v "Primary angiitis of the central nervous system" ] ] [ fhir:code [ fhir:v "141" ] ; fhir:display [ fhir:v "Canavan disease" ] ] [ fhir:code [ fhir:v "1410" ] ; fhir:display [ fhir:v "Uncombable hair syndrome" ] ] [ fhir:code [ fhir:v "141000" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 11" ] ] [ fhir:code [ fhir:v "141007" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 9" ] ] [ fhir:code [ fhir:v "141013" ] ; fhir:display [ fhir:v "First branchial cleft anomaly" ] ] [ fhir:code [ fhir:v "141022" ] ; fhir:display [ fhir:v "Second branchial cleft anomaly" ] ] [ fhir:code [ fhir:v "141030" ] ; fhir:display [ fhir:v "Third branchial cleft anomaly" ] ] [ fhir:code [ fhir:v "141037" ] ; fhir:display [ fhir:v "Fourth branchial cleft anomaly" ] ] [ fhir:code [ fhir:v "141046" ] ; fhir:display [ fhir:v "Cervical dermoid cyst" ] ] [ fhir:code [ fhir:v "141051" ] ; fhir:display [ fhir:v "Facial dermoid cyst" ] ] [ fhir:code [ fhir:v "141061" ] ; fhir:display [ fhir:v "Commissural lip fistula" ] ] [ fhir:code [ fhir:v "141064" ] ; fhir:display [ fhir:v "Lower lip fistula" ] ] [ fhir:code [ fhir:v "141067" ] ; fhir:display [ fhir:v "Cervicofacial fibrochondroma" ] ] [ fhir:code [ fhir:v "141071" ] ; fhir:display [ fhir:v "Digestive duplication cyst of the tongue" ] ] [ fhir:code [ fhir:v "141074" ] ; fhir:display [ fhir:v "External auditory canal aplasia/hypoplasia" ] ] [ fhir:code [ fhir:v "141077" ] ; fhir:display [ fhir:v "Epignathus" ] ] [ fhir:code [ fhir:v "141083" ] ; fhir:display [ fhir:v "Nasolacrimal duct cyst" ] ] [ fhir:code [ fhir:v "141091" ] ; fhir:display [ fhir:v "Polyrrhinia" ] ] [ fhir:code [ fhir:v "141096" ] ; fhir:display [ fhir:v "Supernumerary nostril" ] ] [ fhir:code [ fhir:v "141099" ] ; fhir:display [ fhir:v "Proboscis lateralis" ] ] [ fhir:code [ fhir:v "141103" ] ; fhir:display [ fhir:v "Nasal dermoid cyst" ] ] [ fhir:code [ fhir:v "141107" ] ; fhir:display [ fhir:v "Nasopharyngeal teratoma" ] ] [ fhir:code [ fhir:v "141112" ] ; fhir:display [ fhir:v "Nasal glial heterotopia" ] ] [ fhir:code [ fhir:v "141115" ] ; fhir:display [ fhir:v "Nasal ganglioglioma" ] ] [ fhir:code [ fhir:v "141118" ] ; fhir:display [ fhir:v "Nasal encephalocele" ] ] [ fhir:code [ fhir:v "141121" ] ; fhir:display [ fhir:v "Congenital subglottic stenosis" ] ] [ fhir:code [ fhir:v "141124" ] ; fhir:display [ fhir:v "Congenital laryngeal cyst" ] ] [ fhir:code [ fhir:v "141127" ] ; fhir:display [ fhir:v "Congenital tracheal stenosis" ] ] [ fhir:code [ fhir:v "141132" ] ; fhir:display [ fhir:v "Oculo-auriculo-vertebral spectrum" ] ] [ fhir:code [ fhir:v "141145" ] ; fhir:display [ fhir:v "Hemifacial hyperplasia" ] ] [ fhir:code [ fhir:v "141148" ] ; fhir:display [ fhir:v "Hemifacial myohyperplasia" ] ] [ fhir:code [ fhir:v "141152" ] ; fhir:display [ fhir:v "Isolated congenital hypoglossia/aglossia" ] ] [ fhir:code [ fhir:v "141163" ] ; fhir:display [ fhir:v "Glossopalatine ankylosis" ] ] [ fhir:code [ fhir:v "141168" ] ; fhir:display [ fhir:v "Frontonasal arteriovenous malformation" ] ] [ fhir:code [ fhir:v "141171" ] ; fhir:display [ fhir:v "Maxillary arteriovenous malformation" ] ] [ fhir:code [ fhir:v "141174" ] ; fhir:display [ fhir:v "Mandibular arteriovenous malformation" ] ] [ fhir:code [ fhir:v "141179" ] ; fhir:display [ fhir:v "Non-involuting congenital hemangioma" ] ] [ fhir:code [ fhir:v "141184" ] ; fhir:display [ fhir:v "Rapidly involuting congenital hemangioma" ] ] [ fhir:code [ fhir:v "141194" ] ; fhir:display [ fhir:v "Cerebrofacial arteriovenous metameric syndrome type 1" ] ] [ fhir:code [ fhir:v "141199" ] ; fhir:display [ fhir:v "Cerebrofacial arteriovenous metameric syndrome type 3" ] ] [ fhir:code [ fhir:v "1412" ] ; fhir:display [ fhir:v "Tarsal-carpal coalition syndrome" ] ] [ fhir:code [ fhir:v "141209" ] ; fhir:display [ fhir:v "Diffuse lymphatic malformation" ] ] [ fhir:code [ fhir:v "141214" ] ; fhir:display [ fhir:v "Isolated congenital syngnathia" ] ] [ fhir:code [ fhir:v "141219" ] ; fhir:display [ fhir:v "Nasal dorsum fistula" ] ] [ fhir:code [ fhir:v "141239" ] ; fhir:display [ fhir:v "Median cleft of the upper lip and maxilla" ] ] [ fhir:code [ fhir:v "141242" ] ; fhir:display [ fhir:v "Paramedian nasal cleft" ] ] [ fhir:code [ fhir:v "141258" ] ; fhir:display [ fhir:v "Tessier number 4 facial cleft" ] ] [ fhir:code [ fhir:v "141261" ] ; fhir:display [ fhir:v "Tessier number 5 facial cleft" ] ] [ fhir:code [ fhir:v "141265" ] ; fhir:display [ fhir:v "Tessier number 6 facial cleft" ] ] [ fhir:code [ fhir:v "141276" ] ; fhir:display [ fhir:v "Tessier number 7 facial cleft" ] ] [ fhir:code [ fhir:v "141288" ] ; fhir:display [ fhir:v "Midline cervical cleft" ] ] [ fhir:code [ fhir:v "141291" ] ; fhir:display [ fhir:v "Cleft lip and alveolus" ] ] [ fhir:code [ fhir:v "141327" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 12" ] ] [ fhir:code [ fhir:v "141330" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 13" ] ] [ fhir:code [ fhir:v "141333" ] ; fhir:display [ fhir:v "Biemond syndrome type 2" ] ] [ fhir:code [ fhir:v "1414" ] ; fhir:display [ fhir:v "Cholestasis-lymphedema syndrome" ] ] [ fhir:code [ fhir:v "1415" ] ; fhir:display [ fhir:v "Cholestasis-pigmentary retinopathy-cleft palate syndrome" ] ] [ fhir:code [ fhir:v "1416" ] ; fhir:display [ fhir:v "Familial calcium pyrophosphate deposition" ] ] [ fhir:code [ fhir:v "142" ] ; fhir:display [ fhir:v "Anaplastic thyroid carcinoma" ] ] [ fhir:code [ fhir:v "1422" ] ; fhir:display [ fhir:v "Chondrodysplasia-difference of sex development syndrome" ] ] [ fhir:code [ fhir:v "1423" ] ; fhir:display [ fhir:v "Lethal recessive chondrodysplasia" ] ] [ fhir:code [ fhir:v "1425" ] ; fhir:display [ fhir:v "Desbuquois syndrome" ] ] [ fhir:code [ fhir:v "1426" ] ; fhir:display [ fhir:v "Greenberg dysplasia" ] ] [ fhir:code [ fhir:v "1427" ] ; fhir:display [ fhir:v "Otospondylomegaepiphyseal dysplasia" ] ] [ fhir:code [ fhir:v "1429" ] ; fhir:display [ fhir:v "Benign hereditary chorea" ] ] [ fhir:code [ fhir:v "143" ] ; fhir:display [ fhir:v "Parathyroid carcinoma" ] ] [ fhir:code [ fhir:v "1433" ] ; fhir:display [ fhir:v "Choroidal atrophy-alopecia syndrome" ] ] [ fhir:code [ fhir:v "1435" ] ; fhir:display [ fhir:v "Xq21 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "1436" ] ; fhir:display [ fhir:v "X-linked skeletal dysplasia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "1437" ] ; fhir:display [ fhir:v "Ring chromosome 1 syndrome" ] ] [ fhir:code [ fhir:v "1438" ] ; fhir:display [ fhir:v "Ring chromosome 10 syndrome" ] ] [ fhir:code [ fhir:v "1439" ] ; fhir:display [ fhir:v "Ring chromosome 12 syndrome" ] ] [ fhir:code [ fhir:v "144" ] ; fhir:display [ fhir:v "Lynch syndrome" ] ] [ fhir:code [ fhir:v "1440" ] ; fhir:display [ fhir:v "Ring chromosome 14 syndrome" ] ] [ fhir:code [ fhir:v "1441" ] ; fhir:display [ fhir:v "Ring chromosome 17 syndrome" ] ] [ fhir:code [ fhir:v "1442" ] ; fhir:display [ fhir:v "Ring chromosome 18 syndrome" ] ] [ fhir:code [ fhir:v "1443" ] ; fhir:display [ fhir:v "Ring chromosome 19 syndrome" ] ] [ fhir:code [ fhir:v "1444" ] ; fhir:display [ fhir:v "Ring chromosome 20 syndrome" ] ] [ fhir:code [ fhir:v "1445" ] ; fhir:display [ fhir:v "Ring chromosome 21 syndrome" ] ] [ fhir:code [ fhir:v "1446" ] ; fhir:display [ fhir:v "Ring chromosome 22 syndrome" ] ] [ fhir:code [ fhir:v "1447" ] ; fhir:display [ fhir:v "Ring chromosome 4 syndrome" ] ] [ fhir:code [ fhir:v "1448" ] ; fhir:display [ fhir:v "Ring chromosome 6 syndrome" ] ] [ fhir:code [ fhir:v "1449" ] ; fhir:display [ fhir:v "Ring chromosome 7 syndrome" ] ] [ fhir:code [ fhir:v "145" ] ; fhir:display [ fhir:v "Hereditary breast and/or ovarian cancer syndrome" ] ] [ fhir:code [ fhir:v "1450" ] ; fhir:display [ fhir:v "Ring chromosome 8 syndrome" ] ] [ fhir:code [ fhir:v "1451" ] ; fhir:display [ fhir:v "CINCA syndrome" ] ] [ fhir:code [ fhir:v "1452" ] ; fhir:display [ fhir:v "Cleidocranial dysplasia" ] ] [ fhir:code [ fhir:v "1453" ] ; fhir:display [ fhir:v "Cleidorhizomelic syndrome" ] ] [ fhir:code [ fhir:v "1454" ] ; fhir:display [ fhir:v "Joubert syndrome with hepatic defect" ] ] [ fhir:code [ fhir:v "1455" ] ; fhir:display [ fhir:v "Autosomal dominant coarctation of aorta" ] ] [ fhir:code [ fhir:v "1456" ] ; fhir:display [ fhir:v "Atypical coarctation of aorta" ] ] [ fhir:code [ fhir:v "1457" ] ; fhir:display [ fhir:v "Aorta coarctation" ] ] [ fhir:code [ fhir:v "1458" ] ; fhir:display [ fhir:v "CODAS syndrome" ] ] [ fhir:code [ fhir:v "1459" ] ; fhir:display [ fhir:v "Celiac disease-epilepsy-cerebral calcification syndrome" ] ] [ fhir:code [ fhir:v "146" ] ; fhir:display [ fhir:v "Differentiated thyroid carcinoma" ] ] [ fhir:code [ fhir:v "1460" ] ; fhir:display [ fhir:v "Isolated complex III deficiency" ] ] [ fhir:code [ fhir:v "1461" ] ; fhir:display [ fhir:v "Criss-cross heart" ] ] [ fhir:code [ fhir:v "1464" ] ; fhir:display [ fhir:v "Univentricular heart" ] ] [ fhir:code [ fhir:v "1465" ] ; fhir:display [ fhir:v "Coffin-Siris syndrome" ] ] [ fhir:code [ fhir:v "1466" ] ; fhir:display [ fhir:v "COFS syndrome" ] ] [ fhir:code [ fhir:v "1467" ] ; fhir:display [ fhir:v "Cogan syndrome" ] ] [ fhir:code [ fhir:v "147" ] ; fhir:display [ fhir:v "Carbamoyl-phosphate synthetase 1 deficiency" ] ] [ fhir:code [ fhir:v "1471" ] ; fhir:display [ fhir:v "Coloboma of macula-brachydactyly type B syndrome" ] ] [ fhir:code [ fhir:v "1473" ] ; fhir:display [ fhir:v "Uveal coloboma-cleft lip and palate-intellectual disability" ] ] [ fhir:code [ fhir:v "1475" ] ; fhir:display [ fhir:v "Renal coloboma syndrome" ] ] [ fhir:code [ fhir:v "1478" ] ; fhir:display [ fhir:v "Interatrial communication" ] ] [ fhir:code [ fhir:v "1479" ] ; fhir:display [ fhir:v "Atrial septal defect-atrioventricular conduction defects syndrome" ] ] [ fhir:code [ fhir:v "1482" ] ; fhir:display [ fhir:v "Gonococcal conjunctivitis" ] ] [ fhir:code [ fhir:v "1484" ] ; fhir:display [ fhir:v "Contractures-ectodermal dysplasia-cleft lip/palate syndrome" ] ] [ fhir:code [ fhir:v "1485" ] ; fhir:display [ fhir:v "Arthrogryposis-hyperkeratosis syndrome, lethal form" ] ] [ fhir:code [ fhir:v "1486" ] ; fhir:display [ fhir:v "Lethal congenital contracture syndrome type 1" ] ] [ fhir:code [ fhir:v "1487" ] ; fhir:display [ fhir:v "Cooks syndrome" ] ] [ fhir:code [ fhir:v "1488" ] ; fhir:display [ fhir:v "Cooper-Jabs syndrome" ] ] [ fhir:code [ fhir:v "1489" ] ; fhir:display [ fhir:v "Whooping cough" ] ] [ fhir:code [ fhir:v "1490" ] ; fhir:display [ fhir:v "Corneal dystrophy-perceptive deafness syndrome" ] ] [ fhir:code [ fhir:v "1493" ] ; fhir:display [ fhir:v "Vici syndrome" ] ] [ fhir:code [ fhir:v "1495" ] ; fhir:display [ fhir:v "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome" ] ] [ fhir:code [ fhir:v "1496" ] ; fhir:display [ fhir:v "Corpus callosum agenesis-neuronopathy syndrome" ] ] [ fhir:code [ fhir:v "1497" ] ; fhir:display [ fhir:v "X-linked complicated corpus callosum dysgenesis" ] ] [ fhir:code [ fhir:v "15" ] ; fhir:display [ fhir:v "Achondroplasia" ] ] [ fhir:code [ fhir:v "150" ] ; fhir:display [ fhir:v "Nasopharyngeal carcinoma" ] ] [ fhir:code [ fhir:v "1501" ] ; fhir:display [ fhir:v "Adrenocortical carcinoma" ] ] [ fhir:code [ fhir:v "1506" ] ; fhir:display [ fhir:v "Thin ribs-tubular bones-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "1507" ] ; fhir:display [ fhir:v "Autosomal recessive Robinow syndrome" ] ] [ fhir:code [ fhir:v "1508" ] ; fhir:display [ fhir:v "Coxoauricular syndrome" ] ] [ fhir:code [ fhir:v "1509" ] ; fhir:display [ fhir:v "Coxopodopatellar syndrome" ] ] [ fhir:code [ fhir:v "1512" ] ; fhir:display [ fhir:v "Crane-Heise syndrome" ] ] [ fhir:code [ fhir:v "1513" ] ; fhir:display [ fhir:v "Craniodiaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "1514" ] ; fhir:display [ fhir:v "Craniodigital-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "1515" ] ; fhir:display [ fhir:v "Cranioectodermal dysplasia" ] ] [ fhir:code [ fhir:v "1516" ] ; fhir:display [ fhir:v "Non-syndromic bilambdoid and sagittal craniosynostosis" ] ] [ fhir:code [ fhir:v "1517" ] ; fhir:display [ fhir:v "Cantú syndrome" ] ] [ fhir:code [ fhir:v "1519" ] ; fhir:display [ fhir:v "SPECC1L-related hypertelorism syndrome" ] ] [ fhir:code [ fhir:v "1520" ] ; fhir:display [ fhir:v "Craniofrontonasal dysplasia" ] ] [ fhir:code [ fhir:v "1521" ] ; fhir:display [ fhir:v "Craniofrontonasal dysplasia-Poland anomaly syndrome" ] ] [ fhir:code [ fhir:v "1522" ] ; fhir:display [ fhir:v "Craniometaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "1524" ] ; fhir:display [ fhir:v "Craniomicromelic syndrome" ] ] [ fhir:code [ fhir:v "1525" ] ; fhir:display [ fhir:v "Cranio-osteoarthropathy" ] ] [ fhir:code [ fhir:v "1527" ] ; fhir:display [ fhir:v "Craniosynostosis, Philadelphia type" ] ] [ fhir:code [ fhir:v "1528" ] ; fhir:display [ fhir:v "Craniotelencephalic dysplasia" ] ] [ fhir:code [ fhir:v "1529" ] ; fhir:display [ fhir:v "Craniofacial-deafness-hand syndrome" ] ] [ fhir:code [ fhir:v "1532" ] ; fhir:display [ fhir:v "Gómez-López-Hernández syndrome" ] ] [ fhir:code [ fhir:v "1538" ] ; fhir:display [ fhir:v "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" ] ] [ fhir:code [ fhir:v "154" ] ; fhir:display [ fhir:v "Familial isolated dilated cardiomyopathy" ] ] [ fhir:code [ fhir:v "1540" ] ; fhir:display [ fhir:v "Jackson-Weiss syndrome" ] ] [ fhir:code [ fhir:v "1541" ] ; fhir:display [ fhir:v "Craniosynostosis, Boston type" ] ] [ fhir:code [ fhir:v "1544" ] ; fhir:display [ fhir:v "Benign focal seizures of adolescence" ] ] [ fhir:code [ fhir:v "1545" ] ; fhir:display [ fhir:v "Crisponi syndrome" ] ] [ fhir:code [ fhir:v "1546" ] ; fhir:display [ fhir:v "Cryptococcosis" ] ] [ fhir:code [ fhir:v "1547" ] ; fhir:display [ fhir:v "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome" ] ] [ fhir:code [ fhir:v "1548" ] ; fhir:display [ fhir:v "Cryptorchidism-arachnodactyly-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "1551" ] ; fhir:display [ fhir:v "Familial benign copper deficiency" ] ] [ fhir:code [ fhir:v "1552" ] ; fhir:display [ fhir:v "Currarino syndrome" ] ] [ fhir:code [ fhir:v "1553" ] ; fhir:display [ fhir:v "Curry-Jones syndrome" ] ] [ fhir:code [ fhir:v "1555" ] ; fhir:display [ fhir:v "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" ] ] [ fhir:code [ fhir:v "1556" ] ; fhir:display [ fhir:v "Cutis marmorata telangiectatica congenita" ] ] [ fhir:code [ fhir:v "155838" ] ; fhir:display [ fhir:v "Pinnae fistula or cyst" ] ] [ fhir:code [ fhir:v "155878" ] ; fhir:display [ fhir:v "Submucosal cleft palate" ] ] [ fhir:code [ fhir:v "155884" ] ; fhir:display [ fhir:v "Coloboma of superior eyelid" ] ] [ fhir:code [ fhir:v "155889" ] ; fhir:display [ fhir:v "Coloboma of inferior eyelid" ] ] [ fhir:code [ fhir:v "156" ] ; fhir:display [ fhir:v "Carnitine palmitoyl transferase 1A deficiency" ] ] [ fhir:code [ fhir:v "1560" ] ; fhir:display [ fhir:v "Cysticercosis" ] ] [ fhir:code [ fhir:v "1561" ] ; fhir:display [ fhir:v "Fatal infantile cytochrome C oxidase deficiency" ] ] [ fhir:code [ fhir:v "1562" ] ; fhir:display [ fhir:v "Dacryocystitis-osteopoikilosis syndrome" ] ] [ fhir:code [ fhir:v "1563" ] ; fhir:display [ fhir:v "Dahlberg-Borer-Newcomer syndrome" ] ] [ fhir:code [ fhir:v "1566" ] ; fhir:display [ fhir:v "Dandy-Walker malformation-postaxial polydactyly syndrome" ] ] [ fhir:code [ fhir:v "156728" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, matrilin-3 type" ] ] [ fhir:code [ fhir:v "156731" ] ; fhir:display [ fhir:v "Dyssegmental dysplasia, Rolland-Desbuquois type" ] ] [ fhir:code [ fhir:v "1568" ] ; fhir:display [ fhir:v "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" ] ] [ fhir:code [ fhir:v "157" ] ; fhir:display [ fhir:v "Carnitine palmitoyltransferase II deficiency" ] ] [ fhir:code [ fhir:v "1570" ] ; fhir:display [ fhir:v "Symbrachydactyly of hands and feet" ] ] [ fhir:code [ fhir:v "1571" ] ; fhir:display [ fhir:v "Knobloch syndrome" ] ] [ fhir:code [ fhir:v "1572" ] ; fhir:display [ fhir:v "Common variable immunodeficiency" ] ] [ fhir:code [ fhir:v "157215" ] ; fhir:display [ fhir:v "Hereditary hypophosphatemic rickets with hypercalciuria" ] ] [ fhir:code [ fhir:v "1573" ] ; fhir:display [ fhir:v "Hypotrichosis with juvenile macular degeneration" ] ] [ fhir:code [ fhir:v "1574" ] ; fhir:display [ fhir:v "Retinal degeneration-nanophthalmos-glaucoma syndrome" ] ] [ fhir:code [ fhir:v "157713" ] ; fhir:display [ fhir:v "Congenital or early infantile CACH syndrome" ] ] [ fhir:code [ fhir:v "157716" ] ; fhir:display [ fhir:v "Late infantile CACH syndrome" ] ] [ fhir:code [ fhir:v "157719" ] ; fhir:display [ fhir:v "Juvenile or adult CACH syndrome" ] ] [ fhir:code [ fhir:v "157769" ] ; fhir:display [ fhir:v "Situs ambiguus" ] ] [ fhir:code [ fhir:v "157791" ] ; fhir:display [ fhir:v "Epithelioid hemangioendothelioma" ] ] [ fhir:code [ fhir:v "157794" ] ; fhir:display [ fhir:v "Hereditary mixed polyposis syndrome" ] ] [ fhir:code [ fhir:v "157798" ] ; fhir:display [ fhir:v "Serrated polyposis syndrome" ] ] [ fhir:code [ fhir:v "1578" ] ; fhir:display [ fhir:v "Pterin-4 alpha-carbinolamine dehydratase deficiency" ] ] [ fhir:code [ fhir:v "157801" ] ; fhir:display [ fhir:v "Mesoaxial synostotic syndactyly with phalangeal reduction" ] ] [ fhir:code [ fhir:v "157808" ] ; fhir:display [ fhir:v "Congenital pseudoarthrosis of the limbs" ] ] [ fhir:code [ fhir:v "157820" ] ; fhir:display [ fhir:v "Cold-induced sweating syndrome" ] ] [ fhir:code [ fhir:v "157823" ] ; fhir:display [ fhir:v "Klüver-Bucy syndrome" ] ] [ fhir:code [ fhir:v "157826" ] ; fhir:display [ fhir:v "Congenital epulis" ] ] [ fhir:code [ fhir:v "157832" ] ; fhir:display [ fhir:v "Craniorhiny" ] ] [ fhir:code [ fhir:v "157835" ] ; fhir:display [ fhir:v "Paroxysmal hemicrania" ] ] [ fhir:code [ fhir:v "157846" ] ; fhir:display [ fhir:v "Neuroferritinopathy" ] ] [ fhir:code [ fhir:v "157850" ] ; fhir:display [ fhir:v "Pantothenate kinase-associated neurodegeneration" ] ] [ fhir:code [ fhir:v "157941" ] ; fhir:display [ fhir:v "Huntington disease-like 1" ] ] [ fhir:code [ fhir:v "157946" ] ; fhir:display [ fhir:v "Huntington disease-like 3" ] ] [ fhir:code [ fhir:v "157949" ] ; fhir:display [ fhir:v "Combined immunodeficiency with granulomatosis" ] ] [ fhir:code [ fhir:v "157954" ] ; fhir:display [ fhir:v "ANE syndrome" ] ] [ fhir:code [ fhir:v "157962" ] ; fhir:display [ fhir:v "Oculoauricular syndrome, Schorderet type" ] ] [ fhir:code [ fhir:v "157965" ] ; fhir:display [ fhir:v "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "157973" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy due to LMNA mutation" ] ] [ fhir:code [ fhir:v "157991" ] ; fhir:display [ fhir:v "Generalized eruptive histiocytosis" ] ] [ fhir:code [ fhir:v "157997" ] ; fhir:display [ fhir:v "Benign cephalic histiocytosis" ] ] [ fhir:code [ fhir:v "158" ] ; fhir:display [ fhir:v "Systemic primary carnitine deficiency" ] ] [ fhir:code [ fhir:v "1580" ] ; fhir:display [ fhir:v "Distal deletion 10p" ] ] [ fhir:code [ fhir:v "158000" ] ; fhir:display [ fhir:v "Juvenile xanthogranuloma" ] ] [ fhir:code [ fhir:v "158003" ] ; fhir:display [ fhir:v "Xanthoma disseminatum" ] ] [ fhir:code [ fhir:v "158008" ] ; fhir:display [ fhir:v "Papular xanthoma" ] ] [ fhir:code [ fhir:v "158011" ] ; fhir:display [ fhir:v "Necrobiotic xanthogranuloma" ] ] [ fhir:code [ fhir:v "158014" ] ; fhir:display [ fhir:v "Rosaï-Dorfman disease" ] ] [ fhir:code [ fhir:v "158019" ] ; fhir:display [ fhir:v "Indeterminate cell histiocytosis" ] ] [ fhir:code [ fhir:v "158022" ] ; fhir:display [ fhir:v "Progressive nodular histiocytosis" ] ] [ fhir:code [ fhir:v "158025" ] ; fhir:display [ fhir:v "Hereditary progressive mucinous histiocytosis" ] ] [ fhir:code [ fhir:v "158029" ] ; fhir:display [ fhir:v "Sea-blue histiocytosis" ] ] [ fhir:code [ fhir:v "158048" ] ; fhir:display [ fhir:v "Hemophagocytic syndrome associated with an infection" ] ] [ fhir:code [ fhir:v "158057" ] ; fhir:display [ fhir:v "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease" ] ] [ fhir:code [ fhir:v "158061" ] ; fhir:display [ fhir:v "Macrophage activation syndrome" ] ] [ fhir:code [ fhir:v "1581" ] ; fhir:display [ fhir:v "Non-distal deletion 10q" ] ] [ fhir:code [ fhir:v "158668" ] ; fhir:display [ fhir:v "Ectodermal dysplasia-skin fragility syndrome" ] ] [ fhir:code [ fhir:v "158673" ] ; fhir:display [ fhir:v "Localized dystrophic epidermolysis bullosa, acral form" ] ] [ fhir:code [ fhir:v "158676" ] ; fhir:display [ fhir:v "Localized dystrophic epidermolysis bullosa, nails only" ] ] [ fhir:code [ fhir:v "158681" ] ; fhir:display [ fhir:v "Epidermolysis bullosa simplex with circinate migratory erythema" ] ] [ fhir:code [ fhir:v "158684" ] ; fhir:display [ fhir:v "Epidermolysis bullosa simplex with pyloric atresia" ] ] [ fhir:code [ fhir:v "158687" ] ; fhir:display [ fhir:v "Lethal acantholytic erosive disorder" ] ] [ fhir:code [ fhir:v "1587" ] ; fhir:display [ fhir:v "Monosomy 13q14" ] ] [ fhir:code [ fhir:v "158766" ] ; fhir:display [ fhir:v "Typical urticaria pigmentosa" ] ] [ fhir:code [ fhir:v "158769" ] ; fhir:display [ fhir:v "Plaque-form urticaria pigmentosa" ] ] [ fhir:code [ fhir:v "158772" ] ; fhir:display [ fhir:v "Nodular urticaria pigmentosa" ] ] [ fhir:code [ fhir:v "158775" ] ; fhir:display [ fhir:v "Smoldering systemic mastocytosis" ] ] [ fhir:code [ fhir:v "158778" ] ; fhir:display [ fhir:v "Isolated bone marrow mastocytosis" ] ] [ fhir:code [ fhir:v "159" ] ; fhir:display [ fhir:v "Carnitine-acylcarnitine translocase deficiency" ] ] [ fhir:code [ fhir:v "1590" ] ; fhir:display [ fhir:v "Distal deletion 13q" ] ] [ fhir:code [ fhir:v "1596" ] ; fhir:display [ fhir:v "Distal deletion 15q" ] ] [ fhir:code [ fhir:v "1597" ] ; fhir:display [ fhir:v "Distal deletion 17q" ] ] [ fhir:code [ fhir:v "1598" ] ; fhir:display [ fhir:v "Monosomy 18p" ] ] [ fhir:code [ fhir:v "16" ] ; fhir:display [ fhir:v "Blue cone monochromatism" ] ] [ fhir:code [ fhir:v "160" ] ; fhir:display [ fhir:v "Castleman disease" ] ] [ fhir:code [ fhir:v "1600" ] ; fhir:display [ fhir:v "Monosomy 18q" ] ] [ fhir:code [ fhir:v "160148" ] ; fhir:display [ fhir:v "Cap polyposis" ] ] [ fhir:code [ fhir:v "1606" ] ; fhir:display [ fhir:v "1p36 deletion syndrome" ] ] [ fhir:code [ fhir:v "1617" ] ; fhir:display [ fhir:v "2q24 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "162" ] ; fhir:display [ fhir:v "Cataract-glaucoma syndrome" ] ] [ fhir:code [ fhir:v "1620" ] ; fhir:display [ fhir:v "Distal deletion 3p" ] ] [ fhir:code [ fhir:v "1621" ] ; fhir:display [ fhir:v "3q13 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "162516" ] ; fhir:display [ fhir:v "Isolated congenital nasal pyriform aperture stenosis" ] ] [ fhir:code [ fhir:v "162526" ] ; fhir:display [ fhir:v "Isolated congenital auditory ossicle malformation" ] ] [ fhir:code [ fhir:v "1627" ] ; fhir:display [ fhir:v "Deletion 5q35" ] ] [ fhir:code [ fhir:v "163" ] ; fhir:display [ fhir:v "Hereditary hyperferritinemia-cataract syndrome" ] ] [ fhir:code [ fhir:v "163525" ] ; fhir:display [ fhir:v "Subacute cutaneous lupus erythematosus" ] ] [ fhir:code [ fhir:v "163596" ] ; fhir:display [ fhir:v "Hb Bart's hydrops fetalis" ] ] [ fhir:code [ fhir:v "1636" ] ; fhir:display [ fhir:v "Distal monosomy 7q36" ] ] [ fhir:code [ fhir:v "163634" ] ; fhir:display [ fhir:v "Maffucci syndrome" ] ] [ fhir:code [ fhir:v "163649" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "163654" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome" ] ] [ fhir:code [ fhir:v "163662" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia, Reardon type" ] ] [ fhir:code [ fhir:v "163665" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia tarda, Kohn type" ] ] [ fhir:code [ fhir:v "163668" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia, MacDermot type" ] ] [ fhir:code [ fhir:v "163681" ] ; fhir:display [ fhir:v "CNTNAP2-related developmental and epileptic encephalopathy" ] ] [ fhir:code [ fhir:v "163684" ] ; fhir:display [ fhir:v "Leukoencephalopathy-dystonia-motor neuropathy syndrome" ] ] [ fhir:code [ fhir:v "163690" ] ; fhir:display [ fhir:v "Hypotonia-cystinuria syndrome" ] ] [ fhir:code [ fhir:v "163693" ] ; fhir:display [ fhir:v "2p21 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "163696" ] ; fhir:display [ fhir:v "Action myoclonus-renal failure syndrome" ] ] [ fhir:code [ fhir:v "163699" ] ; fhir:display [ fhir:v "Alveolar soft tissue sarcoma" ] ] [ fhir:code [ fhir:v "163703" ] ; fhir:display [ fhir:v "Febrile infection-related epilepsy syndrome" ] ] [ fhir:code [ fhir:v "163708" ] ; fhir:display [ fhir:v "Cryptogenic late-onset epileptic spasms" ] ] [ fhir:code [ fhir:v "163717" ] ; fhir:display [ fhir:v "Benign familial mesial temporal lobe epilepsy" ] ] [ fhir:code [ fhir:v "163721" ] ; fhir:display [ fhir:v "Rolandic epilepsy-speech dyspraxia syndrome" ] ] [ fhir:code [ fhir:v "163727" ] ; fhir:display [ fhir:v "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome" ] ] [ fhir:code [ fhir:v "163746" ] ; fhir:display [ fhir:v "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" ] ] [ fhir:code [ fhir:v "163921" ] ; fhir:display [ fhir:v "Posttransplant acute limbic encephalitis" ] ] [ fhir:code [ fhir:v "163927" ] ; fhir:display [ fhir:v "Pustulosis palmaris et plantaris" ] ] [ fhir:code [ fhir:v "163931" ] ; fhir:display [ fhir:v "Acrodermatitis continua of Hallopeau" ] ] [ fhir:code [ fhir:v "163934" ] ; fhir:display [ fhir:v "Atopic keratoconjunctivitis" ] ] [ fhir:code [ fhir:v "163937" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Najm type" ] ] [ fhir:code [ fhir:v "163956" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Nascimento type" ] ] [ fhir:code [ fhir:v "163961" ] ; fhir:display [ fhir:v "X-linked cerebral-cerebellar-coloboma syndrome" ] ] [ fhir:code [ fhir:v "163966" ] ; fhir:display [ fhir:v "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" ] ] [ fhir:code [ fhir:v "163971" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Cilliers type" ] ] [ fhir:code [ fhir:v "163976" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Van Esch type" ] ] [ fhir:code [ fhir:v "163979" ] ; fhir:display [ fhir:v "X-linked intellectual disability-craniofacioskeletal syndrome" ] ] [ fhir:code [ fhir:v "163985" ] ; fhir:display [ fhir:v "Hyperekplexia-epilepsy syndrome" ] ] [ fhir:code [ fhir:v "1642" ] ; fhir:display [ fhir:v "Distal deletion 9p" ] ] [ fhir:code [ fhir:v "1643" ] ; fhir:display [ fhir:v "Xp22.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "1646" ] ; fhir:display [ fhir:v "Partial chromosome Y deletion" ] ] [ fhir:code [ fhir:v "1647" ] ; fhir:display [ fhir:v "Oculocerebrocutaneous syndrome" ] ] [ fhir:code [ fhir:v "164726" ] ; fhir:display [ fhir:v "Acute myeloid leukemia and myelodysplastic syndromes related to radiation" ] ] [ fhir:code [ fhir:v "164736" ] ; fhir:display [ fhir:v "Familial advanced sleep-phase syndrome" ] ] [ fhir:code [ fhir:v "1652" ] ; fhir:display [ fhir:v "Dent disease" ] ] [ fhir:code [ fhir:v "1653" ] ; fhir:display [ fhir:v "Dentin dysplasia" ] ] [ fhir:code [ fhir:v "1655" ] ; fhir:display [ fhir:v "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" ] ] [ fhir:code [ fhir:v "1656" ] ; fhir:display [ fhir:v "Dermatitis herpetiformis" ] ] [ fhir:code [ fhir:v "1657" ] ; fhir:display [ fhir:v "Dermatoosteolysis, Kirghizian type" ] ] [ fhir:code [ fhir:v "1658" ] ; fhir:display [ fhir:v "Absence of fingerprints-congenital milia syndrome" ] ] [ fhir:code [ fhir:v "165805" ] ; fhir:display [ fhir:v "Familial mesial temporal lobe epilepsy with febrile seizures" ] ] [ fhir:code [ fhir:v "1659" ] ; fhir:display [ fhir:v "Dermatoleukodystrophy" ] ] [ fhir:code [ fhir:v "165955" ] ; fhir:display [ fhir:v "Wound myiasis" ] ] [ fhir:code [ fhir:v "165958" ] ; fhir:display [ fhir:v "Cavitary myiasis" ] ] [ fhir:code [ fhir:v "165991" ] ; fhir:display [ fhir:v "Exercise-induced hyperinsulinism" ] ] [ fhir:code [ fhir:v "1660" ] ; fhir:display [ fhir:v "Dermoodontodysplasia" ] ] [ fhir:code [ fhir:v "166002" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia due to collagen 9 anomaly" ] ] [ fhir:code [ fhir:v "166011" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia, Beighton type" ] ] [ fhir:code [ fhir:v "166016" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia, Lowry type" ] ] [ fhir:code [ fhir:v "166024" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia, Al-Gazali type" ] ] [ fhir:code [ fhir:v "166029" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia" ] ] [ fhir:code [ fhir:v "166032" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia, with miniepiphyses" ] ] [ fhir:code [ fhir:v "166035" ] ; fhir:display [ fhir:v "Brachydactyly-short stature-retinitis pigmentosa syndrome" ] ] [ fhir:code [ fhir:v "166038" ] ; fhir:display [ fhir:v "Metaphyseal chondrodysplasia, Kaitila type" ] ] [ fhir:code [ fhir:v "166063" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 4" ] ] [ fhir:code [ fhir:v "166073" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 6" ] ] [ fhir:code [ fhir:v "166078" ] ; fhir:display [ fhir:v "Von Willebrand disease type 1" ] ] [ fhir:code [ fhir:v "166081" ] ; fhir:display [ fhir:v "Von Willebrand disease type 2" ] ] [ fhir:code [ fhir:v "166084" ] ; fhir:display [ fhir:v "Von Willebrand disease type 2A" ] ] [ fhir:code [ fhir:v "166087" ] ; fhir:display [ fhir:v "Von Willebrand disease type 2B" ] ] [ fhir:code [ fhir:v "166090" ] ; fhir:display [ fhir:v "Von Willebrand disease type 2M" ] ] [ fhir:code [ fhir:v "166093" ] ; fhir:display [ fhir:v "Von Willebrand disease type 2N" ] ] [ fhir:code [ fhir:v "166096" ] ; fhir:display [ fhir:v "Von Willebrand disease type 3" ] ] [ fhir:code [ fhir:v "1661" ] ; fhir:display [ fhir:v "X-linked corneal dermoid" ] ] [ fhir:code [ fhir:v "166100" ] ; fhir:display [ fhir:v "Autosomal dominant otospondylomegaepiphyseal dysplasia" ] ] [ fhir:code [ fhir:v "166105" ] ; fhir:display [ fhir:v "FASTKD2-related infantile mitochondrial encephalomyopathy" ] ] [ fhir:code [ fhir:v "166108" ] ; fhir:display [ fhir:v "Intellectual disability, Birk-Barel type" ] ] [ fhir:code [ fhir:v "166113" ] ; fhir:display [ fhir:v "Bazex syndrome" ] ] [ fhir:code [ fhir:v "166119" ] ; fhir:display [ fhir:v "Isolated osteopoikilosis" ] ] [ fhir:code [ fhir:v "1662" ] ; fhir:display [ fhir:v "Restrictive dermopathy" ] ] [ fhir:code [ fhir:v "166260" ] ; fhir:display [ fhir:v "Dentinogenesis imperfecta type 2" ] ] [ fhir:code [ fhir:v "166265" ] ; fhir:display [ fhir:v "Dentinogenesis imperfecta type 3" ] ] [ fhir:code [ fhir:v "166272" ] ; fhir:display [ fhir:v "Odontochondrodysplasia" ] ] [ fhir:code [ fhir:v "166277" ] ; fhir:display [ fhir:v "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia" ] ] [ fhir:code [ fhir:v "166282" ] ; fhir:display [ fhir:v "Familial sick sinus syndrome" ] ] [ fhir:code [ fhir:v "166286" ] ; fhir:display [ fhir:v "Porokeratotic eccrine ostial and dermal duct nevus" ] ] [ fhir:code [ fhir:v "166291" ] ; fhir:display [ fhir:v "Dirofilariasis" ] ] [ fhir:code [ fhir:v "166299" ] ; fhir:display [ fhir:v "Benign partial epilepsy of infancy with complex partial seizures" ] ] [ fhir:code [ fhir:v "166302" ] ; fhir:display [ fhir:v "Benign partial epilepsy with secondarily generalized seizures in infancy" ] ] [ fhir:code [ fhir:v "166305" ] ; fhir:display [ fhir:v "Benign infantile seizures associated with mild gastroenteritis" ] ] [ fhir:code [ fhir:v "166308" ] ; fhir:display [ fhir:v "Benign infantile focal epilepsy with midline spikes and waves during sleep" ] ] [ fhir:code [ fhir:v "166409" ] ; fhir:display [ fhir:v "Photosensitive epilepsy" ] ] [ fhir:code [ fhir:v "166412" ] ; fhir:display [ fhir:v "Hot water reflex epilepsy" ] ] [ fhir:code [ fhir:v "166415" ] ; fhir:display [ fhir:v "Audiogenic seizures" ] ] [ fhir:code [ fhir:v "166418" ] ; fhir:display [ fhir:v "Eating reflex epilepsy" ] ] [ fhir:code [ fhir:v "166421" ] ; fhir:display [ fhir:v "Orgasm-induced seizures" ] ] [ fhir:code [ fhir:v "166424" ] ; fhir:display [ fhir:v "Thinking seizures" ] ] [ fhir:code [ fhir:v "166427" ] ; fhir:display [ fhir:v "Startle epilepsy" ] ] [ fhir:code [ fhir:v "166430" ] ; fhir:display [ fhir:v "Micturation-induced seizures" ] ] [ fhir:code [ fhir:v "166433" ] ; fhir:display [ fhir:v "Reading seizures" ] ] [ fhir:code [ fhir:v "1665" ] ; fhir:display [ fhir:v "Sporadic fetal brain disruption sequence" ] ] [ fhir:code [ fhir:v "1666" ] ; fhir:display [ fhir:v "Dextrocardia" ] ] [ fhir:code [ fhir:v "1667" ] ; fhir:display [ fhir:v "Wolcott-Rallison syndrome" ] ] [ fhir:code [ fhir:v "167" ] ; fhir:display [ fhir:v "Chédiak-Higashi syndrome" ] ] [ fhir:code [ fhir:v "1670" ] ; fhir:display [ fhir:v "Chronic diarrhea with villous atrophy" ] ] [ fhir:code [ fhir:v "1671" ] ; fhir:display [ fhir:v "Split cord malformation type I" ] ] [ fhir:code [ fhir:v "1672" ] ; fhir:display [ fhir:v "Diencephalic syndrome" ] ] [ fhir:code [ fhir:v "1675" ] ; fhir:display [ fhir:v "Dihydropyrimidine dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "1676" ] ; fhir:display [ fhir:v "Idiopathic pulmonary artery dilatation" ] ] [ fhir:code [ fhir:v "167635" ] ; fhir:display [ fhir:v "Scleromyxedema" ] ] [ fhir:code [ fhir:v "1677" ] ; fhir:display [ fhir:v "Familial idiopathic dilatation of the right atrium" ] ] [ fhir:code [ fhir:v "1679" ] ; fhir:display [ fhir:v "Diphtheria" ] ] [ fhir:code [ fhir:v "168" ] ; fhir:display [ fhir:v "Loose anagen syndrome" ] ] [ fhir:code [ fhir:v "1681" ] ; fhir:display [ fhir:v "Diprosopus" ] ] [ fhir:code [ fhir:v "1682" ] ; fhir:display [ fhir:v "Arterial dissection-lentiginosis syndrome" ] ] [ fhir:code [ fhir:v "168443" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" ] ] [ fhir:code [ fhir:v "168451" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome" ] ] [ fhir:code [ fhir:v "168454" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, Geneviève type" ] ] [ fhir:code [ fhir:v "168486" ] ; fhir:display [ fhir:v "Congenital neuronal ceroid lipofuscinosis" ] ] [ fhir:code [ fhir:v "168491" ] ; fhir:display [ fhir:v "Late infantile neuronal ceroid lipofuscinosis" ] ] [ fhir:code [ fhir:v "1685" ] ; fhir:display [ fhir:v "Distomatosis" ] ] [ fhir:code [ fhir:v "168544" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia, Golden type" ] ] [ fhir:code [ fhir:v "168549" ] ; fhir:display [ fhir:v "Axial spondylometaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "168552" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "168555" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia, A4 type" ] ] [ fhir:code [ fhir:v "168558" ] ; fhir:display [ fhir:v "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency" ] ] [ fhir:code [ fhir:v "168563" ] ; fhir:display [ fhir:v "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome" ] ] [ fhir:code [ fhir:v "168566" ] ; fhir:display [ fhir:v "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" ] ] [ fhir:code [ fhir:v "168569" ] ; fhir:display [ fhir:v "H syndrome" ] ] [ fhir:code [ fhir:v "168572" ] ; fhir:display [ fhir:v "Native American myopathy" ] ] [ fhir:code [ fhir:v "168577" ] ; fhir:display [ fhir:v "Hereditary cryohydrocytosis with reduced stomatin" ] ] [ fhir:code [ fhir:v "168583" ] ; fhir:display [ fhir:v "Hereditary North American Indian childhood cirrhosis" ] ] [ fhir:code [ fhir:v "168588" ] ; fhir:display [ fhir:v "Hyperandrogenism due to cortisone reductase deficiency" ] ] [ fhir:code [ fhir:v "168593" ] ; fhir:display [ fhir:v "Sudden infant death-dysgenesis of the testes syndrome" ] ] [ fhir:code [ fhir:v "168598" ] ; fhir:display [ fhir:v "Methionine adenosyltransferase I/III deficiency" ] ] [ fhir:code [ fhir:v "1686" ] ; fhir:display [ fhir:v "Cardiac diverticulum" ] ] [ fhir:code [ fhir:v "168601" ] ; fhir:display [ fhir:v "Congenital enteropathy due to enteropeptidase deficiency" ] ] [ fhir:code [ fhir:v "168606" ] ; fhir:display [ fhir:v "Seborrhea-like dermatitis with psoriasiform elements" ] ] [ fhir:code [ fhir:v "168612" ] ; fhir:display [ fhir:v "Congenital deficiency in alpha-fetoprotein" ] ] [ fhir:code [ fhir:v "168615" ] ; fhir:display [ fhir:v "Hereditary persistence of alpha-fetoprotein" ] ] [ fhir:code [ fhir:v "168621" ] ; fhir:display [ fhir:v "Dysplasia of head of femur, Meyer type" ] ] [ fhir:code [ fhir:v "168624" ] ; fhir:display [ fhir:v "Familial scaphocephaly syndrome, McGillivray type" ] ] [ fhir:code [ fhir:v "168629" ] ; fhir:display [ fhir:v "Autosomal thrombocytopenia with normal platelets" ] ] [ fhir:code [ fhir:v "168632" ] ; fhir:display [ fhir:v "Generalized basaloid follicular hamartoma syndrome" ] ] [ fhir:code [ fhir:v "168782" ] ; fhir:display [ fhir:v "Childhood disintegrative disorder" ] ] [ fhir:code [ fhir:v "168796" ] ; fhir:display [ fhir:v "Heart-hand syndrome, Slovenian type" ] ] [ fhir:code [ fhir:v "168811" ] ; fhir:display [ fhir:v "Malignant peritoneal mesothelioma" ] ] [ fhir:code [ fhir:v "168816" ] ; fhir:display [ fhir:v "Peritoneal cystic mesothelioma" ] ] [ fhir:code [ fhir:v "168829" ] ; fhir:display [ fhir:v "Primary peritoneal carcinoma" ] ] [ fhir:code [ fhir:v "168940" ] ; fhir:display [ fhir:v "Chronic eosinophilic leukemia" ] ] [ fhir:code [ fhir:v "168947" ] ; fhir:display [ fhir:v "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement" ] ] [ fhir:code [ fhir:v "168950" ] ; fhir:display [ fhir:v "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement" ] ] [ fhir:code [ fhir:v "168953" ] ; fhir:display [ fhir:v "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" ] ] [ fhir:code [ fhir:v "168960" ] ; fhir:display [ fhir:v "Refractory anemia with excess blasts in transformation" ] ] [ fhir:code [ fhir:v "168966" ] ; fhir:display [ fhir:v "Composite lymphoma" ] ] [ fhir:code [ fhir:v "168984" ] ; fhir:display [ fhir:v "CLAPO syndrome" ] ] [ fhir:code [ fhir:v "168999" ] ; fhir:display [ fhir:v "Malignant melanoma of the mucosa" ] ] [ fhir:code [ fhir:v "169" ] ; fhir:display [ fhir:v "Ringed hair disease" ] ] [ fhir:code [ fhir:v "169079" ] ; fhir:display [ fhir:v "Cernunnos-XLF deficiency" ] ] [ fhir:code [ fhir:v "169082" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to CD3gamma deficiency" ] ] [ fhir:code [ fhir:v "169085" ] ; fhir:display [ fhir:v "Susceptibility to respiratory infections associated with CD8alpha chain mutation" ] ] [ fhir:code [ fhir:v "169090" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to CRAC channel dysfunction" ] ] [ fhir:code [ fhir:v "169095" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to FOXN1 deficiency" ] ] [ fhir:code [ fhir:v "169100" ] ; fhir:display [ fhir:v "Immunodeficiency due to CD25 deficiency" ] ] [ fhir:code [ fhir:v "169105" ] ; fhir:display [ fhir:v "Good syndrome" ] ] [ fhir:code [ fhir:v "169110" ] ; fhir:display [ fhir:v "Immunoglobulin heavy chain deficiency" ] ] [ fhir:code [ fhir:v "169139" ] ; fhir:display [ fhir:v "Transient hypogammaglobulinemia of infancy" ] ] [ fhir:code [ fhir:v "169142" ] ; fhir:display [ fhir:v "Recurrent infection due to specific granule deficiency" ] ] [ fhir:code [ fhir:v "169147" ] ; fhir:display [ fhir:v "Immunodeficiency due to a classical component pathway complement deficiency" ] ] [ fhir:code [ fhir:v "169150" ] ; fhir:display [ fhir:v "Immunodeficiency due to a late component of complement deficiency" ] ] [ fhir:code [ fhir:v "169154" ] ; fhir:display [ fhir:v "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" ] ] [ fhir:code [ fhir:v "169157" ] ; fhir:display [ fhir:v "T-B+ severe combined immunodeficiency due to CD45 deficiency" ] ] [ fhir:code [ fhir:v "169160" ] ; fhir:display [ fhir:v "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta" ] ] [ fhir:code [ fhir:v "169186" ] ; fhir:display [ fhir:v "Autosomal recessive centronuclear myopathy" ] ] [ fhir:code [ fhir:v "169189" ] ; fhir:display [ fhir:v "Autosomal dominant centronuclear myopathy" ] ] [ fhir:code [ fhir:v "1692" ] ; fhir:display [ fhir:v "Mosaic trisomy 1" ] ] [ fhir:code [ fhir:v "169464" ] ; fhir:display [ fhir:v "Primary CD59 deficiency" ] ] [ fhir:code [ fhir:v "169467" ] ; fhir:display [ fhir:v "Recurrent Neisseria infections due to factor D deficiency" ] ] [ fhir:code [ fhir:v "1695" ] ; fhir:display [ fhir:v "Non-distal duplication 10q" ] ] [ fhir:code [ fhir:v "169793" ] ; fhir:display [ fhir:v "Severe hemophilia B" ] ] [ fhir:code [ fhir:v "169796" ] ; fhir:display [ fhir:v "Moderate hemophilia B" ] ] [ fhir:code [ fhir:v "169799" ] ; fhir:display [ fhir:v "Mild hemophilia B" ] ] [ fhir:code [ fhir:v "1698" ] ; fhir:display [ fhir:v "Mosaic trisomy 12" ] ] [ fhir:code [ fhir:v "169802" ] ; fhir:display [ fhir:v "Severe hemophilia A" ] ] [ fhir:code [ fhir:v "169805" ] ; fhir:display [ fhir:v "Moderate hemophilia A" ] ] [ fhir:code [ fhir:v "169808" ] ; fhir:display [ fhir:v "Mild hemophilia A" ] ] [ fhir:code [ fhir:v "1699" ] ; fhir:display [ fhir:v "Trisomy 12p" ] ] [ fhir:code [ fhir:v "17" ] ; fhir:display [ fhir:v "Fatal infantile lactic acidosis with methylmalonic aciduria" ] ] [ fhir:code [ fhir:v "170" ] ; fhir:display [ fhir:v "Woolly hair" ] ] [ fhir:code [ fhir:v "1702" ] ; fhir:display [ fhir:v "Non-distal duplication 13q" ] ] [ fhir:code [ fhir:v "1703" ] ; fhir:display [ fhir:v "Mosaic trisomy 14" ] ] [ fhir:code [ fhir:v "1705" ] ; fhir:display [ fhir:v "Distal duplication 14q" ] ] [ fhir:code [ fhir:v "1706" ] ; fhir:display [ fhir:v "Mosaic trisomy 15" ] ] [ fhir:code [ fhir:v "1707" ] ; fhir:display [ fhir:v "Distal duplication 15q" ] ] [ fhir:code [ fhir:v "1708" ] ; fhir:display [ fhir:v "Mosaic trisomy 16" ] ] [ fhir:code [ fhir:v "171" ] ; fhir:display [ fhir:v "Primary sclerosing cholangitis" ] ] [ fhir:code [ fhir:v "1711" ] ; fhir:display [ fhir:v "Mosaic trisomy 17" ] ] [ fhir:code [ fhir:v "171220" ] ; fhir:display [ fhir:v "Rectal duplication" ] ] [ fhir:code [ fhir:v "1713" ] ; fhir:display [ fhir:v "17p11.2 microduplication syndrome" ] ] [ fhir:code [ fhir:v "171430" ] ; fhir:display [ fhir:v "Severe congenital nemaline myopathy" ] ] [ fhir:code [ fhir:v "171433" ] ; fhir:display [ fhir:v "Intermediate nemaline myopathy" ] ] [ fhir:code [ fhir:v "171436" ] ; fhir:display [ fhir:v "Typical nemaline myopathy" ] ] [ fhir:code [ fhir:v "171439" ] ; fhir:display [ fhir:v "Childhood-onset nemaline myopathy" ] ] [ fhir:code [ fhir:v "171442" ] ; fhir:display [ fhir:v "Adult-onset nemaline myopathy" ] ] [ fhir:code [ fhir:v "171445" ] ; fhir:display [ fhir:v "Muscle filaminopathy" ] ] [ fhir:code [ fhir:v "1715" ] ; fhir:display [ fhir:v "Trisomy 18p" ] ] [ fhir:code [ fhir:v "1716" ] ; fhir:display [ fhir:v "Distal duplication 18q" ] ] [ fhir:code [ fhir:v "171607" ] ; fhir:display [ fhir:v "X-linked spastic paraplegia type 34" ] ] [ fhir:code [ fhir:v "171612" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 37" ] ] [ fhir:code [ fhir:v "171617" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 38" ] ] [ fhir:code [ fhir:v "171622" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 32" ] ] [ fhir:code [ fhir:v "171629" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 35" ] ] [ fhir:code [ fhir:v "171673" ] ; fhir:display [ fhir:v "Limbal stem cell deficiency" ] ] [ fhir:code [ fhir:v "171680" ] ; fhir:display [ fhir:v "Lissencephaly due to TUBA1A mutation" ] ] [ fhir:code [ fhir:v "171684" ] ; fhir:display [ fhir:v "Idiopathic bilateral vestibulopathy" ] ] [ fhir:code [ fhir:v "171690" ] ; fhir:display [ fhir:v "Metabolic myopathy due to lactate transporter defect" ] ] [ fhir:code [ fhir:v "171695" ] ; fhir:display [ fhir:v "Parkinsonian-pyramidal syndrome" ] ] [ fhir:code [ fhir:v "1717" ] ; fhir:display [ fhir:v "Distal duplication 19q" ] ] [ fhir:code [ fhir:v "171700" ] ; fhir:display [ fhir:v "Diffuse panbronchiolitis" ] ] [ fhir:code [ fhir:v "171703" ] ; fhir:display [ fhir:v "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome" ] ] [ fhir:code [ fhir:v "171706" ] ; fhir:display [ fhir:v "Short stature-delayed bone age due to thyroid hormone metabolism deficiency" ] ] [ fhir:code [ fhir:v "171709" ] ; fhir:display [ fhir:v "Male infertility due to globozoospermia" ] ] [ fhir:code [ fhir:v "171719" ] ; fhir:display [ fhir:v "Cutis laxa-Marfanoid syndrome" ] ] [ fhir:code [ fhir:v "171723" ] ; fhir:display [ fhir:v "White sponge nevus" ] ] [ fhir:code [ fhir:v "171829" ] ; fhir:display [ fhir:v "6q16 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "171839" ] ; fhir:display [ fhir:v "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome" ] ] [ fhir:code [ fhir:v "171844" ] ; fhir:display [ fhir:v "Blindness-scoliosis-arachnodactyly syndrome" ] ] [ fhir:code [ fhir:v "171848" ] ; fhir:display [ fhir:v "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" ] ] [ fhir:code [ fhir:v "171851" ] ; fhir:display [ fhir:v "MEDNIK syndrome" ] ] [ fhir:code [ fhir:v "171863" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 42" ] ] [ fhir:code [ fhir:v "171866" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, aggrecan type" ] ] [ fhir:code [ fhir:v "171871" ] ; fhir:display [ fhir:v "Renal pseudohypoaldosteronism type 1" ] ] [ fhir:code [ fhir:v "171876" ] ; fhir:display [ fhir:v "Generalized pseudohypoaldosteronism type 1" ] ] [ fhir:code [ fhir:v "171881" ] ; fhir:display [ fhir:v "Cap myopathy" ] ] [ fhir:code [ fhir:v "171886" ] ; fhir:display [ fhir:v "Cylindrical spirals myopathy" ] ] [ fhir:code [ fhir:v "171889" ] ; fhir:display [ fhir:v "Myopathy with hexagonally cross-linked tubular arrays" ] ] [ fhir:code [ fhir:v "171929" ] ; fhir:display [ fhir:v "Trisomy 10p" ] ] [ fhir:code [ fhir:v "172" ] ; fhir:display [ fhir:v "Progressive familial intrahepatic cholestasis" ] ] [ fhir:code [ fhir:v "1723" ] ; fhir:display [ fhir:v "Mosaic trisomy 2" ] ] [ fhir:code [ fhir:v "1724" ] ; fhir:display [ fhir:v "Mosaic trisomy 20" ] ] [ fhir:code [ fhir:v "1727" ] ; fhir:display [ fhir:v "22q11.2 duplication syndrome" ] ] [ fhir:code [ fhir:v "173" ] ; fhir:display [ fhir:v "Cholera" ] ] [ fhir:code [ fhir:v "1738" ] ; fhir:display [ fhir:v "Trisomy 4p" ] ] [ fhir:code [ fhir:v "174" ] ; fhir:display [ fhir:v "Metaphyseal chondrodysplasia, Schmid type" ] ] [ fhir:code [ fhir:v "1742" ] ; fhir:display [ fhir:v "Trisomy 5p" ] ] [ fhir:code [ fhir:v "1745" ] ; fhir:display [ fhir:v "Distal duplication 6p" ] ] [ fhir:code [ fhir:v "1747" ] ; fhir:display [ fhir:v "Mosaic trisomy 7" ] ] [ fhir:code [ fhir:v "175" ] ; fhir:display [ fhir:v "Cartilage-hair hypoplasia" ] ] [ fhir:code [ fhir:v "1752" ] ; fhir:display [ fhir:v "Trisomy 8q" ] ] [ fhir:code [ fhir:v "1756" ] ; fhir:display [ fhir:v "Caudal duplication" ] ] [ fhir:code [ fhir:v "1757" ] ; fhir:display [ fhir:v "Fibular dimelia-diplopodia syndrome" ] ] [ fhir:code [ fhir:v "1759" ] ; fhir:display [ fhir:v "Thoraco-abdominal enteric duplication" ] ] [ fhir:code [ fhir:v "1762" ] ; fhir:display [ fhir:v "Proximal Xq28 duplication syndrome" ] ] [ fhir:code [ fhir:v "1764" ] ; fhir:display [ fhir:v "Familial dysautonomia" ] ] [ fhir:code [ fhir:v "1765" ] ; fhir:display [ fhir:v "Dyschondrosteosis-nephritis syndrome" ] ] [ fhir:code [ fhir:v "1766" ] ; fhir:display [ fhir:v "Dysequilibrium syndrome" ] ] [ fhir:code [ fhir:v "1768" ] ; fhir:display [ fhir:v "Familial caudal dysgenesis" ] ] [ fhir:code [ fhir:v "177" ] ; fhir:display [ fhir:v "Rhizomelic chondrodysplasia punctata" ] ] [ fhir:code [ fhir:v "1770" ] ; fhir:display [ fhir:v "XY type gonadal dysgenesis-associated anomalies syndrome" ] ] [ fhir:code [ fhir:v "1772" ] ; fhir:display [ fhir:v "45,X/46,XY mixed gonadal dysgenesis" ] ] [ fhir:code [ fhir:v "1775" ] ; fhir:display [ fhir:v "Dyskeratosis congenita" ] ] [ fhir:code [ fhir:v "1777" ] ; fhir:display [ fhir:v "Temtamy syndrome" ] ] [ fhir:code [ fhir:v "1778" ] ; fhir:display [ fhir:v "Facial dysmorphism-shawl scrotum-joint laxity syndrome" ] ] [ fhir:code [ fhir:v "1779" ] ; fhir:display [ fhir:v "Dysmorphism-cleft palate-loose skin syndrome" ] ] [ fhir:code [ fhir:v "177901" ] ; fhir:display [ fhir:v "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1" ] ] [ fhir:code [ fhir:v "177904" ] ; fhir:display [ fhir:v "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" ] ] [ fhir:code [ fhir:v "177907" ] ; fhir:display [ fhir:v "Prader-Willi syndrome due to translocation" ] ] [ fhir:code [ fhir:v "177910" ] ; fhir:display [ fhir:v "Prader-Willi syndrome due to imprinting mutation" ] ] [ fhir:code [ fhir:v "177926" ] ; fhir:display [ fhir:v "Bleeding disorder in hemophilia A carriers" ] ] [ fhir:code [ fhir:v "177929" ] ; fhir:display [ fhir:v "Bleeding disorder in hemophilia B carriers" ] ] [ fhir:code [ fhir:v "178" ] ; fhir:display [ fhir:v "Chordoma" ] ] [ fhir:code [ fhir:v "1780" ] ; fhir:display [ fhir:v "Thakker-Donnai syndrome" ] ] [ fhir:code [ fhir:v "178029" ] ; fhir:display [ fhir:v "Central diabetes insipidus" ] ] [ fhir:code [ fhir:v "178145" ] ; fhir:display [ fhir:v "Moderate multiminicore disease with hand involvement" ] ] [ fhir:code [ fhir:v "178148" ] ; fhir:display [ fhir:v "Antenatal multiminicore disease with arthrogryposis multiplex congenita" ] ] [ fhir:code [ fhir:v "1782" ] ; fhir:display [ fhir:v "Dysosteosclerosis" ] ] [ fhir:code [ fhir:v "178303" ] ; fhir:display [ fhir:v "8q22.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "178307" ] ; fhir:display [ fhir:v "Reticulate acropigmentation of Kitamura" ] ] [ fhir:code [ fhir:v "178311" ] ; fhir:display [ fhir:v "Isolated sternocostoclavicular hyperostosis" ] ] [ fhir:code [ fhir:v "178315" ] ; fhir:display [ fhir:v "Undifferentiated embryonal sarcoma of the liver" ] ] [ fhir:code [ fhir:v "178320" ] ; fhir:display [ fhir:v "Acute lung injury" ] ] [ fhir:code [ fhir:v "178333" ] ; fhir:display [ fhir:v "Åland Islands eye disease" ] ] [ fhir:code [ fhir:v "178338" ] ; fhir:display [ fhir:v "UV-sensitive syndrome" ] ] [ fhir:code [ fhir:v "178342" ] ; fhir:display [ fhir:v "Inflammatory myofibroblastic tumor" ] ] [ fhir:code [ fhir:v "178345" ] ; fhir:display [ fhir:v "Aromatase excess syndrome" ] ] [ fhir:code [ fhir:v "178355" ] ; fhir:display [ fhir:v "Smith-McCort dysplasia" ] ] [ fhir:code [ fhir:v "178364" ] ; fhir:display [ fhir:v "Syndromic microphthalmia type 5" ] ] [ fhir:code [ fhir:v "178377" ] ; fhir:display [ fhir:v "Osteosclerosis-developmental delay-craniosynostosis syndrome" ] ] [ fhir:code [ fhir:v "178382" ] ; fhir:display [ fhir:v "Congenital vertical talus" ] ] [ fhir:code [ fhir:v "178389" ] ; fhir:display [ fhir:v "Osteopetrosis-hypogammaglobulinemia syndrome" ] ] [ fhir:code [ fhir:v "178396" ] ; fhir:display [ fhir:v "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" ] ] [ fhir:code [ fhir:v "1784" ] ; fhir:display [ fhir:v "Acrofrontofacionasal dysostosis" ] ] [ fhir:code [ fhir:v "178400" ] ; fhir:display [ fhir:v "Distal myopathy with anterior tibial onset" ] ] [ fhir:code [ fhir:v "178461" ] ; fhir:display [ fhir:v "X-linked myopathy with postural muscle atrophy" ] ] [ fhir:code [ fhir:v "178464" ] ; fhir:display [ fhir:v "Hereditary myopathy with early respiratory failure" ] ] [ fhir:code [ fhir:v "178469" ] ; fhir:display [ fhir:v "Autosomal dominant non-syndromic intellectual disability" ] ] [ fhir:code [ fhir:v "178475" ] ; fhir:display [ fhir:v "Wound botulism" ] ] [ fhir:code [ fhir:v "178478" ] ; fhir:display [ fhir:v "Infant botulism" ] ] [ fhir:code [ fhir:v "178481" ] ; fhir:display [ fhir:v "Intestinal botulism" ] ] [ fhir:code [ fhir:v "178487" ] ; fhir:display [ fhir:v "Adult intestinal botulism" ] ] [ fhir:code [ fhir:v "178493" ] ; fhir:display [ fhir:v "Myopic macular degeneration" ] ] [ fhir:code [ fhir:v "178506" ] ; fhir:display [ fhir:v "Brain calcification, Rajab type" ] ] [ fhir:code [ fhir:v "178509" ] ; fhir:display [ fhir:v "Perry syndrome" ] ] [ fhir:code [ fhir:v "178512" ] ; fhir:display [ fhir:v "Folliculotropic mycosis fungoides" ] ] [ fhir:code [ fhir:v "178517" ] ; fhir:display [ fhir:v "Localized pagetoid reticulosis" ] ] [ fhir:code [ fhir:v "178522" ] ; fhir:display [ fhir:v "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma" ] ] [ fhir:code [ fhir:v "178528" ] ; fhir:display [ fhir:v "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma" ] ] [ fhir:code [ fhir:v "178533" ] ; fhir:display [ fhir:v "Primary cutaneous gamma/delta-positive T-cell lymphoma" ] ] [ fhir:code [ fhir:v "178536" ] ; fhir:display [ fhir:v "Primary cutaneous marginal zone B-cell lymphoma" ] ] [ fhir:code [ fhir:v "178540" ] ; fhir:display [ fhir:v "Primary cutaneous follicle center lymphoma" ] ] [ fhir:code [ fhir:v "178544" ] ; fhir:display [ fhir:v "Primary cutaneous diffuse large B-cell lymphoma, leg type" ] ] [ fhir:code [ fhir:v "1786" ] ; fhir:display [ fhir:v "Acrofacial dysostosis, Catania type" ] ] [ fhir:code [ fhir:v "1787" ] ; fhir:display [ fhir:v "Acrofacial dysostosis, Palagonia type" ] ] [ fhir:code [ fhir:v "1788" ] ; fhir:display [ fhir:v "Acrofacial dysostosis, Rodríguez type" ] ] [ fhir:code [ fhir:v "179" ] ; fhir:display [ fhir:v "Birdshot chorioretinopathy" ] ] [ fhir:code [ fhir:v "1790" ] ; fhir:display [ fhir:v "Hypomandibular faciocranial dysostosis" ] ] [ fhir:code [ fhir:v "1791" ] ; fhir:display [ fhir:v "Frontofacionasal dysplasia" ] ] [ fhir:code [ fhir:v "1794" ] ; fhir:display [ fhir:v "Oculomaxillofacial dysostosis" ] ] [ fhir:code [ fhir:v "179490" ] ; fhir:display [ fhir:v "Obesity due to congenital leptin resistance" ] ] [ fhir:code [ fhir:v "179494" ] ; fhir:display [ fhir:v "Obesity due to leptin receptor gene deficiency" ] ] [ fhir:code [ fhir:v "1795" ] ; fhir:display [ fhir:v "Peripheral dysostosis" ] ] [ fhir:code [ fhir:v "1797" ] ; fhir:display [ fhir:v "Autosomal dominant spondylocostal dysostosis" ] ] [ fhir:code [ fhir:v "1798" ] ; fhir:display [ fhir:v "Dysostosis, Stanescu type" ] ] [ fhir:code [ fhir:v "1799" ] ; fhir:display [ fhir:v "Familial developmental dysphasia" ] ] [ fhir:code [ fhir:v "18" ] ; fhir:display [ fhir:v "Distal renal tubular acidosis" ] ] [ fhir:code [ fhir:v "180" ] ; fhir:display [ fhir:v "Choroideremia" ] ] [ fhir:code [ fhir:v "180074" ] ; fhir:display [ fhir:v "True unicornuate uterus" ] ] [ fhir:code [ fhir:v "180079" ] ; fhir:display [ fhir:v "Pseudounicornuate uterus" ] ] [ fhir:code [ fhir:v "180086" ] ; fhir:display [ fhir:v "Didelphys uterus" ] ] [ fhir:code [ fhir:v "1801" ] ; fhir:display [ fhir:v "Kyphomelic dysplasia" ] ] [ fhir:code [ fhir:v "180106" ] ; fhir:display [ fhir:v "Bicervical bicornuate uterus and blind hemivagina" ] ] [ fhir:code [ fhir:v "180111" ] ; fhir:display [ fhir:v "Bicervical bicornuate uterus with patent cervix and vagina" ] ] [ fhir:code [ fhir:v "180114" ] ; fhir:display [ fhir:v "Unicervical bicornuate uterus" ] ] [ fhir:code [ fhir:v "180126" ] ; fhir:display [ fhir:v "Complete septate uterus" ] ] [ fhir:code [ fhir:v "180129" ] ; fhir:display [ fhir:v "Partial septate uterus" ] ] [ fhir:code [ fhir:v "180139" ] ; fhir:display [ fhir:v "Uterine hypoplasia" ] ] [ fhir:code [ fhir:v "180142" ] ; fhir:display [ fhir:v "Absence of uterine body" ] ] [ fhir:code [ fhir:v "180145" ] ; fhir:display [ fhir:v "Uterine cervical aplasia and agenesis" ] ] [ fhir:code [ fhir:v "180154" ] ; fhir:display [ fhir:v "Septate vagina" ] ] [ fhir:code [ fhir:v "180157" ] ; fhir:display [ fhir:v "Longitudinal vaginal septum" ] ] [ fhir:code [ fhir:v "180160" ] ; fhir:display [ fhir:v "Transverse vaginal septum" ] ] [ fhir:code [ fhir:v "180176" ] ; fhir:display [ fhir:v "Familial juvenile hypertrophy of the breast" ] ] [ fhir:code [ fhir:v "180182" ] ; fhir:display [ fhir:v "Supernumerary breasts" ] ] [ fhir:code [ fhir:v "180188" ] ; fhir:display [ fhir:v "Isolated congenital breast hypoplasia/aplasia" ] ] [ fhir:code [ fhir:v "1802" ] ; fhir:display [ fhir:v "Ghosal hematodiaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "180226" ] ; fhir:display [ fhir:v "Embryonal carcinoma" ] ] [ fhir:code [ fhir:v "180229" ] ; fhir:display [ fhir:v "Polyembryoma" ] ] [ fhir:code [ fhir:v "180234" ] ; fhir:display [ fhir:v "Mixed germ cell tumor" ] ] [ fhir:code [ fhir:v "180237" ] ; fhir:display [ fhir:v "Benign tumor of fallopian tubes" ] ] [ fhir:code [ fhir:v "180242" ] ; fhir:display [ fhir:v "Malignant tumor of fallopian tubes" ] ] [ fhir:code [ fhir:v "180247" ] ; fhir:display [ fhir:v "Vaginal carcinoma" ] ] [ fhir:code [ fhir:v "180261" ] ; fhir:display [ fhir:v "Phyllodes tumor of the breast" ] ] [ fhir:code [ fhir:v "180267" ] ; fhir:display [ fhir:v "Giant adenofibroma of the breast" ] ] [ fhir:code [ fhir:v "180275" ] ; fhir:display [ fhir:v "Paget disease of the nipple" ] ] [ fhir:code [ fhir:v "1803" ] ; fhir:display [ fhir:v "Thoracomelic dysplasia" ] ] [ fhir:code [ fhir:v "1806" ] ; fhir:display [ fhir:v "Ectodermal dysplasia-blindness syndrome" ] ] [ fhir:code [ fhir:v "1807" ] ; fhir:display [ fhir:v "Focal facial dermal dysplasia type III" ] ] [ fhir:code [ fhir:v "1808" ] ; fhir:display [ fhir:v "Hidrotic ectodermal dysplasia, Christianson-Fourie type" ] ] [ fhir:code [ fhir:v "1809" ] ; fhir:display [ fhir:v "Hidrotic ectodermal dysplasia, Halal type" ] ] [ fhir:code [ fhir:v "181" ] ; fhir:display [ fhir:v "X-linked hypohidrotic ectodermal dysplasia" ] ] [ fhir:code [ fhir:v "1810" ] ; fhir:display [ fhir:v "Autosomal dominant hypohidrotic ectodermal dysplasia" ] ] [ fhir:code [ fhir:v "1811" ] ; fhir:display [ fhir:v "Odontomicronychial dysplasia" ] ] [ fhir:code [ fhir:v "1812" ] ; fhir:display [ fhir:v "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome" ] ] [ fhir:code [ fhir:v "1816" ] ; fhir:display [ fhir:v "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome" ] ] [ fhir:code [ fhir:v "1818" ] ; fhir:display [ fhir:v "Ectodermal dysplasia, trichoodontoonychial type" ] ] [ fhir:code [ fhir:v "182" ] ; fhir:display [ fhir:v "Chromomycosis" ] ] [ fhir:code [ fhir:v "182050" ] ; fhir:display [ fhir:v "MYH9-related disease" ] ] [ fhir:code [ fhir:v "182127" ] ; fhir:display [ fhir:v "Extragonadal germinoma" ] ] [ fhir:code [ fhir:v "1822" ] ; fhir:display [ fhir:v "Dysplasia epiphysealis hemimelica" ] ] [ fhir:code [ fhir:v "1824" ] ; fhir:display [ fhir:v "Lowry-Wood syndrome" ] ] [ fhir:code [ fhir:v "1825" ] ; fhir:display [ fhir:v "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "1826" ] ; fhir:display [ fhir:v "Frontometaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "1827" ] ; fhir:display [ fhir:v "Acromelic frontonasal dysplasia" ] ] [ fhir:code [ fhir:v "183" ] ; fhir:display [ fhir:v "Eosinophilic granulomatosis with polyangiitis" ] ] [ fhir:code [ fhir:v "1830" ] ; fhir:display [ fhir:v "Schimke immuno-osseous dysplasia" ] ] [ fhir:code [ fhir:v "1832" ] ; fhir:display [ fhir:v "Lethal osteosclerotic bone dysplasia" ] ] [ fhir:code [ fhir:v "1834" ] ; fhir:display [ fhir:v "Axial mesodermal dysplasia spectrum" ] ] [ fhir:code [ fhir:v "1836" ] ; fhir:display [ fhir:v "Mesomelic dysplasia, Kantaputra type" ] ] [ fhir:code [ fhir:v "183663" ] ; fhir:display [ fhir:v "Hyper-IgM syndrome with susceptibility to opportunistic infections" ] ] [ fhir:code [ fhir:v "183666" ] ; fhir:display [ fhir:v "Hyper-IgM syndrome without susceptibility to opportunistic infections" ] ] [ fhir:code [ fhir:v "183675" ] ; fhir:display [ fhir:v "Recurrent infections associated with rare immunoglobulin isotypes deficiency" ] ] [ fhir:code [ fhir:v "183678" ] ; fhir:display [ fhir:v "Hermansky-Pudlak syndrome due to AP-3 deficiency" ] ] [ fhir:code [ fhir:v "1837" ] ; fhir:display [ fhir:v "Ulna metaphyseal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "183707" ] ; fhir:display [ fhir:v "Neutrophil immunodeficiency syndrome" ] ] [ fhir:code [ fhir:v "183713" ] ; fhir:display [ fhir:v "Bacterial susceptibility due to TLR signaling pathway deficiency" ] ] [ fhir:code [ fhir:v "1839" ] ; fhir:display [ fhir:v "Hereditary mucoepithelial dysplasia" ] ] [ fhir:code [ fhir:v "184" ] ; fhir:display [ fhir:v "Cherubism" ] ] [ fhir:code [ fhir:v "1842" ] ; fhir:display [ fhir:v "Bone dysplasia, lethal Holmgren type" ] ] [ fhir:code [ fhir:v "1848" ] ; fhir:display [ fhir:v "Renal agenesis, bilateral" ] ] [ fhir:code [ fhir:v "185" ] ; fhir:display [ fhir:v "Scimitar syndrome" ] ] [ fhir:code [ fhir:v "1851" ] ; fhir:display [ fhir:v "Multicystic dysplastic kidney" ] ] [ fhir:code [ fhir:v "1852" ] ; fhir:display [ fhir:v "X-linked retinal dysplasia" ] ] [ fhir:code [ fhir:v "1855" ] ; fhir:display [ fhir:v "Spondyloenchondrodysplasia" ] ] [ fhir:code [ fhir:v "1856" ] ; fhir:display [ fhir:v "Spondyloperipheral dysplasia-short ulna syndrome" ] ] [ fhir:code [ fhir:v "1858" ] ; fhir:display [ fhir:v "Skeletal dysplasia-epilepsy-short stature syndrome" ] ] [ fhir:code [ fhir:v "186" ] ; fhir:display [ fhir:v "Primary biliary cholangitis" ] ] [ fhir:code [ fhir:v "1860" ] ; fhir:display [ fhir:v "Thanatophoric dysplasia type 1" ] ] [ fhir:code [ fhir:v "1861" ] ; fhir:display [ fhir:v "Thoracic dysplasia-hydrocephalus syndrome" ] ] [ fhir:code [ fhir:v "1865" ] ; fhir:display [ fhir:v "Dyssegmental dysplasia, Silverman-Handmaker type" ] ] [ fhir:code [ fhir:v "1867" ] ; fhir:display [ fhir:v "Hereditary bullous dystrophy, macular type" ] ] [ fhir:code [ fhir:v "1871" ] ; fhir:display [ fhir:v "Progressive cone dystrophy" ] ] [ fhir:code [ fhir:v "1872" ] ; fhir:display [ fhir:v "Cone rod dystrophy" ] ] [ fhir:code [ fhir:v "1873" ] ; fhir:display [ fhir:v "Jalili syndrome" ] ] [ fhir:code [ fhir:v "1875" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "1876" ] ; fhir:display [ fhir:v "Oculogastrointestinal muscular dystrophy" ] ] [ fhir:code [ fhir:v "1878" ] ; fhir:display [ fhir:v "TRIM32-related limb-girdle muscular dystrophy R8" ] ] [ fhir:code [ fhir:v "1879" ] ; fhir:display [ fhir:v "Melorheostosis with osteopoikilosis" ] ] [ fhir:code [ fhir:v "188" ] ; fhir:display [ fhir:v "Systemic capillary leak syndrome" ] ] [ fhir:code [ fhir:v "1880" ] ; fhir:display [ fhir:v "Ebstein malformation of the tricuspid valve" ] ] [ fhir:code [ fhir:v "1882" ] ; fhir:display [ fhir:v "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome" ] ] [ fhir:code [ fhir:v "1883" ] ; fhir:display [ fhir:v "Ectodermal dysplasia-sensorineural deafness syndrome" ] ] [ fhir:code [ fhir:v "1884" ] ; fhir:display [ fhir:v "Ectopia lentis-chorioretinal dystrophy-myopia syndrome" ] ] [ fhir:code [ fhir:v "1885" ] ; fhir:display [ fhir:v "Isolated ectopia lentis" ] ] [ fhir:code [ fhir:v "189" ] ; fhir:display [ fhir:v "Hidrotic ectodermal dysplasia" ] ] [ fhir:code [ fhir:v "1891" ] ; fhir:display [ fhir:v "Intellectual disability-spasticity-ectrodactyly syndrome" ] ] [ fhir:code [ fhir:v "1892" ] ; fhir:display [ fhir:v "Ectrodactyly-polydactyly syndrome" ] ] [ fhir:code [ fhir:v "189427" ] ; fhir:display [ fhir:v "Cushing syndrome due to bilateral macronodular adrenocortical disease" ] ] [ fhir:code [ fhir:v "189466" ] ; fhir:display [ fhir:v "Familial isolated hypoparathyroidism due to impaired PTH secretion" ] ] [ fhir:code [ fhir:v "1895" ] ; fhir:display [ fhir:v "Edinburgh malformation syndrome" ] ] [ fhir:code [ fhir:v "1896" ] ; fhir:display [ fhir:v "EEC syndrome" ] ] [ fhir:code [ fhir:v "1897" ] ; fhir:display [ fhir:v "EEM syndrome" ] ] [ fhir:code [ fhir:v "1899" ] ; fhir:display [ fhir:v "Arthrochalasia Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "190" ] ; fhir:display [ fhir:v "Coats disease" ] ] [ fhir:code [ fhir:v "1900" ] ; fhir:display [ fhir:v "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" ] ] [ fhir:code [ fhir:v "1901" ] ; fhir:display [ fhir:v "Dermatosparaxis Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "1902" ] ; fhir:display [ fhir:v "Ehrlichiosis" ] ] [ fhir:code [ fhir:v "1906" ] ; fhir:display [ fhir:v "Fetal valproate spectrum disorder" ] ] [ fhir:code [ fhir:v "1908" ] ; fhir:display [ fhir:v "Aminopterin/methotrexate embryofetopathy" ] ] [ fhir:code [ fhir:v "1909" ] ; fhir:display [ fhir:v "Indomethacin embryofetopathy" ] ] [ fhir:code [ fhir:v "191" ] ; fhir:display [ fhir:v "Cockayne syndrome" ] ] [ fhir:code [ fhir:v "1910" ] ; fhir:display [ fhir:v "Fetal iodine syndrome" ] ] [ fhir:code [ fhir:v "1911" ] ; fhir:display [ fhir:v "Cocaine embryofetopathy" ] ] [ fhir:code [ fhir:v "1912" ] ; fhir:display [ fhir:v "Fetal hydantoin syndrome" ] ] [ fhir:code [ fhir:v "1913" ] ; fhir:display [ fhir:v "Fetal trimethadione syndrome" ] ] [ fhir:code [ fhir:v "1914" ] ; fhir:display [ fhir:v "Vitamin K antagonist embryofetopathy" ] ] [ fhir:code [ fhir:v "1915" ] ; fhir:display [ fhir:v "Fetal alcohol syndrome" ] ] [ fhir:code [ fhir:v "1916" ] ; fhir:display [ fhir:v "Diethylstilbestrol syndrome" ] ] [ fhir:code [ fhir:v "1917" ] ; fhir:display [ fhir:v "Fetal methylmercury syndrome" ] ] [ fhir:code [ fhir:v "1918" ] ; fhir:display [ fhir:v "Fetal minoxidil syndrome" ] ] [ fhir:code [ fhir:v "1919" ] ; fhir:display [ fhir:v "Phenobarbital embryopathy" ] ] [ fhir:code [ fhir:v "192" ] ; fhir:display [ fhir:v "Coffin-Lowry syndrome" ] ] [ fhir:code [ fhir:v "1920" ] ; fhir:display [ fhir:v "Toluene embryopathy" ] ] [ fhir:code [ fhir:v "1923" ] ; fhir:display [ fhir:v "Methimazole embryofetopathy" ] ] [ fhir:code [ fhir:v "1926" ] ; fhir:display [ fhir:v "Diabetic embryopathy" ] ] [ fhir:code [ fhir:v "1927" ] ; fhir:display [ fhir:v "Emery-Nelson syndrome" ] ] [ fhir:code [ fhir:v "1928" ] ; fhir:display [ fhir:v "Congenital lobar emphysema" ] ] [ fhir:code [ fhir:v "1929" ] ; fhir:display [ fhir:v "Rasmussen subacute encephalitis" ] ] [ fhir:code [ fhir:v "193" ] ; fhir:display [ fhir:v "Cohen syndrome" ] ] [ fhir:code [ fhir:v "1930" ] ; fhir:display [ fhir:v "Herpes simplex virus encephalitis" ] ] [ fhir:code [ fhir:v "1931" ] ; fhir:display [ fhir:v "Frontal encephalocele" ] ] [ fhir:code [ fhir:v "1933" ] ; fhir:display [ fhir:v "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" ] ] [ fhir:code [ fhir:v "1934" ] ; fhir:display [ fhir:v "Early infantile epileptic encephalopathy" ] ] [ fhir:code [ fhir:v "1935" ] ; fhir:display [ fhir:v "Early myoclonic encephalopathy" ] ] [ fhir:code [ fhir:v "1937" ] ; fhir:display [ fhir:v "Eng-Strom syndrome" ] ] [ fhir:code [ fhir:v "1941" ] ; fhir:display [ fhir:v "Juvenile absence epilepsy" ] ] [ fhir:code [ fhir:v "1942" ] ; fhir:display [ fhir:v "Myoclonic-astatic epilepsy" ] ] [ fhir:code [ fhir:v "1943" ] ; fhir:display [ fhir:v "Early-onset progressive encephalopathy with migrant continuous myoclonus" ] ] [ fhir:code [ fhir:v "1945" ] ; fhir:display [ fhir:v "Rolandic epilepsy" ] ] [ fhir:code [ fhir:v "1946" ] ; fhir:display [ fhir:v "Amelocerebrohypohidrotic syndrome" ] ] [ fhir:code [ fhir:v "1947" ] ; fhir:display [ fhir:v "Progressive epilepsy-intellectual disability syndrome, Finnish type" ] ] [ fhir:code [ fhir:v "1948" ] ; fhir:display [ fhir:v "Epilepsy-microcephaly-skeletal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "1949" ] ; fhir:display [ fhir:v "Benign familial neonatal epilepsy" ] ] [ fhir:code [ fhir:v "195" ] ; fhir:display [ fhir:v "Cat-eye syndrome" ] ] [ fhir:code [ fhir:v "1951" ] ; fhir:display [ fhir:v "Epilepsy-telangiectasia syndrome" ] ] [ fhir:code [ fhir:v "1952" ] ; fhir:display [ fhir:v "Epiphyseal stippling-osteoclastic hyperplasia syndrome" ] ] [ fhir:code [ fhir:v "1954" ] ; fhir:display [ fhir:v "Congenital lethal erythroderma" ] ] [ fhir:code [ fhir:v "1955" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 34" ] ] [ fhir:code [ fhir:v "1957" ] ; fhir:display [ fhir:v "Esthesioneuroblastoma" ] ] [ fhir:code [ fhir:v "1959" ] ; fhir:display [ fhir:v "Evans syndrome" ] ] [ fhir:code [ fhir:v "1962" ] ; fhir:display [ fhir:v "Exostoses-anetodermia-brachydactyly type E syndrome" ] ] [ fhir:code [ fhir:v "1964" ] ; fhir:display [ fhir:v "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "1968" ] ; fhir:display [ fhir:v "Flat face-microstomia-ear anomaly syndrome" ] ] [ fhir:code [ fhir:v "1969" ] ; fhir:display [ fhir:v "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome" ] ] [ fhir:code [ fhir:v "1970" ] ; fhir:display [ fhir:v "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome" ] ] [ fhir:code [ fhir:v "1972" ] ; fhir:display [ fhir:v "Lethal faciocardiomelic dysplasia" ] ] [ fhir:code [ fhir:v "1973" ] ; fhir:display [ fhir:v "Faciocardiorenal syndrome" ] ] [ fhir:code [ fhir:v "1974" ] ; fhir:display [ fhir:v "Autosomal recessive faciodigitogenital syndrome" ] ] [ fhir:code [ fhir:v "1979" ] ; fhir:display [ fhir:v "Lipodystrophy due to peptidic growth factors deficiency" ] ] [ fhir:code [ fhir:v "198" ] ; fhir:display [ fhir:v "Occipital horn syndrome" ] ] [ fhir:code [ fhir:v "1980" ] ; fhir:display [ fhir:v "Bilateral striopallidodentate calcinosis" ] ] [ fhir:code [ fhir:v "1986" ] ; fhir:display [ fhir:v "Gollop-Wolfgang complex" ] ] [ fhir:code [ fhir:v "1987" ] ; fhir:display [ fhir:v "Femoral agenesis/hypoplasia" ] ] [ fhir:code [ fhir:v "1988" ] ; fhir:display [ fhir:v "Femoral-facial syndrome" ] ] [ fhir:code [ fhir:v "199" ] ; fhir:display [ fhir:v "Cornelia de Lange syndrome" ] ] [ fhir:code [ fhir:v "199241" ] ; fhir:display [ fhir:v "Pulmonary capillary hemangiomatosis" ] ] [ fhir:code [ fhir:v "199244" ] ; fhir:display [ fhir:v "Nelson syndrome" ] ] [ fhir:code [ fhir:v "199247" ] ; fhir:display [ fhir:v "Corticosteroid-binding globulin deficiency" ] ] [ fhir:code [ fhir:v "199251" ] ; fhir:display [ fhir:v "Ledderhose disease" ] ] [ fhir:code [ fhir:v "199260" ] ; fhir:display [ fhir:v "Calcifying aponeurotic fibroma" ] ] [ fhir:code [ fhir:v "199267" ] ; fhir:display [ fhir:v "Infantile digital fibromatosis" ] ] [ fhir:code [ fhir:v "199276" ] ; fhir:display [ fhir:v "Familial multiple lipomatosis" ] ] [ fhir:code [ fhir:v "199279" ] ; fhir:display [ fhir:v "Familial angiolipomatosis" ] ] [ fhir:code [ fhir:v "199282" ] ; fhir:display [ fhir:v "Harlequin syndrome" ] ] [ fhir:code [ fhir:v "199285" ] ; fhir:display [ fhir:v "Hereditary hypercarotenemia and vitamin A deficiency" ] ] [ fhir:code [ fhir:v "199293" ] ; fhir:display [ fhir:v "Congenital microgastria" ] ] [ fhir:code [ fhir:v "199296" ] ; fhir:display [ fhir:v "Congenital isolated ACTH deficiency" ] ] [ fhir:code [ fhir:v "199299" ] ; fhir:display [ fhir:v "Late-onset isolated ACTH deficiency" ] ] [ fhir:code [ fhir:v "1993" ] ; fhir:display [ fhir:v "Pai syndrome" ] ] [ fhir:code [ fhir:v "199302" ] ; fhir:display [ fhir:v "Isolated cleft lip" ] ] [ fhir:code [ fhir:v "199306" ] ; fhir:display [ fhir:v "Cleft lip/palate" ] ] [ fhir:code [ fhir:v "199310" ] ; fhir:display [ fhir:v "Tetragametic chimerism" ] ] [ fhir:code [ fhir:v "199315" ] ; fhir:display [ fhir:v "Familial clubfoot with or without associated lower limb anomalies" ] ] [ fhir:code [ fhir:v "199318" ] ; fhir:display [ fhir:v "15q13.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "199323" ] ; fhir:display [ fhir:v "Endophthalmitis" ] ] [ fhir:code [ fhir:v "199326" ] ; fhir:display [ fhir:v "Isolated autosomal dominant hypomagnesemia, Glaudemans type" ] ] [ fhir:code [ fhir:v "199329" ] ; fhir:display [ fhir:v "Congenital myopathy, Paradas type" ] ] [ fhir:code [ fhir:v "199332" ] ; fhir:display [ fhir:v "Endocrine-cerebro-osteodysplasia syndrome" ] ] [ fhir:code [ fhir:v "199337" ] ; fhir:display [ fhir:v "Pancreatic insufficiency-anemia-hyperostosis syndrome" ] ] [ fhir:code [ fhir:v "199340" ] ; fhir:display [ fhir:v "Muscular dystrophy, Selcen type" ] ] [ fhir:code [ fhir:v "199343" ] ; fhir:display [ fhir:v "EAST syndrome" ] ] [ fhir:code [ fhir:v "199348" ] ; fhir:display [ fhir:v "Thiamine-responsive encephalopathy" ] ] [ fhir:code [ fhir:v "199351" ] ; fhir:display [ fhir:v "Adult-onset dystonia-parkinsonism" ] ] [ fhir:code [ fhir:v "199354" ] ; fhir:display [ fhir:v "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy" ] ] [ fhir:code [ fhir:v "1995" ] ; fhir:display [ fhir:v "Cleft lip-retinopathy syndrome" ] ] [ fhir:code [ fhir:v "199627" ] ; fhir:display [ fhir:v "Atypical autism" ] ] [ fhir:code [ fhir:v "199630" ] ; fhir:display [ fhir:v "Isolated cerebellar vermis hypoplasia" ] ] [ fhir:code [ fhir:v "199642" ] ; fhir:display [ fhir:v "Isolated congenital microcephaly" ] ] [ fhir:code [ fhir:v "199647" ] ; fhir:display [ fhir:v "Isolated encephalocele" ] ] [ fhir:code [ fhir:v "1997" ] ; fhir:display [ fhir:v "Blepharo-cheilo-odontic syndrome" ] ] [ fhir:code [ fhir:v "20" ] ; fhir:display [ fhir:v "3-hydroxy-3-methylglutaric aciduria" ] ] [ fhir:code [ fhir:v "200" ] ; fhir:display [ fhir:v "Isolated corpus callosum agenesis" ] ] [ fhir:code [ fhir:v "2001" ] ; fhir:display [ fhir:v "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome" ] ] [ fhir:code [ fhir:v "2003" ] ; fhir:display [ fhir:v "Cleft lip/palate-deafness-sacral lipoma syndrome" ] ] [ fhir:code [ fhir:v "2004" ] ; fhir:display [ fhir:v "Laryngotracheoesophageal cleft" ] ] [ fhir:code [ fhir:v "200418" ] ; fhir:display [ fhir:v "Immunodeficiency with factor I anomaly" ] ] [ fhir:code [ fhir:v "200421" ] ; fhir:display [ fhir:v "Immunodeficiency with factor H anomaly" ] ] [ fhir:code [ fhir:v "2006" ] ; fhir:display [ fhir:v "Median cleft lip/mandible" ] ] [ fhir:code [ fhir:v "2007" ] ; fhir:display [ fhir:v "Alar cartilages hypoplasia-coloboma-telecanthus syndrome" ] ] [ fhir:code [ fhir:v "2008" ] ; fhir:display [ fhir:v "Acrocardiofacial syndrome" ] ] [ fhir:code [ fhir:v "201" ] ; fhir:display [ fhir:v "Cowden syndrome" ] ] [ fhir:code [ fhir:v "2010" ] ; fhir:display [ fhir:v "Cleft palate-stapes fixation-oligodontia syndrome" ] ] [ fhir:code [ fhir:v "2013" ] ; fhir:display [ fhir:v "Cleft palate-large ears-small head syndrome" ] ] [ fhir:code [ fhir:v "2015" ] ; fhir:display [ fhir:v "Cleft palate-short stature-vertebral anomalies syndrome" ] ] [ fhir:code [ fhir:v "2016" ] ; fhir:display [ fhir:v "Cleft palate-lateral synechia syndrome" ] ] [ fhir:code [ fhir:v "2017" ] ; fhir:display [ fhir:v "Sternal cleft" ] ] [ fhir:code [ fhir:v "2019" ] ; fhir:display [ fhir:v "Femur-fibula-ulna complex" ] ] [ fhir:code [ fhir:v "202" ] ; fhir:display [ fhir:v "Crandall syndrome" ] ] [ fhir:code [ fhir:v "2020" ] ; fhir:display [ fhir:v "Congenital fiber-type disproportion myopathy" ] ] [ fhir:code [ fhir:v "2021" ] ; fhir:display [ fhir:v "Fibrochondrogenesis" ] ] [ fhir:code [ fhir:v "2022" ] ; fhir:display [ fhir:v "Endocardial fibroelastosis" ] ] [ fhir:code [ fhir:v "2023" ] ; fhir:display [ fhir:v "Undifferentiated pleomorphic sarcoma" ] ] [ fhir:code [ fhir:v "2024" ] ; fhir:display [ fhir:v "Hereditary gingival fibromatosis" ] ] [ fhir:code [ fhir:v "2025" ] ; fhir:display [ fhir:v "Gingival fibromatosis-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "2026" ] ; fhir:display [ fhir:v "Gingival fibromatosis-hypertrichosis syndrome" ] ] [ fhir:code [ fhir:v "2027" ] ; fhir:display [ fhir:v "Gingival fibromatosis-progressive deafness syndrome" ] ] [ fhir:code [ fhir:v "2028" ] ; fhir:display [ fhir:v "Juvenile hyaline fibromatosis" ] ] [ fhir:code [ fhir:v "2030" ] ; fhir:display [ fhir:v "Fibrosarcoma" ] ] [ fhir:code [ fhir:v "2031" ] ; fhir:display [ fhir:v "Hepatic fibrosis-renal cysts-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2032" ] ; fhir:display [ fhir:v "Idiopathic pulmonary fibrosis" ] ] [ fhir:code [ fhir:v "2035" ] ; fhir:display [ fhir:v "Lymphatic filariasis" ] ] [ fhir:code [ fhir:v "2036" ] ; fhir:display [ fhir:v "Scalp-ear-nipple syndrome" ] ] [ fhir:code [ fhir:v "2037" ] ; fhir:display [ fhir:v "Congenital aortopulmonary window" ] ] [ fhir:code [ fhir:v "2038" ] ; fhir:display [ fhir:v "Pulmonary arteriovenous malformation" ] ] [ fhir:code [ fhir:v "2039" ] ; fhir:display [ fhir:v "Congenital systemic arteriovenous fistula" ] ] [ fhir:code [ fhir:v "204" ] ; fhir:display [ fhir:v "Sporadic Creutzfeldt-Jakob disease" ] ] [ fhir:code [ fhir:v "2040" ] ; fhir:display [ fhir:v "Congenital respiratory-biliary fistula" ] ] [ fhir:code [ fhir:v "2041" ] ; fhir:display [ fhir:v "Coronary arterial fistula" ] ] [ fhir:code [ fhir:v "2044" ] ; fhir:display [ fhir:v "Floating-Harbor syndrome" ] ] [ fhir:code [ fhir:v "2045" ] ; fhir:display [ fhir:v "FLOTCH syndrome" ] ] [ fhir:code [ fhir:v "2047" ] ; fhir:display [ fhir:v "Flynn-Aird syndrome" ] ] [ fhir:code [ fhir:v "2048" ] ; fhir:display [ fhir:v "Foix-Chavany-Marie syndrome" ] ] [ fhir:code [ fhir:v "205" ] ; fhir:display [ fhir:v "Crigler-Najjar syndrome" ] ] [ fhir:code [ fhir:v "2050" ] ; fhir:display [ fhir:v "Cole-Carpenter syndrome" ] ] [ fhir:code [ fhir:v "2052" ] ; fhir:display [ fhir:v "Fraser syndrome" ] ] [ fhir:code [ fhir:v "2053" ] ; fhir:display [ fhir:v "Freeman-Sheldon syndrome" ] ] [ fhir:code [ fhir:v "2056" ] ; fhir:display [ fhir:v "Essential fructosuria" ] ] [ fhir:code [ fhir:v "2057" ] ; fhir:display [ fhir:v "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome" ] ] [ fhir:code [ fhir:v "2058" ] ; fhir:display [ fhir:v "Fryns-Smeets-Thiry syndrome" ] ] [ fhir:code [ fhir:v "2059" ] ; fhir:display [ fhir:v "Fryns syndrome" ] ] [ fhir:code [ fhir:v "2062" ] ; fhir:display [ fhir:v "Progressive non-infectious anterior vertebral fusion" ] ] [ fhir:code [ fhir:v "2063" ] ; fhir:display [ fhir:v "Splenogonadal fusion-limb defects-micrognathia syndrome" ] ] [ fhir:code [ fhir:v "2064" ] ; fhir:display [ fhir:v "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome" ] ] [ fhir:code [ fhir:v "206436" ] ; fhir:display [ fhir:v "Infantile Krabbe disease" ] ] [ fhir:code [ fhir:v "206443" ] ; fhir:display [ fhir:v "Late-infantile/juvenile Krabbe disease" ] ] [ fhir:code [ fhir:v "206448" ] ; fhir:display [ fhir:v "Adult Krabbe disease" ] ] [ fhir:code [ fhir:v "206470" ] ; fhir:display [ fhir:v "Cystadenoma of childhood" ] ] [ fhir:code [ fhir:v "206484" ] ; fhir:display [ fhir:v "Gonadoblastoma" ] ] [ fhir:code [ fhir:v "206489" ] ; fhir:display [ fhir:v "Malignant germ cell tumor of the vagina" ] ] [ fhir:code [ fhir:v "206492" ] ; fhir:display [ fhir:v "Vulvovaginal rhabdomyosarcoma" ] ] [ fhir:code [ fhir:v "2065" ] ; fhir:display [ fhir:v "Galloway-Mowat syndrome" ] ] [ fhir:code [ fhir:v "206538" ] ; fhir:display [ fhir:v "Malignant non-dysgerminomatous germ cell tumor of ovary" ] ] [ fhir:code [ fhir:v "206546" ] ; fhir:display [ fhir:v "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers" ] ] [ fhir:code [ fhir:v "206549" ] ; fhir:display [ fhir:v "Anoctamin-5-related limb-girdle muscular dystrophy R12" ] ] [ fhir:code [ fhir:v "206554" ] ; fhir:display [ fhir:v "Fukutin-related limb-girdle muscular dystrophy R13" ] ] [ fhir:code [ fhir:v "206559" ] ; fhir:display [ fhir:v "POMT2-related limb-girdle muscular dystrophy R14" ] ] [ fhir:code [ fhir:v "206564" ] ; fhir:display [ fhir:v "POMGNT1-related limb-girdle muscular dystrophy R15" ] ] [ fhir:code [ fhir:v "206569" ] ; fhir:display [ fhir:v "Immune-mediated necrotizing myopathy" ] ] [ fhir:code [ fhir:v "206572" ] ; fhir:display [ fhir:v "Overlap myositis" ] ] [ fhir:code [ fhir:v "206575" ] ; fhir:display [ fhir:v "Rippling muscle disease with myasthenia gravis" ] ] [ fhir:code [ fhir:v "206580" ] ; fhir:display [ fhir:v "Autosomal recessive lower motor neuron disease with childhood onset" ] ] [ fhir:code [ fhir:v "206583" ] ; fhir:display [ fhir:v "Adult polyglucosan body disease" ] ] [ fhir:code [ fhir:v "206586" ] ; fhir:display [ fhir:v "Neurolymphomatosis" ] ] [ fhir:code [ fhir:v "206594" ] ; fhir:display [ fhir:v "Subacute inflammatory demyelinating polyneuropathy" ] ] [ fhir:code [ fhir:v "206599" ] ; fhir:display [ fhir:v "Isolated asymptomatic elevation of creatine phosphokinase" ] ] [ fhir:code [ fhir:v "2066" ] ; fhir:display [ fhir:v "Gamma-aminobutyric acid transaminase deficiency" ] ] [ fhir:code [ fhir:v "2067" ] ; fhir:display [ fhir:v "GAPO syndrome" ] ] [ fhir:code [ fhir:v "2069" ] ; fhir:display [ fhir:v "Gastrocutaneous syndrome" ] ] [ fhir:code [ fhir:v "206991" ] ; fhir:display [ fhir:v "Viral myositis" ] ] [ fhir:code [ fhir:v "206994" ] ; fhir:display [ fhir:v "Bacterial myositis" ] ] [ fhir:code [ fhir:v "207" ] ; fhir:display [ fhir:v "Crouzon syndrome" ] ] [ fhir:code [ fhir:v "2070" ] ; fhir:display [ fhir:v "Eosinophilic gastroenteritis" ] ] [ fhir:code [ fhir:v "207000" ] ; fhir:display [ fhir:v "Fungal myositis" ] ] [ fhir:code [ fhir:v "2072" ] ; fhir:display [ fhir:v "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" ] ] [ fhir:code [ fhir:v "2073" ] ; fhir:display [ fhir:v "Narcolepsy type 1" ] ] [ fhir:code [ fhir:v "2074" ] ; fhir:display [ fhir:v "Gemignani syndrome" ] ] [ fhir:code [ fhir:v "2075" ] ; fhir:display [ fhir:v "Genitopalatocardiac syndrome" ] ] [ fhir:code [ fhir:v "2077" ] ; fhir:display [ fhir:v "German syndrome" ] ] [ fhir:code [ fhir:v "2078" ] ; fhir:display [ fhir:v "Geroderma osteodysplastica" ] ] [ fhir:code [ fhir:v "2083" ] ; fhir:display [ fhir:v "Prominent glabella-microcephaly-hypogenitalism syndrome" ] ] [ fhir:code [ fhir:v "2084" ] ; fhir:display [ fhir:v "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome" ] ] [ fhir:code [ fhir:v "208441" ] ; fhir:display [ fhir:v "Bilateral parasagittal parieto-occipital polymicrogyria" ] ] [ fhir:code [ fhir:v "208444" ] ; fhir:display [ fhir:v "Bilateral frontal polymicrogyria" ] ] [ fhir:code [ fhir:v "208447" ] ; fhir:display [ fhir:v "Bilateral generalized polymicrogyria" ] ] [ fhir:code [ fhir:v "2085" ] ; fhir:display [ fhir:v "Glaucoma-sleep apnea syndrome" ] ] [ fhir:code [ fhir:v "208513" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 29" ] ] [ fhir:code [ fhir:v "208524" ] ; fhir:display [ fhir:v "Herpetiform pemphigus" ] ] [ fhir:code [ fhir:v "2086" ] ; fhir:display [ fhir:v "Optic pathway glioma" ] ] [ fhir:code [ fhir:v "2088" ] ; fhir:display [ fhir:v "Fanconi-Bickel syndrome" ] ] [ fhir:code [ fhir:v "2089" ] ; fhir:display [ fhir:v "Glycogen storage disease due to hepatic glycogen synthase deficiency" ] ] [ fhir:code [ fhir:v "208989" ] ; fhir:display [ fhir:v "Non-paraneoplastic sensory ganglionopathy" ] ] [ fhir:code [ fhir:v "208999" ] ; fhir:display [ fhir:v "Paraneoplastic sensory ganglionopathy" ] ] [ fhir:code [ fhir:v "2090" ] ; fhir:display [ fhir:v "GMS syndrome" ] ] [ fhir:code [ fhir:v "209004" ] ; fhir:display [ fhir:v "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy" ] ] [ fhir:code [ fhir:v "2091" ] ; fhir:display [ fhir:v "Multinodular goiter-cystic kidney-polydactyly syndrome" ] ] [ fhir:code [ fhir:v "2092" ] ; fhir:display [ fhir:v "Focal dermal hypoplasia" ] ] [ fhir:code [ fhir:v "209335" ] ; fhir:display [ fhir:v "Autosomal dominant adult-onset proximal spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "209341" ] ; fhir:display [ fhir:v "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "209370" ] ; fhir:display [ fhir:v "Severe neonatal-onset encephalopathy with microcephaly" ] ] [ fhir:code [ fhir:v "2095" ] ; fhir:display [ fhir:v "Gorlin-Chaudhry-Moss syndrome" ] ] [ fhir:code [ fhir:v "2097" ] ; fhir:display [ fhir:v "Grant syndrome" ] ] [ fhir:code [ fhir:v "2098" ] ; fhir:display [ fhir:v "Acromesomelic dysplasia, Grebe type" ] ] [ fhir:code [ fhir:v "209867" ] ; fhir:display [ fhir:v "Autosomal dominant rhegmatogenous retinal detachment" ] ] [ fhir:code [ fhir:v "209902" ] ; fhir:display [ fhir:v "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" ] ] [ fhir:code [ fhir:v "209905" ] ; fhir:display [ fhir:v "Brain-lung-thyroid syndrome" ] ] [ fhir:code [ fhir:v "209908" ] ; fhir:display [ fhir:v "Isolated childhood apraxia of speech" ] ] [ fhir:code [ fhir:v "209916" ] ; fhir:display [ fhir:v "Extraskeletal myxoid chondrosarcoma" ] ] [ fhir:code [ fhir:v "209919" ] ; fhir:display [ fhir:v "Idiopathic copper-associated cirrhosis" ] ] [ fhir:code [ fhir:v "209932" ] ; fhir:display [ fhir:v "Cone dystrophy with supernormal rod response" ] ] [ fhir:code [ fhir:v "209943" ] ; fhir:display [ fhir:v "IRVAN syndrome" ] ] [ fhir:code [ fhir:v "209951" ] ; fhir:display [ fhir:v "Autosomal spastic paraplegia type 18" ] ] [ fhir:code [ fhir:v "209956" ] ; fhir:display [ fhir:v "Idiopathic uveal effusion syndrome" ] ] [ fhir:code [ fhir:v "209959" ] ; fhir:display [ fhir:v "Phacoanaphylactic uveitis" ] ] [ fhir:code [ fhir:v "209964" ] ; fhir:display [ fhir:v "Solitary rectal ulcer syndrome" ] ] [ fhir:code [ fhir:v "209967" ] ; fhir:display [ fhir:v "Episodic ataxia type 6" ] ] [ fhir:code [ fhir:v "209970" ] ; fhir:display [ fhir:v "Episodic ataxia type 7" ] ] [ fhir:code [ fhir:v "209973" ] ; fhir:display [ fhir:v "Benign nocturnal alternating hemiplegia of childhood" ] ] [ fhir:code [ fhir:v "209981" ] ; fhir:display [ fhir:v "IRIDA syndrome" ] ] [ fhir:code [ fhir:v "209989" ] ; fhir:display [ fhir:v "Non-papillary transitional cell carcinoma of the bladder" ] ] [ fhir:code [ fhir:v "210" ] ; fhir:display [ fhir:v "Cyclosporiasis" ] ] [ fhir:code [ fhir:v "2101" ] ; fhir:display [ fhir:v "Grubben-de Cock-Borghgraef syndrome" ] ] [ fhir:code [ fhir:v "210110" ] ; fhir:display [ fhir:v "Intermediate osteopetrosis" ] ] [ fhir:code [ fhir:v "210115" ] ; fhir:display [ fhir:v "Sterile multifocal osteomyelitis with periostitis and pustulosis" ] ] [ fhir:code [ fhir:v "210122" ] ; fhir:display [ fhir:v "Congenital alveolar capillary dysplasia" ] ] [ fhir:code [ fhir:v "210128" ] ; fhir:display [ fhir:v "Urocanic aciduria" ] ] [ fhir:code [ fhir:v "210133" ] ; fhir:display [ fhir:v "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome" ] ] [ fhir:code [ fhir:v "210136" ] ; fhir:display [ fhir:v "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "210141" ] ; fhir:display [ fhir:v "Inherited congenital spastic tetraplegia" ] ] [ fhir:code [ fhir:v "210144" ] ; fhir:display [ fhir:v "Lethal polymalformative syndrome, Boissel type" ] ] [ fhir:code [ fhir:v "210159" ] ; fhir:display [ fhir:v "Adult hepatocellular carcinoma" ] ] [ fhir:code [ fhir:v "210163" ] ; fhir:display [ fhir:v "Congenital lethal myopathy, Compton-North type" ] ] [ fhir:code [ fhir:v "2102" ] ; fhir:display [ fhir:v "GTP cyclohydrolase I deficiency" ] ] [ fhir:code [ fhir:v "210272" ] ; fhir:display [ fhir:v "Mal de débarquement" ] ] [ fhir:code [ fhir:v "2104" ] ; fhir:display [ fhir:v "Dysmorphism-pectus carinatum-joint laxity syndrome" ] ] [ fhir:code [ fhir:v "210548" ] ; fhir:display [ fhir:v "Macrocephaly-intellectual disability-autism syndrome" ] ] [ fhir:code [ fhir:v "210571" ] ; fhir:display [ fhir:v "Dystonia 16" ] ] [ fhir:code [ fhir:v "210576" ] ; fhir:display [ fhir:v "Congenital temporomandibular joint ankylosis" ] ] [ fhir:code [ fhir:v "210584" ] ; fhir:display [ fhir:v "Spindle cell hemangioma" ] ] [ fhir:code [ fhir:v "2107" ] ; fhir:display [ fhir:v "Hall-Riggs syndrome" ] ] [ fhir:code [ fhir:v "2108" ] ; fhir:display [ fhir:v "Hallermann-Streiff syndrome" ] ] [ fhir:code [ fhir:v "2109" ] ; fhir:display [ fhir:v "Hallermann-Streiff-like syndrome" ] ] [ fhir:code [ fhir:v "211" ] ; fhir:display [ fhir:v "Familial cylindromatosis" ] ] [ fhir:code [ fhir:v "2110" ] ; fhir:display [ fhir:v "Hallux varus-preaxial polysyndactyly syndrome" ] ] [ fhir:code [ fhir:v "211017" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 30" ] ] [ fhir:code [ fhir:v "211067" ] ; fhir:display [ fhir:v "Episodic ataxia type 5" ] ] [ fhir:code [ fhir:v "2111" ] ; fhir:display [ fhir:v "Cystic hamartoma of lung and kidney" ] ] [ fhir:code [ fhir:v "2114" ] ; fhir:display [ fhir:v "Hip dysplasia, Beukes type" ] ] [ fhir:code [ fhir:v "2115" ] ; fhir:display [ fhir:v "Harrod syndrome" ] ] [ fhir:code [ fhir:v "2116" ] ; fhir:display [ fhir:v "Hartnup disease" ] ] [ fhir:code [ fhir:v "2117" ] ; fhir:display [ fhir:v "Hartsfield syndrome" ] ] [ fhir:code [ fhir:v "2118" ] ; fhir:display [ fhir:v "Hawkinsinuria" ] ] [ fhir:code [ fhir:v "2119" ] ; fhir:display [ fhir:v "HEC syndrome" ] ] [ fhir:code [ fhir:v "212" ] ; fhir:display [ fhir:v "Cystathioninuria" ] ] [ fhir:code [ fhir:v "2122" ] ; fhir:display [ fhir:v "Kaposiform hemangioendothelioma" ] ] [ fhir:code [ fhir:v "2123" ] ; fhir:display [ fhir:v "Diffuse neonatal hemangiomatosis" ] ] [ fhir:code [ fhir:v "2126" ] ; fhir:display [ fhir:v "Solitary fibrous tumor" ] ] [ fhir:code [ fhir:v "2128" ] ; fhir:display [ fhir:v "Isolated hemihyperplasia" ] ] [ fhir:code [ fhir:v "213" ] ; fhir:display [ fhir:v "Cystinosis" ] ] [ fhir:code [ fhir:v "2131" ] ; fhir:display [ fhir:v "Alternating hemiplegia of childhood" ] ] [ fhir:code [ fhir:v "2132" ] ; fhir:display [ fhir:v "Hemoglobin C disease" ] ] [ fhir:code [ fhir:v "2133" ] ; fhir:display [ fhir:v "Hemoglobin E disease" ] ] [ fhir:code [ fhir:v "2134" ] ; fhir:display [ fhir:v "Atypical hemolytic uremic syndrome" ] ] [ fhir:code [ fhir:v "2135" ] ; fhir:display [ fhir:v "Hennekam-Beemer syndrome" ] ] [ fhir:code [ fhir:v "213504" ] ; fhir:display [ fhir:v "Adenocarcinoma of ovary" ] ] [ fhir:code [ fhir:v "213512" ] ; fhir:display [ fhir:v "Malignant mixed Müllerian tumor of the ovary" ] ] [ fhir:code [ fhir:v "213528" ] ; fhir:display [ fhir:v "Rare adenocarcinoma of the breast" ] ] [ fhir:code [ fhir:v "213531" ] ; fhir:display [ fhir:v "Metaplastic carcinoma of the breast" ] ] [ fhir:code [ fhir:v "213557" ] ; fhir:display [ fhir:v "Salivary gland type cancer of the breast" ] ] [ fhir:code [ fhir:v "2136" ] ; fhir:display [ fhir:v "Hennekam syndrome" ] ] [ fhir:code [ fhir:v "213600" ] ; fhir:display [ fhir:v "Adenosarcoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213605" ] ; fhir:display [ fhir:v "Carcinofibroma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213610" ] ; fhir:display [ fhir:v "Carcinosarcoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213615" ] ; fhir:display [ fhir:v "Rhabdomyosarcoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213625" ] ; fhir:display [ fhir:v "Leiomyosarcoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213630" ] ; fhir:display [ fhir:v "Primitive neuroectodermal tumor of the corpus uteri" ] ] [ fhir:code [ fhir:v "2137" ] ; fhir:display [ fhir:v "Autoimmune hepatitis" ] ] [ fhir:code [ fhir:v "213711" ] ; fhir:display [ fhir:v "Endometrial stromal sarcoma" ] ] [ fhir:code [ fhir:v "213716" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213721" ] ; fhir:display [ fhir:v "Undifferentiated carcinoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213726" ] ; fhir:display [ fhir:v "Serous carcinoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213731" ] ; fhir:display [ fhir:v "High-grade neuroendocrine carcinoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213736" ] ; fhir:display [ fhir:v "Low-grade neuroendocrine tumor of the corpus uteri" ] ] [ fhir:code [ fhir:v "213746" ] ; fhir:display [ fhir:v "Transitional cell carcinoma of the corpus uteri" ] ] [ fhir:code [ fhir:v "213751" ] ; fhir:display [ fhir:v "Malignant germ cell tumor of the corpus uteri" ] ] [ fhir:code [ fhir:v "213767" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213772" ] ; fhir:display [ fhir:v "Adenocarcinoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213777" ] ; fhir:display [ fhir:v "High-grade neuroendocrine carcinoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213787" ] ; fhir:display [ fhir:v "Carcinosarcoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213792" ] ; fhir:display [ fhir:v "Adenosarcoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "2138" ] ; fhir:display [ fhir:v "46,XX ovotesticular difference of sex development" ] ] [ fhir:code [ fhir:v "213802" ] ; fhir:display [ fhir:v "Rhabdomyosarcoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213807" ] ; fhir:display [ fhir:v "Leiomyosarcoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213812" ] ; fhir:display [ fhir:v "Primitive neuroectodermal tumor of the cervix uteri" ] ] [ fhir:code [ fhir:v "213823" ] ; fhir:display [ fhir:v "Adenoid cystic carcinoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213828" ] ; fhir:display [ fhir:v "Adenoid basal carcinoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213833" ] ; fhir:display [ fhir:v "Glassy cell carcinoma of the cervix uteri" ] ] [ fhir:code [ fhir:v "213837" ] ; fhir:display [ fhir:v "Malignant germ cell tumor of the cervix uteri" ] ] [ fhir:code [ fhir:v "2139" ] ; fhir:display [ fhir:v "Hernández-Aguirre Negrete syndrome" ] ] [ fhir:code [ fhir:v "214" ] ; fhir:display [ fhir:v "Cystinuria" ] ] [ fhir:code [ fhir:v "2140" ] ; fhir:display [ fhir:v "Congenital diaphragmatic hernia" ] ] [ fhir:code [ fhir:v "2141" ] ; fhir:display [ fhir:v "Diaphragmatic defect-limb deficiency-skull defect syndrome" ] ] [ fhir:code [ fhir:v "2143" ] ; fhir:display [ fhir:v "Donnai-Barrow syndrome" ] ] [ fhir:code [ fhir:v "2145" ] ; fhir:display [ fhir:v "Craniosynostosis, Herrmann-Opitz type" ] ] [ fhir:code [ fhir:v "2148" ] ; fhir:display [ fhir:v "Lissencephaly type 1 due to doublecortin gene mutation" ] ] [ fhir:code [ fhir:v "2149" ] ; fhir:display [ fhir:v "Nodular neuronal heterotopia" ] ] [ fhir:code [ fhir:v "215" ] ; fhir:display [ fhir:v "Congenital stationary night blindness" ] ] [ fhir:code [ fhir:v "2150" ] ; fhir:display [ fhir:v "Hirschsprung disease-type D brachydactyly syndrome" ] ] [ fhir:code [ fhir:v "2151" ] ; fhir:display [ fhir:v "Hirschsprung disease-ganglioneuroblastoma syndrome" ] ] [ fhir:code [ fhir:v "2152" ] ; fhir:display [ fhir:v "Mowat-Wilson syndrome" ] ] [ fhir:code [ fhir:v "2153" ] ; fhir:display [ fhir:v "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "2155" ] ; fhir:display [ fhir:v "Hirschsprung disease-deafness-polydactyly syndrome" ] ] [ fhir:code [ fhir:v "2157" ] ; fhir:display [ fhir:v "Histidinemia" ] ] [ fhir:code [ fhir:v "2158" ] ; fhir:display [ fhir:v "Histidinuria-renal tubular defect syndrome" ] ] [ fhir:code [ fhir:v "2162" ] ; fhir:display [ fhir:v "Holoprosencephaly" ] ] [ fhir:code [ fhir:v "2163" ] ; fhir:display [ fhir:v "Holoprosencephaly-craniosynostosis syndrome" ] ] [ fhir:code [ fhir:v "2165" ] ; fhir:display [ fhir:v "Holoprosencephaly-caudal dysgenesis syndrome" ] ] [ fhir:code [ fhir:v "2166" ] ; fhir:display [ fhir:v "Holoprosencephaly-postaxial polydactyly syndrome" ] ] [ fhir:code [ fhir:v "216694" ] ; fhir:display [ fhir:v "Congenitally corrected transposition of the great arteries" ] ] [ fhir:code [ fhir:v "2167" ] ; fhir:display [ fhir:v "Holzgreve syndrome" ] ] [ fhir:code [ fhir:v "216718" ] ; fhir:display [ fhir:v "Isolated congenitally uncorrected transposition of the great arteries" ] ] [ fhir:code [ fhir:v "216729" ] ; fhir:display [ fhir:v "Congenitally uncorrected transposition of the great arteries with cardiac malformation" ] ] [ fhir:code [ fhir:v "216796" ] ; fhir:display [ fhir:v "Osteogenesis imperfecta type 1" ] ] [ fhir:code [ fhir:v "216804" ] ; fhir:display [ fhir:v "Osteogenesis imperfecta type 2" ] ] [ fhir:code [ fhir:v "216812" ] ; fhir:display [ fhir:v "Osteogenesis imperfecta type 3" ] ] [ fhir:code [ fhir:v "216820" ] ; fhir:display [ fhir:v "Osteogenesis imperfecta type 4" ] ] [ fhir:code [ fhir:v "216828" ] ; fhir:display [ fhir:v "Osteogenesis imperfecta type 5" ] ] [ fhir:code [ fhir:v "216866" ] ; fhir:display [ fhir:v "Classic pantothenate kinase-associated neurodegeneration" ] ] [ fhir:code [ fhir:v "216873" ] ; fhir:display [ fhir:v "Atypical pantothenate kinase-associated neurodegeneration" ] ] [ fhir:code [ fhir:v "2169" ] ; fhir:display [ fhir:v "Methylcobalamin deficiency type cblE" ] ] [ fhir:code [ fhir:v "216972" ] ; fhir:display [ fhir:v "Niemann-Pick disease type C, severe perinatal form" ] ] [ fhir:code [ fhir:v "216975" ] ; fhir:display [ fhir:v "Niemann-Pick disease type C, severe early infantile neurologic onset" ] ] [ fhir:code [ fhir:v "216978" ] ; fhir:display [ fhir:v "Niemann-Pick disease type C, late infantile neurologic onset" ] ] [ fhir:code [ fhir:v "216981" ] ; fhir:display [ fhir:v "Niemann-Pick disease type C, juvenile neurologic onset" ] ] [ fhir:code [ fhir:v "216986" ] ; fhir:display [ fhir:v "Niemann-Pick disease type C, adult neurologic onset" ] ] [ fhir:code [ fhir:v "217" ] ; fhir:display [ fhir:v "Isolated Dandy-Walker malformation" ] ] [ fhir:code [ fhir:v "2170" ] ; fhir:display [ fhir:v "Methylcobalamin deficiency type cblG" ] ] [ fhir:code [ fhir:v "217008" ] ; fhir:display [ fhir:v "Bockenheimer syndrome" ] ] [ fhir:code [ fhir:v "217012" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 31" ] ] [ fhir:code [ fhir:v "217017" ] ; fhir:display [ fhir:v "Zechi-Ceide syndrome" ] ] [ fhir:code [ fhir:v "217026" ] ; fhir:display [ fhir:v "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type" ] ] [ fhir:code [ fhir:v "217055" ] ; fhir:display [ fhir:v "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A" ] ] [ fhir:code [ fhir:v "217059" ] ; fhir:display [ fhir:v "Isolated congenital digital clubbing" ] ] [ fhir:code [ fhir:v "217064" ] ; fhir:display [ fhir:v "5-fluorouracil poisoning" ] ] [ fhir:code [ fhir:v "217067" ] ; fhir:display [ fhir:v "Pouchitis" ] ] [ fhir:code [ fhir:v "217080" ] ; fhir:display [ fhir:v "Pulmonary fungal infections in patients deemed at risk" ] ] [ fhir:code [ fhir:v "217085" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 2, severe form" ] ] [ fhir:code [ fhir:v "217093" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 2, attenuated form" ] ] [ fhir:code [ fhir:v "2172" ] ; fhir:display [ fhir:v "Microcephaly-glomerulonephritis-marfanoid habitus syndrome" ] ] [ fhir:code [ fhir:v "217253" ] ; fhir:display [ fhir:v "NMDA receptor encephalitis" ] ] [ fhir:code [ fhir:v "217260" ] ; fhir:display [ fhir:v "Progressive multifocal leukoencephalopathy" ] ] [ fhir:code [ fhir:v "217266" ] ; fhir:display [ fhir:v "BNAR syndrome" ] ] [ fhir:code [ fhir:v "217330" ] ; fhir:display [ fhir:v "REN-related autosomal dominant tubulointerstitial kidney disease" ] ] [ fhir:code [ fhir:v "217335" ] ; fhir:display [ fhir:v "RIN2 syndrome" ] ] [ fhir:code [ fhir:v "217340" ] ; fhir:display [ fhir:v "17q21.31 microduplication syndrome" ] ] [ fhir:code [ fhir:v "217346" ] ; fhir:display [ fhir:v "19q13.11 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "217371" ] ; fhir:display [ fhir:v "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" ] ] [ fhir:code [ fhir:v "217377" ] ; fhir:display [ fhir:v "Microduplication Xp11.22p11.23 syndrome" ] ] [ fhir:code [ fhir:v "217382" ] ; fhir:display [ fhir:v "Neurodegenerative syndrome due to cerebral folate transport deficiency" ] ] [ fhir:code [ fhir:v "217385" ] ; fhir:display [ fhir:v "17p13.3 microduplication syndrome" ] ] [ fhir:code [ fhir:v "217390" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to DOCK8 deficiency" ] ] [ fhir:code [ fhir:v "217396" ] ; fhir:display [ fhir:v "Progressive polyneuropathy with bilateral striatal necrosis" ] ] [ fhir:code [ fhir:v "217399" ] ; fhir:display [ fhir:v "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation" ] ] [ fhir:code [ fhir:v "217407" ] ; fhir:display [ fhir:v "Hereditary hypotrichosis with recurrent skin vesicles" ] ] [ fhir:code [ fhir:v "217467" ] ; fhir:display [ fhir:v "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" ] ] [ fhir:code [ fhir:v "217557" ] ; fhir:display [ fhir:v "Pulmonary interstitial glycogenosis" ] ] [ fhir:code [ fhir:v "217560" ] ; fhir:display [ fhir:v "Neuroendocrine cell hyperplasia of infancy" ] ] [ fhir:code [ fhir:v "217563" ] ; fhir:display [ fhir:v "Neonatal acute respiratory distress due to SP-B deficiency" ] ] [ fhir:code [ fhir:v "217566" ] ; fhir:display [ fhir:v "Chronic respiratory distress with surfactant metabolism deficiency" ] ] [ fhir:code [ fhir:v "2176" ] ; fhir:display [ fhir:v "Infantile systemic hyalinosis" ] ] [ fhir:code [ fhir:v "217622" ] ; fhir:display [ fhir:v "Sensorineural deafness with dilated cardiomyopathy" ] ] [ fhir:code [ fhir:v "217656" ] ; fhir:display [ fhir:v "Familial isolated arrhythmogenic right ventricular dysplasia" ] ] [ fhir:code [ fhir:v "2177" ] ; fhir:display [ fhir:v "Hydranencephaly" ] ] [ fhir:code [ fhir:v "218" ] ; fhir:display [ fhir:v "Darier disease" ] ] [ fhir:code [ fhir:v "2180" ] ; fhir:display [ fhir:v "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome" ] ] [ fhir:code [ fhir:v "2181" ] ; fhir:display [ fhir:v "Hydrocephaly-tall stature-joint laxity syndrome" ] ] [ fhir:code [ fhir:v "2182" ] ; fhir:display [ fhir:v "Hydrocephalus with stenosis of the aqueduct of Sylvius" ] ] [ fhir:code [ fhir:v "2183" ] ; fhir:display [ fhir:v "Hydrocephalus-obesity-hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "2184" ] ; fhir:display [ fhir:v "Hydrocephaly-low insertion umbilicus syndrome" ] ] [ fhir:code [ fhir:v "2185" ] ; fhir:display [ fhir:v "Congenital hydrocephalus" ] ] [ fhir:code [ fhir:v "2186" ] ; fhir:display [ fhir:v "Hydrocephalus-blue sclerae-nephropathy syndrome" ] ] [ fhir:code [ fhir:v "2189" ] ; fhir:display [ fhir:v "Hydrolethalus" ] ] [ fhir:code [ fhir:v "219" ] ; fhir:display [ fhir:v "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6" ] ] [ fhir:code [ fhir:v "2194" ] ; fhir:display [ fhir:v "Anti-HLA hyperimmunization" ] ] [ fhir:code [ fhir:v "2195" ] ; fhir:display [ fhir:v "Dicarboxylic aminoaciduria" ] ] [ fhir:code [ fhir:v "2196" ] ; fhir:display [ fhir:v "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" ] ] [ fhir:code [ fhir:v "2197" ] ; fhir:display [ fhir:v "Idiopathic hypercalciuria" ] ] [ fhir:code [ fhir:v "2198" ] ; fhir:display [ fhir:v "Palmoplantar keratoderma-esophageal carcinoma syndrome" ] ] [ fhir:code [ fhir:v "2199" ] ; fhir:display [ fhir:v "Epidermolytic palmoplantar keratoderma" ] ] [ fhir:code [ fhir:v "22" ] ; fhir:display [ fhir:v "Succinic semialdehyde dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "220" ] ; fhir:display [ fhir:v "Denys-Drash syndrome" ] ] [ fhir:code [ fhir:v "2200" ] ; fhir:display [ fhir:v "Focal palmoplantar and gingival keratoderma" ] ] [ fhir:code [ fhir:v "2201" ] ; fhir:display [ fhir:v "Palmoplantar keratoderma-spastic paralysis syndrome" ] ] [ fhir:code [ fhir:v "2202" ] ; fhir:display [ fhir:v "Palmoplantar keratoderma-deafness syndrome" ] ] [ fhir:code [ fhir:v "220295" ] ; fhir:display [ fhir:v "Xeroderma pigmentosum-Cockayne syndrome complex" ] ] [ fhir:code [ fhir:v "2203" ] ; fhir:display [ fhir:v "Hyperlysinemia" ] ] [ fhir:code [ fhir:v "220386" ] ; fhir:display [ fhir:v "Semilobar holoprosencephaly" ] ] [ fhir:code [ fhir:v "220393" ] ; fhir:display [ fhir:v "Diffuse cutaneous systemic sclerosis" ] ] [ fhir:code [ fhir:v "2204" ] ; fhir:display [ fhir:v "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type" ] ] [ fhir:code [ fhir:v "220402" ] ; fhir:display [ fhir:v "Limited cutaneous systemic sclerosis" ] ] [ fhir:code [ fhir:v "220407" ] ; fhir:display [ fhir:v "Limited systemic sclerosis" ] ] [ fhir:code [ fhir:v "220436" ] ; fhir:display [ fhir:v "Quebec platelet disorder" ] ] [ fhir:code [ fhir:v "220443" ] ; fhir:display [ fhir:v "Bleeding diathesis due to thromboxane synthesis deficiency" ] ] [ fhir:code [ fhir:v "220448" ] ; fhir:display [ fhir:v "Macrothrombocytopenia with mitral valve insufficiency" ] ] [ fhir:code [ fhir:v "220460" ] ; fhir:display [ fhir:v "Attenuated familial adenomatous polyposis" ] ] [ fhir:code [ fhir:v "220465" ] ; fhir:display [ fhir:v "Laron syndrome with immunodeficiency" ] ] [ fhir:code [ fhir:v "220493" ] ; fhir:display [ fhir:v "Joubert syndrome with ocular defect" ] ] [ fhir:code [ fhir:v "220497" ] ; fhir:display [ fhir:v "Joubert syndrome with renal defect" ] ] [ fhir:code [ fhir:v "2206" ] ; fhir:display [ fhir:v "Ankylosing vertebral hyperostosis with tylosis" ] ] [ fhir:code [ fhir:v "2209" ] ; fhir:display [ fhir:v "Maternal phenylketonuria" ] ] [ fhir:code [ fhir:v "221" ] ; fhir:display [ fhir:v "Dermatomyositis" ] ] [ fhir:code [ fhir:v "221008" ] ; fhir:display [ fhir:v "Rothmund-Thomson syndrome type 1" ] ] [ fhir:code [ fhir:v "221016" ] ; fhir:display [ fhir:v "Rothmund-Thomson syndrome type 2" ] ] [ fhir:code [ fhir:v "221039" ] ; fhir:display [ fhir:v "Hereditary sclerosing poikiloderma, Weary type" ] ] [ fhir:code [ fhir:v "221043" ] ; fhir:display [ fhir:v "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" ] ] [ fhir:code [ fhir:v "221046" ] ; fhir:display [ fhir:v "Poikiloderma with neutropenia" ] ] [ fhir:code [ fhir:v "221054" ] ; fhir:display [ fhir:v "Acrocephalopolydactyly" ] ] [ fhir:code [ fhir:v "221061" ] ; fhir:display [ fhir:v "Familial cerebral cavernous malformation" ] ] [ fhir:code [ fhir:v "221074" ] ; fhir:display [ fhir:v "Marchiafava-Bignami disease" ] ] [ fhir:code [ fhir:v "221078" ] ; fhir:display [ fhir:v "Combined hyperactive dysfunction syndrome of the cranial nerves" ] ] [ fhir:code [ fhir:v "221083" ] ; fhir:display [ fhir:v "Hemifacial spasm" ] ] [ fhir:code [ fhir:v "221091" ] ; fhir:display [ fhir:v "Trigeminal neuralgia" ] ] [ fhir:code [ fhir:v "221098" ] ; fhir:display [ fhir:v "Glossopharyngeal neuralgia" ] ] [ fhir:code [ fhir:v "2211" ] ; fhir:display [ fhir:v "Hypertelorism-hypospadias-polysyndactyly syndrome" ] ] [ fhir:code [ fhir:v "221117" ] ; fhir:display [ fhir:v "Gerstmann syndrome" ] ] [ fhir:code [ fhir:v "221120" ] ; fhir:display [ fhir:v "Pseudoaminopterin syndrome" ] ] [ fhir:code [ fhir:v "221126" ] ; fhir:display [ fhir:v "Fowler vasculopathy" ] ] [ fhir:code [ fhir:v "221139" ] ; fhir:display [ fhir:v "Combined immunodeficiency with facio-oculo-skeletal anomalies" ] ] [ fhir:code [ fhir:v "221142" ] ; fhir:display [ fhir:v "Confetti-like macular atrophy" ] ] [ fhir:code [ fhir:v "221145" ] ; fhir:display [ fhir:v "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies" ] ] [ fhir:code [ fhir:v "2213" ] ; fhir:display [ fhir:v "Hypertelorism-microtia-facial clefting syndrome" ] ] [ fhir:code [ fhir:v "2215" ] ; fhir:display [ fhir:v "Multiple pterygium-malignant hyperthermia syndrome" ] ] [ fhir:code [ fhir:v "2216" ] ; fhir:display [ fhir:v "Maternal hyperthermia-induced birth defects" ] ] [ fhir:code [ fhir:v "2218" ] ; fhir:display [ fhir:v "Cervical hypertrichosis-peripheral neuropathy syndrome" ] ] [ fhir:code [ fhir:v "222" ] ; fhir:display [ fhir:v "Erosive pustular dermatosis of the scalp" ] ] [ fhir:code [ fhir:v "2220" ] ; fhir:display [ fhir:v "Hypertrichosis cubiti" ] ] [ fhir:code [ fhir:v "2221" ] ; fhir:display [ fhir:v "Acquired hypertrichosis lanuginosa" ] ] [ fhir:code [ fhir:v "2222" ] ; fhir:display [ fhir:v "Hypertrichosis lanuginosa congenita" ] ] [ fhir:code [ fhir:v "2224" ] ; fhir:display [ fhir:v "Hypertryptophanemia" ] ] [ fhir:code [ fhir:v "2228" ] ; fhir:display [ fhir:v "Hypodontia-dysplasia of nails syndrome" ] ] [ fhir:code [ fhir:v "2229" ] ; fhir:display [ fhir:v "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "223" ] ; fhir:display [ fhir:v "Nephrogenic diabetes insipidus" ] ] [ fhir:code [ fhir:v "2230" ] ; fhir:display [ fhir:v "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" ] ] [ fhir:code [ fhir:v "2232" ] ; fhir:display [ fhir:v "Primary hypergonadotropic hypogonadism-partial alopecia syndrome" ] ] [ fhir:code [ fhir:v "2233" ] ; fhir:display [ fhir:v "Hypogonadism-mitral valve prolapse-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2234" ] ; fhir:display [ fhir:v "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "2235" ] ; fhir:display [ fhir:v "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" ] ] [ fhir:code [ fhir:v "2237" ] ; fhir:display [ fhir:v "Hypoparathyroidism-sensorineural deafness-renal disease syndrome" ] ] [ fhir:code [ fhir:v "2238" ] ; fhir:display [ fhir:v "Familial isolated hypoparathyroidism" ] ] [ fhir:code [ fhir:v "2239" ] ; fhir:display [ fhir:v "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland" ] ] [ fhir:code [ fhir:v "2241" ] ; fhir:display [ fhir:v "Megacystis-microcolon-intestinal hypoperistalsis syndrome" ] ] [ fhir:code [ fhir:v "2246" ] ; fhir:display [ fhir:v "Cerebellar hypoplasia-tapetoretinal degeneration syndrome" ] ] [ fhir:code [ fhir:v "2248" ] ; fhir:display [ fhir:v "Hypoplastic left heart syndrome" ] ] [ fhir:code [ fhir:v "2249" ] ; fhir:display [ fhir:v "Ulna hypoplasia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "225" ] ; fhir:display [ fhir:v "Maternally-inherited diabetes and deafness" ] ] [ fhir:code [ fhir:v "2250" ] ; fhir:display [ fhir:v "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "2251" ] ; fhir:display [ fhir:v "Thumb deformity-alopecia-pigmentation anomaly syndrome" ] ] [ fhir:code [ fhir:v "225123" ] ; fhir:display [ fhir:v "TFR2-related hemochromatosis" ] ] [ fhir:code [ fhir:v "225147" ] ; fhir:display [ fhir:v "Sporadic infantile bilateral striatal necrosis" ] ] [ fhir:code [ fhir:v "225154" ] ; fhir:display [ fhir:v "Familial infantile bilateral striatal necrosis" ] ] [ fhir:code [ fhir:v "2252" ] ; fhir:display [ fhir:v "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome" ] ] [ fhir:code [ fhir:v "2253" ] ; fhir:display [ fhir:v "Foveal hypoplasia-presenile cataract syndrome" ] ] [ fhir:code [ fhir:v "2254" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 1" ] ] [ fhir:code [ fhir:v "2255" ] ; fhir:display [ fhir:v "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome" ] ] [ fhir:code [ fhir:v "2256" ] ; fhir:display [ fhir:v "Fibulo-ulnar hypoplasia-renal anomalies syndrome" ] ] [ fhir:code [ fhir:v "2257" ] ; fhir:display [ fhir:v "Primary pulmonary hypoplasia" ] ] [ fhir:code [ fhir:v "226" ] ; fhir:display [ fhir:v "Dihydropteridine reductase deficiency" ] ] [ fhir:code [ fhir:v "2260" ] ; fhir:display [ fhir:v "Oligomeganephronia" ] ] [ fhir:code [ fhir:v "2261" ] ; fhir:display [ fhir:v "Hypospadias-intellectual disability, Goldblatt type syndrome" ] ] [ fhir:code [ fhir:v "226307" ] ; fhir:display [ fhir:v "Hypothyroidism due to deficient transcription factors involved in pituitary development or function" ] ] [ fhir:code [ fhir:v "226313" ] ; fhir:display [ fhir:v "Congenital hypothyroidism due to maternal intake of antithyroid drugs" ] ] [ fhir:code [ fhir:v "226316" ] ; fhir:display [ fhir:v "Genetic transient congenital hypothyroidism" ] ] [ fhir:code [ fhir:v "2266" ] ; fhir:display [ fhir:v "Hypotrichosis-intellectual disability, Lopes type" ] ] [ fhir:code [ fhir:v "2268" ] ; fhir:display [ fhir:v "ICF syndrome" ] ] [ fhir:code [ fhir:v "2269" ] ; fhir:display [ fhir:v "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "227" ] ; fhir:display [ fhir:v "Diphallia" ] ] [ fhir:code [ fhir:v "2271" ] ; fhir:display [ fhir:v "Congenital ichthyosis-microcephalus-tetraplegia syndrome" ] ] [ fhir:code [ fhir:v "2272" ] ; fhir:display [ fhir:v "Ichthyosis-oral and digital anomalies syndrome" ] ] [ fhir:code [ fhir:v "2273" ] ; fhir:display [ fhir:v "Ichthyosis follicularis-alopecia-photophobia syndrome" ] ] [ fhir:code [ fhir:v "2274" ] ; fhir:display [ fhir:v "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome" ] ] [ fhir:code [ fhir:v "227510" ] ; fhir:display [ fhir:v "Multiple system atrophy, cerebellar type" ] ] [ fhir:code [ fhir:v "227535" ] ; fhir:display [ fhir:v "Hereditary breast cancer" ] ] [ fhir:code [ fhir:v "227796" ] ; fhir:display [ fhir:v "Fundus albipunctatus" ] ] [ fhir:code [ fhir:v "2278" ] ; fhir:display [ fhir:v "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" ] ] [ fhir:code [ fhir:v "227972" ] ; fhir:display [ fhir:v "Toxic oil syndrome" ] ] [ fhir:code [ fhir:v "227976" ] ; fhir:display [ fhir:v "Autosomal recessive optic atrophy, OPA7 type" ] ] [ fhir:code [ fhir:v "227982" ] ; fhir:display [ fhir:v "Autoimmune polyendocrinopathy type 3" ] ] [ fhir:code [ fhir:v "227990" ] ; fhir:display [ fhir:v "Autoimmune polyendocrinopathy type 4" ] ] [ fhir:code [ fhir:v "228000" ] ; fhir:display [ fhir:v "Idiopathic CD4 lymphocytopenia" ] ] [ fhir:code [ fhir:v "228003" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to CORO1A deficiency" ] ] [ fhir:code [ fhir:v "228012" ] ; fhir:display [ fhir:v "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome" ] ] [ fhir:code [ fhir:v "228113" ] ; fhir:display [ fhir:v "Anal fistula" ] ] [ fhir:code [ fhir:v "228116" ] ; fhir:display [ fhir:v "Hughes-Stovin syndrome" ] ] [ fhir:code [ fhir:v "228119" ] ; fhir:display [ fhir:v "Fusariosis" ] ] [ fhir:code [ fhir:v "228123" ] ; fhir:display [ fhir:v "Coccidioidomycosis" ] ] [ fhir:code [ fhir:v "228140" ] ; fhir:display [ fhir:v "Idiopathic ventricular fibrillation, non Brugada type" ] ] [ fhir:code [ fhir:v "228157" ] ; fhir:display [ fhir:v "Marburg acute multiple sclerosis" ] ] [ fhir:code [ fhir:v "228165" ] ; fhir:display [ fhir:v "Baló concentric sclerosis" ] ] [ fhir:code [ fhir:v "228169" ] ; fhir:display [ fhir:v "Autosomal dominant striatal neurodegeneration" ] ] [ fhir:code [ fhir:v "228174" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2N" ] ] [ fhir:code [ fhir:v "228179" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2M" ] ] [ fhir:code [ fhir:v "228190" ] ; fhir:display [ fhir:v "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome" ] ] [ fhir:code [ fhir:v "2282" ] ; fhir:display [ fhir:v "Dysmorphism-short stature-deafness-difference of sex development syndrome" ] ] [ fhir:code [ fhir:v "228227" ] ; fhir:display [ fhir:v "Late-onset focal dermal elastosis" ] ] [ fhir:code [ fhir:v "228236" ] ; fhir:display [ fhir:v "Linear focal elastosis" ] ] [ fhir:code [ fhir:v "228240" ] ; fhir:display [ fhir:v "Elastoderma" ] ] [ fhir:code [ fhir:v "228243" ] ; fhir:display [ fhir:v "Elastofibroma dorsi" ] ] [ fhir:code [ fhir:v "228247" ] ; fhir:display [ fhir:v "Acquired pseudoxanthoma elasticum" ] ] [ fhir:code [ fhir:v "228254" ] ; fhir:display [ fhir:v "Elastoma" ] ] [ fhir:code [ fhir:v "228264" ] ; fhir:display [ fhir:v "Papular elastorrhexis" ] ] [ fhir:code [ fhir:v "228272" ] ; fhir:display [ fhir:v "Primary anetoderma" ] ] [ fhir:code [ fhir:v "228277" ] ; fhir:display [ fhir:v "Familial anetoderma" ] ] [ fhir:code [ fhir:v "228285" ] ; fhir:display [ fhir:v "Acquired cutis laxa" ] ] [ fhir:code [ fhir:v "228290" ] ; fhir:display [ fhir:v "White fibrous papulosis of the neck" ] ] [ fhir:code [ fhir:v "228293" ] ; fhir:display [ fhir:v "Pseudoxanthoma elasticum-like papillary dermal elastolysis" ] ] [ fhir:code [ fhir:v "228299" ] ; fhir:display [ fhir:v "Mid-dermal elastolysis" ] ] [ fhir:code [ fhir:v "228302" ] ; fhir:display [ fhir:v "Carnitine palmitoyl transferase II deficiency, myopathic form" ] ] [ fhir:code [ fhir:v "228305" ] ; fhir:display [ fhir:v "Carnitine palmitoyl transferase II deficiency, severe infantile form" ] ] [ fhir:code [ fhir:v "228308" ] ; fhir:display [ fhir:v "Carnitine palmitoyl transferase II deficiency, neonatal form" ] ] [ fhir:code [ fhir:v "228329" ] ; fhir:display [ fhir:v "CLN1 disease" ] ] [ fhir:code [ fhir:v "228337" ] ; fhir:display [ fhir:v "CLN10 disease" ] ] [ fhir:code [ fhir:v "228340" ] ; fhir:display [ fhir:v "CLN4A disease" ] ] [ fhir:code [ fhir:v "228343" ] ; fhir:display [ fhir:v "CLN4B disease" ] ] [ fhir:code [ fhir:v "228346" ] ; fhir:display [ fhir:v "CLN3 disease" ] ] [ fhir:code [ fhir:v "228349" ] ; fhir:display [ fhir:v "CLN2 disease" ] ] [ fhir:code [ fhir:v "228354" ] ; fhir:display [ fhir:v "CLN8 disease" ] ] [ fhir:code [ fhir:v "228357" ] ; fhir:display [ fhir:v "CLN9 disease" ] ] [ fhir:code [ fhir:v "228360" ] ; fhir:display [ fhir:v "CLN5 disease" ] ] [ fhir:code [ fhir:v "228363" ] ; fhir:display [ fhir:v "CLN6 disease" ] ] [ fhir:code [ fhir:v "228366" ] ; fhir:display [ fhir:v "CLN7 disease" ] ] [ fhir:code [ fhir:v "228371" ] ; fhir:display [ fhir:v "Foodborne botulism" ] ] [ fhir:code [ fhir:v "228374" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2B5" ] ] [ fhir:code [ fhir:v "228379" ] ; fhir:display [ fhir:v "Virus-associated trichodysplasia spinulosa" ] ] [ fhir:code [ fhir:v "228384" ] ; fhir:display [ fhir:v "5q14.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "228387" ] ; fhir:display [ fhir:v "Spondylo-megaepiphyseal-metaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "228390" ] ; fhir:display [ fhir:v "Frontonasal dysplasia-alopecia-genital anomalies syndrome" ] ] [ fhir:code [ fhir:v "228396" ] ; fhir:display [ fhir:v "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome" ] ] [ fhir:code [ fhir:v "228399" ] ; fhir:display [ fhir:v "8q12 microduplication syndrome" ] ] [ fhir:code [ fhir:v "228402" ] ; fhir:display [ fhir:v "2q23.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "228410" ] ; fhir:display [ fhir:v "Polyvalvular heart disease syndrome" ] ] [ fhir:code [ fhir:v "228415" ] ; fhir:display [ fhir:v "5q35 microduplication syndrome" ] ] [ fhir:code [ fhir:v "228423" ] ; fhir:display [ fhir:v "Monocytopenia with susceptibility to infections" ] ] [ fhir:code [ fhir:v "228426" ] ; fhir:display [ fhir:v "Syndromic multisystem autoimmune disease due to Itch deficiency" ] ] [ fhir:code [ fhir:v "2285" ] ; fhir:display [ fhir:v "Primary basilar invagination" ] ] [ fhir:code [ fhir:v "2287" ] ; fhir:display [ fhir:v "Fused mandibular incisors" ] ] [ fhir:code [ fhir:v "2289" ] ; fhir:display [ fhir:v "Neuronal intranuclear inclusion disease" ] ] [ fhir:code [ fhir:v "229" ] ; fhir:display [ fhir:v "Familial aortic dissection" ] ] [ fhir:code [ fhir:v "2290" ] ; fhir:display [ fhir:v "Microvillus inclusion disease" ] ] [ fhir:code [ fhir:v "2291" ] ; fhir:display [ fhir:v "Congenital velopharyngeal incompetence" ] ] [ fhir:code [ fhir:v "2295" ] ; fhir:display [ fhir:v "Familial articular hypermobility syndrome" ] ] [ fhir:code [ fhir:v "2297" ] ; fhir:display [ fhir:v "Insulin-resistance syndrome type A" ] ] [ fhir:code [ fhir:v "229717" ] ; fhir:display [ fhir:v "Isolated agammaglobulinemia" ] ] [ fhir:code [ fhir:v "2298" ] ; fhir:display [ fhir:v "Insulin-resistance syndrome type B" ] ] [ fhir:code [ fhir:v "2299" ] ; fhir:display [ fhir:v "Aortic arch interruption" ] ] [ fhir:code [ fhir:v "23" ] ; fhir:display [ fhir:v "Argininosuccinic aciduria" ] ] [ fhir:code [ fhir:v "230" ] ; fhir:display [ fhir:v "Dopamine beta-hydroxylase deficiency" ] ] [ fhir:code [ fhir:v "2300" ] ; fhir:display [ fhir:v "Multiple intestinal atresia" ] ] [ fhir:code [ fhir:v "2301" ] ; fhir:display [ fhir:v "Congenital short bowel syndrome" ] ] [ fhir:code [ fhir:v "2302" ] ; fhir:display [ fhir:v "Asbestos intoxication" ] ] [ fhir:code [ fhir:v "2305" ] ; fhir:display [ fhir:v "Isotretinoin syndrome" ] ] [ fhir:code [ fhir:v "2306" ] ; fhir:display [ fhir:v "Isotretinoin-like syndrome" ] ] [ fhir:code [ fhir:v "2307" ] ; fhir:display [ fhir:v "IVIC syndrome" ] ] [ fhir:code [ fhir:v "2308" ] ; fhir:display [ fhir:v "Jacobsen syndrome" ] ] [ fhir:code [ fhir:v "230800" ] ; fhir:display [ fhir:v "Toxin-mediated infectious botulism" ] ] [ fhir:code [ fhir:v "230839" ] ; fhir:display [ fhir:v "Classical-like Ehlers-Danlos syndrome type 1" ] ] [ fhir:code [ fhir:v "230851" ] ; fhir:display [ fhir:v "Cardiac-valvular Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "230857" ] ; fhir:display [ fhir:v "Ehlers-Danlos/osteogenesis imperfecta syndrome" ] ] [ fhir:code [ fhir:v "2309" ] ; fhir:display [ fhir:v "Pachyonychia congenita" ] ] [ fhir:code [ fhir:v "231" ] ; fhir:display [ fhir:v "Dracunculiasis" ] ] [ fhir:code [ fhir:v "2310" ] ; fhir:display [ fhir:v "Absence deformity of leg-cataract syndrome" ] ] [ fhir:code [ fhir:v "231013" ] ; fhir:display [ fhir:v "Congenital trigeminal anesthesia" ] ] [ fhir:code [ fhir:v "231031" ] ; fhir:display [ fhir:v "Erythema palmare hereditarium" ] ] [ fhir:code [ fhir:v "231040" ] ; fhir:display [ fhir:v "Familial generalized lentiginosis" ] ] [ fhir:code [ fhir:v "231080" ] ; fhir:display [ fhir:v "High-grade dysplasia in patients with Barrett esophagus" ] ] [ fhir:code [ fhir:v "2311" ] ; fhir:display [ fhir:v "Autosomal recessive spondylocostal dysostosis" ] ] [ fhir:code [ fhir:v "231108" ] ; fhir:display [ fhir:v "Rhabdoid tumor predisposition syndrome" ] ] [ fhir:code [ fhir:v "231111" ] ; fhir:display [ fhir:v "Drug-induced lupus erythematosus" ] ] [ fhir:code [ fhir:v "231117" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15" ] ] [ fhir:code [ fhir:v "231120" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome due to CDKN1C mutation" ] ] [ fhir:code [ fhir:v "231127" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome due to 11p15 microdeletion" ] ] [ fhir:code [ fhir:v "231130" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion" ] ] [ fhir:code [ fhir:v "231137" ] ; fhir:display [ fhir:v "Silver-Russell syndrome due to 7p11.2p13 microduplication" ] ] [ fhir:code [ fhir:v "231140" ] ; fhir:display [ fhir:v "Silver-Russell syndrome due to an imprinting defect of 11p15" ] ] [ fhir:code [ fhir:v "231144" ] ; fhir:display [ fhir:v "Silver-Russell syndrome due to 11p15 microduplication" ] ] [ fhir:code [ fhir:v "231147" ] ; fhir:display [ fhir:v "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11" ] ] [ fhir:code [ fhir:v "231154" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to partial RAG1 deficiency" ] ] [ fhir:code [ fhir:v "231160" ] ; fhir:display [ fhir:v "Familial cerebral saccular aneurysm" ] ] [ fhir:code [ fhir:v "231169" ] ; fhir:display [ fhir:v "Usher syndrome type 1" ] ] [ fhir:code [ fhir:v "231178" ] ; fhir:display [ fhir:v "Usher syndrome type 2" ] ] [ fhir:code [ fhir:v "231183" ] ; fhir:display [ fhir:v "Usher syndrome type 3" ] ] [ fhir:code [ fhir:v "2312" ] ; fhir:display [ fhir:v "Transient familial neonatal hyperbilirubinemia" ] ] [ fhir:code [ fhir:v "231214" ] ; fhir:display [ fhir:v "Beta-thalassemia major" ] ] [ fhir:code [ fhir:v "231222" ] ; fhir:display [ fhir:v "Beta-thalassemia intermedia" ] ] [ fhir:code [ fhir:v "231226" ] ; fhir:display [ fhir:v "Dominant beta-thalassemia" ] ] [ fhir:code [ fhir:v "231237" ] ; fhir:display [ fhir:v "Delta-beta-thalassemia" ] ] [ fhir:code [ fhir:v "231242" ] ; fhir:display [ fhir:v "Hemoglobin C-beta-thalassemia syndrome" ] ] [ fhir:code [ fhir:v "231249" ] ; fhir:display [ fhir:v "Hemoglobin E-beta-thalassemia syndrome" ] ] [ fhir:code [ fhir:v "231393" ] ; fhir:display [ fhir:v "Beta-thalassemia-X-linked thrombocytopenia syndrome" ] ] [ fhir:code [ fhir:v "2314" ] ; fhir:display [ fhir:v "Autosomal dominant hyper-IgE syndrome" ] ] [ fhir:code [ fhir:v "231401" ] ; fhir:display [ fhir:v "Alpha-thalassemia-myelodysplastic syndrome" ] ] [ fhir:code [ fhir:v "231426" ] ; fhir:display [ fhir:v "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome" ] ] [ fhir:code [ fhir:v "231445" ] ; fhir:display [ fhir:v "Paraparetic variant of Guillain-Barré syndrome" ] ] [ fhir:code [ fhir:v "231450" ] ; fhir:display [ fhir:v "Acute pure sensory neuropathy" ] ] [ fhir:code [ fhir:v "231457" ] ; fhir:display [ fhir:v "Acute pandysautonomia" ] ] [ fhir:code [ fhir:v "231466" ] ; fhir:display [ fhir:v "Acute sensory ataxic neuropathy" ] ] [ fhir:code [ fhir:v "2315" ] ; fhir:display [ fhir:v "Johanson-Blizzard syndrome" ] ] [ fhir:code [ fhir:v "231500" ] ; fhir:display [ fhir:v "Hermansky-Pudlak syndrome due to BLOC-3 deficiency" ] ] [ fhir:code [ fhir:v "231512" ] ; fhir:display [ fhir:v "Hermansky-Pudlak syndrome due to BLOC-2 deficiency" ] ] [ fhir:code [ fhir:v "231531" ] ; fhir:display [ fhir:v "Hermansky-Pudlak syndrome due to BLOC-1 deficiency" ] ] [ fhir:code [ fhir:v "231556" ] ; fhir:display [ fhir:v "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "231568" ] ; fhir:display [ fhir:v "Autosomal dominant generalized dystrophic epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "231573" ] ; fhir:display [ fhir:v "Congenital erosive and vesicular dermatosis" ] ] [ fhir:code [ fhir:v "231580" ] ; fhir:display [ fhir:v "Primary unilateral adrenal hyperplasia" ] ] [ fhir:code [ fhir:v "2316" ] ; fhir:display [ fhir:v "Johnson neuroectodermal syndrome" ] ] [ fhir:code [ fhir:v "231625" ] ; fhir:display [ fhir:v "Adrenocortical carcinoma with pure aldosterone hypersecretion" ] ] [ fhir:code [ fhir:v "231632" ] ; fhir:display [ fhir:v "Ectopic aldosterone-producing tumor" ] ] [ fhir:code [ fhir:v "231662" ] ; fhir:display [ fhir:v "Isolated growth hormone deficiency type IA" ] ] [ fhir:code [ fhir:v "231671" ] ; fhir:display [ fhir:v "Isolated growth hormone deficiency type IB" ] ] [ fhir:code [ fhir:v "231679" ] ; fhir:display [ fhir:v "Isolated growth hormone deficiency type II" ] ] [ fhir:code [ fhir:v "231692" ] ; fhir:display [ fhir:v "Isolated growth hormone deficiency type III" ] ] [ fhir:code [ fhir:v "231720" ] ; fhir:display [ fhir:v "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome" ] ] [ fhir:code [ fhir:v "231736" ] ; fhir:display [ fhir:v "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome" ] ] [ fhir:code [ fhir:v "231742" ] ; fhir:display [ fhir:v "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome" ] ] [ fhir:code [ fhir:v "2318" ] ; fhir:display [ fhir:v "Joubert syndrome with oculorenal defect" ] ] [ fhir:code [ fhir:v "2319" ] ; fhir:display [ fhir:v "Juberg-Hayward syndrome" ] ] [ fhir:code [ fhir:v "232" ] ; fhir:display [ fhir:v "Sickle cell anemia" ] ] [ fhir:code [ fhir:v "2321" ] ; fhir:display [ fhir:v "Jung syndrome" ] ] [ fhir:code [ fhir:v "2322" ] ; fhir:display [ fhir:v "Kabuki syndrome" ] ] [ fhir:code [ fhir:v "2323" ] ; fhir:display [ fhir:v "Sanjad-Sakati syndrome" ] ] [ fhir:code [ fhir:v "2324" ] ; fhir:display [ fhir:v "Osteopenia-intellectual disability-sparse hair syndrome" ] ] [ fhir:code [ fhir:v "2325" ] ; fhir:display [ fhir:v "Epidermolysis bullosa simplex with anodontia/hypodontia" ] ] [ fhir:code [ fhir:v "2326" ] ; fhir:display [ fhir:v "Kallmann syndrome-heart disease syndrome" ] ] [ fhir:code [ fhir:v "2328" ] ; fhir:display [ fhir:v "Kapur-Toriello syndrome" ] ] [ fhir:code [ fhir:v "2329" ] ; fhir:display [ fhir:v "Karsch-Neugebauer syndrome" ] ] [ fhir:code [ fhir:v "233" ] ; fhir:display [ fhir:v "Duane retraction syndrome" ] ] [ fhir:code [ fhir:v "2330" ] ; fhir:display [ fhir:v "Kasabach-Merritt syndrome" ] ] [ fhir:code [ fhir:v "2331" ] ; fhir:display [ fhir:v "Kawasaki disease" ] ] [ fhir:code [ fhir:v "2332" ] ; fhir:display [ fhir:v "KBG syndrome" ] ] [ fhir:code [ fhir:v "2333" ] ; fhir:display [ fhir:v "Kenny-Caffey syndrome" ] ] [ fhir:code [ fhir:v "2334" ] ; fhir:display [ fhir:v "Autosomal dominant keratitis" ] ] [ fhir:code [ fhir:v "2337" ] ; fhir:display [ fhir:v "Non-epidermolytic palmoplantar keratoderma" ] ] [ fhir:code [ fhir:v "2339" ] ; fhir:display [ fhir:v "Keratosis follicularis-dwarfism-cerebral atrophy syndrome" ] ] [ fhir:code [ fhir:v "234" ] ; fhir:display [ fhir:v "Dubin-Johnson syndrome" ] ] [ fhir:code [ fhir:v "2340" ] ; fhir:display [ fhir:v "Keratosis follicularis spinulosa decalvans" ] ] [ fhir:code [ fhir:v "2342" ] ; fhir:display [ fhir:v "Haim-Munk syndrome" ] ] [ fhir:code [ fhir:v "2345" ] ; fhir:display [ fhir:v "Isolated Klippel-Feil syndrome" ] ] [ fhir:code [ fhir:v "2347" ] ; fhir:display [ fhir:v "Lethal Kniest-like dysplasia" ] ] [ fhir:code [ fhir:v "2348" ] ; fhir:display [ fhir:v "Familial partial lipodystrophy, Dunnigan type" ] ] [ fhir:code [ fhir:v "2349" ] ; fhir:display [ fhir:v "Muscular pseudohypertrophy-hypothyroidism syndrome" ] ] [ fhir:code [ fhir:v "235" ] ; fhir:display [ fhir:v "Dubowitz syndrome" ] ] [ fhir:code [ fhir:v "2351" ] ; fhir:display [ fhir:v "Kousseff syndrome" ] ] [ fhir:code [ fhir:v "2353" ] ; fhir:display [ fhir:v "Schilbach-Rott syndrome" ] ] [ fhir:code [ fhir:v "2356" ] ; fhir:display [ fhir:v "Arachnoid cyst" ] ] [ fhir:code [ fhir:v "2357" ] ; fhir:display [ fhir:v "Bronchogenic cyst" ] ] [ fhir:code [ fhir:v "236" ] ; fhir:display [ fhir:v "Trisomy 9p" ] ] [ fhir:code [ fhir:v "2363" ] ; fhir:display [ fhir:v "Lacrimoauriculodentodigital syndrome" ] ] [ fhir:code [ fhir:v "2364" ] ; fhir:display [ fhir:v "Glycogen storage disease due to lactate dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "2368" ] ; fhir:display [ fhir:v "Gastroschisis" ] ] [ fhir:code [ fhir:v "2369" ] ; fhir:display [ fhir:v "Limb body wall complex" ] ] [ fhir:code [ fhir:v "237" ] ; fhir:display [ fhir:v "Duplication of urethra" ] ] [ fhir:code [ fhir:v "2370" ] ; fhir:display [ fhir:v "Larsen-like osseous dysplasia-short stature syndrome" ] ] [ fhir:code [ fhir:v "2371" ] ; fhir:display [ fhir:v "Lethal Larsen-like syndrome" ] ] [ fhir:code [ fhir:v "2372" ] ; fhir:display [ fhir:v "Laryngocele" ] ] [ fhir:code [ fhir:v "2373" ] ; fhir:display [ fhir:v "Congenital laryngomalacia" ] ] [ fhir:code [ fhir:v "2374" ] ; fhir:display [ fhir:v "Congenital laryngeal web" ] ] [ fhir:code [ fhir:v "2375" ] ; fhir:display [ fhir:v "Laryngeal abductor paralysis-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2377" ] ; fhir:display [ fhir:v "Laurence-Moon syndrome" ] ] [ fhir:code [ fhir:v "2378" ] ; fhir:display [ fhir:v "Laurin-Sandrow syndrome" ] ] [ fhir:code [ fhir:v "2379" ] ; fhir:display [ fhir:v "Early-onset parkinsonism-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "238" ] ; fhir:display [ fhir:v "Digestive duplication" ] ] [ fhir:code [ fhir:v "2380" ] ; fhir:display [ fhir:v "Legg-Calvé-Perthes disease" ] ] [ fhir:code [ fhir:v "2382" ] ; fhir:display [ fhir:v "Lennox-Gastaut syndrome" ] ] [ fhir:code [ fhir:v "238269" ] ; fhir:display [ fhir:v "AApoAII amyloidosis" ] ] [ fhir:code [ fhir:v "238305" ] ; fhir:display [ fhir:v "Infundibulo-neurohypophysitis" ] ] [ fhir:code [ fhir:v "238329" ] ; fhir:display [ fhir:v "Severe X-linked mitochondrial encephalomyopathy" ] ] [ fhir:code [ fhir:v "238446" ] ; fhir:display [ fhir:v "15q11q13 microduplication syndrome" ] ] [ fhir:code [ fhir:v "238455" ] ; fhir:display [ fhir:v "Infantile dystonia-parkinsonism" ] ] [ fhir:code [ fhir:v "238459" ] ; fhir:display [ fhir:v "SLC35A1-CDG" ] ] [ fhir:code [ fhir:v "238468" ] ; fhir:display [ fhir:v "Hypohidrotic ectodermal dysplasia" ] ] [ fhir:code [ fhir:v "238475" ] ; fhir:display [ fhir:v "Familial hypercholanemia" ] ] [ fhir:code [ fhir:v "238505" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to CD27 deficiency" ] ] [ fhir:code [ fhir:v "238523" ] ; fhir:display [ fhir:v "Atypical hypotonia-cystinuria syndrome" ] ] [ fhir:code [ fhir:v "238557" ] ; fhir:display [ fhir:v "Chuvash erythrocytosis" ] ] [ fhir:code [ fhir:v "238569" ] ; fhir:display [ fhir:v "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" ] ] [ fhir:code [ fhir:v "238578" ] ; fhir:display [ fhir:v "Familial clubfoot due to 17q23.1q23.2 microduplication" ] ] [ fhir:code [ fhir:v "238583" ] ; fhir:display [ fhir:v "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency" ] ] [ fhir:code [ fhir:v "238593" ] ; fhir:display [ fhir:v "IgG4-related mesenteritis" ] ] [ fhir:code [ fhir:v "2386" ] ; fhir:display [ fhir:v "Leukoencephalopathy-palmoplantar keratoderma syndrome" ] ] [ fhir:code [ fhir:v "238606" ] ; fhir:display [ fhir:v "Primary orthostatic tremor" ] ] [ fhir:code [ fhir:v "238613" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome due to NSD1 mutation" ] ] [ fhir:code [ fhir:v "238621" ] ; fhir:display [ fhir:v "Ileal pouch anal anastomosis related faecal incontinence" ] ] [ fhir:code [ fhir:v "238624" ] ; fhir:display [ fhir:v "Idiopathic intracranial hypertension" ] ] [ fhir:code [ fhir:v "238637" ] ; fhir:display [ fhir:v "Megacystis-megaureter syndrome" ] ] [ fhir:code [ fhir:v "238642" ] ; fhir:display [ fhir:v "Primary megaureter, adult-onset form" ] ] [ fhir:code [ fhir:v "238646" ] ; fhir:display [ fhir:v "Congenital primary megaureter, obstructed form" ] ] [ fhir:code [ fhir:v "238650" ] ; fhir:display [ fhir:v "Congenital primary megaureter, refluxing form" ] ] [ fhir:code [ fhir:v "238654" ] ; fhir:display [ fhir:v "Congenital primary megaureter, nonrefluxing and unobstructed form" ] ] [ fhir:code [ fhir:v "238666" ] ; fhir:display [ fhir:v "Isolated congenital hypogonadotropic hypogonadism" ] ] [ fhir:code [ fhir:v "238670" ] ; fhir:display [ fhir:v "Isolated thyrotropin-releasing hormone deficiency" ] ] [ fhir:code [ fhir:v "238688" ] ; fhir:display [ fhir:v "Neonatal iodine exposure" ] ] [ fhir:code [ fhir:v "2387" ] ; fhir:display [ fhir:v "Leukonychia totalis" ] ] [ fhir:code [ fhir:v "238722" ] ; fhir:display [ fhir:v "Familial congenital mirror movements" ] ] [ fhir:code [ fhir:v "238744" ] ; fhir:display [ fhir:v "Mammary-digital-nail syndrome" ] ] [ fhir:code [ fhir:v "238750" ] ; fhir:display [ fhir:v "4q21 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "238763" ] ; fhir:display [ fhir:v "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea" ] ] [ fhir:code [ fhir:v "238769" ] ; fhir:display [ fhir:v "1q44 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "2388" ] ; fhir:display [ fhir:v "Choreoacanthocytosis" ] ] [ fhir:code [ fhir:v "239" ] ; fhir:display [ fhir:v "Dyggve-Melchior-Clausen disease" ] ] [ fhir:code [ fhir:v "2390" ] ; fhir:display [ fhir:v "Lichtenstein syndrome" ] ] [ fhir:code [ fhir:v "2391" ] ; fhir:display [ fhir:v "Congenitally short costocoracoid ligament" ] ] [ fhir:code [ fhir:v "2394" ] ; fhir:display [ fhir:v "Pyruvate dehydrogenase E3 deficiency" ] ] [ fhir:code [ fhir:v "2396" ] ; fhir:display [ fhir:v "Encephalocraniocutaneous lipomatosis" ] ] [ fhir:code [ fhir:v "2398" ] ; fhir:display [ fhir:v "Multiple symmetric lipomatosis" ] ] [ fhir:code [ fhir:v "2399" ] ; fhir:display [ fhir:v "Nasopalpebral lipoma-coloboma syndrome" ] ] [ fhir:code [ fhir:v "24" ] ; fhir:display [ fhir:v "Fumaric aciduria" ] ] [ fhir:code [ fhir:v "240" ] ; fhir:display [ fhir:v "Léri-Weill dyschondrosteosis" ] ] [ fhir:code [ fhir:v "2400" ] ; fhir:display [ fhir:v "Peripheral motor neuropathy-dysautonomia syndrome" ] ] [ fhir:code [ fhir:v "240071" ] ; fhir:display [ fhir:v "Classic progressive supranuclear palsy syndrome" ] ] [ fhir:code [ fhir:v "240085" ] ; fhir:display [ fhir:v "Progressive supranuclear palsy-parkinsonism syndrome" ] ] [ fhir:code [ fhir:v "240094" ] ; fhir:display [ fhir:v "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome" ] ] [ fhir:code [ fhir:v "240103" ] ; fhir:display [ fhir:v "Progressive supranuclear palsy-corticobasal syndrome" ] ] [ fhir:code [ fhir:v "240112" ] ; fhir:display [ fhir:v "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome" ] ] [ fhir:code [ fhir:v "2404" ] ; fhir:display [ fhir:v "Loiasis" ] ] [ fhir:code [ fhir:v "2405" ] ; fhir:display [ fhir:v "Thickened earlobes-conductive deafness syndrome" ] ] [ fhir:code [ fhir:v "2406" ] ; fhir:display [ fhir:v "Locked-in syndrome" ] ] [ fhir:code [ fhir:v "2407" ] ; fhir:display [ fhir:v "Laryngo-onycho-cutaneous syndrome" ] ] [ fhir:code [ fhir:v "240760" ] ; fhir:display [ fhir:v "Nijmegen breakage syndrome-like disorder" ] ] [ fhir:code [ fhir:v "2408" ] ; fhir:display [ fhir:v "Lowe-Kohn-Cohen syndrome" ] ] [ fhir:code [ fhir:v "2409" ] ; fhir:display [ fhir:v "Lowry-MacLean syndrome" ] ] [ fhir:code [ fhir:v "241" ] ; fhir:display [ fhir:v "Dyschromatosis universalis hereditaria" ] ] [ fhir:code [ fhir:v "2410" ] ; fhir:display [ fhir:v "Hypergonadotropic hypogonadism-cataract syndrome" ] ] [ fhir:code [ fhir:v "2412" ] ; fhir:display [ fhir:v "Dislocation of the hip-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "2414" ] ; fhir:display [ fhir:v "Congenital pulmonary lymphangiectasia" ] ] [ fhir:code [ fhir:v "242" ] ; fhir:display [ fhir:v "46,XY complete gonadal dysgenesis" ] ] [ fhir:code [ fhir:v "2420" ] ; fhir:display [ fhir:v "Primary pulmonary lymphoma" ] ] [ fhir:code [ fhir:v "2427" ] ; fhir:display [ fhir:v "Macrocephaly-short stature-paraplegia syndrome" ] ] [ fhir:code [ fhir:v "2429" ] ; fhir:display [ fhir:v "Macrocephaly-spastic paraplegia-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "243" ] ; fhir:display [ fhir:v "46,XX gonadal dysgenesis" ] ] [ fhir:code [ fhir:v "2430" ] ; fhir:display [ fhir:v "Congenital macroglossia" ] ] [ fhir:code [ fhir:v "2432" ] ; fhir:display [ fhir:v "Macrosomia-microphthalmia-cleft palate syndrome" ] ] [ fhir:code [ fhir:v "243343" ] ; fhir:display [ fhir:v "Dimethylglycine dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "243367" ] ; fhir:display [ fhir:v "Acute fatty liver of pregnancy" ] ] [ fhir:code [ fhir:v "2435" ] ; fhir:display [ fhir:v "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2437" ] ; fhir:display [ fhir:v "Czeizel-Losonci syndrome" ] ] [ fhir:code [ fhir:v "2438" ] ; fhir:display [ fhir:v "Hand-foot-genital syndrome" ] ] [ fhir:code [ fhir:v "2439" ] ; fhir:display [ fhir:v "Patterson-Stevenson-Fontaine syndrome" ] ] [ fhir:code [ fhir:v "244" ] ; fhir:display [ fhir:v "Primary ciliary dyskinesia" ] ] [ fhir:code [ fhir:v "2440" ] ; fhir:display [ fhir:v "Isolated split hand-split foot malformation" ] ] [ fhir:code [ fhir:v "244242" ] ; fhir:display [ fhir:v "HELLP syndrome" ] ] [ fhir:code [ fhir:v "244275" ] ; fhir:display [ fhir:v "De novo thrombotic microangiopathy after kidney transplantation" ] ] [ fhir:code [ fhir:v "244283" ] ; fhir:display [ fhir:v "Biliary atresia with splenic malformation syndrome" ] ] [ fhir:code [ fhir:v "244305" ] ; fhir:display [ fhir:v "Dominant hypophosphatemia with nephrolithiasis or osteoporosis" ] ] [ fhir:code [ fhir:v "244310" ] ; fhir:display [ fhir:v "RFT1-CDG" ] ] [ fhir:code [ fhir:v "2444" ] ; fhir:display [ fhir:v "Congenital pulmonary airway malformation" ] ] [ fhir:code [ fhir:v "245" ] ; fhir:display [ fhir:v "Nager syndrome" ] ] [ fhir:code [ fhir:v "2451" ] ; fhir:display [ fhir:v "Mucocutaneous venous malformations" ] ] [ fhir:code [ fhir:v "2456" ] ; fhir:display [ fhir:v "Familial supernumerary nipples" ] ] [ fhir:code [ fhir:v "2457" ] ; fhir:display [ fhir:v "Mandibuloacral dysplasia" ] ] [ fhir:code [ fhir:v "2459" ] ; fhir:display [ fhir:v "Mansonelliasis" ] ] [ fhir:code [ fhir:v "246" ] ; fhir:display [ fhir:v "Postaxial acrofacial dysostosis" ] ] [ fhir:code [ fhir:v "2460" ] ; fhir:display [ fhir:v "Van den Ende-Gupta syndrome" ] ] [ fhir:code [ fhir:v "2461" ] ; fhir:display [ fhir:v "Marden-Walker syndrome" ] ] [ fhir:code [ fhir:v "2462" ] ; fhir:display [ fhir:v "Shprintzen-Goldberg syndrome" ] ] [ fhir:code [ fhir:v "2463" ] ; fhir:display [ fhir:v "Marfanoid habitus-autosomal recessive intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2464" ] ; fhir:display [ fhir:v "Marfanoid syndrome, De Silva type" ] ] [ fhir:code [ fhir:v "2466" ] ; fhir:display [ fhir:v "MASA syndrome" ] ] [ fhir:code [ fhir:v "2470" ] ; fhir:display [ fhir:v "Matthew-Wood syndrome" ] ] [ fhir:code [ fhir:v "2471" ] ; fhir:display [ fhir:v "McDonough syndrome" ] ] [ fhir:code [ fhir:v "247165" ] ; fhir:display [ fhir:v "Infantile mercury poisoning" ] ] [ fhir:code [ fhir:v "247198" ] ; fhir:display [ fhir:v "Progressive cerebello-cerebral atrophy" ] ] [ fhir:code [ fhir:v "247203" ] ; fhir:display [ fhir:v "Collecting duct carcinoma" ] ] [ fhir:code [ fhir:v "247234" ] ; fhir:display [ fhir:v "Sporadic adult-onset ataxia of unknown etiology" ] ] [ fhir:code [ fhir:v "247245" ] ; fhir:display [ fhir:v "Superficial siderosis" ] ] [ fhir:code [ fhir:v "247257" ] ; fhir:display [ fhir:v "Inhalational anthrax" ] ] [ fhir:code [ fhir:v "247262" ] ; fhir:display [ fhir:v "Hyperphosphatasia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2473" ] ; fhir:display [ fhir:v "McKusick-Kaufman syndrome" ] ] [ fhir:code [ fhir:v "247353" ] ; fhir:display [ fhir:v "Generalized pustular psoriasis" ] ] [ fhir:code [ fhir:v "247378" ] ; fhir:display [ fhir:v "Autosomal recessive secondary polycythemia not associated with VHL gene" ] ] [ fhir:code [ fhir:v "2475" ] ; fhir:display [ fhir:v "White forelock with malformations" ] ] [ fhir:code [ fhir:v "247511" ] ; fhir:display [ fhir:v "Autosomal dominant secondary polycythemia" ] ] [ fhir:code [ fhir:v "247522" ] ; fhir:display [ fhir:v "Primary ciliary dyskinesia-retinitis pigmentosa syndrome" ] ] [ fhir:code [ fhir:v "247525" ] ; fhir:display [ fhir:v "Citrullinemia type I" ] ] [ fhir:code [ fhir:v "247546" ] ; fhir:display [ fhir:v "Acute neonatal citrullinemia type I" ] ] [ fhir:code [ fhir:v "247573" ] ; fhir:display [ fhir:v "Late-onset citrullinemia type I" ] ] [ fhir:code [ fhir:v "247585" ] ; fhir:display [ fhir:v "Citrullinemia type II" ] ] [ fhir:code [ fhir:v "247598" ] ; fhir:display [ fhir:v "Neonatal intrahepatic cholestasis due to citrin deficiency" ] ] [ fhir:code [ fhir:v "2476" ] ; fhir:display [ fhir:v "Dysraphism-cleft lip/palate-limb reduction defects syndrome" ] ] [ fhir:code [ fhir:v "247604" ] ; fhir:display [ fhir:v "Juvenile primary lateral sclerosis" ] ] [ fhir:code [ fhir:v "247623" ] ; fhir:display [ fhir:v "Perinatal lethal hypophosphatasia" ] ] [ fhir:code [ fhir:v "247638" ] ; fhir:display [ fhir:v "Prenatal benign hypophosphatasia" ] ] [ fhir:code [ fhir:v "247651" ] ; fhir:display [ fhir:v "Infantile hypophosphatasia" ] ] [ fhir:code [ fhir:v "247667" ] ; fhir:display [ fhir:v "Childhood-onset hypophosphatasia" ] ] [ fhir:code [ fhir:v "247676" ] ; fhir:display [ fhir:v "Adult hypophosphatasia" ] ] [ fhir:code [ fhir:v "247685" ] ; fhir:display [ fhir:v "Odontohypophosphatasia" ] ] [ fhir:code [ fhir:v "247691" ] ; fhir:display [ fhir:v "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" ] ] [ fhir:code [ fhir:v "247698" ] ; fhir:display [ fhir:v "Multiple endocrine neoplasia type 2A" ] ] [ fhir:code [ fhir:v "2477" ] ; fhir:display [ fhir:v "Megalencephaly" ] ] [ fhir:code [ fhir:v "247709" ] ; fhir:display [ fhir:v "Multiple endocrine neoplasia type 2B" ] ] [ fhir:code [ fhir:v "247718" ] ; fhir:display [ fhir:v "Inflammatory myopathy with abundant macrophages" ] ] [ fhir:code [ fhir:v "247724" ] ; fhir:display [ fhir:v "Idiopathic eosinophilic myositis" ] ] [ fhir:code [ fhir:v "247762" ] ; fhir:display [ fhir:v "Lipoblastoma" ] ] [ fhir:code [ fhir:v "247768" ] ; fhir:display [ fhir:v "Müllerian aplasia and hyperandrogenism" ] ] [ fhir:code [ fhir:v "247775" ] ; fhir:display [ fhir:v "Mayer-Rokitansky-Küster-Hauser syndrome type 1" ] ] [ fhir:code [ fhir:v "247790" ] ; fhir:display [ fhir:v "FTH1-related iron overload" ] ] [ fhir:code [ fhir:v "247794" ] ; fhir:display [ fhir:v "Juvenile cataract-microcornea-renal glucosuria syndrome" ] ] [ fhir:code [ fhir:v "247798" ] ; fhir:display [ fhir:v "MUTYH-related attenuated familial adenomatous polyposis" ] ] [ fhir:code [ fhir:v "2478" ] ; fhir:display [ fhir:v "Megalencephalic leukoencephalopathy with subcortical cysts" ] ] [ fhir:code [ fhir:v "247806" ] ; fhir:display [ fhir:v "APC-related attenuated familial adenomatous polyposis" ] ] [ fhir:code [ fhir:v "247815" ] ; fhir:display [ fhir:v "Autosomal recessive ataxia due to PEX10 deficiency" ] ] [ fhir:code [ fhir:v "247820" ] ; fhir:display [ fhir:v "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome" ] ] [ fhir:code [ fhir:v "247827" ] ; fhir:display [ fhir:v "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome" ] ] [ fhir:code [ fhir:v "247834" ] ; fhir:display [ fhir:v "Occult macular dystrophy" ] ] [ fhir:code [ fhir:v "247868" ] ; fhir:display [ fhir:v "NLRP12-associated hereditary periodic fever syndrome" ] ] [ fhir:code [ fhir:v "2479" ] ; fhir:display [ fhir:v "Megalocornea-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "248" ] ; fhir:display [ fhir:v "Autosomal recessive hypohidrotic ectodermal dysplasia" ] ] [ fhir:code [ fhir:v "2481" ] ; fhir:display [ fhir:v "Neurocutaneous melanocytosis" ] ] [ fhir:code [ fhir:v "248111" ] ; fhir:display [ fhir:v "Juvenile Huntington disease" ] ] [ fhir:code [ fhir:v "2482" ] ; fhir:display [ fhir:v "Melhem-Fahl syndrome" ] ] [ fhir:code [ fhir:v "2483" ] ; fhir:display [ fhir:v "Melkersson-Rosenthal syndrome" ] ] [ fhir:code [ fhir:v "248340" ] ; fhir:display [ fhir:v "Isolated delta-storage pool disease" ] ] [ fhir:code [ fhir:v "2484" ] ; fhir:display [ fhir:v "Melnick-Needles syndrome" ] ] [ fhir:code [ fhir:v "248408" ] ; fhir:display [ fhir:v "Familial hypodysfibrinogenemia" ] ] [ fhir:code [ fhir:v "2485" ] ; fhir:display [ fhir:v "Melorheostosis" ] ] [ fhir:code [ fhir:v "2487" ] ; fhir:display [ fhir:v "Lower limb malformation-hypospadias syndrome" ] ] [ fhir:code [ fhir:v "2489" ] ; fhir:display [ fhir:v "Upper limb defect-eye and ear abnormalities syndrome" ] ] [ fhir:code [ fhir:v "249" ] ; fhir:display [ fhir:v "Fibrous dysplasia of bone" ] ] [ fhir:code [ fhir:v "2491" ] ; fhir:display [ fhir:v "Müllerian duct anomalies-limb anomalies syndrome" ] ] [ fhir:code [ fhir:v "2492" ] ; fhir:display [ fhir:v "FATCO syndrome" ] ] [ fhir:code [ fhir:v "2494" ] ; fhir:display [ fhir:v "Ménétrier disease" ] ] [ fhir:code [ fhir:v "2495" ] ; fhir:display [ fhir:v "Meningioma" ] ] [ fhir:code [ fhir:v "2496" ] ; fhir:display [ fhir:v "Mesomelia-synostoses syndrome" ] ] [ fhir:code [ fhir:v "2497" ] ; fhir:display [ fhir:v "Upper limb mesomelic dysplasia" ] ] [ fhir:code [ fhir:v "2498" ] ; fhir:display [ fhir:v "Syndactyly type 8" ] ] [ fhir:code [ fhir:v "2499" ] ; fhir:display [ fhir:v "Metachondromatosis" ] ] [ fhir:code [ fhir:v "25" ] ; fhir:display [ fhir:v "Glutaryl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "2500" ] ; fhir:display [ fhir:v "Acrogeria" ] ] [ fhir:code [ fhir:v "2501" ] ; fhir:display [ fhir:v "Metaphyseal chondrodysplasia, Spahr type" ] ] [ fhir:code [ fhir:v "2502" ] ; fhir:display [ fhir:v "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome" ] ] [ fhir:code [ fhir:v "2504" ] ; fhir:display [ fhir:v "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome" ] ] [ fhir:code [ fhir:v "2505" ] ; fhir:display [ fhir:v "Multiple benign circumferential skin creases on limbs" ] ] [ fhir:code [ fhir:v "2508" ] ; fhir:display [ fhir:v "Corpus callosum agenesis-abnormal genitalia syndrome" ] ] [ fhir:code [ fhir:v "250831" ] ; fhir:display [ fhir:v "Logopenic progressive aphasia" ] ] [ fhir:code [ fhir:v "250923" ] ; fhir:display [ fhir:v "Isolated aniridia" ] ] [ fhir:code [ fhir:v "250932" ] ; fhir:display [ fhir:v "Autosomal dominant optic atrophy and peripheral neuropathy" ] ] [ fhir:code [ fhir:v "250972" ] ; fhir:display [ fhir:v "Polymicrogyria with optic nerve hypoplasia" ] ] [ fhir:code [ fhir:v "250977" ] ; fhir:display [ fhir:v "AICA-ribosiduria" ] ] [ fhir:code [ fhir:v "250984" ] ; fhir:display [ fhir:v "Autosomal recessive Stickler syndrome" ] ] [ fhir:code [ fhir:v "250989" ] ; fhir:display [ fhir:v "1q21.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "250994" ] ; fhir:display [ fhir:v "1q21.1 microduplication syndrome" ] ] [ fhir:code [ fhir:v "250999" ] ; fhir:display [ fhir:v "1q41q42 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "2510" ] ; fhir:display [ fhir:v "Micro syndrome" ] ] [ fhir:code [ fhir:v "251004" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome 1" ] ] [ fhir:code [ fhir:v "251009" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 1" ] ] [ fhir:code [ fhir:v "251014" ] ; fhir:display [ fhir:v "2q31.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "251019" ] ; fhir:display [ fhir:v "2q32q33 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "251028" ] ; fhir:display [ fhir:v "SATB2-associated syndrome due to a chromosomal rearrangement" ] ] [ fhir:code [ fhir:v "251038" ] ; fhir:display [ fhir:v "3q29 microduplication syndrome" ] ] [ fhir:code [ fhir:v "251043" ] ; fhir:display [ fhir:v "Ring chromosome 5 syndrome" ] ] [ fhir:code [ fhir:v "251046" ] ; fhir:display [ fhir:v "6p22 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "251056" ] ; fhir:display [ fhir:v "6q25 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "251061" ] ; fhir:display [ fhir:v "7q31 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "251066" ] ; fhir:display [ fhir:v "8p11.2 deletion syndrome" ] ] [ fhir:code [ fhir:v "251071" ] ; fhir:display [ fhir:v "8p23.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "251076" ] ; fhir:display [ fhir:v "8p23.1 duplication syndrome" ] ] [ fhir:code [ fhir:v "2511" ] ; fhir:display [ fhir:v "Microbrachycephaly-ptosis-cleft lip syndrome" ] ] [ fhir:code [ fhir:v "2512" ] ; fhir:display [ fhir:v "Autosomal recessive primary microcephaly" ] ] [ fhir:code [ fhir:v "251262" ] ; fhir:display [ fhir:v "Familial osteochondritis dissecans" ] ] [ fhir:code [ fhir:v "251274" ] ; fhir:display [ fhir:v "Familial hyperaldosteronism type III" ] ] [ fhir:code [ fhir:v "251279" ] ; fhir:display [ fhir:v "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" ] ] [ fhir:code [ fhir:v "251282" ] ; fhir:display [ fhir:v "Autosomal dominant spastic ataxia type 1" ] ] [ fhir:code [ fhir:v "251287" ] ; fhir:display [ fhir:v "Benign concentric annular macular dystrophy" ] ] [ fhir:code [ fhir:v "251290" ] ; fhir:display [ fhir:v "Parietal foramina with clavicular hypoplasia" ] ] [ fhir:code [ fhir:v "251295" ] ; fhir:display [ fhir:v "Pigmented paravenous retinochoroidal atrophy" ] ] [ fhir:code [ fhir:v "2513" ] ; fhir:display [ fhir:v "Microcephaly-albinism-digital anomalies syndrome" ] ] [ fhir:code [ fhir:v "251304" ] ; fhir:display [ fhir:v "Infantile onset panniculitis with uveitis and systemic granulomatosis" ] ] [ fhir:code [ fhir:v "251307" ] ; fhir:display [ fhir:v "Idiopathic recurrent pericarditis" ] ] [ fhir:code [ fhir:v "251325" ] ; fhir:display [ fhir:v "Drug-induced vasculitis" ] ] [ fhir:code [ fhir:v "251328" ] ; fhir:display [ fhir:v "Unclassified vasculitis" ] ] [ fhir:code [ fhir:v "251332" ] ; fhir:display [ fhir:v "Unexplained long-lasting fever/inflammatory syndrome" ] ] [ fhir:code [ fhir:v "251347" ] ; fhir:display [ fhir:v "Ataxia-telangiectasia-like disorder" ] ] [ fhir:code [ fhir:v "251359" ] ; fhir:display [ fhir:v "Sickle cell-beta-thalassemia disease syndrome" ] ] [ fhir:code [ fhir:v "251365" ] ; fhir:display [ fhir:v "Sickle cell-hemoglobin C disease syndrome" ] ] [ fhir:code [ fhir:v "251370" ] ; fhir:display [ fhir:v "Sickle cell-hemoglobin D disease syndrome" ] ] [ fhir:code [ fhir:v "251375" ] ; fhir:display [ fhir:v "Sickle cell-hemoglobin E disease syndrome" ] ] [ fhir:code [ fhir:v "251380" ] ; fhir:display [ fhir:v "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome" ] ] [ fhir:code [ fhir:v "251383" ] ; fhir:display [ fhir:v "CK syndrome" ] ] [ fhir:code [ fhir:v "251393" ] ; fhir:display [ fhir:v "Localized junctional epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "2514" ] ; fhir:display [ fhir:v "Autosomal dominant primary microcephaly" ] ] [ fhir:code [ fhir:v "2515" ] ; fhir:display [ fhir:v "Microcephaly-cardiomyopathy syndrome" ] ] [ fhir:code [ fhir:v "251510" ] ; fhir:display [ fhir:v "46,XY partial gonadal dysgenesis" ] ] [ fhir:code [ fhir:v "251515" ] ; fhir:display [ fhir:v "Distal arthrogryposis type 10" ] ] [ fhir:code [ fhir:v "251523" ] ; fhir:display [ fhir:v "Hyperzincemia and hypercalprotectinemia" ] ] [ fhir:code [ fhir:v "251576" ] ; fhir:display [ fhir:v "Gliosarcoma" ] ] [ fhir:code [ fhir:v "251579" ] ; fhir:display [ fhir:v "Giant cell glioblastoma" ] ] [ fhir:code [ fhir:v "251582" ] ; fhir:display [ fhir:v "Gliomatosis cerebri" ] ] [ fhir:code [ fhir:v "251589" ] ; fhir:display [ fhir:v "Anaplastic astrocytoma" ] ] [ fhir:code [ fhir:v "251595" ] ; fhir:display [ fhir:v "Diffuse astrocytoma" ] ] [ fhir:code [ fhir:v "251598" ] ; fhir:display [ fhir:v "Protoplasmic astrocytoma" ] ] [ fhir:code [ fhir:v "2516" ] ; fhir:display [ fhir:v "Microcephaly-cardiac defect-lung malsegmentation syndrome" ] ] [ fhir:code [ fhir:v "251601" ] ; fhir:display [ fhir:v "Fibrillary astrocytoma" ] ] [ fhir:code [ fhir:v "251604" ] ; fhir:display [ fhir:v "Gemistocytic astrocytoma" ] ] [ fhir:code [ fhir:v "251607" ] ; fhir:display [ fhir:v "Pleomorphic xanthoastrocytoma" ] ] [ fhir:code [ fhir:v "251612" ] ; fhir:display [ fhir:v "Pilocytic astrocytoma" ] ] [ fhir:code [ fhir:v "251615" ] ; fhir:display [ fhir:v "Pilomyxoid astrocytoma" ] ] [ fhir:code [ fhir:v "251618" ] ; fhir:display [ fhir:v "Subependymal giant cell astrocytoma" ] ] [ fhir:code [ fhir:v "251623" ] ; fhir:display [ fhir:v "Pituicytoma" ] ] [ fhir:code [ fhir:v "251627" ] ; fhir:display [ fhir:v "Oligodendroglioma" ] ] [ fhir:code [ fhir:v "251630" ] ; fhir:display [ fhir:v "Anaplastic oligodendroglioma" ] ] [ fhir:code [ fhir:v "251636" ] ; fhir:display [ fhir:v "Ependymoma" ] ] [ fhir:code [ fhir:v "251639" ] ; fhir:display [ fhir:v "Subependymoma" ] ] [ fhir:code [ fhir:v "251643" ] ; fhir:display [ fhir:v "Myxopapillary ependymoma" ] ] [ fhir:code [ fhir:v "251646" ] ; fhir:display [ fhir:v "Anaplastic ependymoma" ] ] [ fhir:code [ fhir:v "251656" ] ; fhir:display [ fhir:v "Oligoastrocytoma" ] ] [ fhir:code [ fhir:v "251663" ] ; fhir:display [ fhir:v "Anaplastic oligoastrocytoma" ] ] [ fhir:code [ fhir:v "251671" ] ; fhir:display [ fhir:v "Angiocentric glioma" ] ] [ fhir:code [ fhir:v "251674" ] ; fhir:display [ fhir:v "Chordoid glioma" ] ] [ fhir:code [ fhir:v "251679" ] ; fhir:display [ fhir:v "Astroblastoma" ] ] [ fhir:code [ fhir:v "2518" ] ; fhir:display [ fhir:v "Autosomal recessive chorioretinopathy-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "251855" ] ; fhir:display [ fhir:v "Anaplastic/large cell medulloblastoma" ] ] [ fhir:code [ fhir:v "251858" ] ; fhir:display [ fhir:v "Medulloblastoma with extensive nodularity" ] ] [ fhir:code [ fhir:v "251863" ] ; fhir:display [ fhir:v "Desmoplastic/nodular medulloblastoma" ] ] [ fhir:code [ fhir:v "251867" ] ; fhir:display [ fhir:v "Classic medulloblastoma" ] ] [ fhir:code [ fhir:v "251877" ] ; fhir:display [ fhir:v "Ganglioneuroblastoma" ] ] [ fhir:code [ fhir:v "251880" ] ; fhir:display [ fhir:v "Ependymoblastoma" ] ] [ fhir:code [ fhir:v "251883" ] ; fhir:display [ fhir:v "Medulloepithelioma of the central nervous system" ] ] [ fhir:code [ fhir:v "251899" ] ; fhir:display [ fhir:v "Choroid plexus carcinoma" ] ] [ fhir:code [ fhir:v "2519" ] ; fhir:display [ fhir:v "Microcephaly-seizures-intellectual disability-heart disease syndrome" ] ] [ fhir:code [ fhir:v "251902" ] ; fhir:display [ fhir:v "Atypical papilloma of choroid plexus" ] ] [ fhir:code [ fhir:v "251909" ] ; fhir:display [ fhir:v "Pineoblastoma" ] ] [ fhir:code [ fhir:v "251912" ] ; fhir:display [ fhir:v "Pineocytoma" ] ] [ fhir:code [ fhir:v "251915" ] ; fhir:display [ fhir:v "Papillary tumor of the pineal region" ] ] [ fhir:code [ fhir:v "251919" ] ; fhir:display [ fhir:v "Pineal parenchymal tumor of intermediate differenciation" ] ] [ fhir:code [ fhir:v "251927" ] ; fhir:display [ fhir:v "Extraventricular neurocytoma" ] ] [ fhir:code [ fhir:v "251931" ] ; fhir:display [ fhir:v "Cerebellar liponeurocytoma" ] ] [ fhir:code [ fhir:v "251937" ] ; fhir:display [ fhir:v "Gangliocytoma" ] ] [ fhir:code [ fhir:v "251940" ] ; fhir:display [ fhir:v "Desmoplastic infantile astrocytoma/ganglioglioma" ] ] [ fhir:code [ fhir:v "251946" ] ; fhir:display [ fhir:v "Dysembryoplastic neuroepithelial tumor" ] ] [ fhir:code [ fhir:v "251949" ] ; fhir:display [ fhir:v "Ganglioglioma" ] ] [ fhir:code [ fhir:v "251957" ] ; fhir:display [ fhir:v "Anaplastic ganglioglioma" ] ] [ fhir:code [ fhir:v "251962" ] ; fhir:display [ fhir:v "Papillary glioneuronal tumor" ] ] [ fhir:code [ fhir:v "251975" ] ; fhir:display [ fhir:v "Rosette-forming glioneuronal tumor" ] ] [ fhir:code [ fhir:v "251992" ] ; fhir:display [ fhir:v "Ganglioneuroma" ] ] [ fhir:code [ fhir:v "252006" ] ; fhir:display [ fhir:v "Yolk sac tumor of central nervous system" ] ] [ fhir:code [ fhir:v "252015" ] ; fhir:display [ fhir:v "Choriocarcinoma of the central nervous system" ] ] [ fhir:code [ fhir:v "252018" ] ; fhir:display [ fhir:v "Teratoma of the central nervous system" ] ] [ fhir:code [ fhir:v "252021" ] ; fhir:display [ fhir:v "Mixed germ cell tumor of central nervous system" ] ] [ fhir:code [ fhir:v "252031" ] ; fhir:display [ fhir:v "Diffuse leptomeningeal melanocytosis" ] ] [ fhir:code [ fhir:v "252046" ] ; fhir:display [ fhir:v "Meningeal melanocytoma" ] ] [ fhir:code [ fhir:v "252050" ] ; fhir:display [ fhir:v "Primary melanoma of the central nervous system" ] ] [ fhir:code [ fhir:v "252054" ] ; fhir:display [ fhir:v "Hemangioblastoma" ] ] [ fhir:code [ fhir:v "2521" ] ; fhir:display [ fhir:v "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome" ] ] [ fhir:code [ fhir:v "252128" ] ; fhir:display [ fhir:v "Malignant peripheral nerve sheath tumor with perineurial differentiation" ] ] [ fhir:code [ fhir:v "252164" ] ; fhir:display [ fhir:v "Benign schwannoma" ] ] [ fhir:code [ fhir:v "252175" ] ; fhir:display [ fhir:v "Vestibular schwannoma" ] ] [ fhir:code [ fhir:v "252183" ] ; fhir:display [ fhir:v "Neurofibroma" ] ] [ fhir:code [ fhir:v "2522" ] ; fhir:display [ fhir:v "Microcephaly-cervical spine fusion anomalies syndrome" ] ] [ fhir:code [ fhir:v "252202" ] ; fhir:display [ fhir:v "Constitutional mismatch repair deficiency syndrome" ] ] [ fhir:code [ fhir:v "252206" ] ; fhir:display [ fhir:v "Melanoma and neural system tumor syndrome" ] ] [ fhir:code [ fhir:v "252212" ] ; fhir:display [ fhir:v "Malignant triton tumor" ] ] [ fhir:code [ fhir:v "2523" ] ; fhir:display [ fhir:v "Microcephaly-brain defect-spasticity-hypernatremia syndrome" ] ] [ fhir:code [ fhir:v "2524" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 2" ] ] [ fhir:code [ fhir:v "2526" ] ; fhir:display [ fhir:v "Microcephaly-lymphedema-chorioretinopathy syndrome" ] ] [ fhir:code [ fhir:v "2528" ] ; fhir:display [ fhir:v "Microcephaly-microcornea syndrome, Seemanova type" ] ] [ fhir:code [ fhir:v "2533" ] ; fhir:display [ fhir:v "Microcephaly-deafness-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2536" ] ; fhir:display [ fhir:v "Microcornea-glaucoma-absent frontal sinuses syndrome" ] ] [ fhir:code [ fhir:v "2538" ] ; fhir:display [ fhir:v "Microgastria-limb reduction defect syndrome" ] ] [ fhir:code [ fhir:v "254334" ] ; fhir:display [ fhir:v "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B" ] ] [ fhir:code [ fhir:v "254343" ] ; fhir:display [ fhir:v "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" ] ] [ fhir:code [ fhir:v "254346" ] ; fhir:display [ fhir:v "19p13.12 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "254351" ] ; fhir:display [ fhir:v "Distal 7q11.23 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "254361" ] ; fhir:display [ fhir:v "Plectin-related limb-girdle muscular dystrophy R17" ] ] [ fhir:code [ fhir:v "254379" ] ; fhir:display [ fhir:v "Linear lichen planus" ] ] [ fhir:code [ fhir:v "254395" ] ; fhir:display [ fhir:v "Actinic lichen planus" ] ] [ fhir:code [ fhir:v "254411" ] ; fhir:display [ fhir:v "Annular atrophic lichen planus" ] ] [ fhir:code [ fhir:v "254424" ] ; fhir:display [ fhir:v "Annular lichen planus" ] ] [ fhir:code [ fhir:v "254449" ] ; fhir:display [ fhir:v "Atrophic lichen planus" ] ] [ fhir:code [ fhir:v "254463" ] ; fhir:display [ fhir:v "Lichen planus pigmentosus" ] ] [ fhir:code [ fhir:v "254478" ] ; fhir:display [ fhir:v "Lichen planus pemphigoides" ] ] [ fhir:code [ fhir:v "254492" ] ; fhir:display [ fhir:v "Frontal fibrosing alopecia" ] ] [ fhir:code [ fhir:v "254504" ] ; fhir:display [ fhir:v "Inhalational botulism" ] ] [ fhir:code [ fhir:v "254509" ] ; fhir:display [ fhir:v "Iatrogenic botulism" ] ] [ fhir:code [ fhir:v "254516" ] ; fhir:display [ fhir:v "Temple syndrome" ] ] [ fhir:code [ fhir:v "254519" ] ; fhir:display [ fhir:v "Kagami-Ogata syndrome" ] ] [ fhir:code [ fhir:v "254525" ] ; fhir:display [ fhir:v "Temple syndrome due to paternal 14q32.2 microdeletion" ] ] [ fhir:code [ fhir:v "254528" ] ; fhir:display [ fhir:v "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion" ] ] [ fhir:code [ fhir:v "254531" ] ; fhir:display [ fhir:v "Temple syndrome due to paternal 14q32.2 hypomethylation" ] ] [ fhir:code [ fhir:v "254534" ] ; fhir:display [ fhir:v "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation" ] ] [ fhir:code [ fhir:v "254688" ] ; fhir:display [ fhir:v "Complete hydatidiform mole" ] ] [ fhir:code [ fhir:v "254693" ] ; fhir:display [ fhir:v "Partial hydatidiform mole" ] ] [ fhir:code [ fhir:v "254698" ] ; fhir:display [ fhir:v "Epithelioid trophoblastic tumor" ] ] [ fhir:code [ fhir:v "2547" ] ; fhir:display [ fhir:v "Microphthalmia-microtia-fetal akinesia syndrome" ] ] [ fhir:code [ fhir:v "254704" ] ; fhir:display [ fhir:v "Genetic hyperferritinemia without iron overload" ] ] [ fhir:code [ fhir:v "254851" ] ; fhir:display [ fhir:v "Mitochondrial DNA-related dystonia" ] ] [ fhir:code [ fhir:v "254854" ] ; fhir:display [ fhir:v "Pure mitochondrial myopathy" ] ] [ fhir:code [ fhir:v "254857" ] ; fhir:display [ fhir:v "Lethal infantile mitochondrial myopathy" ] ] [ fhir:code [ fhir:v "254864" ] ; fhir:display [ fhir:v "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency" ] ] [ fhir:code [ fhir:v "254875" ] ; fhir:display [ fhir:v "Mitochondrial DNA depletion syndrome, myopathic form" ] ] [ fhir:code [ fhir:v "254881" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia with epilepsy" ] ] [ fhir:code [ fhir:v "254886" ] ; fhir:display [ fhir:v "Autosomal recessive progressive external ophthalmoplegia" ] ] [ fhir:code [ fhir:v "254892" ] ; fhir:display [ fhir:v "Autosomal dominant progressive external ophthalmoplegia" ] ] [ fhir:code [ fhir:v "254898" ] ; fhir:display [ fhir:v "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome" ] ] [ fhir:code [ fhir:v "2549" ] ; fhir:display [ fhir:v "Oculoauriculovertebral spectrum with radial defects" ] ] [ fhir:code [ fhir:v "254902" ] ; fhir:display [ fhir:v "Renal tubulopathy-encephalopathy-liver failure syndrome" ] ] [ fhir:code [ fhir:v "254905" ] ; fhir:display [ fhir:v "Isolated cytochrome C oxidase deficiency" ] ] [ fhir:code [ fhir:v "254913" ] ; fhir:display [ fhir:v "Isolated ATP synthase deficiency" ] ] [ fhir:code [ fhir:v "254920" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 2" ] ] [ fhir:code [ fhir:v "254925" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 4" ] ] [ fhir:code [ fhir:v "254930" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 7" ] ] [ fhir:code [ fhir:v "2551" ] ; fhir:display [ fhir:v "Microspherophakia-metaphyseal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "255132" ] ; fhir:display [ fhir:v "Adult-onset autosomal recessive sideroblastic anemia" ] ] [ fhir:code [ fhir:v "255138" ] ; fhir:display [ fhir:v "Pyruvate dehydrogenase E1-beta deficiency" ] ] [ fhir:code [ fhir:v "255182" ] ; fhir:display [ fhir:v "Pyruvate dehydrogenase E3-binding protein deficiency" ] ] [ fhir:code [ fhir:v "2552" ] ; fhir:display [ fhir:v "Microsporidiosis" ] ] [ fhir:code [ fhir:v "255210" ] ; fhir:display [ fhir:v "Mitochondrial DNA-associated Leigh syndrome" ] ] [ fhir:code [ fhir:v "255229" ] ; fhir:display [ fhir:v "Navajo neurohepatopathy" ] ] [ fhir:code [ fhir:v "255235" ] ; fhir:display [ fhir:v "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" ] ] [ fhir:code [ fhir:v "2554" ] ; fhir:display [ fhir:v "Ear-patella-short stature syndrome" ] ] [ fhir:code [ fhir:v "2556" ] ; fhir:display [ fhir:v "Microphthalmia with linear skin defects syndrome" ] ] [ fhir:code [ fhir:v "2557" ] ; fhir:display [ fhir:v "Mietens syndrome" ] ] [ fhir:code [ fhir:v "2558" ] ; fhir:display [ fhir:v "Mikati-Najjar-Sahli syndrome" ] ] [ fhir:code [ fhir:v "256" ] ; fhir:display [ fhir:v "Early-onset generalized limb-onset dystonia" ] ] [ fhir:code [ fhir:v "2560" ] ; fhir:display [ fhir:v "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "2561" ] ; fhir:display [ fhir:v "Pyramidal molars-abnormal upper lip syndrome" ] ] [ fhir:code [ fhir:v "2563" ] ; fhir:display [ fhir:v "MOMO syndrome" ] ] [ fhir:code [ fhir:v "2564" ] ; fhir:display [ fhir:v "Tetramelic monodactyly" ] ] [ fhir:code [ fhir:v "2565" ] ; fhir:display [ fhir:v "Mononen-Karnes-Senac syndrome" ] ] [ fhir:code [ fhir:v "2566" ] ; fhir:display [ fhir:v "Chronic Epstein-Barr virus infection syndrome" ] ] [ fhir:code [ fhir:v "257" ] ; fhir:display [ fhir:v "Epidermolysis bullosa simplex with muscular dystrophy" ] ] [ fhir:code [ fhir:v "2570" ] ; fhir:display [ fhir:v "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome" ] ] [ fhir:code [ fhir:v "2571" ] ; fhir:display [ fhir:v "X-linked immunoneurologic disorder" ] ] [ fhir:code [ fhir:v "2572" ] ; fhir:display [ fhir:v "Spastic ataxia-corneal dystrophy syndrome" ] ] [ fhir:code [ fhir:v "2573" ] ; fhir:display [ fhir:v "Moyamoya disease" ] ] [ fhir:code [ fhir:v "2574" ] ; fhir:display [ fhir:v "Moynahan syndrome" ] ] [ fhir:code [ fhir:v "2575" ] ; fhir:display [ fhir:v "Cystic fibrosis-gastritis-megaloblastic anemia syndrome" ] ] [ fhir:code [ fhir:v "2576" ] ; fhir:display [ fhir:v "Mulibrey nanism" ] ] [ fhir:code [ fhir:v "2578" ] ; fhir:display [ fhir:v "Mayer-Rokitansky-Küster-Hauser syndrome type 2" ] ] [ fhir:code [ fhir:v "2579" ] ; fhir:display [ fhir:v "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome" ] ] [ fhir:code [ fhir:v "258" ] ; fhir:display [ fhir:v "Laminin subunit alpha 2-related congenital muscular dystrophy" ] ] [ fhir:code [ fhir:v "2582" ] ; fhir:display [ fhir:v "Myalgia-eosinophilia syndrome associated with tryptophan" ] ] [ fhir:code [ fhir:v "2583" ] ; fhir:display [ fhir:v "Mycetoma" ] ] [ fhir:code [ fhir:v "2584" ] ; fhir:display [ fhir:v "Classic mycosis fungoides" ] ] [ fhir:code [ fhir:v "2585" ] ; fhir:display [ fhir:v "Ataxia-pancytopenia syndrome" ] ] [ fhir:code [ fhir:v "2587" ] ; fhir:display [ fhir:v "Myeloperoxidase deficiency" ] ] [ fhir:code [ fhir:v "2588" ] ; fhir:display [ fhir:v "Myhre syndrome" ] ] [ fhir:code [ fhir:v "2589" ] ; fhir:display [ fhir:v "Myoclonus-cerebellar ataxia-deafness syndrome" ] ] [ fhir:code [ fhir:v "2590" ] ; fhir:display [ fhir:v "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome" ] ] [ fhir:code [ fhir:v "2591" ] ; fhir:display [ fhir:v "Infantile myofibromatosis" ] ] [ fhir:code [ fhir:v "2593" ] ; fhir:display [ fhir:v "Tubular aggregate myopathy" ] ] [ fhir:code [ fhir:v "2596" ] ; fhir:display [ fhir:v "Myopathy and diabetes mellitus" ] ] [ fhir:code [ fhir:v "25968" ] ; fhir:display [ fhir:v "Benign occipital epilepsy" ] ] [ fhir:code [ fhir:v "2597" ] ; fhir:display [ fhir:v "Mitochondrial myopathy-lactic acidosis-deafness syndrome" ] ] [ fhir:code [ fhir:v "2598" ] ; fhir:display [ fhir:v "Mitochondrial myopathy and sideroblastic anemia" ] ] [ fhir:code [ fhir:v "25980" ] ; fhir:display [ fhir:v "X-linked myopathy with excessive autophagy" ] ] [ fhir:code [ fhir:v "26" ] ; fhir:display [ fhir:v "Methylmalonic acidemia with homocystinuria" ] ] [ fhir:code [ fhir:v "260305" ] ; fhir:display [ fhir:v "Autosomal recessive sideroblastic anemia" ] ] [ fhir:code [ fhir:v "2604" ] ; fhir:display [ fhir:v "Familial visceral myopathy" ] ] [ fhir:code [ fhir:v "2608" ] ; fhir:display [ fhir:v "N syndrome" ] ] [ fhir:code [ fhir:v "2609" ] ; fhir:display [ fhir:v "Isolated complex I deficiency" ] ] [ fhir:code [ fhir:v "261" ] ; fhir:display [ fhir:v "Emery-Dreifuss muscular dystrophy" ] ] [ fhir:code [ fhir:v "26106" ] ; fhir:display [ fhir:v "Hereditary diffuse gastric cancer" ] ] [ fhir:code [ fhir:v "2611" ] ; fhir:display [ fhir:v "Linear verrucous nevus syndrome" ] ] [ fhir:code [ fhir:v "261102" ] ; fhir:display [ fhir:v "Distal 7q11.23 microduplication syndrome" ] ] [ fhir:code [ fhir:v "261112" ] ; fhir:display [ fhir:v "Monosomy 9p" ] ] [ fhir:code [ fhir:v "261120" ] ; fhir:display [ fhir:v "14q11.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261144" ] ; fhir:display [ fhir:v "FOXG1 syndrome due to 14q12 microdeletion" ] ] [ fhir:code [ fhir:v "261183" ] ; fhir:display [ fhir:v "15q11.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261190" ] ; fhir:display [ fhir:v "15q14 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261197" ] ; fhir:display [ fhir:v "Proximal 16p11.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "2612" ] ; fhir:display [ fhir:v "Linear nevus sebaceus syndrome" ] ] [ fhir:code [ fhir:v "261204" ] ; fhir:display [ fhir:v "16p11.2p12.2 microduplication syndrome" ] ] [ fhir:code [ fhir:v "261211" ] ; fhir:display [ fhir:v "16p11.2p12.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261222" ] ; fhir:display [ fhir:v "Distal 16p11.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261229" ] ; fhir:display [ fhir:v "14q11.2 microduplication syndrome" ] ] [ fhir:code [ fhir:v "261236" ] ; fhir:display [ fhir:v "16p13.11 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261243" ] ; fhir:display [ fhir:v "16p13.11 microduplication syndrome" ] ] [ fhir:code [ fhir:v "261250" ] ; fhir:display [ fhir:v "16q24.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261257" ] ; fhir:display [ fhir:v "Distal 17p13.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261265" ] ; fhir:display [ fhir:v "17q12 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261272" ] ; fhir:display [ fhir:v "17q12 microduplication syndrome" ] ] [ fhir:code [ fhir:v "261279" ] ; fhir:display [ fhir:v "17q23.1q23.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261290" ] ; fhir:display [ fhir:v "Trisomy 17p" ] ] [ fhir:code [ fhir:v "261295" ] ; fhir:display [ fhir:v "20p12.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "2613" ] ; fhir:display [ fhir:v "Nail-patella-like renal disease" ] ] [ fhir:code [ fhir:v "261304" ] ; fhir:display [ fhir:v "Paternal 20q13.2q13.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261311" ] ; fhir:display [ fhir:v "20q13.33 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261318" ] ; fhir:display [ fhir:v "Trisomy 20p" ] ] [ fhir:code [ fhir:v "261323" ] ; fhir:display [ fhir:v "21q22.11q22.12 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261330" ] ; fhir:display [ fhir:v "Distal 22q11.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "261337" ] ; fhir:display [ fhir:v "Distal 22q11.2 microduplication syndrome" ] ] [ fhir:code [ fhir:v "261344" ] ; fhir:display [ fhir:v "Trisomy 1q" ] ] [ fhir:code [ fhir:v "261349" ] ; fhir:display [ fhir:v "2p15p16.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "26137" ] ; fhir:display [ fhir:v "Juvenile temporal arteritis" ] ] [ fhir:code [ fhir:v "2614" ] ; fhir:display [ fhir:v "Nail-patella syndrome" ] ] [ fhir:code [ fhir:v "261476" ] ; fhir:display [ fhir:v "Xp21 deletion syndrome" ] ] [ fhir:code [ fhir:v "261483" ] ; fhir:display [ fhir:v "Xq27.3q28 duplication syndrome" ] ] [ fhir:code [ fhir:v "261494" ] ; fhir:display [ fhir:v "Kleefstra syndrome" ] ] [ fhir:code [ fhir:v "261501" ] ; fhir:display [ fhir:v "Atypical Norrie disease due to Xp11.3 microdeletion" ] ] [ fhir:code [ fhir:v "261519" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome X" ] ] [ fhir:code [ fhir:v "261524" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome X" ] ] [ fhir:code [ fhir:v "261529" ] ; fhir:display [ fhir:v "Ring chromosome Y syndrome" ] ] [ fhir:code [ fhir:v "261534" ] ; fhir:display [ fhir:v "49,XXXYY syndrome" ] ] [ fhir:code [ fhir:v "261537" ] ; fhir:display [ fhir:v "Mowat-Wilson syndrome due to monosomy 2q22" ] ] [ fhir:code [ fhir:v "261552" ] ; fhir:display [ fhir:v "Mowat-Wilson syndrome due to a ZEB2 point mutation" ] ] [ fhir:code [ fhir:v "261584" ] ; fhir:display [ fhir:v "Familial adenomatous polyposis due to 5q22.2 microdeletion" ] ] [ fhir:code [ fhir:v "2616" ] ; fhir:display [ fhir:v "3M syndrome" ] ] [ fhir:code [ fhir:v "261600" ] ; fhir:display [ fhir:v "Alagille syndrome due to 20p12 microdeletion" ] ] [ fhir:code [ fhir:v "261619" ] ; fhir:display [ fhir:v "Alagille syndrome due to a JAG1 point mutation" ] ] [ fhir:code [ fhir:v "261629" ] ; fhir:display [ fhir:v "Alagille syndrome due to a NOTCH2 point mutation" ] ] [ fhir:code [ fhir:v "261638" ] ; fhir:display [ fhir:v "Okihiro syndrome due to 20q13 microdeletion" ] ] [ fhir:code [ fhir:v "261647" ] ; fhir:display [ fhir:v "Okihiro syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "261652" ] ; fhir:display [ fhir:v "Kleefstra syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "2617" ] ; fhir:display [ fhir:v "Microcephalic primordial dwarfism, Montreal type" ] ] [ fhir:code [ fhir:v "2619" ] ; fhir:display [ fhir:v "Brachydactylous dwarfism, Mseleni type" ] ] [ fhir:code [ fhir:v "2623" ] ; fhir:display [ fhir:v "Geleophysic dysplasia" ] ] [ fhir:code [ fhir:v "2631" ] ; fhir:display [ fhir:v "Mesomelic dwarfism-cleft palate-camptodactyly syndrome" ] ] [ fhir:code [ fhir:v "2632" ] ; fhir:display [ fhir:v "Langer mesomelic dysplasia" ] ] [ fhir:code [ fhir:v "263297" ] ; fhir:display [ fhir:v "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" ] ] [ fhir:code [ fhir:v "2633" ] ; fhir:display [ fhir:v "Mesomelic dysplasia, Nievergelt type" ] ] [ fhir:code [ fhir:v "263310" ] ; fhir:display [ fhir:v "Thymoma type A" ] ] [ fhir:code [ fhir:v "263317" ] ; fhir:display [ fhir:v "Thymoma type B" ] ] [ fhir:code [ fhir:v "263324" ] ; fhir:display [ fhir:v "Thymoma type AB" ] ] [ fhir:code [ fhir:v "263331" ] ; fhir:display [ fhir:v "Well-differentiated thymic neuroendocrine carcinoma" ] ] [ fhir:code [ fhir:v "263335" ] ; fhir:display [ fhir:v "Moderately-differentiated thymic neuroendocrine carcinoma" ] ] [ fhir:code [ fhir:v "263339" ] ; fhir:display [ fhir:v "Poorly differentiated thymic neuroendocrine carcinoma" ] ] [ fhir:code [ fhir:v "263347" ] ; fhir:display [ fhir:v "MRCS syndrome" ] ] [ fhir:code [ fhir:v "263352" ] ; fhir:display [ fhir:v "Postcardiotomy right ventricular failure" ] ] [ fhir:code [ fhir:v "2634" ] ; fhir:display [ fhir:v "Mesomelic dwarfism, Reinhardt-Pfeiffer type" ] ] [ fhir:code [ fhir:v "263410" ] ; fhir:display [ fhir:v "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" ] ] [ fhir:code [ fhir:v "263413" ] ; fhir:display [ fhir:v "Angiosarcoma" ] ] [ fhir:code [ fhir:v "263425" ] ; fhir:display [ fhir:v "Nevus of Ota" ] ] [ fhir:code [ fhir:v "263432" ] ; fhir:display [ fhir:v "Nevus of Ito" ] ] [ fhir:code [ fhir:v "263435" ] ; fhir:display [ fhir:v "Congenital smooth muscle hamartoma" ] ] [ fhir:code [ fhir:v "263455" ] ; fhir:display [ fhir:v "Congenital hyperinsulinism due to HNF4A deficiency" ] ] [ fhir:code [ fhir:v "263458" ] ; fhir:display [ fhir:v "Hyperinsulinism due to INSR deficiency" ] ] [ fhir:code [ fhir:v "263463" ] ; fhir:display [ fhir:v "CHST3-related skeletal dysplasia" ] ] [ fhir:code [ fhir:v "263479" ] ; fhir:display [ fhir:v "Fuchs heterochromic iridocyclitis" ] ] [ fhir:code [ fhir:v "26348" ] ; fhir:display [ fhir:v "Acquired prothrombin deficiency" ] ] [ fhir:code [ fhir:v "263482" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia, Maroteaux type" ] ] [ fhir:code [ fhir:v "263487" ] ; fhir:display [ fhir:v "COG5-CDG" ] ] [ fhir:code [ fhir:v "26349" ] ; fhir:display [ fhir:v "Protein S acquired deficiency" ] ] [ fhir:code [ fhir:v "263494" ] ; fhir:display [ fhir:v "DPM3-CDG" ] ] [ fhir:code [ fhir:v "2635" ] ; fhir:display [ fhir:v "Metatropic dysplasia" ] ] [ fhir:code [ fhir:v "263501" ] ; fhir:display [ fhir:v "COG4-CDG" ] ] [ fhir:code [ fhir:v "263508" ] ; fhir:display [ fhir:v "COG1-CDG" ] ] [ fhir:code [ fhir:v "263516" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy type 3" ] ] [ fhir:code [ fhir:v "263524" ] ; fhir:display [ fhir:v "Acute necrotizing encephalopathy of childhood" ] ] [ fhir:code [ fhir:v "263534" ] ; fhir:display [ fhir:v "Acral peeling skin syndrome" ] ] [ fhir:code [ fhir:v "263543" ] ; fhir:display [ fhir:v "Generalized peeling skin syndrome" ] ] [ fhir:code [ fhir:v "263548" ] ; fhir:display [ fhir:v "Peeling skin syndrome type A" ] ] [ fhir:code [ fhir:v "263553" ] ; fhir:display [ fhir:v "Peeling skin syndrome type B" ] ] [ fhir:code [ fhir:v "2636" ] ; fhir:display [ fhir:v "Microcephalic osteodysplastic primordial dwarfism types I and III" ] ] [ fhir:code [ fhir:v "263662" ] ; fhir:display [ fhir:v "Familial multiple meningioma" ] ] [ fhir:code [ fhir:v "263665" ] ; fhir:display [ fhir:v "NK-cell enteropathy" ] ] [ fhir:code [ fhir:v "2637" ] ; fhir:display [ fhir:v "Microcephalic osteodysplastic primordial dwarfism type II" ] ] [ fhir:code [ fhir:v "2639" ] ; fhir:display [ fhir:v "Fibular aplasia-complex brachydactyly syndrome" ] ] [ fhir:code [ fhir:v "264200" ] ; fhir:display [ fhir:v "14q22q23 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "2643" ] ; fhir:display [ fhir:v "Microcephalic primordial dwarfism, Toriello type" ] ] [ fhir:code [ fhir:v "264450" ] ; fhir:display [ fhir:v "Trisomy 8p" ] ] [ fhir:code [ fhir:v "2645" ] ; fhir:display [ fhir:v "Osteoglosphonic dysplasia" ] ] [ fhir:code [ fhir:v "264580" ] ; fhir:display [ fhir:v "Glycogen storage disease due to liver phosphorylase kinase deficiency" ] ] [ fhir:code [ fhir:v "2646" ] ; fhir:display [ fhir:v "Parastremmatic dwarfism" ] ] [ fhir:code [ fhir:v "264675" ] ; fhir:display [ fhir:v "Hereditary pulmonary alveolar proteinosis" ] ] [ fhir:code [ fhir:v "264688" ] ; fhir:display [ fhir:v "Congenital chylothorax" ] ] [ fhir:code [ fhir:v "264691" ] ; fhir:display [ fhir:v "Isolated pulmonary capillaritis" ] ] [ fhir:code [ fhir:v "264978" ] ; fhir:display [ fhir:v "Drug or radiation exposure-related interstitial lung disease" ] ] [ fhir:code [ fhir:v "2653" ] ; fhir:display [ fhir:v "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome" ] ] [ fhir:code [ fhir:v "2655" ] ; fhir:display [ fhir:v "Thanatophoric dysplasia" ] ] [ fhir:code [ fhir:v "2658" ] ; fhir:display [ fhir:v "Lenz-Majewski hyperostotic dwarfism" ] ] [ fhir:code [ fhir:v "266" ] ; fhir:display [ fhir:v "Autosomal dominant limb-girdle muscular dystrophy type 1A" ] ] [ fhir:code [ fhir:v "2662" ] ; fhir:display [ fhir:v "Keipert syndrome" ] ] [ fhir:code [ fhir:v "2663" ] ; fhir:display [ fhir:v "Nathalie syndrome" ] ] [ fhir:code [ fhir:v "2665" ] ; fhir:display [ fhir:v "Congenital mesoblastic nephroma" ] ] [ fhir:code [ fhir:v "2666" ] ; fhir:display [ fhir:v "Adult familial nephronophthisis-spastic quadriparesia syndrome" ] ] [ fhir:code [ fhir:v "2668" ] ; fhir:display [ fhir:v "Nephropathy-deafness-hyperparathyroidism syndrome" ] ] [ fhir:code [ fhir:v "2669" ] ; fhir:display [ fhir:v "Nephrosis-deafness-urinary tract-digital malformations syndrome" ] ] [ fhir:code [ fhir:v "267" ] ; fhir:display [ fhir:v "Calpain-3-related limb-girdle muscular dystrophy R1" ] ] [ fhir:code [ fhir:v "2670" ] ; fhir:display [ fhir:v "Pierson syndrome" ] ] [ fhir:code [ fhir:v "2671" ] ; fhir:display [ fhir:v "Neu-Laxova syndrome" ] ] [ fhir:code [ fhir:v "2672" ] ; fhir:display [ fhir:v "Neuhauser-Eichner-Opitz syndrome" ] ] [ fhir:code [ fhir:v "2673" ] ; fhir:display [ fhir:v "Neurofaciodigitorenal syndrome" ] ] [ fhir:code [ fhir:v "2674" ] ; fhir:display [ fhir:v "Cyprus facial-neuromusculoskeletal syndrome" ] ] [ fhir:code [ fhir:v "2678" ] ; fhir:display [ fhir:v "Familial isolated café-au-lait macules" ] ] [ fhir:code [ fhir:v "26790" ] ; fhir:display [ fhir:v "Pseudomyxoma peritonei" ] ] [ fhir:code [ fhir:v "26791" ] ; fhir:display [ fhir:v "Multiple acyl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "26792" ] ; fhir:display [ fhir:v "Short chain acyl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "26793" ] ; fhir:display [ fhir:v "Very long chain acyl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "268" ] ; fhir:display [ fhir:v "Dysferlin-related limb-girdle muscular dystrophy R2" ] ] [ fhir:code [ fhir:v "2680" ] ; fhir:display [ fhir:v "Hypomyelination neuropathy-arthrogryposis syndrome" ] ] [ fhir:code [ fhir:v "268114" ] ; fhir:display [ fhir:v "RAS-associated autoimmune leukoproliferative disease" ] ] [ fhir:code [ fhir:v "268129" ] ; fhir:display [ fhir:v "Spheroid body myopathy" ] ] [ fhir:code [ fhir:v "268139" ] ; fhir:display [ fhir:v "Intraocular medulloepithelioma" ] ] [ fhir:code [ fhir:v "268145" ] ; fhir:display [ fhir:v "Classic maple syrup urine disease" ] ] [ fhir:code [ fhir:v "268162" ] ; fhir:display [ fhir:v "Intermediate maple syrup urine disease" ] ] [ fhir:code [ fhir:v "268173" ] ; fhir:display [ fhir:v "Intermittent maple syrup urine disease" ] ] [ fhir:code [ fhir:v "268184" ] ; fhir:display [ fhir:v "Thiamine-responsive maple syrup urine disease" ] ] [ fhir:code [ fhir:v "268249" ] ; fhir:display [ fhir:v "Mycophenolate mofetil embryopathy" ] ] [ fhir:code [ fhir:v "268261" ] ; fhir:display [ fhir:v "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion" ] ] [ fhir:code [ fhir:v "268316" ] ; fhir:display [ fhir:v "Complication in hemodialysis" ] ] [ fhir:code [ fhir:v "268322" ] ; fhir:display [ fhir:v "Hereditary thrombocytopenia with normal platelets" ] ] [ fhir:code [ fhir:v "268363" ] ; fhir:display [ fhir:v "Open iniencephaly" ] ] [ fhir:code [ fhir:v "268366" ] ; fhir:display [ fhir:v "Closed iniencephaly" ] ] [ fhir:code [ fhir:v "2686" ] ; fhir:display [ fhir:v "Cyclic neutropenia" ] ] [ fhir:code [ fhir:v "2688" ] ; fhir:display [ fhir:v "Adult idiopathic neutropenia" ] ] [ fhir:code [ fhir:v "268810" ] ; fhir:display [ fhir:v "Isolated posterior meningocele" ] ] [ fhir:code [ fhir:v "268820" ] ; fhir:display [ fhir:v "Cranial meningocele" ] ] [ fhir:code [ fhir:v "268823" ] ; fhir:display [ fhir:v "Occipital encephalocele" ] ] [ fhir:code [ fhir:v "268826" ] ; fhir:display [ fhir:v "Parietal encephalocele" ] ] [ fhir:code [ fhir:v "268829" ] ; fhir:display [ fhir:v "Basal encephalocele" ] ] [ fhir:code [ fhir:v "268861" ] ; fhir:display [ fhir:v "Primary tethered cord syndrome" ] ] [ fhir:code [ fhir:v "268865" ] ; fhir:display [ fhir:v "Neurenteric cyst" ] ] [ fhir:code [ fhir:v "268868" ] ; fhir:display [ fhir:v "Isolated amyelia" ] ] [ fhir:code [ fhir:v "268882" ] ; fhir:display [ fhir:v "Arnold-Chiari malformation type I" ] ] [ fhir:code [ fhir:v "268920" ] ; fhir:display [ fhir:v "Isolated megalencephaly" ] ] [ fhir:code [ fhir:v "268936" ] ; fhir:display [ fhir:v "Isolated arhinencephaly" ] ] [ fhir:code [ fhir:v "268940" ] ; fhir:display [ fhir:v "Bilateral polymicrogyria" ] ] [ fhir:code [ fhir:v "268943" ] ; fhir:display [ fhir:v "Unilateral polymicrogyria" ] ] [ fhir:code [ fhir:v "268947" ] ; fhir:display [ fhir:v "Unilateral focal polymicrogyria" ] ] [ fhir:code [ fhir:v "268961" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia type I" ] ] [ fhir:code [ fhir:v "268973" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia type Ia" ] ] [ fhir:code [ fhir:v "268980" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia type Ib" ] ] [ fhir:code [ fhir:v "268987" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia type Ic" ] ] [ fhir:code [ fhir:v "268994" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia type II" ] ] [ fhir:code [ fhir:v "269" ] ; fhir:display [ fhir:v "Facioscapulohumeral dystrophy" ] ] [ fhir:code [ fhir:v "2690" ] ; fhir:display [ fhir:v "Neutropenia-monocytopenia-deafness syndrome" ] ] [ fhir:code [ fhir:v "269001" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia type IIa" ] ] [ fhir:code [ fhir:v "269008" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia type IIb" ] ] [ fhir:code [ fhir:v "269197" ] ; fhir:display [ fhir:v "Glioependymal/ependymal cyst" ] ] [ fhir:code [ fhir:v "269203" ] ; fhir:display [ fhir:v "Isolated cerebellar vermis agenesis" ] ] [ fhir:code [ fhir:v "269206" ] ; fhir:display [ fhir:v "Isolated total cerebellar vermis agenesis" ] ] [ fhir:code [ fhir:v "269209" ] ; fhir:display [ fhir:v "Isolated partial cerebellar vermis agenesis" ] ] [ fhir:code [ fhir:v "269212" ] ; fhir:display [ fhir:v "Isolated Dandy-Walker malformation with hydrocephalus" ] ] [ fhir:code [ fhir:v "269215" ] ; fhir:display [ fhir:v "Isolated Dandy-Walker malformation without hydrocephalus" ] ] [ fhir:code [ fhir:v "269218" ] ; fhir:display [ fhir:v "Isolated unilateral hemispheric cerebellar hypoplasia" ] ] [ fhir:code [ fhir:v "269221" ] ; fhir:display [ fhir:v "Isolated bilateral hemispheric cerebellar hypoplasia" ] ] [ fhir:code [ fhir:v "269229" ] ; fhir:display [ fhir:v "Pontine tegmental cap dysplasia" ] ] [ fhir:code [ fhir:v "2695" ] ; fhir:display [ fhir:v "Bifid nose" ] ] [ fhir:code [ fhir:v "269505" ] ; fhir:display [ fhir:v "Congenital communicating hydrocephalus" ] ] [ fhir:code [ fhir:v "269510" ] ; fhir:display [ fhir:v "Congenital non-communicating hydrocephalus" ] ] [ fhir:code [ fhir:v "2697" ] ; fhir:display [ fhir:v "Arthrogryposis-renal dysfunction-cholestasis syndrome" ] ] [ fhir:code [ fhir:v "2698" ] ; fhir:display [ fhir:v "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" ] ] [ fhir:code [ fhir:v "2699" ] ; fhir:display [ fhir:v "Median nodule of the upper lip" ] ] [ fhir:code [ fhir:v "27" ] ; fhir:display [ fhir:v "Vitamin B12-unresponsive methylmalonic acidemia" ] ] [ fhir:code [ fhir:v "270" ] ; fhir:display [ fhir:v "Oculopharyngeal muscular dystrophy" ] ] [ fhir:code [ fhir:v "2700" ] ; fhir:display [ fhir:v "Noma" ] ] [ fhir:code [ fhir:v "2701" ] ; fhir:display [ fhir:v "Noonan syndrome-like disorder with loose anagen hair" ] ] [ fhir:code [ fhir:v "2703" ] ; fhir:display [ fhir:v "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome" ] ] [ fhir:code [ fhir:v "2704" ] ; fhir:display [ fhir:v "Ochoa syndrome" ] ] [ fhir:code [ fhir:v "2707" ] ; fhir:display [ fhir:v "Oculocerebrofacial syndrome, Kaufman type" ] ] [ fhir:code [ fhir:v "2709" ] ; fhir:display [ fhir:v "Oculodental syndrome, Rutherfurd type" ] ] [ fhir:code [ fhir:v "2710" ] ; fhir:display [ fhir:v "Oculodentodigital dysplasia" ] ] [ fhir:code [ fhir:v "2712" ] ; fhir:display [ fhir:v "Oculofaciocardiodental syndrome" ] ] [ fhir:code [ fhir:v "2713" ] ; fhir:display [ fhir:v "Oculoosteocutaneous syndrome" ] ] [ fhir:code [ fhir:v "2714" ] ; fhir:display [ fhir:v "Oculo-palato-cerebral syndrome" ] ] [ fhir:code [ fhir:v "2715" ] ; fhir:display [ fhir:v "Severe oculo-renal-cerebellar syndrome" ] ] [ fhir:code [ fhir:v "2717" ] ; fhir:display [ fhir:v "Oculotrichoanal syndrome" ] ] [ fhir:code [ fhir:v "2718" ] ; fhir:display [ fhir:v "Oculotrichodysplasia" ] ] [ fhir:code [ fhir:v "2719" ] ; fhir:display [ fhir:v "Oculocerebral hypopigmentation syndrome, Cross type" ] ] [ fhir:code [ fhir:v "272" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy, Fukuyama type" ] ] [ fhir:code [ fhir:v "2720" ] ; fhir:display [ fhir:v "Oculocerebral hypopigmentation syndrome, Preus type" ] ] [ fhir:code [ fhir:v "2721" ] ; fhir:display [ fhir:v "Odonto-onycho-dermal dysplasia" ] ] [ fhir:code [ fhir:v "2722" ] ; fhir:display [ fhir:v "Odonto-onycho dysplasia-alopecia syndrome" ] ] [ fhir:code [ fhir:v "2723" ] ; fhir:display [ fhir:v "Odontotrichomelic syndrome" ] ] [ fhir:code [ fhir:v "2724" ] ; fhir:display [ fhir:v "Odontomatosis-aortae esophagus stenosis syndrome" ] ] [ fhir:code [ fhir:v "2728" ] ; fhir:display [ fhir:v "Blepharophimosis-intellectual disability syndrome, Ohdo type" ] ] [ fhir:code [ fhir:v "2729" ] ; fhir:display [ fhir:v "Okamoto syndrome" ] ] [ fhir:code [ fhir:v "273" ] ; fhir:display [ fhir:v "Steinert myotonic dystrophy" ] ] [ fhir:code [ fhir:v "2730" ] ; fhir:display [ fhir:v "Postaxial tetramelic oligodactyly" ] ] [ fhir:code [ fhir:v "2732" ] ; fhir:display [ fhir:v "Olivopontocerebellar atrophy-deafness syndrome" ] ] [ fhir:code [ fhir:v "2733" ] ; fhir:display [ fhir:v "Omodysplasia" ] ] [ fhir:code [ fhir:v "2736" ] ; fhir:display [ fhir:v "Lethal omphalocele-cleft palate syndrome" ] ] [ fhir:code [ fhir:v "2737" ] ; fhir:display [ fhir:v "Onchocerciasis" ] ] [ fhir:code [ fhir:v "274" ] ; fhir:display [ fhir:v "Bernard-Soulier syndrome" ] ] [ fhir:code [ fhir:v "2741" ] ; fhir:display [ fhir:v "Ophthalmomandibulomelic dysplasia" ] ] [ fhir:code [ fhir:v "2743" ] ; fhir:display [ fhir:v "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" ] ] [ fhir:code [ fhir:v "2744" ] ; fhir:display [ fhir:v "Horizontal gaze palsy with progressive scoliosis" ] ] [ fhir:code [ fhir:v "2745" ] ; fhir:display [ fhir:v "Opitz GBBB syndrome" ] ] [ fhir:code [ fhir:v "2746" ] ; fhir:display [ fhir:v "Opsismodysplasia" ] ] [ fhir:code [ fhir:v "275" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to DCLRE1C deficiency" ] ] [ fhir:code [ fhir:v "2750" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 1" ] ] [ fhir:code [ fhir:v "2751" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 2" ] ] [ fhir:code [ fhir:v "2752" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 3" ] ] [ fhir:code [ fhir:v "2753" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 4" ] ] [ fhir:code [ fhir:v "2754" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 6" ] ] [ fhir:code [ fhir:v "2755" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 8" ] ] [ fhir:code [ fhir:v "275517" ] ; fhir:display [ fhir:v "Autoimmune lymphoproliferative syndrome with recurrent viral infections" ] ] [ fhir:code [ fhir:v "275523" ] ; fhir:display [ fhir:v "Dianzani autoimmune lymphoproliferative disease" ] ] [ fhir:code [ fhir:v "275543" ] ; fhir:display [ fhir:v "L1 syndrome" ] ] [ fhir:code [ fhir:v "275555" ] ; fhir:display [ fhir:v "Preeclampsia" ] ] [ fhir:code [ fhir:v "2756" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 10" ] ] [ fhir:code [ fhir:v "275761" ] ; fhir:display [ fhir:v "Lysosomal acid lipase deficiency" ] ] [ fhir:code [ fhir:v "275766" ] ; fhir:display [ fhir:v "Idiopathic pulmonary arterial hypertension" ] ] [ fhir:code [ fhir:v "275777" ] ; fhir:display [ fhir:v "Heritable pulmonary arterial hypertension" ] ] [ fhir:code [ fhir:v "275864" ] ; fhir:display [ fhir:v "Behavioral variant of frontotemporal dementia" ] ] [ fhir:code [ fhir:v "275872" ] ; fhir:display [ fhir:v "Frontotemporal dementia with motor neuron disease" ] ] [ fhir:code [ fhir:v "2759" ] ; fhir:display [ fhir:v "Imperforate oropharynx-costovertebral anomalies syndrome" ] ] [ fhir:code [ fhir:v "275944" ] ; fhir:display [ fhir:v "Hemolytic disease of the newborn with Kell alloimmunization" ] ] [ fhir:code [ fhir:v "276" ] ; fhir:display [ fhir:v "T-B+ severe combined immunodeficiency due to gamma chain deficiency" ] ] [ fhir:code [ fhir:v "2760" ] ; fhir:display [ fhir:v "OSLAM syndrome" ] ] [ fhir:code [ fhir:v "276066" ] ; fhir:display [ fhir:v "Bile acid CoA ligase deficiency and defective amidation" ] ] [ fhir:code [ fhir:v "276145" ] ; fhir:display [ fhir:v "Malignant epithelial tumor of salivary glands" ] ] [ fhir:code [ fhir:v "276148" ] ; fhir:display [ fhir:v "Benign epithelial tumor of salivary glands" ] ] [ fhir:code [ fhir:v "276152" ] ; fhir:display [ fhir:v "Multiple endocrine neoplasia type 4" ] ] [ fhir:code [ fhir:v "276174" ] ; fhir:display [ fhir:v "Idiopathic recurrent stupor" ] ] [ fhir:code [ fhir:v "276183" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 32" ] ] [ fhir:code [ fhir:v "276193" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 35" ] ] [ fhir:code [ fhir:v "276198" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 36" ] ] [ fhir:code [ fhir:v "2762" ] ; fhir:display [ fhir:v "Progressive osseous heteroplasia" ] ] [ fhir:code [ fhir:v "276212" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 6, rapidly progressing" ] ] [ fhir:code [ fhir:v "276223" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 6, slowly progressing" ] ] [ fhir:code [ fhir:v "276234" ] ; fhir:display [ fhir:v "Non-syndromic male infertility due to sperm motility disorder" ] ] [ fhir:code [ fhir:v "276238" ] ; fhir:display [ fhir:v "Machado-Joseph disease type 1" ] ] [ fhir:code [ fhir:v "276241" ] ; fhir:display [ fhir:v "Machado-Joseph disease type 2" ] ] [ fhir:code [ fhir:v "276244" ] ; fhir:display [ fhir:v "Machado-Joseph disease type 3" ] ] [ fhir:code [ fhir:v "276280" ] ; fhir:display [ fhir:v "Hemihyperplasia-multiple lipomatosis syndrome" ] ] [ fhir:code [ fhir:v "2763" ] ; fhir:display [ fhir:v "Osteocraniostenosis" ] ] [ fhir:code [ fhir:v "276399" ] ; fhir:display [ fhir:v "Familial multinodular goiter" ] ] [ fhir:code [ fhir:v "2764" ] ; fhir:display [ fhir:v "Osteochondritis dissecans" ] ] [ fhir:code [ fhir:v "276405" ] ; fhir:display [ fhir:v "Hyperbiliverdinemia" ] ] [ fhir:code [ fhir:v "276413" ] ; fhir:display [ fhir:v "10q22.3q23.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "276422" ] ; fhir:display [ fhir:v "10q22.3q23.3 microduplication syndrome" ] ] [ fhir:code [ fhir:v "276429" ] ; fhir:display [ fhir:v "Hypnic headache" ] ] [ fhir:code [ fhir:v "276432" ] ; fhir:display [ fhir:v "Ogden syndrome" ] ] [ fhir:code [ fhir:v "276435" ] ; fhir:display [ fhir:v "Lower motor neuron syndrome with late-adult onset" ] ] [ fhir:code [ fhir:v "276556" ] ; fhir:display [ fhir:v "Hyperinsulinism due to UCP2 deficiency" ] ] [ fhir:code [ fhir:v "276575" ] ; fhir:display [ fhir:v "Autosomal dominant hyperinsulinism due to SUR1 deficiency" ] ] [ fhir:code [ fhir:v "276580" ] ; fhir:display [ fhir:v "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency" ] ] [ fhir:code [ fhir:v "276598" ] ; fhir:display [ fhir:v "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency" ] ] [ fhir:code [ fhir:v "276603" ] ; fhir:display [ fhir:v "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" ] ] [ fhir:code [ fhir:v "276608" ] ; fhir:display [ fhir:v "Non-insulinoma pancreatogenous hypoglycemia syndrome" ] ] [ fhir:code [ fhir:v "276621" ] ; fhir:display [ fhir:v "Sporadic pheochromocytoma/secreting paraganglioma" ] ] [ fhir:code [ fhir:v "276630" ] ; fhir:display [ fhir:v "Symptomatic form of Coffin-Lowry syndrome in female carriers" ] ] [ fhir:code [ fhir:v "2767" ] ; fhir:display [ fhir:v "Carpotarsal osteochondromatosis" ] ] [ fhir:code [ fhir:v "2768" ] ; fhir:display [ fhir:v "Blount disease" ] ] [ fhir:code [ fhir:v "2769" ] ; fhir:display [ fhir:v "Familial osteodysplasia, Anderson type" ] ] [ fhir:code [ fhir:v "277" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to adenosine deaminase deficiency" ] ] [ fhir:code [ fhir:v "2770" ] ; fhir:display [ fhir:v "Nasu-Hakola disease" ] ] [ fhir:code [ fhir:v "2771" ] ; fhir:display [ fhir:v "Bruck syndrome" ] ] [ fhir:code [ fhir:v "2772" ] ; fhir:display [ fhir:v "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome" ] ] [ fhir:code [ fhir:v "2773" ] ; fhir:display [ fhir:v "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2774" ] ; fhir:display [ fhir:v "Multicentric carpo-tarsal osteolysis with or without nephropathy" ] ] [ fhir:code [ fhir:v "2776" ] ; fhir:display [ fhir:v "Autosomal recessive distal osteolysis syndrome" ] ] [ fhir:code [ fhir:v "2777" ] ; fhir:display [ fhir:v "Osteomesopyknosis" ] ] [ fhir:code [ fhir:v "2779" ] ; fhir:display [ fhir:v "Osteopathia striata-pigmentary dermopathy-white forelock syndrome" ] ] [ fhir:code [ fhir:v "2780" ] ; fhir:display [ fhir:v "Osteopathia striata-cranial sclerosis syndrome" ] ] [ fhir:code [ fhir:v "2783" ] ; fhir:display [ fhir:v "Autosomal dominant osteopetrosis type 1" ] ] [ fhir:code [ fhir:v "2785" ] ; fhir:display [ fhir:v "Osteopetrosis with renal tubular acidosis" ] ] [ fhir:code [ fhir:v "2786" ] ; fhir:display [ fhir:v "Osteoporosis-oculocutaneous hypopigmentation syndrome" ] ] [ fhir:code [ fhir:v "2787" ] ; fhir:display [ fhir:v "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome" ] ] [ fhir:code [ fhir:v "2788" ] ; fhir:display [ fhir:v "Osteoporosis-pseudoglioma syndrome" ] ] [ fhir:code [ fhir:v "2789" ] ; fhir:display [ fhir:v "Lateral meningocele syndrome" ] ] [ fhir:code [ fhir:v "2790" ] ; fhir:display [ fhir:v "Endosteal hyperostosis, Worth type" ] ] [ fhir:code [ fhir:v "2791" ] ; fhir:display [ fhir:v "Otodental syndrome" ] ] [ fhir:code [ fhir:v "2792" ] ; fhir:display [ fhir:v "Otofaciocervical syndrome" ] ] [ fhir:code [ fhir:v "2793" ] ; fhir:display [ fhir:v "Otoonychoperoneal syndrome" ] ] [ fhir:code [ fhir:v "2795" ] ; fhir:display [ fhir:v "Fowler urethral sphincter dysfunction syndrome" ] ] [ fhir:code [ fhir:v "2796" ] ; fhir:display [ fhir:v "Pachydermoperiostosis" ] ] [ fhir:code [ fhir:v "2798" ] ; fhir:display [ fhir:v "Pachygyria-intellectual disability-epilepsy syndrome" ] ] [ fhir:code [ fhir:v "279882" ] ; fhir:display [ fhir:v "Spasmus nutans" ] ] [ fhir:code [ fhir:v "279888" ] ; fhir:display [ fhir:v "Acute endophthalmitis" ] ] [ fhir:code [ fhir:v "279891" ] ; fhir:display [ fhir:v "Chronic endophthalmitis" ] ] [ fhir:code [ fhir:v "279894" ] ; fhir:display [ fhir:v "Toxic maculopathy due to antimalarial drugs" ] ] [ fhir:code [ fhir:v "279897" ] ; fhir:display [ fhir:v "Primary oculocerebral lymphoma" ] ] [ fhir:code [ fhir:v "279904" ] ; fhir:display [ fhir:v "Primary intraocular lymphoma" ] ] [ fhir:code [ fhir:v "279914" ] ; fhir:display [ fhir:v "Intermediate uveitis" ] ] [ fhir:code [ fhir:v "279919" ] ; fhir:display [ fhir:v "Infectious posterior uveitis" ] ] [ fhir:code [ fhir:v "279922" ] ; fhir:display [ fhir:v "Infectious anterior uveitis" ] ] [ fhir:code [ fhir:v "279925" ] ; fhir:display [ fhir:v "Infectious panuveitis" ] ] [ fhir:code [ fhir:v "279928" ] ; fhir:display [ fhir:v "Paraneoplastic uveitis" ] ] [ fhir:code [ fhir:v "279934" ] ; fhir:display [ fhir:v "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" ] ] [ fhir:code [ fhir:v "279943" ] ; fhir:display [ fhir:v "Hereditary neutrophilia" ] ] [ fhir:code [ fhir:v "279947" ] ; fhir:display [ fhir:v "Postorgasmic illness syndrome" ] ] [ fhir:code [ fhir:v "28" ] ; fhir:display [ fhir:v "Vitamin B12-responsive methylmalonic acidemia" ] ] [ fhir:code [ fhir:v "280" ] ; fhir:display [ fhir:v "Wolf-Hirschhorn syndrome" ] ] [ fhir:code [ fhir:v "2800" ] ; fhir:display [ fhir:v "Extramammary Paget disease" ] ] [ fhir:code [ fhir:v "280062" ] ; fhir:display [ fhir:v "Calciphylaxis" ] ] [ fhir:code [ fhir:v "280065" ] ; fhir:display [ fhir:v "Calciphylaxis cutis" ] ] [ fhir:code [ fhir:v "280068" ] ; fhir:display [ fhir:v "Visceral calciphylaxis" ] ] [ fhir:code [ fhir:v "280071" ] ; fhir:display [ fhir:v "ALG11-CDG" ] ] [ fhir:code [ fhir:v "2801" ] ; fhir:display [ fhir:v "Juvenile Paget disease" ] ] [ fhir:code [ fhir:v "280133" ] ; fhir:display [ fhir:v "Complement component 3 deficiency" ] ] [ fhir:code [ fhir:v "280142" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to LCK deficiency" ] ] [ fhir:code [ fhir:v "280183" ] ; fhir:display [ fhir:v "Methylmalonic aciduria due to transcobalamin receptor defect" ] ] [ fhir:code [ fhir:v "280195" ] ; fhir:display [ fhir:v "Septopreoptic holoprosencephaly" ] ] [ fhir:code [ fhir:v "2802" ] ; fhir:display [ fhir:v "X-linked sideroblastic anemia and spinocerebellar ataxia" ] ] [ fhir:code [ fhir:v "280200" ] ; fhir:display [ fhir:v "Microform holoprosencephaly" ] ] [ fhir:code [ fhir:v "280205" ] ; fhir:display [ fhir:v "Laryngotracheoesophageal cleft type 0" ] ] [ fhir:code [ fhir:v "280210" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher disease, connatal form" ] ] [ fhir:code [ fhir:v "280219" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher disease, classic form" ] ] [ fhir:code [ fhir:v "280224" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher disease, transitional form" ] ] [ fhir:code [ fhir:v "280229" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher disease in female carriers" ] ] [ fhir:code [ fhir:v "280234" ] ; fhir:display [ fhir:v "Null syndrome" ] ] [ fhir:code [ fhir:v "280270" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher-like disease" ] ] [ fhir:code [ fhir:v "280282" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" ] ] [ fhir:code [ fhir:v "280288" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" ] ] [ fhir:code [ fhir:v "280293" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" ] ] [ fhir:code [ fhir:v "280302" ] ; fhir:display [ fhir:v "Autoimmune pancreatitis type 1" ] ] [ fhir:code [ fhir:v "280315" ] ; fhir:display [ fhir:v "Autoimmune pancreatitis type 2" ] ] [ fhir:code [ fhir:v "280325" ] ; fhir:display [ fhir:v "Distal deletion 12p" ] ] [ fhir:code [ fhir:v "280333" ] ; fhir:display [ fhir:v "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16" ] ] [ fhir:code [ fhir:v "280356" ] ; fhir:display [ fhir:v "PLIN1-related familial partial lipodystrophy" ] ] [ fhir:code [ fhir:v "280365" ] ; fhir:display [ fhir:v "Autosomal semi-dominant severe lipodystrophic laminopathy" ] ] [ fhir:code [ fhir:v "280379" ] ; fhir:display [ fhir:v "Erythropoietic uroporphyria associated with myeloid malignancy" ] ] [ fhir:code [ fhir:v "280384" ] ; fhir:display [ fhir:v "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" ] ] [ fhir:code [ fhir:v "280397" ] ; fhir:display [ fhir:v "Familial Alzheimer-like prion disease" ] ] [ fhir:code [ fhir:v "2804" ] ; fhir:display [ fhir:v "W syndrome" ] ] [ fhir:code [ fhir:v "280403" ] ; fhir:display [ fhir:v "Familial omphalocele syndrome with facial dysmorphism" ] ] [ fhir:code [ fhir:v "280406" ] ; fhir:display [ fhir:v "Familial steroid-resistant nephrotic syndrome with sensorineural deafness" ] ] [ fhir:code [ fhir:v "2805" ] ; fhir:display [ fhir:v "Partial pancreatic agenesis" ] ] [ fhir:code [ fhir:v "280553" ] ; fhir:display [ fhir:v "Fatal infantile hypertonic myofibrillar myopathy" ] ] [ fhir:code [ fhir:v "280558" ] ; fhir:display [ fhir:v "Warsaw breakage syndrome" ] ] [ fhir:code [ fhir:v "280576" ] ; fhir:display [ fhir:v "Nestor-Guillermo progeria syndrome" ] ] [ fhir:code [ fhir:v "280586" ] ; fhir:display [ fhir:v "Chondrodysplasia with joint dislocations, gPAPP type" ] ] [ fhir:code [ fhir:v "280598" ] ; fhir:display [ fhir:v "Hereditary sensorimotor neuropathy with hyperelastic skin" ] ] [ fhir:code [ fhir:v "2806" ] ; fhir:display [ fhir:v "Subacute sclerosing leukoencephalitis" ] ] [ fhir:code [ fhir:v "280615" ] ; fhir:display [ fhir:v "Hemoglobinopathy Toms River" ] ] [ fhir:code [ fhir:v "280620" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy type 6" ] ] [ fhir:code [ fhir:v "280628" ] ; fhir:display [ fhir:v "Familial progressive hyper- and hypopigmentation" ] ] [ fhir:code [ fhir:v "280633" ] ; fhir:display [ fhir:v "Multiple congenital anomalies-hypotonia-seizures syndrome" ] ] [ fhir:code [ fhir:v "280640" ] ; fhir:display [ fhir:v "Occipital pachygyria and polymicrogyria" ] ] [ fhir:code [ fhir:v "280654" ] ; fhir:display [ fhir:v "Autosomal recessive nail dysplasia" ] ] [ fhir:code [ fhir:v "280671" ] ; fhir:display [ fhir:v "Megaconial congenital muscular dystrophy" ] ] [ fhir:code [ fhir:v "280679" ] ; fhir:display [ fhir:v "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "2807" ] ; fhir:display [ fhir:v "Papilloma of choroid plexus" ] ] [ fhir:code [ fhir:v "280763" ] ; fhir:display [ fhir:v "Severe intellectual disability and progressive spastic paraplegia" ] ] [ fhir:code [ fhir:v "280774" ] ; fhir:display [ fhir:v "Generalized essential telangiectasia" ] ] [ fhir:code [ fhir:v "280779" ] ; fhir:display [ fhir:v "Cutaneous collagenous vasculopathy" ] ] [ fhir:code [ fhir:v "280785" ] ; fhir:display [ fhir:v "Bullous diffuse cutaneous mastocytosis" ] ] [ fhir:code [ fhir:v "280794" ] ; fhir:display [ fhir:v "Pseudoxanthomatous diffuse cutaneous mastocytosis" ] ] [ fhir:code [ fhir:v "2808" ] ; fhir:display [ fhir:v "Laryngeal abductor paralysis" ] ] [ fhir:code [ fhir:v "280802" ] ; fhir:display [ fhir:v "Intralobar congenital pulmonary sequestration" ] ] [ fhir:code [ fhir:v "280811" ] ; fhir:display [ fhir:v "Extralobar congenital pulmonary sequestration" ] ] [ fhir:code [ fhir:v "280821" ] ; fhir:display [ fhir:v "Communicating congenital bronchopulmonary-foregut malformation" ] ] [ fhir:code [ fhir:v "280827" ] ; fhir:display [ fhir:v "Congenital pulmonary airway malformation type 0" ] ] [ fhir:code [ fhir:v "280832" ] ; fhir:display [ fhir:v "Congenital pulmonary airway malformation type 1" ] ] [ fhir:code [ fhir:v "280840" ] ; fhir:display [ fhir:v "Congenital pulmonary airway malformation type 2" ] ] [ fhir:code [ fhir:v "280847" ] ; fhir:display [ fhir:v "Congenital pulmonary airway malformation type 3" ] ] [ fhir:code [ fhir:v "280854" ] ; fhir:display [ fhir:v "Congenital pulmonary airway malformation type 4" ] ] [ fhir:code [ fhir:v "2809" ] ; fhir:display [ fhir:v "Familial recurrent peripheral facial palsy" ] ] [ fhir:code [ fhir:v "280917" ] ; fhir:display [ fhir:v "Idiopathic posterior uveitis" ] ] [ fhir:code [ fhir:v "280921" ] ; fhir:display [ fhir:v "Idiopathic panuveitis" ] ] [ fhir:code [ fhir:v "281" ] ; fhir:display [ fhir:v "Monosomy 5p" ] ] [ fhir:code [ fhir:v "281090" ] ; fhir:display [ fhir:v "Syndromic recessive X-linked ichthyosis" ] ] [ fhir:code [ fhir:v "281122" ] ; fhir:display [ fhir:v "Self-improving collodion baby" ] ] [ fhir:code [ fhir:v "281127" ] ; fhir:display [ fhir:v "Acral self-healing collodion baby" ] ] [ fhir:code [ fhir:v "281139" ] ; fhir:display [ fhir:v "Annular epidermolytic ichthyosis" ] ] [ fhir:code [ fhir:v "281190" ] ; fhir:display [ fhir:v "Congenital reticular ichthyosiform erythroderma" ] ] [ fhir:code [ fhir:v "2812" ] ; fhir:display [ fhir:v "Parana hard skin syndrome" ] ] [ fhir:code [ fhir:v "281201" ] ; fhir:display [ fhir:v "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" ] ] [ fhir:code [ fhir:v "2815" ] ; fhir:display [ fhir:v "Spastic paraparesis-deafness syndrome" ] ] [ fhir:code [ fhir:v "2818" ] ; fhir:display [ fhir:v "Spastic paraplegia-glaucoma-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2819" ] ; fhir:display [ fhir:v "Spastic paraplegia-facial-cutaneous lesions syndrome" ] ] [ fhir:code [ fhir:v "2820" ] ; fhir:display [ fhir:v "Spastic paraplegia-nephritis-deafness syndrome" ] ] [ fhir:code [ fhir:v "2821" ] ; fhir:display [ fhir:v "Spastic paraplegia-neuropathy-poikiloderma syndrome" ] ] [ fhir:code [ fhir:v "282166" ] ; fhir:display [ fhir:v "Inherited Creutzfeldt-Jakob disease" ] ] [ fhir:code [ fhir:v "2822" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 11" ] ] [ fhir:code [ fhir:v "2824" ] ; fhir:display [ fhir:v "Paraplegia-intellectual disability-hyperkeratosis syndrome" ] ] [ fhir:code [ fhir:v "2825" ] ; fhir:display [ fhir:v "PARC syndrome" ] ] [ fhir:code [ fhir:v "2826" ] ; fhir:display [ fhir:v "Spastic paraplegia-precocious puberty syndrome" ] ] [ fhir:code [ fhir:v "2828" ] ; fhir:display [ fhir:v "Young-onset Parkinson disease" ] ] [ fhir:code [ fhir:v "283" ] ; fhir:display [ fhir:v "Demodicidosis" ] ] [ fhir:code [ fhir:v "2831" ] ; fhir:display [ fhir:v "Rhizomelic dysplasia, Patterson-Lowry type" ] ] [ fhir:code [ fhir:v "2832" ] ; fhir:display [ fhir:v "Short tarsus-absence of lower eyelashes syndrome" ] ] [ fhir:code [ fhir:v "2833" ] ; fhir:display [ fhir:v "Stiff skin syndrome" ] ] [ fhir:code [ fhir:v "2834" ] ; fhir:display [ fhir:v "Wrinkly skin syndrome" ] ] [ fhir:code [ fhir:v "2835" ] ; fhir:display [ fhir:v "Pectus excavatum-macrocephaly-dysplastic nails syndrome" ] ] [ fhir:code [ fhir:v "2836" ] ; fhir:display [ fhir:v "PEHO syndrome" ] ] [ fhir:code [ fhir:v "28378" ] ; fhir:display [ fhir:v "Tyrosinemia type 2" ] ] [ fhir:code [ fhir:v "2838" ] ; fhir:display [ fhir:v "Renal caliceal diverticuli-deafness syndrome" ] ] [ fhir:code [ fhir:v "2839" ] ; fhir:display [ fhir:v "Pelvis-shoulder dysplasia" ] ] [ fhir:code [ fhir:v "284" ] ; fhir:display [ fhir:v "Alveolar echinococcosis" ] ] [ fhir:code [ fhir:v "2840" ] ; fhir:display [ fhir:v "Pelvic dysplasia-arthrogryposis of lower limbs syndrome" ] ] [ fhir:code [ fhir:v "2841" ] ; fhir:display [ fhir:v "Familial benign chronic pemphigus" ] ] [ fhir:code [ fhir:v "284139" ] ; fhir:display [ fhir:v "Larsen-like syndrome, B3GAT3 type" ] ] [ fhir:code [ fhir:v "284149" ] ; fhir:display [ fhir:v "Craniosynostosis-dental anomalies" ] ] [ fhir:code [ fhir:v "284160" ] ; fhir:display [ fhir:v "8q21.11 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "284169" ] ; fhir:display [ fhir:v "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" ] ] [ fhir:code [ fhir:v "284180" ] ; fhir:display [ fhir:v "Xp22.13p22.2 duplication syndrome" ] ] [ fhir:code [ fhir:v "2842" ] ; fhir:display [ fhir:v "Penoscrotal transposition" ] ] [ fhir:code [ fhir:v "284227" ] ; fhir:display [ fhir:v "TEMPI syndrome" ] ] [ fhir:code [ fhir:v "284232" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2O" ] ] [ fhir:code [ fhir:v "284247" ] ; fhir:display [ fhir:v "Familial retinal arterial macroaneurysm" ] ] [ fhir:code [ fhir:v "284271" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome" ] ] [ fhir:code [ fhir:v "284282" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" ] ] [ fhir:code [ fhir:v "284289" ] ; fhir:display [ fhir:v "Adult-onset autosomal recessive cerebellar ataxia" ] ] [ fhir:code [ fhir:v "2843" ] ; fhir:display [ fhir:v "Pentosuria" ] ] [ fhir:code [ fhir:v "284324" ] ; fhir:display [ fhir:v "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" ] ] [ fhir:code [ fhir:v "284332" ] ; fhir:display [ fhir:v "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia" ] ] [ fhir:code [ fhir:v "284339" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 7" ] ] [ fhir:code [ fhir:v "284343" ] ; fhir:display [ fhir:v "DICER1 tumor-predisposition syndrome" ] ] [ fhir:code [ fhir:v "284362" ] ; fhir:display [ fhir:v "Fetal lung interstitial tumor" ] ] [ fhir:code [ fhir:v "284388" ] ; fhir:display [ fhir:v "Reversible cerebral vasoconstriction syndrome" ] ] [ fhir:code [ fhir:v "284395" ] ; fhir:display [ fhir:v "Well-differentiated fetal adenocarcinoma of the lung" ] ] [ fhir:code [ fhir:v "284400" ] ; fhir:display [ fhir:v "Small cell carcinoma of the bladder" ] ] [ fhir:code [ fhir:v "284411" ] ; fhir:display [ fhir:v "Glycerol kinase deficiency, juvenile form" ] ] [ fhir:code [ fhir:v "284414" ] ; fhir:display [ fhir:v "Glycerol kinase deficiency, adult form" ] ] [ fhir:code [ fhir:v "284417" ] ; fhir:display [ fhir:v "Phosphoserine aminotransferase deficiency, infantile/juvenile form" ] ] [ fhir:code [ fhir:v "284426" ] ; fhir:display [ fhir:v "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" ] ] [ fhir:code [ fhir:v "284435" ] ; fhir:display [ fhir:v "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency" ] ] [ fhir:code [ fhir:v "284448" ] ; fhir:display [ fhir:v "CLIPPERS" ] ] [ fhir:code [ fhir:v "284454" ] ; fhir:display [ fhir:v "Acute zonal occult outer retinopathy" ] ] [ fhir:code [ fhir:v "284460" ] ; fhir:display [ fhir:v "Acute annular outer retinopathy" ] ] [ fhir:code [ fhir:v "2847" ] ; fhir:display [ fhir:v "Pericardial and diaphragmatic defect" ] ] [ fhir:code [ fhir:v "2848" ] ; fhir:display [ fhir:v "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" ] ] [ fhir:code [ fhir:v "2849" ] ; fhir:display [ fhir:v "Perlman syndrome" ] ] [ fhir:code [ fhir:v "284963" ] ; fhir:display [ fhir:v "Marfan syndrome type 1" ] ] [ fhir:code [ fhir:v "284973" ] ; fhir:display [ fhir:v "Marfan syndrome type 2" ] ] [ fhir:code [ fhir:v "284979" ] ; fhir:display [ fhir:v "Neonatal Marfan syndrome" ] ] [ fhir:code [ fhir:v "284984" ] ; fhir:display [ fhir:v "Aneurysm-osteoarthritis syndrome" ] ] [ fhir:code [ fhir:v "285" ] ; fhir:display [ fhir:v "Hypermobile Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "2850" ] ; fhir:display [ fhir:v "Alopecia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2854" ] ; fhir:display [ fhir:v "Fuhrmann syndrome" ] ] [ fhir:code [ fhir:v "2855" ] ; fhir:display [ fhir:v "Perrault syndrome" ] ] [ fhir:code [ fhir:v "2856" ] ; fhir:display [ fhir:v "Persistent Müllerian duct syndrome" ] ] [ fhir:code [ fhir:v "286" ] ; fhir:display [ fhir:v "Vascular Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "2863" ] ; fhir:display [ fhir:v "Short stature-wormian bones-dextrocardia syndrome" ] ] [ fhir:code [ fhir:v "2865" ] ; fhir:display [ fhir:v "Short stature-webbed neck-heart disease syndrome" ] ] [ fhir:code [ fhir:v "2866" ] ; fhir:display [ fhir:v "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "2867" ] ; fhir:display [ fhir:v "Short stature, Brussels type" ] ] [ fhir:code [ fhir:v "2868" ] ; fhir:display [ fhir:v "Short stature-valvular heart disease-characteristic facies syndrome" ] ] [ fhir:code [ fhir:v "2869" ] ; fhir:display [ fhir:v "Peutz-Jeghers syndrome" ] ] [ fhir:code [ fhir:v "287" ] ; fhir:display [ fhir:v "Classical Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "2871" ] ; fhir:display [ fhir:v "Pfeiffer-Palm-Teller syndrome" ] ] [ fhir:code [ fhir:v "2872" ] ; fhir:display [ fhir:v "Cardiocranial syndrome, Pfeiffer type" ] ] [ fhir:code [ fhir:v "2874" ] ; fhir:display [ fhir:v "Phakomatosis pigmentokeratotica" ] ] [ fhir:code [ fhir:v "2875" ] ; fhir:display [ fhir:v "Phakomatosis pigmentovascularis" ] ] [ fhir:code [ fhir:v "2876" ] ; fhir:display [ fhir:v "PHAVER syndrome" ] ] [ fhir:code [ fhir:v "2878" ] ; fhir:display [ fhir:v "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome" ] ] [ fhir:code [ fhir:v "2879" ] ; fhir:display [ fhir:v "Phocomelia, Schinzel type" ] ] [ fhir:code [ fhir:v "288" ] ; fhir:display [ fhir:v "Hereditary elliptocytosis" ] ] [ fhir:code [ fhir:v "2880" ] ; fhir:display [ fhir:v "Phosphoenolpyruvate carboxykinase deficiency" ] ] [ fhir:code [ fhir:v "2881" ] ; fhir:display [ fhir:v "Cutaneous photosensitivity-lethal colitis syndrome" ] ] [ fhir:code [ fhir:v "2882" ] ; fhir:display [ fhir:v "Sitosterolemia" ] ] [ fhir:code [ fhir:v "2884" ] ; fhir:display [ fhir:v "Piebaldism" ] ] [ fhir:code [ fhir:v "2885" ] ; fhir:display [ fhir:v "Piebald trait-neurologic defects syndrome" ] ] [ fhir:code [ fhir:v "2886" ] ; fhir:display [ fhir:v "TARP syndrome" ] ] [ fhir:code [ fhir:v "2888" ] ; fhir:display [ fhir:v "Pierre Robin syndrome-faciodigital anomaly syndrome" ] ] [ fhir:code [ fhir:v "2889" ] ; fhir:display [ fhir:v "Pili torti" ] ] [ fhir:code [ fhir:v "289" ] ; fhir:display [ fhir:v "Ellis Van Creveld syndrome" ] ] [ fhir:code [ fhir:v "2890" ] ; fhir:display [ fhir:v "Pili torti-onychodysplasia syndrome" ] ] [ fhir:code [ fhir:v "2891" ] ; fhir:display [ fhir:v "Pili torti-developmental delay-neurological abnormalities syndrome" ] ] [ fhir:code [ fhir:v "289157" ] ; fhir:display [ fhir:v "Hypocalcemic vitamin D-dependent rickets" ] ] [ fhir:code [ fhir:v "289176" ] ; fhir:display [ fhir:v "Autosomal recessive hypophosphatemic rickets" ] ] [ fhir:code [ fhir:v "2892" ] ; fhir:display [ fhir:v "Pilodental dysplasia-refractive errors syndrome" ] ] [ fhir:code [ fhir:v "289266" ] ; fhir:display [ fhir:v "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" ] ] [ fhir:code [ fhir:v "289290" ] ; fhir:display [ fhir:v "Hypermethioninemia encephalopathy due to adenosine kinase deficiency" ] ] [ fhir:code [ fhir:v "289307" ] ; fhir:display [ fhir:v "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "289326" ] ; fhir:display [ fhir:v "Tropical spastic paraparesis" ] ] [ fhir:code [ fhir:v "289347" ] ; fhir:display [ fhir:v "Infective dermatitis associated with HTLV-1" ] ] [ fhir:code [ fhir:v "289356" ] ; fhir:display [ fhir:v "Primary non-gestational choriocarcinoma of ovary" ] ] [ fhir:code [ fhir:v "289362" ] ; fhir:display [ fhir:v "Non-central nervous system-localized embryonal carcinoma" ] ] [ fhir:code [ fhir:v "289365" ] ; fhir:display [ fhir:v "Familial vesicoureteral reflux" ] ] [ fhir:code [ fhir:v "289377" ] ; fhir:display [ fhir:v "Early-onset myopathy with fatal cardiomyopathy" ] ] [ fhir:code [ fhir:v "289380" ] ; fhir:display [ fhir:v "Myosclerosis" ] ] [ fhir:code [ fhir:v "289385" ] ; fhir:display [ fhir:v "Malignancy diagnosed during pregnancy" ] ] [ fhir:code [ fhir:v "289390" ] ; fhir:display [ fhir:v "Primary Sjögren syndrome" ] ] [ fhir:code [ fhir:v "289465" ] ; fhir:display [ fhir:v "Isolated congenital adermatoglyphia" ] ] [ fhir:code [ fhir:v "289478" ] ; fhir:display [ fhir:v "PASH syndrome" ] ] [ fhir:code [ fhir:v "289483" ] ; fhir:display [ fhir:v "Intellectual disability-alacrima-achalasia syndrome" ] ] [ fhir:code [ fhir:v "289494" ] ; fhir:display [ fhir:v "4H leukodystrophy" ] ] [ fhir:code [ fhir:v "289499" ] ; fhir:display [ fhir:v "Congenital cataract microcornea with corneal opacity" ] ] [ fhir:code [ fhir:v "289504" ] ; fhir:display [ fhir:v "Combined malonic and methylmalonic acidemia" ] ] [ fhir:code [ fhir:v "289513" ] ; fhir:display [ fhir:v "12q15q21.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "289522" ] ; fhir:display [ fhir:v "Microtriplication 11q24.1" ] ] [ fhir:code [ fhir:v "289539" ] ; fhir:display [ fhir:v "BAP1-related tumor predisposition syndrome" ] ] [ fhir:code [ fhir:v "289548" ] ; fhir:display [ fhir:v "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency" ] ] [ fhir:code [ fhir:v "289553" ] ; fhir:display [ fhir:v "Dysmorphism-conductive hearing loss-heart defect syndrome" ] ] [ fhir:code [ fhir:v "289560" ] ; fhir:display [ fhir:v "Mitochondrial membrane protein-associated neurodegeneration" ] ] [ fhir:code [ fhir:v "289586" ] ; fhir:display [ fhir:v "Exfoliative ichthyosis" ] ] [ fhir:code [ fhir:v "289596" ] ; fhir:display [ fhir:v "Juvenile nasopharyngeal angiofibroma" ] ] [ fhir:code [ fhir:v "2896" ] ; fhir:display [ fhir:v "Pitt-Hopkins syndrome" ] ] [ fhir:code [ fhir:v "289601" ] ; fhir:display [ fhir:v "Hereditary arterial and articular multiple calcification syndrome" ] ] [ fhir:code [ fhir:v "289661" ] ; fhir:display [ fhir:v "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly" ] ] [ fhir:code [ fhir:v "289666" ] ; fhir:display [ fhir:v "Plasmablastic lymphoma" ] ] [ fhir:code [ fhir:v "289682" ] ; fhir:display [ fhir:v "Lymphoepithelial-like carcinoma" ] ] [ fhir:code [ fhir:v "289685" ] ; fhir:display [ fhir:v "Myopericytoma" ] ] [ fhir:code [ fhir:v "2897" ] ; fhir:display [ fhir:v "Pityriasis rubra pilaris" ] ] [ fhir:code [ fhir:v "2898" ] ; fhir:display [ fhir:v "X-linked intellectual disability-plagiocephaly syndrome" ] ] [ fhir:code [ fhir:v "289846" ] ; fhir:display [ fhir:v "Glutathione synthetase deficiency with 5-oxoprolinuria" ] ] [ fhir:code [ fhir:v "289849" ] ; fhir:display [ fhir:v "Glutathione synthetase deficiency without 5-oxoprolinuria" ] ] [ fhir:code [ fhir:v "289857" ] ; fhir:display [ fhir:v "Neonatal glycine encephalopathy" ] ] [ fhir:code [ fhir:v "289860" ] ; fhir:display [ fhir:v "Infantile glycine encephalopathy" ] ] [ fhir:code [ fhir:v "289863" ] ; fhir:display [ fhir:v "Atypical glycine encephalopathy" ] ] [ fhir:code [ fhir:v "289877" ] ; fhir:display [ fhir:v "Transient hyperammonemia of the newborn" ] ] [ fhir:code [ fhir:v "289891" ] ; fhir:display [ fhir:v "Hypermethioninemia due to glycine N-methyltransferase deficiency" ] ] [ fhir:code [ fhir:v "2899" ] ; fhir:display [ fhir:v "Brachyolmia-amelogenesis imperfecta syndrome" ] ] [ fhir:code [ fhir:v "289916" ] ; fhir:display [ fhir:v "Vitamin B12-unresponsive methylmalonic acidemia type mut0" ] ] [ fhir:code [ fhir:v "29" ] ; fhir:display [ fhir:v "Mevalonic aciduria" ] ] [ fhir:code [ fhir:v "290" ] ; fhir:display [ fhir:v "Congenital rubella syndrome" ] ] [ fhir:code [ fhir:v "2900" ] ; fhir:display [ fhir:v "Leri pleonosteosis" ] ] [ fhir:code [ fhir:v "2901" ] ; fhir:display [ fhir:v "Neuralgic amyotrophy" ] ] [ fhir:code [ fhir:v "2902" ] ; fhir:display [ fhir:v "Idiopathic chronic eosinophilic pneumonia" ] ] [ fhir:code [ fhir:v "2903" ] ; fhir:display [ fhir:v "Familial spontaneous pneumothorax" ] ] [ fhir:code [ fhir:v "2905" ] ; fhir:display [ fhir:v "POEMS syndrome" ] ] [ fhir:code [ fhir:v "2907" ] ; fhir:display [ fhir:v "Hereditary acrokeratotic poikiloderma" ] ] [ fhir:code [ fhir:v "29072" ] ; fhir:display [ fhir:v "Hereditary pheochromocytoma-paraganglioma" ] ] [ fhir:code [ fhir:v "29073" ] ; fhir:display [ fhir:v "Multiple myeloma" ] ] [ fhir:code [ fhir:v "2908" ] ; fhir:display [ fhir:v "Kindler epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "2909" ] ; fhir:display [ fhir:v "Rothmund-Thomson syndrome" ] ] [ fhir:code [ fhir:v "291" ] ; fhir:display [ fhir:v "Congenital varicella syndrome" ] ] [ fhir:code [ fhir:v "2911" ] ; fhir:display [ fhir:v "Poland syndrome" ] ] [ fhir:code [ fhir:v "2912" ] ; fhir:display [ fhir:v "Poliomyelitis" ] ] [ fhir:code [ fhir:v "2916" ] ; fhir:display [ fhir:v "Postaxial polydactyly-dental and vertebral anomalies syndrome" ] ] [ fhir:code [ fhir:v "2917" ] ; fhir:display [ fhir:v "Polydactyly-myopia syndrome" ] ] [ fhir:code [ fhir:v "2919" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 5" ] ] [ fhir:code [ fhir:v "292" ] ; fhir:display [ fhir:v "Congenital enterovirus infection" ] ] [ fhir:code [ fhir:v "2920" ] ; fhir:display [ fhir:v "Oliver syndrome" ] ] [ fhir:code [ fhir:v "29207" ] ; fhir:display [ fhir:v "Reactive arthritis" ] ] [ fhir:code [ fhir:v "2921" ] ; fhir:display [ fhir:v "Preaxial polydactyly-colobomata-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2924" ] ; fhir:display [ fhir:v "Isolated polycystic liver disease" ] ] [ fhir:code [ fhir:v "2926" ] ; fhir:display [ fhir:v "Digital extensor muscle aplasia-polyneuropathy" ] ] [ fhir:code [ fhir:v "2928" ] ; fhir:display [ fhir:v "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome" ] ] [ fhir:code [ fhir:v "2929" ] ; fhir:display [ fhir:v "Juvenile polyposis syndrome" ] ] [ fhir:code [ fhir:v "293" ] ; fhir:display [ fhir:v "Congenital herpes simplex virus infection" ] ] [ fhir:code [ fhir:v "2930" ] ; fhir:display [ fhir:v "Cronkhite-Canada syndrome" ] ] [ fhir:code [ fhir:v "293144" ] ; fhir:display [ fhir:v "Familial clubfoot due to 5q31 microdeletion" ] ] [ fhir:code [ fhir:v "293150" ] ; fhir:display [ fhir:v "Familial clubfoot due to PITX1 point mutation" ] ] [ fhir:code [ fhir:v "293165" ] ; fhir:display [ fhir:v "Skin fragility-woolly hair-palmoplantar keratoderma syndrome" ] ] [ fhir:code [ fhir:v "293168" ] ; fhir:display [ fhir:v "Infantile-onset ascending hereditary spastic paralysis" ] ] [ fhir:code [ fhir:v "293173" ] ; fhir:display [ fhir:v "Acute generalized exanthematous pustulosis" ] ] [ fhir:code [ fhir:v "293181" ] ; fhir:display [ fhir:v "Malignant migrating focal seizures of infancy" ] ] [ fhir:code [ fhir:v "293199" ] ; fhir:display [ fhir:v "Pleomorphic rhabdomyosarcoma" ] ] [ fhir:code [ fhir:v "2932" ] ; fhir:display [ fhir:v "Chronic inflammatory demyelinating polyneuropathy" ] ] [ fhir:code [ fhir:v "293202" ] ; fhir:display [ fhir:v "Epithelioid sarcoma" ] ] [ fhir:code [ fhir:v "293208" ] ; fhir:display [ fhir:v "Celiac artery compression syndrome" ] ] [ fhir:code [ fhir:v "293284" ] ; fhir:display [ fhir:v "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria" ] ] [ fhir:code [ fhir:v "293375" ] ; fhir:display [ fhir:v "Grayson-Wilbrandt corneal dystrophy" ] ] [ fhir:code [ fhir:v "293381" ] ; fhir:display [ fhir:v "Epithelial recurrent erosion dystrophy" ] ] [ fhir:code [ fhir:v "2934" ] ; fhir:display [ fhir:v "Polysyndactyly-cardiac malformation syndrome" ] ] [ fhir:code [ fhir:v "293462" ] ; fhir:display [ fhir:v "Pre-Descemet corneal dystrophy" ] ] [ fhir:code [ fhir:v "2935" ] ; fhir:display [ fhir:v "Crossed polysyndactyly" ] ] [ fhir:code [ fhir:v "293603" ] ; fhir:display [ fhir:v "Congenital hereditary endothelial dystrophy type II" ] ] [ fhir:code [ fhir:v "293621" ] ; fhir:display [ fhir:v "X-linked endothelial corneal dystrophy" ] ] [ fhir:code [ fhir:v "293633" ] ; fhir:display [ fhir:v "PYCR1-related De Barsy syndrome" ] ] [ fhir:code [ fhir:v "293707" ] ; fhir:display [ fhir:v "Blepharophimosis-intellectual disability syndrome, MKB type" ] ] [ fhir:code [ fhir:v "293725" ] ; fhir:display [ fhir:v "Blepharophimosis-intellectual disability syndrome, Verloes type" ] ] [ fhir:code [ fhir:v "293807" ] ; fhir:display [ fhir:v "Ketamine-induced biliary dilatation" ] ] [ fhir:code [ fhir:v "293812" ] ; fhir:display [ fhir:v "Fixed drug eruption" ] ] [ fhir:code [ fhir:v "293822" ] ; fhir:display [ fhir:v "MITF-related melanoma and renal cell carcinoma predisposition syndrome" ] ] [ fhir:code [ fhir:v "293825" ] ; fhir:display [ fhir:v "Congenital dyserythropoietic anemia type IV" ] ] [ fhir:code [ fhir:v "293843" ] ; fhir:display [ fhir:v "3MC syndrome" ] ] [ fhir:code [ fhir:v "293864" ] ; fhir:display [ fhir:v "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" ] ] [ fhir:code [ fhir:v "293888" ] ; fhir:display [ fhir:v "Familial isolated arrhythmogenic ventricular dysplasia, left dominant form" ] ] [ fhir:code [ fhir:v "293899" ] ; fhir:display [ fhir:v "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form" ] ] [ fhir:code [ fhir:v "293910" ] ; fhir:display [ fhir:v "Familial isolated arrhythmogenic ventricular dysplasia, right dominant form" ] ] [ fhir:code [ fhir:v "293925" ] ; fhir:display [ fhir:v "Lethal occipital encephalocele-skeletal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "293936" ] ; fhir:display [ fhir:v "EDICT syndrome" ] ] [ fhir:code [ fhir:v "293939" ] ; fhir:display [ fhir:v "Distal Xq28 microduplication syndrome" ] ] [ fhir:code [ fhir:v "293948" ] ; fhir:display [ fhir:v "1p21.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "293955" ] ; fhir:display [ fhir:v "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency" ] ] [ fhir:code [ fhir:v "293958" ] ; fhir:display [ fhir:v "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome" ] ] [ fhir:code [ fhir:v "293964" ] ; fhir:display [ fhir:v "Hypoinsulinemic hypoglycemia and body hemihypertrophy" ] ] [ fhir:code [ fhir:v "293967" ] ; fhir:display [ fhir:v "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "293978" ] ; fhir:display [ fhir:v "Deficiency in anterior pituitary function-variable immunodeficiency syndrome" ] ] [ fhir:code [ fhir:v "293987" ] ; fhir:display [ fhir:v "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome" ] ] [ fhir:code [ fhir:v "294" ] ; fhir:display [ fhir:v "Fetal cytomegalovirus syndrome" ] ] [ fhir:code [ fhir:v "2940" ] ; fhir:display [ fhir:v "Porencephaly" ] ] [ fhir:code [ fhir:v "294016" ] ; fhir:display [ fhir:v "Microcephaly-capillary malformation syndrome" ] ] [ fhir:code [ fhir:v "294023" ] ; fhir:display [ fhir:v "Neonatal inflammatory skin and bowel disease" ] ] [ fhir:code [ fhir:v "294026" ] ; fhir:display [ fhir:v "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication" ] ] [ fhir:code [ fhir:v "2941" ] ; fhir:display [ fhir:v "Porencephaly-cerebellar hypoplasia-internal malformations syndrome" ] ] [ fhir:code [ fhir:v "2942" ] ; fhir:display [ fhir:v "Postpoliomyelitis syndrome" ] ] [ fhir:code [ fhir:v "294415" ] ; fhir:display [ fhir:v "Renal-hepatic-pancreatic dysplasia" ] ] [ fhir:code [ fhir:v "294422" ] ; fhir:display [ fhir:v "Chronic intestinal failure" ] ] [ fhir:code [ fhir:v "2946" ] ; fhir:display [ fhir:v "Brachydactyly-long thumb syndrome" ] ] [ fhir:code [ fhir:v "2947" ] ; fhir:display [ fhir:v "Triphalangeal thumbs-brachyectrodactyly syndrome" ] ] [ fhir:code [ fhir:v "294967" ] ; fhir:display [ fhir:v "Amelia of upper limb" ] ] [ fhir:code [ fhir:v "294969" ] ; fhir:display [ fhir:v "Amelia of lower limb" ] ] [ fhir:code [ fhir:v "294971" ] ; fhir:display [ fhir:v "Tetra-amelia" ] ] [ fhir:code [ fhir:v "294973" ] ; fhir:display [ fhir:v "Humeral agenesis/hypoplasia" ] ] [ fhir:code [ fhir:v "294975" ] ; fhir:display [ fhir:v "Congenital absence of upper arm and forearm with hand present" ] ] [ fhir:code [ fhir:v "294977" ] ; fhir:display [ fhir:v "Congenital absence of thigh and lower leg with foot present" ] ] [ fhir:code [ fhir:v "294979" ] ; fhir:display [ fhir:v "Congenital absence of both forearm and hand" ] ] [ fhir:code [ fhir:v "294981" ] ; fhir:display [ fhir:v "Congenital absence of both lower leg and foot" ] ] [ fhir:code [ fhir:v "294983" ] ; fhir:display [ fhir:v "Acheiria" ] ] [ fhir:code [ fhir:v "294986" ] ; fhir:display [ fhir:v "Apodia" ] ] [ fhir:code [ fhir:v "294988" ] ; fhir:display [ fhir:v "Congenital hypoplasia of thumb" ] ] [ fhir:code [ fhir:v "295" ] ; fhir:display [ fhir:v "Fetal parvovirus syndrome" ] ] [ fhir:code [ fhir:v "295000" ] ; fhir:display [ fhir:v "Constriction rings syndrome" ] ] [ fhir:code [ fhir:v "295002" ] ; fhir:display [ fhir:v "Hyperphalangy" ] ] [ fhir:code [ fhir:v "295004" ] ; fhir:display [ fhir:v "Central polydactyly" ] ] [ fhir:code [ fhir:v "295012" ] ; fhir:display [ fhir:v "Syndactyly type 6" ] ] [ fhir:code [ fhir:v "295014" ] ; fhir:display [ fhir:v "Familial isolated clinodactyly of fingers" ] ] [ fhir:code [ fhir:v "295016" ] ; fhir:display [ fhir:v "Camptodactyly of fingers" ] ] [ fhir:code [ fhir:v "295018" ] ; fhir:display [ fhir:v "Congenital pseudoarthrosis of the tibia" ] ] [ fhir:code [ fhir:v "295020" ] ; fhir:display [ fhir:v "Congenital pseudoarthrosis of the femur" ] ] [ fhir:code [ fhir:v "295022" ] ; fhir:display [ fhir:v "Congenital pseudoarthrosis of the fibula" ] ] [ fhir:code [ fhir:v "295024" ] ; fhir:display [ fhir:v "Congenital pseudoarthrosis of the radius" ] ] [ fhir:code [ fhir:v "295026" ] ; fhir:display [ fhir:v "Congenital pseudoarthrosis of the ulna" ] ] [ fhir:code [ fhir:v "295028" ] ; fhir:display [ fhir:v "Tibio-fibular synostosis" ] ] [ fhir:code [ fhir:v "295030" ] ; fhir:display [ fhir:v "True congenital shoulder dislocation" ] ] [ fhir:code [ fhir:v "295032" ] ; fhir:display [ fhir:v "Isolated congenital radial head dislocation" ] ] [ fhir:code [ fhir:v "295034" ] ; fhir:display [ fhir:v "Congenital knee dislocation" ] ] [ fhir:code [ fhir:v "295036" ] ; fhir:display [ fhir:v "Congenital patella dislocation" ] ] [ fhir:code [ fhir:v "295044" ] ; fhir:display [ fhir:v "Macrodactyly of fingers" ] ] [ fhir:code [ fhir:v "295047" ] ; fhir:display [ fhir:v "Macrodactyly of toes" ] ] [ fhir:code [ fhir:v "295049" ] ; fhir:display [ fhir:v "Upper limb hypertrophy" ] ] [ fhir:code [ fhir:v "295051" ] ; fhir:display [ fhir:v "Lower limb hypertrophy" ] ] [ fhir:code [ fhir:v "2951" ] ; fhir:display [ fhir:v "Absent thumb-short stature-immunodeficiency syndrome" ] ] [ fhir:code [ fhir:v "295187" ] ; fhir:display [ fhir:v "Zygodactyly type 1" ] ] [ fhir:code [ fhir:v "295189" ] ; fhir:display [ fhir:v "Zygodactyly type 2" ] ] [ fhir:code [ fhir:v "295191" ] ; fhir:display [ fhir:v "Zygodactyly type 3" ] ] [ fhir:code [ fhir:v "295193" ] ; fhir:display [ fhir:v "Zygodactyly type 4" ] ] [ fhir:code [ fhir:v "295195" ] ; fhir:display [ fhir:v "Synpolydactyly type 1" ] ] [ fhir:code [ fhir:v "295197" ] ; fhir:display [ fhir:v "Synpolydactyly type 2" ] ] [ fhir:code [ fhir:v "295199" ] ; fhir:display [ fhir:v "Synpolydactyly type 3" ] ] [ fhir:code [ fhir:v "2952" ] ; fhir:display [ fhir:v "Adducted thumbs-arthrogryposis syndrome, Christian type" ] ] [ fhir:code [ fhir:v "295201" ] ; fhir:display [ fhir:v "Congenital vertical talus, unilateral" ] ] [ fhir:code [ fhir:v "295203" ] ; fhir:display [ fhir:v "Congenital vertical talus, bilateral" ] ] [ fhir:code [ fhir:v "295213" ] ; fhir:display [ fhir:v "Humero-ulnar synostosis, unilateral" ] ] [ fhir:code [ fhir:v "295215" ] ; fhir:display [ fhir:v "Humero-ulnar synostosis, bilateral" ] ] [ fhir:code [ fhir:v "295217" ] ; fhir:display [ fhir:v "Radio-ulnar synostosis, unilateral" ] ] [ fhir:code [ fhir:v "295219" ] ; fhir:display [ fhir:v "Radio-ulnar synostosis, bilateral" ] ] [ fhir:code [ fhir:v "295225" ] ; fhir:display [ fhir:v "Congenital elbow dislocation, unilateral" ] ] [ fhir:code [ fhir:v "295227" ] ; fhir:display [ fhir:v "Congenital elbow dislocation, bilateral" ] ] [ fhir:code [ fhir:v "295229" ] ; fhir:display [ fhir:v "Congenital genu recurvatum" ] ] [ fhir:code [ fhir:v "295232" ] ; fhir:display [ fhir:v "Congenital genu flexum" ] ] [ fhir:code [ fhir:v "295239" ] ; fhir:display [ fhir:v "Macrodactyly of fingers, unilateral" ] ] [ fhir:code [ fhir:v "295241" ] ; fhir:display [ fhir:v "Macrodactyly of fingers, bilateral" ] ] [ fhir:code [ fhir:v "295243" ] ; fhir:display [ fhir:v "Macrodactyly of toes, unilateral" ] ] [ fhir:code [ fhir:v "295245" ] ; fhir:display [ fhir:v "Macrodactyly of toes, bilateral" ] ] [ fhir:code [ fhir:v "2953" ] ; fhir:display [ fhir:v "Musculocontractural Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "2956" ] ; fhir:display [ fhir:v "Acrodysplasia scoliosis" ] ] [ fhir:code [ fhir:v "2957" ] ; fhir:display [ fhir:v "Guttmacher syndrome" ] ] [ fhir:code [ fhir:v "2958" ] ; fhir:display [ fhir:v "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" ] ] [ fhir:code [ fhir:v "2959" ] ; fhir:display [ fhir:v "Progeria-short stature-pigmented nevi syndrome" ] ] [ fhir:code [ fhir:v "296" ] ; fhir:display [ fhir:v "Ollier disease" ] ] [ fhir:code [ fhir:v "2962" ] ; fhir:display [ fhir:v "De Barsy syndrome" ] ] [ fhir:code [ fhir:v "2963" ] ; fhir:display [ fhir:v "Progeroid syndrome, Petty type" ] ] [ fhir:code [ fhir:v "2964" ] ; fhir:display [ fhir:v "Autosomal dominant prognathism" ] ] [ fhir:code [ fhir:v "2965" ] ; fhir:display [ fhir:v "Prolactinoma" ] ] [ fhir:code [ fhir:v "2966" ] ; fhir:display [ fhir:v "Properdin deficiency" ] ] [ fhir:code [ fhir:v "2967" ] ; fhir:display [ fhir:v "Transcobalamin I deficiency" ] ] [ fhir:code [ fhir:v "2968" ] ; fhir:display [ fhir:v "Leukocyte adhesion deficiency" ] ] [ fhir:code [ fhir:v "2969" ] ; fhir:display [ fhir:v "Proteus-like syndrome" ] ] [ fhir:code [ fhir:v "297" ] ; fhir:display [ fhir:v "Tick-borne encephalitis" ] ] [ fhir:code [ fhir:v "2970" ] ; fhir:display [ fhir:v "Prune belly syndrome" ] ] [ fhir:code [ fhir:v "2971" ] ; fhir:display [ fhir:v "Peroxisomal acyl-CoA oxidase deficiency" ] ] [ fhir:code [ fhir:v "2972" ] ; fhir:display [ fhir:v "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" ] ] [ fhir:code [ fhir:v "2973" ] ; fhir:display [ fhir:v "46,XX difference of sex development-anorectal anomalies syndrome" ] ] [ fhir:code [ fhir:v "2975" ] ; fhir:display [ fhir:v "46,XX difference of sex development-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "2976" ] ; fhir:display [ fhir:v "Pseudoleprechaunism syndrome, Patterson type" ] ] [ fhir:code [ fhir:v "2978" ] ; fhir:display [ fhir:v "Chronic intestinal pseudoobstruction" ] ] [ fhir:code [ fhir:v "298" ] ; fhir:display [ fhir:v "Mitochondrial neurogastrointestinal encephalomyopathy" ] ] [ fhir:code [ fhir:v "2980" ] ; fhir:display [ fhir:v "Acrootoocular syndrome" ] ] [ fhir:code [ fhir:v "29822" ] ; fhir:display [ fhir:v "Spontaneous periodic hypothermia" ] ] [ fhir:code [ fhir:v "2983" ] ; fhir:display [ fhir:v "Difference of sex development-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "2985" ] ; fhir:display [ fhir:v "Pseudoprogeria syndrome" ] ] [ fhir:code [ fhir:v "2987" ] ; fhir:display [ fhir:v "Antecubital pterygium syndrome" ] ] [ fhir:code [ fhir:v "2988" ] ; fhir:display [ fhir:v "Pterygium colli-intellectual disability-digital anomalies syndrome" ] ] [ fhir:code [ fhir:v "2989" ] ; fhir:display [ fhir:v "Familial pterygium of the conjunctiva" ] ] [ fhir:code [ fhir:v "2990" ] ; fhir:display [ fhir:v "Autosomal recessive multiple pterygium syndrome" ] ] [ fhir:code [ fhir:v "2994" ] ; fhir:display [ fhir:v "Short stature-craniofacial anomalies-genital hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "2995" ] ; fhir:display [ fhir:v "Baraitser-Winter cerebrofrontofacial syndrome" ] ] [ fhir:code [ fhir:v "2997" ] ; fhir:display [ fhir:v "Ptosis-vocal cord paralysis syndrome" ] ] [ fhir:code [ fhir:v "2999" ] ; fhir:display [ fhir:v "Ptosis-strabismus-ectopic pupils syndrome" ] ] [ fhir:code [ fhir:v "30" ] ; fhir:display [ fhir:v "Hereditary orotic aciduria" ] ] [ fhir:code [ fhir:v "300" ] ; fhir:display [ fhir:v "Bifunctional enzyme deficiency" ] ] [ fhir:code [ fhir:v "3000" ] ; fhir:display [ fhir:v "Familial peripheral male-limited precocious puberty" ] ] [ fhir:code [ fhir:v "300179" ] ; fhir:display [ fhir:v "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency" ] ] [ fhir:code [ fhir:v "3002" ] ; fhir:display [ fhir:v "Immune thrombocytopenia" ] ] [ fhir:code [ fhir:v "300284" ] ; fhir:display [ fhir:v "Connective tissue disorder due to lysyl hydroxylase-3 deficiency" ] ] [ fhir:code [ fhir:v "300293" ] ; fhir:display [ fhir:v "Transient infantile hypertriglyceridemia and hepatosteatosis" ] ] [ fhir:code [ fhir:v "300298" ] ; fhir:display [ fhir:v "Severe congenital hypochromic anemia with ringed sideroblasts" ] ] [ fhir:code [ fhir:v "3003" ] ; fhir:display [ fhir:v "Pyknoachondrogenesis" ] ] [ fhir:code [ fhir:v "300305" ] ; fhir:display [ fhir:v "11p15.4 microduplication syndrome" ] ] [ fhir:code [ fhir:v "300313" ] ; fhir:display [ fhir:v "Congenital cataract-hearing loss-severe developmental delay syndrome" ] ] [ fhir:code [ fhir:v "300319" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2P" ] ] [ fhir:code [ fhir:v "300324" ] ; fhir:display [ fhir:v "Persistent polyclonal B-cell lymphocytosis" ] ] [ fhir:code [ fhir:v "300333" ] ; fhir:display [ fhir:v "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome" ] ] [ fhir:code [ fhir:v "300345" ] ; fhir:display [ fhir:v "Autosomal systemic lupus erythematosus" ] ] [ fhir:code [ fhir:v "300359" ] ; fhir:display [ fhir:v "PLCG2-associated antibody deficiency and immune dysregulation" ] ] [ fhir:code [ fhir:v "300373" ] ; fhir:display [ fhir:v "X-linked acrogigantism" ] ] [ fhir:code [ fhir:v "300382" ] ; fhir:display [ fhir:v "Progeroid and marfanoid aspect-lipodystrophy syndrome" ] ] [ fhir:code [ fhir:v "300385" ] ; fhir:display [ fhir:v "Pituitary carcinoma" ] ] [ fhir:code [ fhir:v "3004" ] ; fhir:display [ fhir:v "Mirror polydactyly-vertebral segmentation-limbs defects syndrome" ] ] [ fhir:code [ fhir:v "300493" ] ; fhir:display [ fhir:v "Sagliker syndrome" ] ] [ fhir:code [ fhir:v "300496" ] ; fhir:display [ fhir:v "Multiple congenital anomalies-hypotonia-seizures syndrome type 2" ] ] [ fhir:code [ fhir:v "3005" ] ; fhir:display [ fhir:v "Pyle disease" ] ] [ fhir:code [ fhir:v "300501" ] ; fhir:display [ fhir:v "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome" ] ] [ fhir:code [ fhir:v "300504" ] ; fhir:display [ fhir:v "Onychocytic matricoma" ] ] [ fhir:code [ fhir:v "300512" ] ; fhir:display [ fhir:v "Onychomatricoma" ] ] [ fhir:code [ fhir:v "300525" ] ; fhir:display [ fhir:v "Pseudohypoaldosteronism type 2D" ] ] [ fhir:code [ fhir:v "300530" ] ; fhir:display [ fhir:v "Pseudohypoaldosteronism type 2E" ] ] [ fhir:code [ fhir:v "300536" ] ; fhir:display [ fhir:v "DDOST-CDG" ] ] [ fhir:code [ fhir:v "300547" ] ; fhir:display [ fhir:v "Autosomal recessive infantile hypercalcemia" ] ] [ fhir:code [ fhir:v "300552" ] ; fhir:display [ fhir:v "Follicular cholangitis and pancreatitis" ] ] [ fhir:code [ fhir:v "300557" ] ; fhir:display [ fhir:v "Carcinoma of the ampulla of Vater" ] ] [ fhir:code [ fhir:v "300564" ] ; fhir:display [ fhir:v "Combined pulmonary fibrosis-emphysema syndrome" ] ] [ fhir:code [ fhir:v "300570" ] ; fhir:display [ fhir:v "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" ] ] [ fhir:code [ fhir:v "300573" ] ; fhir:display [ fhir:v "Polymicrogyria due to TUBB2B mutation" ] ] [ fhir:code [ fhir:v "300576" ] ; fhir:display [ fhir:v "Oligodontia-cancer predisposition syndrome" ] ] [ fhir:code [ fhir:v "3006" ] ; fhir:display [ fhir:v "Pyridoxine-dependent epilepsy" ] ] [ fhir:code [ fhir:v "300605" ] ; fhir:display [ fhir:v "Juvenile amyotrophic lateral sclerosis" ] ] [ fhir:code [ fhir:v "300751" ] ; fhir:display [ fhir:v "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation" ] ] [ fhir:code [ fhir:v "3008" ] ; fhir:display [ fhir:v "Pyruvate carboxylase deficiency" ] ] [ fhir:code [ fhir:v "300849" ] ; fhir:display [ fhir:v "Diffuse large B-cell lymphoma of the central nervous system" ] ] [ fhir:code [ fhir:v "300857" ] ; fhir:display [ fhir:v "T-cell/histiocyte rich large B cell lymphoma" ] ] [ fhir:code [ fhir:v "300865" ] ; fhir:display [ fhir:v "Primary cutaneous anaplastic large cell lymphoma" ] ] [ fhir:code [ fhir:v "300869" ] ; fhir:display [ fhir:v "Splenic diffuse red pulp small B-cell lymphoma" ] ] [ fhir:code [ fhir:v "300878" ] ; fhir:display [ fhir:v "Hairy cell leukemia variant" ] ] [ fhir:code [ fhir:v "300888" ] ; fhir:display [ fhir:v "Diffuse large B-cell lymphoma with chronic inflammation" ] ] [ fhir:code [ fhir:v "300895" ] ; fhir:display [ fhir:v "ALK-positive anaplastic large cell lymphoma" ] ] [ fhir:code [ fhir:v "300903" ] ; fhir:display [ fhir:v "ALK-negative anaplastic large cell lymphoma" ] ] [ fhir:code [ fhir:v "3010" ] ; fhir:display [ fhir:v "Qazi-Markouizos syndrome" ] ] [ fhir:code [ fhir:v "3011" ] ; fhir:display [ fhir:v "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "3015" ] ; fhir:display [ fhir:v "Radio-renal syndrome" ] ] [ fhir:code [ fhir:v "3016" ] ; fhir:display [ fhir:v "Absent radius-anogenital anomalies syndrome" ] ] [ fhir:code [ fhir:v "3018" ] ; fhir:display [ fhir:v "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" ] ] [ fhir:code [ fhir:v "3019" ] ; fhir:display [ fhir:v "Ramon syndrome" ] ] [ fhir:code [ fhir:v "302" ] ; fhir:display [ fhir:v "Epidermodysplasia verruciformis" ] ] [ fhir:code [ fhir:v "3020" ] ; fhir:display [ fhir:v "Ramsay Hunt syndrome" ] ] [ fhir:code [ fhir:v "3021" ] ; fhir:display [ fhir:v "RAPADILINO syndrome" ] ] [ fhir:code [ fhir:v "3023" ] ; fhir:display [ fhir:v "External auditory canal atresia-vertical talus-hypertelorism syndrome" ] ] [ fhir:code [ fhir:v "3026" ] ; fhir:display [ fhir:v "Radial ray hypoplasia-choanal atresia syndrome" ] ] [ fhir:code [ fhir:v "3027" ] ; fhir:display [ fhir:v "Caudal regression syndrome" ] ] [ fhir:code [ fhir:v "3032" ] ; fhir:display [ fhir:v "NPHP3-related Meckel-like syndrome" ] ] [ fhir:code [ fhir:v "3033" ] ; fhir:display [ fhir:v "Renal tubular dysgenesis" ] ] [ fhir:code [ fhir:v "3034" ] ; fhir:display [ fhir:v "Delayed membranous cranial ossification" ] ] [ fhir:code [ fhir:v "3035" ] ; fhir:display [ fhir:v "Growth delay-hydrocephaly-lung hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "3038" ] ; fhir:display [ fhir:v "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome" ] ] [ fhir:code [ fhir:v "30391" ] ; fhir:display [ fhir:v "Isolated biliary atresia" ] ] [ fhir:code [ fhir:v "3041" ] ; fhir:display [ fhir:v "Intellectual disability-balding-patella luxation-acromicria syndrome" ] ] [ fhir:code [ fhir:v "3042" ] ; fhir:display [ fhir:v "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome" ] ] [ fhir:code [ fhir:v "3044" ] ; fhir:display [ fhir:v "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome" ] ] [ fhir:code [ fhir:v "3047" ] ; fhir:display [ fhir:v "Blepharophimosis-intellectual disability syndrome, SBBYS type" ] ] [ fhir:code [ fhir:v "3051" ] ; fhir:display [ fhir:v "Nicolaides-Baraitser syndrome" ] ] [ fhir:code [ fhir:v "3052" ] ; fhir:display [ fhir:v "X-linked intellectual disability-seizures-psoriasis syndrome" ] ] [ fhir:code [ fhir:v "3055" ] ; fhir:display [ fhir:v "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome" ] ] [ fhir:code [ fhir:v "3057" ] ; fhir:display [ fhir:v "Monoamine oxidase A deficiency" ] ] [ fhir:code [ fhir:v "306" ] ; fhir:display [ fhir:v "Benign familial infantile epilepsy" ] ] [ fhir:code [ fhir:v "3063" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Snyder type" ] ] [ fhir:code [ fhir:v "306431" ] ; fhir:display [ fhir:v "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies" ] ] [ fhir:code [ fhir:v "306504" ] ; fhir:display [ fhir:v "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" ] ] [ fhir:code [ fhir:v "306511" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 48" ] ] [ fhir:code [ fhir:v "306516" ] ; fhir:display [ fhir:v "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis" ] ] [ fhir:code [ fhir:v "306527" ] ; fhir:display [ fhir:v "Isolated hereditary congenital facial paralysis" ] ] [ fhir:code [ fhir:v "306530" ] ; fhir:display [ fhir:v "Congenital hereditary facial paralysis-variable hearing loss syndrome" ] ] [ fhir:code [ fhir:v "306542" ] ; fhir:display [ fhir:v "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome" ] ] [ fhir:code [ fhir:v "306547" ] ; fhir:display [ fhir:v "Porencephaly-microcephaly-bilateral congenital cataract syndrome" ] ] [ fhir:code [ fhir:v "306550" ] ; fhir:display [ fhir:v "FADD-related immunodeficiency" ] ] [ fhir:code [ fhir:v "306553" ] ; fhir:display [ fhir:v "Myospherulosis" ] ] [ fhir:code [ fhir:v "306558" ] ; fhir:display [ fhir:v "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" ] ] [ fhir:code [ fhir:v "306577" ] ; fhir:display [ fhir:v "Sodium channelopathy-related small fiber neuropathy" ] ] [ fhir:code [ fhir:v "306617" ] ; fhir:display [ fhir:v "X-linked complicated spastic paraplegia type 1" ] ] [ fhir:code [ fhir:v "306644" ] ; fhir:display [ fhir:v "Complication after organ transplantation" ] ] [ fhir:code [ fhir:v "306658" ] ; fhir:display [ fhir:v "Familial normophosphatemic tumoral calcinosis" ] ] [ fhir:code [ fhir:v "306661" ] ; fhir:display [ fhir:v "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome" ] ] [ fhir:code [ fhir:v "306669" ] ; fhir:display [ fhir:v "Hemiparkinsonism-hemiatrophy syndrome" ] ] [ fhir:code [ fhir:v "306674" ] ; fhir:display [ fhir:v "Kufor-Rakeb syndrome" ] ] [ fhir:code [ fhir:v "306682" ] ; fhir:display [ fhir:v "Manganese poisoning" ] ] [ fhir:code [ fhir:v "306686" ] ; fhir:display [ fhir:v "Delayed encephalopathy due to carbon monoxide poisoning" ] ] [ fhir:code [ fhir:v "306692" ] ; fhir:display [ fhir:v "Cyanide-induced parkinsonism-dystonia" ] ] [ fhir:code [ fhir:v "306731" ] ; fhir:display [ fhir:v "Sydenham chorea" ] ] [ fhir:code [ fhir:v "306734" ] ; fhir:display [ fhir:v "Primary dystonia, DYT21 type" ] ] [ fhir:code [ fhir:v "306741" ] ; fhir:display [ fhir:v "Hemidystonia-hemiatrophy syndrome" ] ] [ fhir:code [ fhir:v "306776" ] ; fhir:display [ fhir:v "Sporadic hyperekplexia" ] ] [ fhir:code [ fhir:v "3068" ] ; fhir:display [ fhir:v "Intellectual disability-myopathy-short stature-endocrine defect syndrome" ] ] [ fhir:code [ fhir:v "307" ] ; fhir:display [ fhir:v "Juvenile myoclonic epilepsy" ] ] [ fhir:code [ fhir:v "3071" ] ; fhir:display [ fhir:v "Costello syndrome" ] ] [ fhir:code [ fhir:v "3074" ] ; fhir:display [ fhir:v "Intellectual disability-short stature-hypertelorism syndrome" ] ] [ fhir:code [ fhir:v "3077" ] ; fhir:display [ fhir:v "X-linked intellectual disability-psychosis-macroorchidism syndrome" ] ] [ fhir:code [ fhir:v "307766" ] ; fhir:display [ fhir:v "Curly hair-acral keratoderma-caries syndrome" ] ] [ fhir:code [ fhir:v "3078" ] ; fhir:display [ fhir:v "Severe X-linked intellectual disability, Gustavson type" ] ] [ fhir:code [ fhir:v "3079" ] ; fhir:display [ fhir:v "Intellectual disability, Buenos-Aires type" ] ] [ fhir:code [ fhir:v "307936" ] ; fhir:display [ fhir:v "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" ] ] [ fhir:code [ fhir:v "308" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy type 1" ] ] [ fhir:code [ fhir:v "3080" ] ; fhir:display [ fhir:v "Intellectual disability, Wolff type" ] ] [ fhir:code [ fhir:v "308013" ] ; fhir:display [ fhir:v "Focal acral hyperkeratosis" ] ] [ fhir:code [ fhir:v "3082" ] ; fhir:display [ fhir:v "Intellectual disability-polydactyly-uncombable hair syndrome" ] ] [ fhir:code [ fhir:v "308380" ] ; fhir:display [ fhir:v "Methylcobalamin deficiency type cblDv1" ] ] [ fhir:code [ fhir:v "308386" ] ; fhir:display [ fhir:v "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" ] ] [ fhir:code [ fhir:v "308393" ] ; fhir:display [ fhir:v "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" ] ] [ fhir:code [ fhir:v "308400" ] ; fhir:display [ fhir:v "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" ] ] [ fhir:code [ fhir:v "308410" ] ; fhir:display [ fhir:v "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" ] ] [ fhir:code [ fhir:v "308425" ] ; fhir:display [ fhir:v "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" ] ] [ fhir:code [ fhir:v "308442" ] ; fhir:display [ fhir:v "Vitamin B12-responsive methylmalonic acidemia, type cblDv2" ] ] [ fhir:code [ fhir:v "308473" ] ; fhir:display [ fhir:v "Erythrocyte galactose epimerase deficiency" ] ] [ fhir:code [ fhir:v "308487" ] ; fhir:display [ fhir:v "Generalized galactose epimerase deficiency" ] ] [ fhir:code [ fhir:v "3085" ] ; fhir:display [ fhir:v "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "308552" ] ; fhir:display [ fhir:v "Glycogen storage disease due to acid maltase deficiency, infantile onset" ] ] [ fhir:code [ fhir:v "3086" ] ; fhir:display [ fhir:v "Autosomal dominant vitreoretinochoroidopathy" ] ] [ fhir:code [ fhir:v "308621" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form" ] ] [ fhir:code [ fhir:v "308638" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form" ] ] [ fhir:code [ fhir:v "308655" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" ] ] [ fhir:code [ fhir:v "308670" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form" ] ] [ fhir:code [ fhir:v "308684" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" ] ] [ fhir:code [ fhir:v "308698" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form" ] ] [ fhir:code [ fhir:v "308712" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" ] ] [ fhir:code [ fhir:v "3088" ] ; fhir:display [ fhir:v "Revesz syndrome" ] ] [ fhir:code [ fhir:v "309015" ] ; fhir:display [ fhir:v "Familial lipoprotein lipase deficiency" ] ] [ fhir:code [ fhir:v "309020" ] ; fhir:display [ fhir:v "Familial apolipoprotein C-II deficiency" ] ] [ fhir:code [ fhir:v "309025" ] ; fhir:display [ fhir:v "Mevalonate kinase deficiency" ] ] [ fhir:code [ fhir:v "309031" ] ; fhir:display [ fhir:v "Pancreatic triacylglycerol lipase deficiency" ] ] [ fhir:code [ fhir:v "309108" ] ; fhir:display [ fhir:v "Pancreatic colipase deficiency" ] ] [ fhir:code [ fhir:v "309111" ] ; fhir:display [ fhir:v "Combined pancreatic lipase-colipase deficiency" ] ] [ fhir:code [ fhir:v "309147" ] ; fhir:display [ fhir:v "Hyper-beta-alaninemia" ] ] [ fhir:code [ fhir:v "309155" ] ; fhir:display [ fhir:v "Sandhoff disease, infantile form" ] ] [ fhir:code [ fhir:v "309162" ] ; fhir:display [ fhir:v "Sandhoff disease, juvenile form" ] ] [ fhir:code [ fhir:v "309169" ] ; fhir:display [ fhir:v "Sandhoff disease, adult form" ] ] [ fhir:code [ fhir:v "309178" ] ; fhir:display [ fhir:v "Tay-Sachs disease, B variant, infantile form" ] ] [ fhir:code [ fhir:v "309185" ] ; fhir:display [ fhir:v "Tay-Sachs disease, B variant, juvenile form" ] ] [ fhir:code [ fhir:v "309192" ] ; fhir:display [ fhir:v "Tay-Sachs disease, B variant, adult form" ] ] [ fhir:code [ fhir:v "3092" ] ; fhir:display [ fhir:v "Fixed subaortic stenosis" ] ] [ fhir:code [ fhir:v "309239" ] ; fhir:display [ fhir:v "Tay-Sachs disease, B1 variant" ] ] [ fhir:code [ fhir:v "30924" ] ; fhir:display [ fhir:v "Primary hypomagnesemia with secondary hypocalcemia" ] ] [ fhir:code [ fhir:v "309246" ] ; fhir:display [ fhir:v "GM2 gangliosidosis, AB variant" ] ] [ fhir:code [ fhir:v "30925" ] ; fhir:display [ fhir:v "Hereditary central diabetes insipidus" ] ] [ fhir:code [ fhir:v "309252" ] ; fhir:display [ fhir:v "Atypical Gaucher disease due to saposin C deficiency" ] ] [ fhir:code [ fhir:v "309256" ] ; fhir:display [ fhir:v "Metachromatic leukodystrophy, late infantile form" ] ] [ fhir:code [ fhir:v "309263" ] ; fhir:display [ fhir:v "Metachromatic leukodystrophy, juvenile form" ] ] [ fhir:code [ fhir:v "309271" ] ; fhir:display [ fhir:v "Metachromatic leukodystrophy, adult form" ] ] [ fhir:code [ fhir:v "309282" ] ; fhir:display [ fhir:v "Alpha-mannosidosis, infantile form" ] ] [ fhir:code [ fhir:v "309288" ] ; fhir:display [ fhir:v "Alpha-mannosidosis, adult form" ] ] [ fhir:code [ fhir:v "309297" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 4A" ] ] [ fhir:code [ fhir:v "3093" ] ; fhir:display [ fhir:v "Congenital aortic valve stenosis" ] ] [ fhir:code [ fhir:v "309310" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 4B" ] ] [ fhir:code [ fhir:v "309324" ] ; fhir:display [ fhir:v "Free sialic acid storage disease, infantile form" ] ] [ fhir:code [ fhir:v "309331" ] ; fhir:display [ fhir:v "Intermediate severe Salla disease" ] ] [ fhir:code [ fhir:v "309334" ] ; fhir:display [ fhir:v "Salla disease" ] ] [ fhir:code [ fhir:v "3095" ] ; fhir:display [ fhir:v "Atypical Rett syndrome" ] ] [ fhir:code [ fhir:v "3096" ] ; fhir:display [ fhir:v "Reye syndrome" ] ] [ fhir:code [ fhir:v "3097" ] ; fhir:display [ fhir:v "Meacham syndrome" ] ] [ fhir:code [ fhir:v "309789" ] ; fhir:display [ fhir:v "Rhizomelic chondrodysplasia punctata type 1" ] ] [ fhir:code [ fhir:v "309796" ] ; fhir:display [ fhir:v "Rhizomelic chondrodysplasia punctata type 2" ] ] [ fhir:code [ fhir:v "3098" ] ; fhir:display [ fhir:v "Rhizomelic syndrome, Urbach type" ] ] [ fhir:code [ fhir:v "309803" ] ; fhir:display [ fhir:v "Rhizomelic chondrodysplasia punctata type 3" ] ] [ fhir:code [ fhir:v "309854" ] ; fhir:display [ fhir:v "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome" ] ] [ fhir:code [ fhir:v "3099" ] ; fhir:display [ fhir:v "Rheumatic fever" ] ] [ fhir:code [ fhir:v "31" ] ; fhir:display [ fhir:v "Oxoglutaric aciduria" ] ] [ fhir:code [ fhir:v "3101" ] ; fhir:display [ fhir:v "Richieri Costa-da Silva syndrome" ] ] [ fhir:code [ fhir:v "3102" ] ; fhir:display [ fhir:v "Richieri Costa-Pereira syndrome" ] ] [ fhir:code [ fhir:v "3103" ] ; fhir:display [ fhir:v "Roberts syndrome" ] ] [ fhir:code [ fhir:v "3104" ] ; fhir:display [ fhir:v "Robin sequence-oligodactyly syndrome" ] ] [ fhir:code [ fhir:v "31043" ] ; fhir:display [ fhir:v "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" ] ] [ fhir:code [ fhir:v "3107" ] ; fhir:display [ fhir:v "Autosomal dominant Robinow syndrome" ] ] [ fhir:code [ fhir:v "3109" ] ; fhir:display [ fhir:v "Mayer-Rokitansky-Küster-Hauser syndrome" ] ] [ fhir:code [ fhir:v "3110" ] ; fhir:display [ fhir:v "Rombo syndrome" ] ] [ fhir:code [ fhir:v "3111" ] ; fhir:display [ fhir:v "Rotor syndrome" ] ] [ fhir:code [ fhir:v "31112" ] ; fhir:display [ fhir:v "Dermatofibrosarcoma protuberans" ] ] [ fhir:code [ fhir:v "3115" ] ; fhir:display [ fhir:v "Roussy-Lévy syndrome" ] ] [ fhir:code [ fhir:v "31150" ] ; fhir:display [ fhir:v "Tangier disease" ] ] [ fhir:code [ fhir:v "312" ] ; fhir:display [ fhir:v "Autosomal dominant epidermolytic ichthyosis" ] ] [ fhir:code [ fhir:v "31202" ] ; fhir:display [ fhir:v "Melioidosis" ] ] [ fhir:code [ fhir:v "31204" ] ; fhir:display [ fhir:v "Nocardiosis" ] ] [ fhir:code [ fhir:v "31205" ] ; fhir:display [ fhir:v "Rat-bite fever" ] ] [ fhir:code [ fhir:v "3121" ] ; fhir:display [ fhir:v "Ruvalcaba syndrome" ] ] [ fhir:code [ fhir:v "3124" ] ; fhir:display [ fhir:v "Saccharopinuria" ] ] [ fhir:code [ fhir:v "3129" ] ; fhir:display [ fhir:v "Sarcosinemia" ] ] [ fhir:code [ fhir:v "313" ] ; fhir:display [ fhir:v "Lamellar ichthyosis" ] ] [ fhir:code [ fhir:v "3130" ] ; fhir:display [ fhir:v "Satoyoshi syndrome" ] ] [ fhir:code [ fhir:v "3132" ] ; fhir:display [ fhir:v "Say-Barber-Miller syndrome" ] ] [ fhir:code [ fhir:v "3134" ] ; fhir:display [ fhir:v "SCARF syndrome" ] ] [ fhir:code [ fhir:v "3137" ] ; fhir:display [ fhir:v "Alpha-N-acetylgalactosaminidase deficiency" ] ] [ fhir:code [ fhir:v "313772" ] ; fhir:display [ fhir:v "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" ] ] [ fhir:code [ fhir:v "313781" ] ; fhir:display [ fhir:v "20p13 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "313795" ] ; fhir:display [ fhir:v "Jawad syndrome" ] ] [ fhir:code [ fhir:v "3138" ] ; fhir:display [ fhir:v "Ulnar-mammary syndrome" ] ] [ fhir:code [ fhir:v "313800" ] ; fhir:display [ fhir:v "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome" ] ] [ fhir:code [ fhir:v "313808" ] ; fhir:display [ fhir:v "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia" ] ] [ fhir:code [ fhir:v "313838" ] ; fhir:display [ fhir:v "Coats plus syndrome" ] ] [ fhir:code [ fhir:v "313846" ] ; fhir:display [ fhir:v "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" ] ] [ fhir:code [ fhir:v "313850" ] ; fhir:display [ fhir:v "Infantile cerebellar-retinal degeneration" ] ] [ fhir:code [ fhir:v "313855" ] ; fhir:display [ fhir:v "FGFR2-related bent bone dysplasia" ] ] [ fhir:code [ fhir:v "313884" ] ; fhir:display [ fhir:v "12p12.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "313892" ] ; fhir:display [ fhir:v "Developmental and speech delay due to SOX5 deficiency" ] ] [ fhir:code [ fhir:v "313906" ] ; fhir:display [ fhir:v "Congenital pancreatic cyst" ] ] [ fhir:code [ fhir:v "313920" ] ; fhir:display [ fhir:v "Epstein-Barr virus-associated gastric carcinoma" ] ] [ fhir:code [ fhir:v "313936" ] ; fhir:display [ fhir:v "PENS syndrome" ] ] [ fhir:code [ fhir:v "313947" ] ; fhir:display [ fhir:v "2q23.1 microduplication syndrome" ] ] [ fhir:code [ fhir:v "314" ] ; fhir:display [ fhir:v "Erythroderma desquamativum" ] ] [ fhir:code [ fhir:v "314002" ] ; fhir:display [ fhir:v "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome" ] ] [ fhir:code [ fhir:v "314017" ] ; fhir:display [ fhir:v "Idiopathic linear interstitial keratitis" ] ] [ fhir:code [ fhir:v "314022" ] ; fhir:display [ fhir:v "Gastric adenocarcinoma and proximal polyposis of the stomach" ] ] [ fhir:code [ fhir:v "314029" ] ; fhir:display [ fhir:v "High bone mass osteogenesis imperfecta" ] ] [ fhir:code [ fhir:v "314034" ] ; fhir:display [ fhir:v "7p22.1 microduplication syndrome" ] ] [ fhir:code [ fhir:v "314041" ] ; fhir:display [ fhir:v "Marfanoid habitus-inguinal hernia-advanced bone age syndrome" ] ] [ fhir:code [ fhir:v "314051" ] ; fhir:display [ fhir:v "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" ] ] [ fhir:code [ fhir:v "3143" ] ; fhir:display [ fhir:v "Autoimmune polyendocrinopathy type 2" ] ] [ fhir:code [ fhir:v "314373" ] ; fhir:display [ fhir:v "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity" ] ] [ fhir:code [ fhir:v "314376" ] ; fhir:display [ fhir:v "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency" ] ] [ fhir:code [ fhir:v "314381" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 6" ] ] [ fhir:code [ fhir:v "314389" ] ; fhir:display [ fhir:v "Xq12-q13.3 duplication syndrome" ] ] [ fhir:code [ fhir:v "314394" ] ; fhir:display [ fhir:v "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" ] ] [ fhir:code [ fhir:v "314399" ] ; fhir:display [ fhir:v "Autosomal dominant aplasia and myelodysplasia" ] ] [ fhir:code [ fhir:v "3144" ] ; fhir:display [ fhir:v "Schneckenbecken dysplasia" ] ] [ fhir:code [ fhir:v "314404" ] ; fhir:display [ fhir:v "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" ] ] [ fhir:code [ fhir:v "314419" ] ; fhir:display [ fhir:v "Ameloblastoma" ] ] [ fhir:code [ fhir:v "314422" ] ; fhir:display [ fhir:v "Ameloblastic carcinoma" ] ] [ fhir:code [ fhir:v "314432" ] ; fhir:display [ fhir:v "Spigelian hernia-cryptorchidism syndrome" ] ] [ fhir:code [ fhir:v "314451" ] ; fhir:display [ fhir:v "Meigs syndrome" ] ] [ fhir:code [ fhir:v "314459" ] ; fhir:display [ fhir:v "Pseudo-Meigs syndrome" ] ] [ fhir:code [ fhir:v "314466" ] ; fhir:display [ fhir:v "Atypical Meigs syndrome" ] ] [ fhir:code [ fhir:v "314473" ] ; fhir:display [ fhir:v "Ovarian fibroma" ] ] [ fhir:code [ fhir:v "314478" ] ; fhir:display [ fhir:v "Ovarian fibrothecoma" ] ] [ fhir:code [ fhir:v "314485" ] ; fhir:display [ fhir:v "Young adult-onset distal hereditary motor neuropathy" ] ] [ fhir:code [ fhir:v "3145" ] ; fhir:display [ fhir:v "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "314555" ] ; fhir:display [ fhir:v "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome" ] ] [ fhir:code [ fhir:v "314566" ] ; fhir:display [ fhir:v "Primary progressive apraxia of speech" ] ] [ fhir:code [ fhir:v "314572" ] ; fhir:display [ fhir:v "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome" ] ] [ fhir:code [ fhir:v "314575" ] ; fhir:display [ fhir:v "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome" ] ] [ fhir:code [ fhir:v "314585" ] ; fhir:display [ fhir:v "15q overgrowth syndrome" ] ] [ fhir:code [ fhir:v "314588" ] ; fhir:display [ fhir:v "Distal triplication 15q" ] ] [ fhir:code [ fhir:v "314597" ] ; fhir:display [ fhir:v "Chudley-McCullough syndrome" ] ] [ fhir:code [ fhir:v "314603" ] ; fhir:display [ fhir:v "Autosomal recessive spastic ataxia with leukoencephalopathy" ] ] [ fhir:code [ fhir:v "314613" ] ; fhir:display [ fhir:v "Growing teratoma syndrome" ] ] [ fhir:code [ fhir:v "314621" ] ; fhir:display [ fhir:v "Duplication of the pituitary gland" ] ] [ fhir:code [ fhir:v "314629" ] ; fhir:display [ fhir:v "CLN11 disease" ] ] [ fhir:code [ fhir:v "314632" ] ; fhir:display [ fhir:v "ATP13A2-related juvenile neuronal ceroid lipofuscinosis" ] ] [ fhir:code [ fhir:v "314637" ] ; fhir:display [ fhir:v "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" ] ] [ fhir:code [ fhir:v "314647" ] ; fhir:display [ fhir:v "Non-progressive cerebellar ataxia with intellectual disability" ] ] [ fhir:code [ fhir:v "314652" ] ; fhir:display [ fhir:v "Variant ABeta2M amyloidosis" ] ] [ fhir:code [ fhir:v "314655" ] ; fhir:display [ fhir:v "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" ] ] [ fhir:code [ fhir:v "314662" ] ; fhir:display [ fhir:v "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia" ] ] [ fhir:code [ fhir:v "314667" ] ; fhir:display [ fhir:v "TMEM165-CDG" ] ] [ fhir:code [ fhir:v "314679" ] ; fhir:display [ fhir:v "Cerebrofacioarticular syndrome" ] ] [ fhir:code [ fhir:v "314684" ] ; fhir:display [ fhir:v "Primary bone lymphoma" ] ] [ fhir:code [ fhir:v "314689" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to STK4 deficiency" ] ] [ fhir:code [ fhir:v "314697" ] ; fhir:display [ fhir:v "Acquired porencephaly" ] ] [ fhir:code [ fhir:v "314701" ] ; fhir:display [ fhir:v "Primary systemic amyloidosis" ] ] [ fhir:code [ fhir:v "314709" ] ; fhir:display [ fhir:v "Primary localized amyloidosis" ] ] [ fhir:code [ fhir:v "314718" ] ; fhir:display [ fhir:v "Lethal arteriopathy syndrome due to fibulin-4 deficiency" ] ] [ fhir:code [ fhir:v "314721" ] ; fhir:display [ fhir:v "Atypical dentin dysplasia due to SMOC2 deficiency" ] ] [ fhir:code [ fhir:v "314769" ] ; fhir:display [ fhir:v "Somatomammotropinoma" ] ] [ fhir:code [ fhir:v "314777" ] ; fhir:display [ fhir:v "Familial isolated pituitary adenoma" ] ] [ fhir:code [ fhir:v "314786" ] ; fhir:display [ fhir:v "Silent pituitary adenoma" ] ] [ fhir:code [ fhir:v "314790" ] ; fhir:display [ fhir:v "Null pituitary adenoma" ] ] [ fhir:code [ fhir:v "314795" ] ; fhir:display [ fhir:v "SHOX-related short stature" ] ] [ fhir:code [ fhir:v "3148" ] ; fhir:display [ fhir:v "Malignant peripheral nerve sheath tumor" ] ] [ fhir:code [ fhir:v "314802" ] ; fhir:display [ fhir:v "Short stature due to partial GHR deficiency" ] ] [ fhir:code [ fhir:v "314811" ] ; fhir:display [ fhir:v "Short stature due to GHSR deficiency" ] ] [ fhir:code [ fhir:v "314889" ] ; fhir:display [ fhir:v "Autosomal dominant proximal renal tubular acidosis" ] ] [ fhir:code [ fhir:v "314911" ] ; fhir:display [ fhir:v "Severe Canavan disease" ] ] [ fhir:code [ fhir:v "314918" ] ; fhir:display [ fhir:v "Mild Canavan disease" ] ] [ fhir:code [ fhir:v "314950" ] ; fhir:display [ fhir:v "Primary hypereosinophilic syndrome" ] ] [ fhir:code [ fhir:v "314962" ] ; fhir:display [ fhir:v "Secondary hypereosinophilic syndrome" ] ] [ fhir:code [ fhir:v "314970" ] ; fhir:display [ fhir:v "Lymphocytic hypereosinophilic syndrome" ] ] [ fhir:code [ fhir:v "314978" ] ; fhir:display [ fhir:v "X-linked non progressive cerebellar ataxia" ] ] [ fhir:code [ fhir:v "314993" ] ; fhir:display [ fhir:v "Cataract-congenital heart disease-neural tube defect syndrome" ] ] [ fhir:code [ fhir:v "315" ] ; fhir:display [ fhir:v "Erythrokeratoderma ''en cocardes''" ] ] [ fhir:code [ fhir:v "3151" ] ; fhir:display [ fhir:v "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome" ] ] [ fhir:code [ fhir:v "3152" ] ; fhir:display [ fhir:v "Sclerosteosis" ] ] [ fhir:code [ fhir:v "315306" ] ; fhir:display [ fhir:v "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form" ] ] [ fhir:code [ fhir:v "315311" ] ; fhir:display [ fhir:v "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form" ] ] [ fhir:code [ fhir:v "3156" ] ; fhir:display [ fhir:v "Senior-Loken syndrome" ] ] [ fhir:code [ fhir:v "3157" ] ; fhir:display [ fhir:v "Septo-optic dysplasia spectrum" ] ] [ fhir:code [ fhir:v "316" ] ; fhir:display [ fhir:v "Progressive symmetric erythrokeratodermia" ] ] [ fhir:code [ fhir:v "3161" ] ; fhir:display [ fhir:v "Congenital pulmonary sequestration" ] ] [ fhir:code [ fhir:v "3162" ] ; fhir:display [ fhir:v "Sézary syndrome" ] ] [ fhir:code [ fhir:v "3163" ] ; fhir:display [ fhir:v "SHORT syndrome" ] ] [ fhir:code [ fhir:v "3164" ] ; fhir:display [ fhir:v "Omphalocele syndrome, Shprintzen-Goldberg type" ] ] [ fhir:code [ fhir:v "3165" ] ; fhir:display [ fhir:v "Eosinophilic fasciitis" ] ] [ fhir:code [ fhir:v "3166" ] ; fhir:display [ fhir:v "Sialuria" ] ] [ fhir:code [ fhir:v "3167" ] ; fhir:display [ fhir:v "Siegler-Brewer-Carey syndrome" ] ] [ fhir:code [ fhir:v "3168" ] ; fhir:display [ fhir:v "Sillence syndrome" ] ] [ fhir:code [ fhir:v "3169" ] ; fhir:display [ fhir:v "Sirenomelia" ] ] [ fhir:code [ fhir:v "317" ] ; fhir:display [ fhir:v "Erythrokeratodermia variabilis" ] ] [ fhir:code [ fhir:v "31709" ] ; fhir:display [ fhir:v "Infantile convulsions and choreoathetosis" ] ] [ fhir:code [ fhir:v "3172" ] ; fhir:display [ fhir:v "Eyebrow duplication-syndactyly syndrome" ] ] [ fhir:code [ fhir:v "3173" ] ; fhir:display [ fhir:v "Infantile spasms-broad thumbs syndrome" ] ] [ fhir:code [ fhir:v "317425" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to DNA-PKcs deficiency" ] ] [ fhir:code [ fhir:v "317428" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to ORAI1 deficiency" ] ] [ fhir:code [ fhir:v "317430" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to STIM1 deficiency" ] ] [ fhir:code [ fhir:v "317473" ] ; fhir:display [ fhir:v "Pancytopenia due to IKZF1 mutations" ] ] [ fhir:code [ fhir:v "317476" ] ; fhir:display [ fhir:v "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" ] ] [ fhir:code [ fhir:v "3175" ] ; fhir:display [ fhir:v "X-linked spasticity-intellectual disability-epilepsy syndrome" ] ] [ fhir:code [ fhir:v "3176" ] ; fhir:display [ fhir:v "Spina bifida-hypospadias syndrome" ] ] [ fhir:code [ fhir:v "3177" ] ; fhir:display [ fhir:v "Spinocerebellar degeneration-corneal dystrophy syndrome" ] ] [ fhir:code [ fhir:v "318" ] ; fhir:display [ fhir:v "Acute erythroid leukemia" ] ] [ fhir:code [ fhir:v "3180" ] ; fhir:display [ fhir:v "Spondylocamptodactyly syndrome" ] ] [ fhir:code [ fhir:v "3181" ] ; fhir:display [ fhir:v "Sprengel deformity" ] ] [ fhir:code [ fhir:v "31824" ] ; fhir:display [ fhir:v "Colchicine poisoning" ] ] [ fhir:code [ fhir:v "31825" ] ; fhir:display [ fhir:v "Methanol poisoning" ] ] [ fhir:code [ fhir:v "31826" ] ; fhir:display [ fhir:v "Ethylene glycol poisoning" ] ] [ fhir:code [ fhir:v "31827" ] ; fhir:display [ fhir:v "Paraquat poisoning" ] ] [ fhir:code [ fhir:v "31828" ] ; fhir:display [ fhir:v "Digitalis poisoning" ] ] [ fhir:code [ fhir:v "31837" ] ; fhir:display [ fhir:v "Pulmonary venoocclusive disease" ] ] [ fhir:code [ fhir:v "3184" ] ; fhir:display [ fhir:v "Steatocystoma multiplex-natal teeth syndrome" ] ] [ fhir:code [ fhir:v "3186" ] ; fhir:display [ fhir:v "Holoprosencephaly-radial heart renal anomalies syndrome" ] ] [ fhir:code [ fhir:v "3189" ] ; fhir:display [ fhir:v "Congenital pulmonary valvar stenosis" ] ] [ fhir:code [ fhir:v "319" ] ; fhir:display [ fhir:v "Skeletal Ewing sarcoma" ] ] [ fhir:code [ fhir:v "3190" ] ; fhir:display [ fhir:v "Subpulmonary stenosis" ] ] [ fhir:code [ fhir:v "3191" ] ; fhir:display [ fhir:v "Subaortic stenosis-short stature syndrome" ] ] [ fhir:code [ fhir:v "319160" ] ; fhir:display [ fhir:v "Congenital myopathy with internal nuclei and atypical cores" ] ] [ fhir:code [ fhir:v "319171" ] ; fhir:display [ fhir:v "Distal 17p13.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "319182" ] ; fhir:display [ fhir:v "Wiedemann-Steiner syndrome" ] ] [ fhir:code [ fhir:v "319189" ] ; fhir:display [ fhir:v "Familial cortical myoclonus" ] ] [ fhir:code [ fhir:v "319192" ] ; fhir:display [ fhir:v "Diencephalic-mesencephalic junction dysplasia" ] ] [ fhir:code [ fhir:v "319195" ] ; fhir:display [ fhir:v "Chondroectodermal dysplasia with night blindness" ] ] [ fhir:code [ fhir:v "319199" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 53" ] ] [ fhir:code [ fhir:v "3192" ] ; fhir:display [ fhir:v "Supravalvular pulmonary stenosis" ] ] [ fhir:code [ fhir:v "319205" ] ; fhir:display [ fhir:v "Bilateral massive adrenal hemorrhage" ] ] [ fhir:code [ fhir:v "319213" ] ; fhir:display [ fhir:v "Lujo hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319218" ] ; fhir:display [ fhir:v "Ebola hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319223" ] ; fhir:display [ fhir:v "Argentine hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319229" ] ; fhir:display [ fhir:v "Bolivian hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319234" ] ; fhir:display [ fhir:v "Venezuelan hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319239" ] ; fhir:display [ fhir:v "Brazilian hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319244" ] ; fhir:display [ fhir:v "Chapare hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319247" ] ; fhir:display [ fhir:v "Hantavirus pulmonary syndrome" ] ] [ fhir:code [ fhir:v "319251" ] ; fhir:display [ fhir:v "Rift valley fever" ] ] [ fhir:code [ fhir:v "319254" ] ; fhir:display [ fhir:v "Kyasanur forest disease" ] ] [ fhir:code [ fhir:v "319266" ] ; fhir:display [ fhir:v "Omsk hemorrhagic fever" ] ] [ fhir:code [ fhir:v "319276" ] ; fhir:display [ fhir:v "Clear cell renal carcinoma" ] ] [ fhir:code [ fhir:v "319287" ] ; fhir:display [ fhir:v "Multilocular cystic renal neoplasm of low malignant potential" ] ] [ fhir:code [ fhir:v "319298" ] ; fhir:display [ fhir:v "Papillary renal cell carcinoma" ] ] [ fhir:code [ fhir:v "3193" ] ; fhir:display [ fhir:v "Supravalvular aortic stenosis" ] ] [ fhir:code [ fhir:v "319303" ] ; fhir:display [ fhir:v "Chromophobe renal cell carcinoma" ] ] [ fhir:code [ fhir:v "319308" ] ; fhir:display [ fhir:v "MiT family translocation renal cell carcinoma" ] ] [ fhir:code [ fhir:v "319319" ] ; fhir:display [ fhir:v "Renal medullary carcinoma" ] ] [ fhir:code [ fhir:v "319322" ] ; fhir:display [ fhir:v "Mucinous tubular and spindle cell renal carcinoma" ] ] [ fhir:code [ fhir:v "319325" ] ; fhir:display [ fhir:v "Tubulocystic renal cell carcinoma" ] ] [ fhir:code [ fhir:v "319332" ] ; fhir:display [ fhir:v "Autosomal recessive myogenic arthrogryposis multiplex congenita" ] ] [ fhir:code [ fhir:v "319340" ] ; fhir:display [ fhir:v "Carney complex-trismus-pseudocamptodactyly syndrome" ] ] [ fhir:code [ fhir:v "3194" ] ; fhir:display [ fhir:v "Corneodermatoosseous syndrome" ] ] [ fhir:code [ fhir:v "319462" ] ; fhir:display [ fhir:v "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" ] ] [ fhir:code [ fhir:v "319465" ] ; fhir:display [ fhir:v "Inherited acute myeloid leukemia" ] ] [ fhir:code [ fhir:v "319480" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with CEBPA somatic mutations" ] ] [ fhir:code [ fhir:v "319487" ] ; fhir:display [ fhir:v "Familial papillary or follicular thyroid carcinoma" ] ] [ fhir:code [ fhir:v "319504" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 8" ] ] [ fhir:code [ fhir:v "319509" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 9" ] ] [ fhir:code [ fhir:v "319514" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 13" ] ] [ fhir:code [ fhir:v "319519" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 14" ] ] [ fhir:code [ fhir:v "319524" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 15" ] ] [ fhir:code [ fhir:v "319547" ] ; fhir:display [ fhir:v "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" ] ] [ fhir:code [ fhir:v "319552" ] ; fhir:display [ fhir:v "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" ] ] [ fhir:code [ fhir:v "319558" ] ; fhir:display [ fhir:v "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" ] ] [ fhir:code [ fhir:v "319563" ] ; fhir:display [ fhir:v "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" ] ] [ fhir:code [ fhir:v "319569" ] ; fhir:display [ fhir:v "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" ] ] [ fhir:code [ fhir:v "319574" ] ; fhir:display [ fhir:v "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" ] ] [ fhir:code [ fhir:v "319581" ] ; fhir:display [ fhir:v "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" ] ] [ fhir:code [ fhir:v "319589" ] ; fhir:display [ fhir:v "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" ] ] [ fhir:code [ fhir:v "319595" ] ; fhir:display [ fhir:v "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" ] ] [ fhir:code [ fhir:v "3196" ] ; fhir:display [ fhir:v "Steroid dehydrogenase deficiency-dental anomalies syndrome" ] ] [ fhir:code [ fhir:v "319600" ] ; fhir:display [ fhir:v "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" ] ] [ fhir:code [ fhir:v "319605" ] ; fhir:display [ fhir:v "X-linked mendelian susceptibility to mycobacterial diseases" ] ] [ fhir:code [ fhir:v "319612" ] ; fhir:display [ fhir:v "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" ] ] [ fhir:code [ fhir:v "319623" ] ; fhir:display [ fhir:v "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" ] ] [ fhir:code [ fhir:v "319635" ] ; fhir:display [ fhir:v "Amyloidosis cutis dyschromia" ] ] [ fhir:code [ fhir:v "319640" ] ; fhir:display [ fhir:v "Retinal macular dystrophy type 2" ] ] [ fhir:code [ fhir:v "319646" ] ; fhir:display [ fhir:v "PGM1-CDG" ] ] [ fhir:code [ fhir:v "319651" ] ; fhir:display [ fhir:v "Constitutional megaloblastic anemia with severe neurologic disease" ] ] [ fhir:code [ fhir:v "319667" ] ; fhir:display [ fhir:v "Primary lymphoma of the conjunctiva" ] ] [ fhir:code [ fhir:v "319671" ] ; fhir:display [ fhir:v "Alazami syndrome" ] ] [ fhir:code [ fhir:v "319675" ] ; fhir:display [ fhir:v "Microcephalic primordial dwarfism, Dauber type" ] ] [ fhir:code [ fhir:v "319678" ] ; fhir:display [ fhir:v "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" ] ] [ fhir:code [ fhir:v "3197" ] ; fhir:display [ fhir:v "Hereditary hyperekplexia" ] ] [ fhir:code [ fhir:v "3198" ] ; fhir:display [ fhir:v "Stiff person spectrum disorder" ] ] [ fhir:code [ fhir:v "3199" ] ; fhir:display [ fhir:v "Stimmler syndrome" ] ] [ fhir:code [ fhir:v "32" ] ; fhir:display [ fhir:v "Glutathione synthetase deficiency" ] ] [ fhir:code [ fhir:v "320" ] ; fhir:display [ fhir:v "Apparent mineralocorticoid excess" ] ] [ fhir:code [ fhir:v "3200" ] ; fhir:display [ fhir:v "Arthrogryposis-ectodermal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "3201" ] ; fhir:display [ fhir:v "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome" ] ] [ fhir:code [ fhir:v "3202" ] ; fhir:display [ fhir:v "Dehydrated hereditary stomatocytosis" ] ] [ fhir:code [ fhir:v "3203" ] ; fhir:display [ fhir:v "Overhydrated hereditary stomatocytosis" ] ] [ fhir:code [ fhir:v "320355" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 41" ] ] [ fhir:code [ fhir:v "320360" ] ; fhir:display [ fhir:v "MT-ATP6-related mitochondrial spastic paraplegia" ] ] [ fhir:code [ fhir:v "320365" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 36" ] ] [ fhir:code [ fhir:v "320370" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 43" ] ] [ fhir:code [ fhir:v "320375" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 55" ] ] [ fhir:code [ fhir:v "320380" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 54" ] ] [ fhir:code [ fhir:v "320385" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation" ] ] [ fhir:code [ fhir:v "320391" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 46" ] ] [ fhir:code [ fhir:v "320396" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 45" ] ] [ fhir:code [ fhir:v "3204" ] ; fhir:display [ fhir:v "Stormorken-Sjaastad-Langslet syndrome" ] ] [ fhir:code [ fhir:v "320401" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 44" ] ] [ fhir:code [ fhir:v "320406" ] ; fhir:display [ fhir:v "Spastic paraplegia-optic atrophy-neuropathy syndrome" ] ] [ fhir:code [ fhir:v "320411" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 56" ] ] [ fhir:code [ fhir:v "3205" ] ; fhir:display [ fhir:v "Sturge-Weber syndrome" ] ] [ fhir:code [ fhir:v "3206" ] ; fhir:display [ fhir:v "Stüve-Wiedemann syndrome" ] ] [ fhir:code [ fhir:v "3207" ] ; fhir:display [ fhir:v "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "3208" ] ; fhir:display [ fhir:v "Isolated succinate-CoQ reductase deficiency" ] ] [ fhir:code [ fhir:v "321" ] ; fhir:display [ fhir:v "Multiple osteochondromas" ] ] [ fhir:code [ fhir:v "3210" ] ; fhir:display [ fhir:v "Summitt syndrome" ] ] [ fhir:code [ fhir:v "3214" ] ; fhir:display [ fhir:v "Deaf blind hypopigmentation syndrome, Yemenite type" ] ] [ fhir:code [ fhir:v "3216" ] ; fhir:display [ fhir:v "Conductive deafness-malformed external ear syndrome" ] ] [ fhir:code [ fhir:v "3217" ] ; fhir:display [ fhir:v "Deafness-small bowel diverticulosis-neuropathy syndrome" ] ] [ fhir:code [ fhir:v "3218" ] ; fhir:display [ fhir:v "Deafness-epiphyseal dysplasia-short stature syndrome" ] ] [ fhir:code [ fhir:v "3219" ] ; fhir:display [ fhir:v "Fountain syndrome" ] ] [ fhir:code [ fhir:v "322" ] ; fhir:display [ fhir:v "Exstrophy-epispadias complex" ] ] [ fhir:code [ fhir:v "3220" ] ; fhir:display [ fhir:v "Deafness-enamel hypoplasia-nail defects syndrome" ] ] [ fhir:code [ fhir:v "3222" ] ; fhir:display [ fhir:v "Phosphoribosylpyrophosphate synthetase superactivity" ] ] [ fhir:code [ fhir:v "3224" ] ; fhir:display [ fhir:v "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome" ] ] [ fhir:code [ fhir:v "3225" ] ; fhir:display [ fhir:v "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome" ] ] [ fhir:code [ fhir:v "3226" ] ; fhir:display [ fhir:v "Deafness-lymphedema-leukemia syndrome" ] ] [ fhir:code [ fhir:v "3230" ] ; fhir:display [ fhir:v "Deafness-oligodontia syndrome" ] ] [ fhir:code [ fhir:v "3232" ] ; fhir:display [ fhir:v "Deafness-ear malformation-facial palsy syndrome" ] ] [ fhir:code [ fhir:v "3233" ] ; fhir:display [ fhir:v "Cochleosaccular degeneration-cataract syndrome" ] ] [ fhir:code [ fhir:v "3235" ] ; fhir:display [ fhir:v "Progressive deafness with stapes fixation" ] ] [ fhir:code [ fhir:v "3236" ] ; fhir:display [ fhir:v "Conductive deafness-ptosis-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "3237" ] ; fhir:display [ fhir:v "Multiple synostoses syndrome" ] ] [ fhir:code [ fhir:v "3238" ] ; fhir:display [ fhir:v "Cardiospondylocarpofacial syndrome" ] ] [ fhir:code [ fhir:v "3239" ] ; fhir:display [ fhir:v "Deafness-vitiligo-achalasia syndrome" ] ] [ fhir:code [ fhir:v "324" ] ; fhir:display [ fhir:v "Fabry disease" ] ] [ fhir:code [ fhir:v "3240" ] ; fhir:display [ fhir:v "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome" ] ] [ fhir:code [ fhir:v "3241" ] ; fhir:display [ fhir:v "Deafness-craniofacial syndrome" ] ] [ fhir:code [ fhir:v "3242" ] ; fhir:display [ fhir:v "Renpenning syndrome" ] ] [ fhir:code [ fhir:v "324262" ] ; fhir:display [ fhir:v "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" ] ] [ fhir:code [ fhir:v "324290" ] ; fhir:display [ fhir:v "Early-onset Lafora body disease" ] ] [ fhir:code [ fhir:v "324294" ] ; fhir:display [ fhir:v "T-cell immunodeficiency with epidermodysplasia verruciformis" ] ] [ fhir:code [ fhir:v "324299" ] ; fhir:display [ fhir:v "Multiple paragangliomas associated with polycythemia" ] ] [ fhir:code [ fhir:v "3243" ] ; fhir:display [ fhir:v "Sweet syndrome" ] ] [ fhir:code [ fhir:v "324307" ] ; fhir:display [ fhir:v "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "324313" ] ; fhir:display [ fhir:v "9p13 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "324321" ] ; fhir:display [ fhir:v "Sinoatrial node dysfunction and deafness" ] ] [ fhir:code [ fhir:v "324353" ] ; fhir:display [ fhir:v "Congenital achiasma" ] ] [ fhir:code [ fhir:v "324364" ] ; fhir:display [ fhir:v "Mixed sclerosing bone dystrophy with extra-skeletal manifestations" ] ] [ fhir:code [ fhir:v "324381" ] ; fhir:display [ fhir:v "Hereditary inclusion body myopathy type 4" ] ] [ fhir:code [ fhir:v "324410" ] ; fhir:display [ fhir:v "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome" ] ] [ fhir:code [ fhir:v "324416" ] ; fhir:display [ fhir:v "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome" ] ] [ fhir:code [ fhir:v "324422" ] ; fhir:display [ fhir:v "ALG13-CDG" ] ] [ fhir:code [ fhir:v "324442" ] ; fhir:display [ fhir:v "Autosomal recessive axonal neuropathy with neuromyotonia" ] ] [ fhir:code [ fhir:v "324525" ] ; fhir:display [ fhir:v "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation" ] ] [ fhir:code [ fhir:v "324530" ] ; fhir:display [ fhir:v "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation" ] ] [ fhir:code [ fhir:v "324535" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 11" ] ] [ fhir:code [ fhir:v "324540" ] ; fhir:display [ fhir:v "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "324561" ] ; fhir:display [ fhir:v "Hypopigmentation-punctate palmoplantar keratoderma syndrome" ] ] [ fhir:code [ fhir:v "324569" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 8" ] ] [ fhir:code [ fhir:v "324575" ] ; fhir:display [ fhir:v "Hyperinsulinism due to HNF1A deficiency" ] ] [ fhir:code [ fhir:v "324581" ] ; fhir:display [ fhir:v "Benign Samaritan congenital myopathy" ] ] [ fhir:code [ fhir:v "324585" ] ; fhir:display [ fhir:v "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" ] ] [ fhir:code [ fhir:v "324588" ] ; fhir:display [ fhir:v "Familial dyskinesia and facial myokymia" ] ] [ fhir:code [ fhir:v "3246" ] ; fhir:display [ fhir:v "Symphalangism with multiple anomalies of hands and feet" ] ] [ fhir:code [ fhir:v "324601" ] ; fhir:display [ fhir:v "X-linked cleft palate and ankyloglossia" ] ] [ fhir:code [ fhir:v "324604" ] ; fhir:display [ fhir:v "Classic multiminicore myopathy" ] ] [ fhir:code [ fhir:v "324611" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation" ] ] [ fhir:code [ fhir:v "324625" ] ; fhir:display [ fhir:v "Chikungunya" ] ] [ fhir:code [ fhir:v "324632" ] ; fhir:display [ fhir:v "Hendra virus infection" ] ] [ fhir:code [ fhir:v "324636" ] ; fhir:display [ fhir:v "Autoerythrocyte sensitization syndrome" ] ] [ fhir:code [ fhir:v "324648" ] ; fhir:display [ fhir:v "Invasive non-typhoidal salmonellosis" ] ] [ fhir:code [ fhir:v "324703" ] ; fhir:display [ fhir:v "ABetaL34V amyloidosis" ] ] [ fhir:code [ fhir:v "324708" ] ; fhir:display [ fhir:v "ABeta amyloidosis, Iowa type" ] ] [ fhir:code [ fhir:v "324713" ] ; fhir:display [ fhir:v "ABeta amyloidosis, Italian type" ] ] [ fhir:code [ fhir:v "324718" ] ; fhir:display [ fhir:v "ABetaA21G amyloidosis" ] ] [ fhir:code [ fhir:v "324723" ] ; fhir:display [ fhir:v "ABeta amyloidosis, Arctic type" ] ] [ fhir:code [ fhir:v "324737" ] ; fhir:display [ fhir:v "SRD5A3-CDG" ] ] [ fhir:code [ fhir:v "3248" ] ; fhir:display [ fhir:v "Distal symphalangism" ] ] [ fhir:code [ fhir:v "324964" ] ; fhir:display [ fhir:v "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis" ] ] [ fhir:code [ fhir:v "324972" ] ; fhir:display [ fhir:v "MAGIC syndrome" ] ] [ fhir:code [ fhir:v "324977" ] ; fhir:display [ fhir:v "Proteasome-associated autoinflammatory syndrome" ] ] [ fhir:code [ fhir:v "325" ] ; fhir:display [ fhir:v "Congenital factor II deficiency" ] ] [ fhir:code [ fhir:v "3250" ] ; fhir:display [ fhir:v "Proximal symphalangism" ] ] [ fhir:code [ fhir:v "325124" ] ; fhir:display [ fhir:v "Testicular agenesis" ] ] [ fhir:code [ fhir:v "3253" ] ; fhir:display [ fhir:v "Cleft lip/palate-ectodermal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "325345" ] ; fhir:display [ fhir:v "46,XY ovotesticular difference of sex development" ] ] [ fhir:code [ fhir:v "325448" ] ; fhir:display [ fhir:v "Leydig cell hypoplasia due to LHB deficiency" ] ] [ fhir:code [ fhir:v "3255" ] ; fhir:display [ fhir:v "Filippi syndrome" ] ] [ fhir:code [ fhir:v "325524" ] ; fhir:display [ fhir:v "Classic congenital lipoid adrenal hyperplasia due to STAR deficency" ] ] [ fhir:code [ fhir:v "325529" ] ; fhir:display [ fhir:v "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency" ] ] [ fhir:code [ fhir:v "3258" ] ; fhir:display [ fhir:v "Cenani-Lenz syndrome" ] ] [ fhir:code [ fhir:v "3259" ] ; fhir:display [ fhir:v "Syndactyly-polydactyly-ear lobe syndrome" ] ] [ fhir:code [ fhir:v "326" ] ; fhir:display [ fhir:v "Congenital factor V deficiency" ] ] [ fhir:code [ fhir:v "3260" ] ; fhir:display [ fhir:v "Idiopathic hypereosinophilic syndrome" ] ] [ fhir:code [ fhir:v "3261" ] ; fhir:display [ fhir:v "Autoimmune lymphoproliferative syndrome" ] ] [ fhir:code [ fhir:v "3262" ] ; fhir:display [ fhir:v "Dobrow syndrome" ] ] [ fhir:code [ fhir:v "3263" ] ; fhir:display [ fhir:v "Syngnathia-cleft palate syndrome" ] ] [ fhir:code [ fhir:v "3265" ] ; fhir:display [ fhir:v "Humero-radial synostosis" ] ] [ fhir:code [ fhir:v "3266" ] ; fhir:display [ fhir:v "Humero-radio-ulnar synostosis" ] ] [ fhir:code [ fhir:v "3268" ] ; fhir:display [ fhir:v "Radioulnar synostosis-microcephaly-scoliosis syndrome" ] ] [ fhir:code [ fhir:v "3269" ] ; fhir:display [ fhir:v "Congenital radioulnar synostosis" ] ] [ fhir:code [ fhir:v "327" ] ; fhir:display [ fhir:v "Congenital factor VII deficiency" ] ] [ fhir:code [ fhir:v "3270" ] ; fhir:display [ fhir:v "Radioulnar synostosis-developmental delay-hypotonia syndrome" ] ] [ fhir:code [ fhir:v "3273" ] ; fhir:display [ fhir:v "Synovial sarcoma" ] ] [ fhir:code [ fhir:v "3275" ] ; fhir:display [ fhir:v "Spondylocarpotarsal synostosis" ] ] [ fhir:code [ fhir:v "328" ] ; fhir:display [ fhir:v "Congenital factor X deficiency" ] ] [ fhir:code [ fhir:v "3282" ] ; fhir:display [ fhir:v "Multifocal atrial tachycardia" ] ] [ fhir:code [ fhir:v "3283" ] ; fhir:display [ fhir:v "His bundle tachycardia" ] ] [ fhir:code [ fhir:v "3286" ] ; fhir:display [ fhir:v "Catecholaminergic polymorphic ventricular tachycardia" ] ] [ fhir:code [ fhir:v "3287" ] ; fhir:display [ fhir:v "Takayasu arteritis" ] ] [ fhir:code [ fhir:v "329" ] ; fhir:display [ fhir:v "Congenital factor XI deficiency" ] ] [ fhir:code [ fhir:v "3291" ] ; fhir:display [ fhir:v "Teebi-Shaltout syndrome" ] ] [ fhir:code [ fhir:v "329173" ] ; fhir:display [ fhir:v "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" ] ] [ fhir:code [ fhir:v "329178" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy with intellectual disability and severe epilepsy" ] ] [ fhir:code [ fhir:v "329191" ] ; fhir:display [ fhir:v "Tall stature-long halluces-multiple extra-epiphyses syndrome" ] ] [ fhir:code [ fhir:v "329195" ] ; fhir:display [ fhir:v "Developmental delay with autism spectrum disorder and gait instability" ] ] [ fhir:code [ fhir:v "3292" ] ; fhir:display [ fhir:v "Tel Hashomer camptodactyly syndrome" ] ] [ fhir:code [ fhir:v "329211" ] ; fhir:display [ fhir:v "Autosomal dominant neovascular inflammatory vitreoretinopathy" ] ] [ fhir:code [ fhir:v "329217" ] ; fhir:display [ fhir:v "Cerebral sinovenous thrombosis" ] ] [ fhir:code [ fhir:v "329224" ] ; fhir:display [ fhir:v "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" ] ] [ fhir:code [ fhir:v "329228" ] ; fhir:display [ fhir:v "Microcephalic primordial dwarfism due to ZNF335 deficiency" ] ] [ fhir:code [ fhir:v "329235" ] ; fhir:display [ fhir:v "X-linked central congenital hypothyroidism with late-onset testicular enlargement" ] ] [ fhir:code [ fhir:v "329242" ] ; fhir:display [ fhir:v "Congenital chronic diarrhea with protein-losing enteropathy" ] ] [ fhir:code [ fhir:v "329249" ] ; fhir:display [ fhir:v "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" ] ] [ fhir:code [ fhir:v "329258" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2Q" ] ] [ fhir:code [ fhir:v "329284" ] ; fhir:display [ fhir:v "Beta-propeller protein-associated neurodegeneration" ] ] [ fhir:code [ fhir:v "3293" ] ; fhir:display [ fhir:v "Telecanthus-hypertelorism-strabismus-pes cavus syndrome" ] ] [ fhir:code [ fhir:v "329308" ] ; fhir:display [ fhir:v "Fatty acid hydroxylase-associated neurodegeneration" ] ] [ fhir:code [ fhir:v "329314" ] ; fhir:display [ fhir:v "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" ] ] [ fhir:code [ fhir:v "329319" ] ; fhir:display [ fhir:v "Thrombocythemia with distal limb defects" ] ] [ fhir:code [ fhir:v "329324" ] ; fhir:display [ fhir:v "Inverse Klippel-Trénaunay syndrome" ] ] [ fhir:code [ fhir:v "329329" ] ; fhir:display [ fhir:v "Autosomal recessive frontotemporal pachygyria" ] ] [ fhir:code [ fhir:v "329332" ] ; fhir:display [ fhir:v "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome" ] ] [ fhir:code [ fhir:v "329336" ] ; fhir:display [ fhir:v "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" ] ] [ fhir:code [ fhir:v "3294" ] ; fhir:display [ fhir:v "Extensor tendons of finger anomalies" ] ] [ fhir:code [ fhir:v "329457" ] ; fhir:display [ fhir:v "Distal arthrogryposis type 5D" ] ] [ fhir:code [ fhir:v "329466" ] ; fhir:display [ fhir:v "Autosomal dominant focal dystonia, DYT25 type" ] ] [ fhir:code [ fhir:v "329469" ] ; fhir:display [ fhir:v "Acute megakaryoblastic leukemia without Down syndrome" ] ] [ fhir:code [ fhir:v "329475" ] ; fhir:display [ fhir:v "Spastic paraplegia-Paget disease of bone syndrome" ] ] [ fhir:code [ fhir:v "329478" ] ; fhir:display [ fhir:v "Adult-onset distal myopathy due to VCP mutation" ] ] [ fhir:code [ fhir:v "329481" ] ; fhir:display [ fhir:v "Lipoprotein glomerulopathy" ] ] [ fhir:code [ fhir:v "32960" ] ; fhir:display [ fhir:v "Tumor necrosis factor receptor 1 associated periodic syndrome" ] ] [ fhir:code [ fhir:v "329802" ] ; fhir:display [ fhir:v "5p13 microduplication syndrome" ] ] [ fhir:code [ fhir:v "329813" ] ; fhir:display [ fhir:v "Mosaic genome-wide paternal uniparental disomy" ] ] [ fhir:code [ fhir:v "329874" ] ; fhir:display [ fhir:v "Idiopathic giant cell myocarditis" ] ] [ fhir:code [ fhir:v "329883" ] ; fhir:display [ fhir:v "Non-hypoproteinemic hypertrophic gastropathy" ] ] [ fhir:code [ fhir:v "329894" ] ; fhir:display [ fhir:v "Juvenile overlap myositis" ] ] [ fhir:code [ fhir:v "3299" ] ; fhir:display [ fhir:v "Tetanus" ] ] [ fhir:code [ fhir:v "329903" ] ; fhir:display [ fhir:v "Immunoglobulin-mediated membranoproliferative glomerulonephritis" ] ] [ fhir:code [ fhir:v "329918" ] ; fhir:display [ fhir:v "C3 glomerulopathy" ] ] [ fhir:code [ fhir:v "329931" ] ; fhir:display [ fhir:v "C3 glomerulonephritis" ] ] [ fhir:code [ fhir:v "329942" ] ; fhir:display [ fhir:v "Transient neonatal multiple acyl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "329967" ] ; fhir:display [ fhir:v "Intermittent hydrarthrosis" ] ] [ fhir:code [ fhir:v "329971" ] ; fhir:display [ fhir:v "Generalized juvenile polyposis/juvenile polyposis coli" ] ] [ fhir:code [ fhir:v "329977" ] ; fhir:display [ fhir:v "Classic neuroendocrine tumor of appendix" ] ] [ fhir:code [ fhir:v "329984" ] ; fhir:display [ fhir:v "Goblet cell carcinoma" ] ] [ fhir:code [ fhir:v "33" ] ; fhir:display [ fhir:v "Isovaleric acidemia" ] ] [ fhir:code [ fhir:v "330" ] ; fhir:display [ fhir:v "Congenital factor XII deficiency" ] ] [ fhir:code [ fhir:v "330001" ] ; fhir:display [ fhir:v "Wild type ATTR amyloidosis" ] ] [ fhir:code [ fhir:v "33001" ] ; fhir:display [ fhir:v "Lymphedema-distichiasis syndrome" ] ] [ fhir:code [ fhir:v "330012" ] ; fhir:display [ fhir:v "High altitude pulmonary edema" ] ] [ fhir:code [ fhir:v "330015" ] ; fhir:display [ fhir:v "Lead poisoning" ] ] [ fhir:code [ fhir:v "330021" ] ; fhir:display [ fhir:v "Mercury poisoning" ] ] [ fhir:code [ fhir:v "330029" ] ; fhir:display [ fhir:v "Hypotrichosis-deafness syndrome" ] ] [ fhir:code [ fhir:v "330032" ] ; fhir:display [ fhir:v "Hemoglobin Lepore-beta-thalassemia syndrome" ] ] [ fhir:code [ fhir:v "330041" ] ; fhir:display [ fhir:v "Hemoglobin M disease" ] ] [ fhir:code [ fhir:v "330050" ] ; fhir:display [ fhir:v "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect" ] ] [ fhir:code [ fhir:v "330054" ] ; fhir:display [ fhir:v "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "330058" ] ; fhir:display [ fhir:v "Hydroa vacciniforme" ] ] [ fhir:code [ fhir:v "330061" ] ; fhir:display [ fhir:v "Actinic prurigo" ] ] [ fhir:code [ fhir:v "330064" ] ; fhir:display [ fhir:v "Chronic actinic dermatitis" ] ] [ fhir:code [ fhir:v "3301" ] ; fhir:display [ fhir:v "Tetraamelia-multiple malformations syndrome" ] ] [ fhir:code [ fhir:v "3303" ] ; fhir:display [ fhir:v "Tetralogy of Fallot" ] ] [ fhir:code [ fhir:v "3304" ] ; fhir:display [ fhir:v "Fallot complex-intellectual disability-growth delay syndrome" ] ] [ fhir:code [ fhir:v "3305" ] ; fhir:display [ fhir:v "Tetraploidy" ] ] [ fhir:code [ fhir:v "3306" ] ; fhir:display [ fhir:v "Inverted duplicated chromosome 15 syndrome" ] ] [ fhir:code [ fhir:v "33067" ] ; fhir:display [ fhir:v "Metaphyseal chondrodysplasia, Jansen type" ] ] [ fhir:code [ fhir:v "33069" ] ; fhir:display [ fhir:v "Dravet syndrome" ] ] [ fhir:code [ fhir:v "3307" ] ; fhir:display [ fhir:v "Tetrasomy 18p" ] ] [ fhir:code [ fhir:v "3309" ] ; fhir:display [ fhir:v "Tetrasomy 5p" ] ] [ fhir:code [ fhir:v "331" ] ; fhir:display [ fhir:v "Congenital factor XIII deficiency" ] ] [ fhir:code [ fhir:v "3310" ] ; fhir:display [ fhir:v "Tetrasomy 9p" ] ] [ fhir:code [ fhir:v "33108" ] ; fhir:display [ fhir:v "Lethal multiple pterygium syndrome" ] ] [ fhir:code [ fhir:v "33110" ] ; fhir:display [ fhir:v "Autosomal agammaglobulinemia" ] ] [ fhir:code [ fhir:v "33111" ] ; fhir:display [ fhir:v "Granulomatous slack skin" ] ] [ fhir:code [ fhir:v "331176" ] ; fhir:display [ fhir:v "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" ] ] [ fhir:code [ fhir:v "331187" ] ; fhir:display [ fhir:v "Immunodeficiency due to MASP-2 deficiency" ] ] [ fhir:code [ fhir:v "331190" ] ; fhir:display [ fhir:v "Immunodeficiency due to ficolin3 deficiency" ] ] [ fhir:code [ fhir:v "3312" ] ; fhir:display [ fhir:v "Thalidomide embryopathy" ] ] [ fhir:code [ fhir:v "331206" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to complete RAG1/2 deficiency" ] ] [ fhir:code [ fhir:v "331226" ] ; fhir:display [ fhir:v "Susceptibility to infection due to TYK2 deficiency" ] ] [ fhir:code [ fhir:v "331235" ] ; fhir:display [ fhir:v "Selective IgM deficiency" ] ] [ fhir:code [ fhir:v "3314" ] ; fhir:display [ fhir:v "Thiemann disease, familial form" ] ] [ fhir:code [ fhir:v "3316" ] ; fhir:display [ fhir:v "Thomas syndrome" ] ] [ fhir:code [ fhir:v "3317" ] ; fhir:display [ fhir:v "Thoracolaryngopelvic dysplasia" ] ] [ fhir:code [ fhir:v "3318" ] ; fhir:display [ fhir:v "Essential thrombocythemia" ] ] [ fhir:code [ fhir:v "3319" ] ; fhir:display [ fhir:v "Congenital amegakaryocytic thrombocytopenia" ] ] [ fhir:code [ fhir:v "332" ] ; fhir:display [ fhir:v "Congenital intrinsic factor deficiency" ] ] [ fhir:code [ fhir:v "3320" ] ; fhir:display [ fhir:v "Thrombocytopenia-absent radius syndrome" ] ] [ fhir:code [ fhir:v "33208" ] ; fhir:display [ fhir:v "Idiopathic hypersomnia" ] ] [ fhir:code [ fhir:v "3322" ] ; fhir:display [ fhir:v "Hoyeraal-Hreidarsson syndrome" ] ] [ fhir:code [ fhir:v "33226" ] ; fhir:display [ fhir:v "Waldenström macroglobulinemia" ] ] [ fhir:code [ fhir:v "3324" ] ; fhir:display [ fhir:v "Familial thrombomodulin anomalies" ] ] [ fhir:code [ fhir:v "3325" ] ; fhir:display [ fhir:v "Heparin-induced thrombocytopenia" ] ] [ fhir:code [ fhir:v "3326" ] ; fhir:display [ fhir:v "Thymic-renal-anal-lung dysplasia" ] ] [ fhir:code [ fhir:v "3327" ] ; fhir:display [ fhir:v "Thyrocerebrorenal syndrome" ] ] [ fhir:code [ fhir:v "33276" ] ; fhir:display [ fhir:v "Kaposi sarcoma" ] ] [ fhir:code [ fhir:v "3328" ] ; fhir:display [ fhir:v "Absent tibia-polydactyly-arachnoid cyst syndrome" ] ] [ fhir:code [ fhir:v "3329" ] ; fhir:display [ fhir:v "Tibial aplasia-ectrodactyly syndrome" ] ] [ fhir:code [ fhir:v "333" ] ; fhir:display [ fhir:v "Farber disease" ] ] [ fhir:code [ fhir:v "33314" ] ; fhir:display [ fhir:v "Jessner lymphocytic infiltration of the skin" ] ] [ fhir:code [ fhir:v "33355" ] ; fhir:display [ fhir:v "Reticular dysgenesis" ] ] [ fhir:code [ fhir:v "33364" ] ; fhir:display [ fhir:v "Trichothiodystrophy" ] ] [ fhir:code [ fhir:v "3337" ] ; fhir:display [ fhir:v "Primary Fanconi renotubular syndrome" ] ] [ fhir:code [ fhir:v "3338" ] ; fhir:display [ fhir:v "Toriello-Carey syndrome" ] ] [ fhir:code [ fhir:v "3339" ] ; fhir:display [ fhir:v "Toriello-Lacassie-Droste syndrome" ] ] [ fhir:code [ fhir:v "334" ] ; fhir:display [ fhir:v "Familial atrial fibrillation" ] ] [ fhir:code [ fhir:v "33402" ] ; fhir:display [ fhir:v "Pediatric hepatocellular carcinoma" ] ] [ fhir:code [ fhir:v "33408" ] ; fhir:display [ fhir:v "Bullous lichen planus" ] ] [ fhir:code [ fhir:v "3341" ] ; fhir:display [ fhir:v "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "3342" ] ; fhir:display [ fhir:v "Arterial tortuosity syndrome" ] ] [ fhir:code [ fhir:v "3343" ] ; fhir:display [ fhir:v "Toxocariasis" ] ] [ fhir:code [ fhir:v "3344" ] ; fhir:display [ fhir:v "Weismann-Netter syndrome" ] ] [ fhir:code [ fhir:v "33445" ] ; fhir:display [ fhir:v "Neuroectodermal melanolysosomal disease" ] ] [ fhir:code [ fhir:v "3346" ] ; fhir:display [ fhir:v "Tracheal agenesis" ] ] [ fhir:code [ fhir:v "3347" ] ; fhir:display [ fhir:v "Mounier-Kühn syndrome" ] ] [ fhir:code [ fhir:v "33475" ] ; fhir:display [ fhir:v "Meningococcal meningitis" ] ] [ fhir:code [ fhir:v "3348" ] ; fhir:display [ fhir:v "Tracheobronchopathia osteochondroplastica" ] ] [ fhir:code [ fhir:v "335" ] ; fhir:display [ fhir:v "Congenital fibrinogen deficiency" ] ] [ fhir:code [ fhir:v "3350" ] ; fhir:display [ fhir:v "Tremor-nystagmus-duodenal ulcer syndrome" ] ] [ fhir:code [ fhir:v "3351" ] ; fhir:display [ fhir:v "Trichodental syndrome" ] ] [ fhir:code [ fhir:v "3352" ] ; fhir:display [ fhir:v "Tricho-dento-osseous syndrome" ] ] [ fhir:code [ fhir:v "3353" ] ; fhir:display [ fhir:v "Trichodermodysplasia-dental alterations syndrome" ] ] [ fhir:code [ fhir:v "33543" ] ; fhir:display [ fhir:v "Kleine-Levin syndrome" ] ] [ fhir:code [ fhir:v "3355" ] ; fhir:display [ fhir:v "Trichoodontoonychial dysplasia" ] ] [ fhir:code [ fhir:v "33572" ] ; fhir:display [ fhir:v "5-oxoprolinase deficiency" ] ] [ fhir:code [ fhir:v "33573" ] ; fhir:display [ fhir:v "Gamma-glutamyl transpeptidase deficiency" ] ] [ fhir:code [ fhir:v "33574" ] ; fhir:display [ fhir:v "Glutamate-cysteine ligase deficiency" ] ] [ fhir:code [ fhir:v "33577" ] ; fhir:display [ fhir:v "Nodular non-suppurative panniculitis" ] ] [ fhir:code [ fhir:v "3361" ] ; fhir:display [ fhir:v "Trichodysplasia-xeroderma syndrome" ] ] [ fhir:code [ fhir:v "3363" ] ; fhir:display [ fhir:v "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome" ] ] [ fhir:code [ fhir:v "3365" ] ; fhir:display [ fhir:v "Trigonocephaly-broad thumbs syndrome" ] ] [ fhir:code [ fhir:v "3366" ] ; fhir:display [ fhir:v "Non-syndromic metopic craniosynostosis" ] ] [ fhir:code [ fhir:v "3368" ] ; fhir:display [ fhir:v "Trigonocephaly-bifid nose-acral anomalies syndrome" ] ] [ fhir:code [ fhir:v "3369" ] ; fhir:display [ fhir:v "Trigonocephaly-short stature-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "337" ] ; fhir:display [ fhir:v "Fibrodysplasia ossificans progressiva" ] ] [ fhir:code [ fhir:v "3374" ] ; fhir:display [ fhir:v "Unilateral ocular duplication" ] ] [ fhir:code [ fhir:v "3375" ] ; fhir:display [ fhir:v "Trisomy X" ] ] [ fhir:code [ fhir:v "3376" ] ; fhir:display [ fhir:v "Triploidy" ] ] [ fhir:code [ fhir:v "3377" ] ; fhir:display [ fhir:v "Trismus-pseudocamptodactyly syndrome" ] ] [ fhir:code [ fhir:v "3378" ] ; fhir:display [ fhir:v "Trisomy 13" ] ] [ fhir:code [ fhir:v "3379" ] ; fhir:display [ fhir:v "Distal duplication 17q" ] ] [ fhir:code [ fhir:v "3380" ] ; fhir:display [ fhir:v "Trisomy 18" ] ] [ fhir:code [ fhir:v "3383" ] ; fhir:display [ fhir:v "Humerus trochlea aplasia" ] ] [ fhir:code [ fhir:v "3384" ] ; fhir:display [ fhir:v "Truncus arteriosus" ] ] [ fhir:code [ fhir:v "3385" ] ; fhir:display [ fhir:v "African trypanosomiasis" ] ] [ fhir:code [ fhir:v "3386" ] ; fhir:display [ fhir:v "American trypanosomiasis" ] ] [ fhir:code [ fhir:v "3387" ] ; fhir:display [ fhir:v "Isolated anterior cervical hypertrichosis" ] ] [ fhir:code [ fhir:v "3392" ] ; fhir:display [ fhir:v "Tularemia" ] ] [ fhir:code [ fhir:v "340" ] ; fhir:display [ fhir:v "Hemorrhagic fever-renal syndrome" ] ] [ fhir:code [ fhir:v "3400" ] ; fhir:display [ fhir:v "Aorto-ventricular tunnel" ] ] [ fhir:code [ fhir:v "3402" ] ; fhir:display [ fhir:v "Transient tyrosinemia of the newborn" ] ] [ fhir:code [ fhir:v "3403" ] ; fhir:display [ fhir:v "Uhl anomaly" ] ] [ fhir:code [ fhir:v "3404" ] ; fhir:display [ fhir:v "Ulbright-Hodes syndrome" ] ] [ fhir:code [ fhir:v "3405" ] ; fhir:display [ fhir:v "Umbilical cord ulceration-intestinal atresia syndrome" ] ] [ fhir:code [ fhir:v "3406" ] ; fhir:display [ fhir:v "Ulerythema ophryogenesis" ] ] [ fhir:code [ fhir:v "3408" ] ; fhir:display [ fhir:v "Upington disease" ] ] [ fhir:code [ fhir:v "3409" ] ; fhir:display [ fhir:v "Urban-Rogers-Meyer syndrome" ] ] [ fhir:code [ fhir:v "3411" ] ; fhir:display [ fhir:v "Double uterus-hemivagina-renal agenesis syndrome" ] ] [ fhir:code [ fhir:v "3412" ] ; fhir:display [ fhir:v "VACTERL with hydrocephalus" ] ] [ fhir:code [ fhir:v "34149" ] ; fhir:display [ fhir:v "Autosomal dominant tubulointerstitial kidney disease" ] ] [ fhir:code [ fhir:v "3416" ] ; fhir:display [ fhir:v "Hyperostosis corticalis generalisata" ] ] [ fhir:code [ fhir:v "3417" ] ; fhir:display [ fhir:v "Van den Bosch syndrome" ] ] [ fhir:code [ fhir:v "342" ] ; fhir:display [ fhir:v "Familial Mediterranean fever" ] ] [ fhir:code [ fhir:v "34217" ] ; fhir:display [ fhir:v "Naxos disease" ] ] [ fhir:code [ fhir:v "3424" ] ; fhir:display [ fhir:v "Velo-facial-skeletal syndrome" ] ] [ fhir:code [ fhir:v "3426" ] ; fhir:display [ fhir:v "Double outlet right ventricle" ] ] [ fhir:code [ fhir:v "3427" ] ; fhir:display [ fhir:v "Double outlet left ventricle" ] ] [ fhir:code [ fhir:v "3429" ] ; fhir:display [ fhir:v "Verloove Vanhorick-Brubakk syndrome" ] ] [ fhir:code [ fhir:v "343" ] ; fhir:display [ fhir:v "Hyperimmunoglobulinemia D with periodic fever" ] ] [ fhir:code [ fhir:v "3433" ] ; fhir:display [ fhir:v "Microcephaly-brachydactyly-kyphoscoliosis syndrome" ] ] [ fhir:code [ fhir:v "3434" ] ; fhir:display [ fhir:v "MMEP syndrome" ] ] [ fhir:code [ fhir:v "3437" ] ; fhir:display [ fhir:v "Vogt-Koyanagi-Harada disease" ] ] [ fhir:code [ fhir:v "3439" ] ; fhir:display [ fhir:v "Von Voss-Cherstvoy syndrome" ] ] [ fhir:code [ fhir:v "3440" ] ; fhir:display [ fhir:v "Waardenburg syndrome" ] ] [ fhir:code [ fhir:v "3447" ] ; fhir:display [ fhir:v "Weaver syndrome" ] ] [ fhir:code [ fhir:v "3448" ] ; fhir:display [ fhir:v "Weaver-Williams syndrome" ] ] [ fhir:code [ fhir:v "3449" ] ; fhir:display [ fhir:v "Weill-Marchesani syndrome" ] ] [ fhir:code [ fhir:v "345" ] ; fhir:display [ fhir:v "Dissecting cellulitis of the scalp" ] ] [ fhir:code [ fhir:v "3451" ] ; fhir:display [ fhir:v "Infantile spasms syndrome" ] ] [ fhir:code [ fhir:v "34514" ] ; fhir:display [ fhir:v "Telethonin-related limb-girdle muscular dystrophy R7" ] ] [ fhir:code [ fhir:v "34515" ] ; fhir:display [ fhir:v "FKRP-related limb-girdle muscular dystrophy R9" ] ] [ fhir:code [ fhir:v "34516" ] ; fhir:display [ fhir:v "DNAJB6-related limb-girdle muscular dystrophy D1" ] ] [ fhir:code [ fhir:v "3452" ] ; fhir:display [ fhir:v "Whipple disease" ] ] [ fhir:code [ fhir:v "34520" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy with integrin alpha-7 deficiency" ] ] [ fhir:code [ fhir:v "34528" ] ; fhir:display [ fhir:v "Autosomal dominant primary hypomagnesemia with hypocalciuria" ] ] [ fhir:code [ fhir:v "3453" ] ; fhir:display [ fhir:v "Autoimmune polyendocrinopathy type 1" ] ] [ fhir:code [ fhir:v "3454" ] ; fhir:display [ fhir:v "Intellectual disability-developmental delay-contractures syndrome" ] ] [ fhir:code [ fhir:v "3455" ] ; fhir:display [ fhir:v "Wiedemann-Rautenstrauch syndrome" ] ] [ fhir:code [ fhir:v "3456" ] ; fhir:display [ fhir:v "Wildervanck syndrome" ] ] [ fhir:code [ fhir:v "34587" ] ; fhir:display [ fhir:v "Glycogen storage disease due to LAMP-2 deficiency" ] ] [ fhir:code [ fhir:v "3459" ] ; fhir:display [ fhir:v "Wilson-Turner syndrome" ] ] [ fhir:code [ fhir:v "34592" ] ; fhir:display [ fhir:v "Immunodeficiency by defective expression of MHC class I" ] ] [ fhir:code [ fhir:v "346" ] ; fhir:display [ fhir:v "Quinquaud folliculitis decalvans" ] ] [ fhir:code [ fhir:v "3463" ] ; fhir:display [ fhir:v "Wolfram syndrome" ] ] [ fhir:code [ fhir:v "3464" ] ; fhir:display [ fhir:v "Woodhouse-Sakati syndrome" ] ] [ fhir:code [ fhir:v "3465" ] ; fhir:display [ fhir:v "Worster-Drought syndrome" ] ] [ fhir:code [ fhir:v "3466" ] ; fhir:display [ fhir:v "WT limb-blood syndrome" ] ] [ fhir:code [ fhir:v "3467" ] ; fhir:display [ fhir:v "Hereditary xanthinuria" ] ] [ fhir:code [ fhir:v "3469" ] ; fhir:display [ fhir:v "XK aprosencephaly syndrome" ] ] [ fhir:code [ fhir:v "347" ] ; fhir:display [ fhir:v "Frasier syndrome" ] ] [ fhir:code [ fhir:v "3471" ] ; fhir:display [ fhir:v "Young syndrome" ] ] [ fhir:code [ fhir:v "3472" ] ; fhir:display [ fhir:v "Yunis-Varon syndrome" ] ] [ fhir:code [ fhir:v "3473" ] ; fhir:display [ fhir:v "Zimmermann-Laband syndrome" ] ] [ fhir:code [ fhir:v "3474" ] ; fhir:display [ fhir:v "CHIME syndrome" ] ] [ fhir:code [ fhir:v "348" ] ; fhir:display [ fhir:v "Fructose-1,6-bisphosphatase deficiency" ] ] [ fhir:code [ fhir:v "349" ] ; fhir:display [ fhir:v "Fucosidosis" ] ] [ fhir:code [ fhir:v "35" ] ; fhir:display [ fhir:v "Propionic acidemia" ] ] [ fhir:code [ fhir:v "35062" ] ; fhir:display [ fhir:v "Severe disseminated cytomegalovirus infection in immunocompetent patients" ] ] [ fhir:code [ fhir:v "35063" ] ; fhir:display [ fhir:v "Fulminant viral hepatitis" ] ] [ fhir:code [ fhir:v "35069" ] ; fhir:display [ fhir:v "Infantile neuroaxonal dystrophy" ] ] [ fhir:code [ fhir:v "35078" ] ; fhir:display [ fhir:v "T-B+ severe combined immunodeficiency due to JAK3 deficiency" ] ] [ fhir:code [ fhir:v "35093" ] ; fhir:display [ fhir:v "Non-syndromic sagittal craniosynostosis" ] ] [ fhir:code [ fhir:v "35099" ] ; fhir:display [ fhir:v "Non-syndromic bicoronal craniosynostosis" ] ] [ fhir:code [ fhir:v "351" ] ; fhir:display [ fhir:v "Galactosialidosis" ] ] [ fhir:code [ fhir:v "35107" ] ; fhir:display [ fhir:v "Desmosterolosis" ] ] [ fhir:code [ fhir:v "35120" ] ; fhir:display [ fhir:v "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" ] ] [ fhir:code [ fhir:v "35121" ] ; fhir:display [ fhir:v "Lysosomal acid phosphatase deficiency" ] ] [ fhir:code [ fhir:v "35122" ] ; fhir:display [ fhir:v "Congenital sucrase-isomaltase deficiency" ] ] [ fhir:code [ fhir:v "35125" ] ; fhir:display [ fhir:v "Epidermal nevus syndrome" ] ] [ fhir:code [ fhir:v "35173" ] ; fhir:display [ fhir:v "X-linked dominant chondrodysplasia punctata" ] ] [ fhir:code [ fhir:v "352328" ] ; fhir:display [ fhir:v "MEGDEL syndrome" ] ] [ fhir:code [ fhir:v "352333" ] ; fhir:display [ fhir:v "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome" ] ] [ fhir:code [ fhir:v "352403" ] ; fhir:display [ fhir:v "Spectrin-associated autosomal recessive cerebellar ataxia" ] ] [ fhir:code [ fhir:v "352447" ] ; fhir:display [ fhir:v "Progressive external ophthalmoplegia-myopathy-emaciation syndrome" ] ] [ fhir:code [ fhir:v "352470" ] ; fhir:display [ fhir:v "DNA2-related mitochondrial DNA deletion syndrome" ] ] [ fhir:code [ fhir:v "352479" ] ; fhir:display [ fhir:v "ISPD-related limb-girdle muscular dystrophy R20" ] ] [ fhir:code [ fhir:v "352490" ] ; fhir:display [ fhir:v "Autism spectrum disorder due to AUTS2 deficiency" ] ] [ fhir:code [ fhir:v "352530" ] ; fhir:display [ fhir:v "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "352540" ] ; fhir:display [ fhir:v "Oncogenic osteomalacia" ] ] [ fhir:code [ fhir:v "352563" ] ; fhir:display [ fhir:v "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" ] ] [ fhir:code [ fhir:v "352577" ] ; fhir:display [ fhir:v "Bainbridge-Ropers syndrome" ] ] [ fhir:code [ fhir:v "352582" ] ; fhir:display [ fhir:v "Familial infantile myoclonic epilepsy" ] ] [ fhir:code [ fhir:v "352587" ] ; fhir:display [ fhir:v "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation" ] ] [ fhir:code [ fhir:v "352596" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy with dystonia" ] ] [ fhir:code [ fhir:v "352629" ] ; fhir:display [ fhir:v "16q24.1 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "352636" ] ; fhir:display [ fhir:v "Phalangeal microgeodic syndrome" ] ] [ fhir:code [ fhir:v "352641" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia with late-onset spasticity" ] ] [ fhir:code [ fhir:v "352649" ] ; fhir:display [ fhir:v "Brain dopamine-serotonin vesicular transport disease" ] ] [ fhir:code [ fhir:v "352654" ] ; fhir:display [ fhir:v "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" ] ] [ fhir:code [ fhir:v "352657" ] ; fhir:display [ fhir:v "Hereditary benign intraepithelial dyskeratosis" ] ] [ fhir:code [ fhir:v "352662" ] ; fhir:display [ fhir:v "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome" ] ] [ fhir:code [ fhir:v "352665" ] ; fhir:display [ fhir:v "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion" ] ] [ fhir:code [ fhir:v "352670" ] ; fhir:display [ fhir:v "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F" ] ] [ fhir:code [ fhir:v "352675" ] ; fhir:display [ fhir:v "X-linked Charcot-Marie-Tooth disease type 6" ] ] [ fhir:code [ fhir:v "352682" ] ; fhir:display [ fhir:v "Cobblestone lissencephaly without muscular or ocular involvement" ] ] [ fhir:code [ fhir:v "352709" ] ; fhir:display [ fhir:v "CLN13 disease" ] ] [ fhir:code [ fhir:v "352712" ] ; fhir:display [ fhir:v "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome" ] ] [ fhir:code [ fhir:v "352718" ] ; fhir:display [ fhir:v "Progressive retinal dystrophy due to retinol transport defect" ] ] [ fhir:code [ fhir:v "352723" ] ; fhir:display [ fhir:v "Attenuated Chédiak-Higashi syndrome" ] ] [ fhir:code [ fhir:v "352731" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 1" ] ] [ fhir:code [ fhir:v "352734" ] ; fhir:display [ fhir:v "Minimal pigment oculocutaneous albinism type 1" ] ] [ fhir:code [ fhir:v "352737" ] ; fhir:display [ fhir:v "Temperature-sensitive oculocutaneous albinism type 1" ] ] [ fhir:code [ fhir:v "352745" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 7" ] ] [ fhir:code [ fhir:v "352763" ] ; fhir:display [ fhir:v "Scleredema" ] ] [ fhir:code [ fhir:v "353" ] ; fhir:display [ fhir:v "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5" ] ] [ fhir:code [ fhir:v "353217" ] ; fhir:display [ fhir:v "Epileptic encephalopathy with global cerebral demyelination" ] ] [ fhir:code [ fhir:v "353220" ] ; fhir:display [ fhir:v "Familial primary localized cutaneous amyloidosis" ] ] [ fhir:code [ fhir:v "353253" ] ; fhir:display [ fhir:v "Burning mouth syndrome" ] ] [ fhir:code [ fhir:v "353277" ] ; fhir:display [ fhir:v "Rubinstein-Taybi syndrome due to CREBBP mutations" ] ] [ fhir:code [ fhir:v "353281" ] ; fhir:display [ fhir:v "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion" ] ] [ fhir:code [ fhir:v "353284" ] ; fhir:display [ fhir:v "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" ] ] [ fhir:code [ fhir:v "353298" ] ; fhir:display [ fhir:v "Roifman syndrome" ] ] [ fhir:code [ fhir:v "353308" ] ; fhir:display [ fhir:v "Pyruvate carboxylase deficiency, infantile type" ] ] [ fhir:code [ fhir:v "353314" ] ; fhir:display [ fhir:v "Pyruvate carboxylase deficiency, severe neonatal type" ] ] [ fhir:code [ fhir:v "353320" ] ; fhir:display [ fhir:v "Pyruvate carboxylase deficiency, benign type" ] ] [ fhir:code [ fhir:v "353327" ] ; fhir:display [ fhir:v "Congenital myasthenic syndromes with glycosylation defect" ] ] [ fhir:code [ fhir:v "353334" ] ; fhir:display [ fhir:v "Congenital retinal arteriovenous communication" ] ] [ fhir:code [ fhir:v "353344" ] ; fhir:display [ fhir:v "Idiopathic macular telangiectasia type 1" ] ] [ fhir:code [ fhir:v "353351" ] ; fhir:display [ fhir:v "Idiopathic macular telangiectasia type 3" ] ] [ fhir:code [ fhir:v "353356" ] ; fhir:display [ fhir:v "Vasoproliferative tumor of the retina" ] ] [ fhir:code [ fhir:v "354" ] ; fhir:display [ fhir:v "GM1 gangliosidosis" ] ] [ fhir:code [ fhir:v "355" ] ; fhir:display [ fhir:v "Gaucher disease" ] ] [ fhir:code [ fhir:v "356" ] ; fhir:display [ fhir:v "Gerstmann-Straussler-Scheinker syndrome" ] ] [ fhir:code [ fhir:v "35612" ] ; fhir:display [ fhir:v "Nanophthalmos" ] ] [ fhir:code [ fhir:v "35664" ] ; fhir:display [ fhir:v "ALDH18A1-related De Barsy syndrome" ] ] [ fhir:code [ fhir:v "35686" ] ; fhir:display [ fhir:v "Serpiginous choroiditis" ] ] [ fhir:code [ fhir:v "35687" ] ; fhir:display [ fhir:v "Erdheim-Chester disease" ] ] [ fhir:code [ fhir:v "35689" ] ; fhir:display [ fhir:v "Primary lateral sclerosis" ] ] [ fhir:code [ fhir:v "356947" ] ; fhir:display [ fhir:v "3q26q27 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "356961" ] ; fhir:display [ fhir:v "SLC35A2-CDG" ] ] [ fhir:code [ fhir:v "356978" ] ; fhir:display [ fhir:v "D,L-2-hydroxyglutaric aciduria" ] ] [ fhir:code [ fhir:v "356996" ] ; fhir:display [ fhir:v "ANK3-related intellectual disability-sleep disturbance syndrome" ] ] [ fhir:code [ fhir:v "357001" ] ; fhir:display [ fhir:v "19p13.13 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "357008" ] ; fhir:display [ fhir:v "Hemolytic uremic syndrome with DGKE deficiency" ] ] [ fhir:code [ fhir:v "35701" ] ; fhir:display [ fhir:v "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" ] ] [ fhir:code [ fhir:v "357027" ] ; fhir:display [ fhir:v "Hereditary retinoblastoma" ] ] [ fhir:code [ fhir:v "357034" ] ; fhir:display [ fhir:v "Non-hereditary retinoblastoma" ] ] [ fhir:code [ fhir:v "35704" ] ; fhir:display [ fhir:v "L-Arginine:glycine amidinotransferase deficiency" ] ] [ fhir:code [ fhir:v "357043" ] ; fhir:display [ fhir:v "Amyotrophic lateral sclerosis type 4" ] ] [ fhir:code [ fhir:v "357058" ] ; fhir:display [ fhir:v "Autosomal recessive cutis laxa type 2A" ] ] [ fhir:code [ fhir:v "35706" ] ; fhir:display [ fhir:v "Glutaric acidemia type 3" ] ] [ fhir:code [ fhir:v "357064" ] ; fhir:display [ fhir:v "Autosomal recessive cutis laxa type 2B" ] ] [ fhir:code [ fhir:v "357074" ] ; fhir:display [ fhir:v "Autosomal recessive cutis laxa type 2, classic type" ] ] [ fhir:code [ fhir:v "35708" ] ; fhir:display [ fhir:v "Aromatic L-amino acid decarboxylase deficiency" ] ] [ fhir:code [ fhir:v "35710" ] ; fhir:display [ fhir:v "Glucose-galactose malabsorption" ] ] [ fhir:code [ fhir:v "357107" ] ; fhir:display [ fhir:v "Arterial thoracic outlet syndrome" ] ] [ fhir:code [ fhir:v "357131" ] ; fhir:display [ fhir:v "Venous thoracic outlet syndrome" ] ] [ fhir:code [ fhir:v "357154" ] ; fhir:display [ fhir:v "Oral submucous fibrosis" ] ] [ fhir:code [ fhir:v "357158" ] ; fhir:display [ fhir:v "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome" ] ] [ fhir:code [ fhir:v "357175" ] ; fhir:display [ fhir:v "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "357220" ] ; fhir:display [ fhir:v "Primary essential cutis verticis gyrata" ] ] [ fhir:code [ fhir:v "357225" ] ; fhir:display [ fhir:v "Primary non-essential cutis verticis gyrata" ] ] [ fhir:code [ fhir:v "357237" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to CARD11 deficiency" ] ] [ fhir:code [ fhir:v "357329" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to IL21R deficiency" ] ] [ fhir:code [ fhir:v "357332" ] ; fhir:display [ fhir:v "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome" ] ] [ fhir:code [ fhir:v "35737" ] ; fhir:display [ fhir:v "Morning glory disc anomaly" ] ] [ fhir:code [ fhir:v "358" ] ; fhir:display [ fhir:v "Gitelman syndrome" ] ] [ fhir:code [ fhir:v "35858" ] ; fhir:display [ fhir:v "Imerslund-Gräsbeck syndrome" ] ] [ fhir:code [ fhir:v "35878" ] ; fhir:display [ fhir:v "Hyperinsulinism-hyperammonemia syndrome" ] ] [ fhir:code [ fhir:v "35889" ] ; fhir:display [ fhir:v "Acute opioid intoxication" ] ] [ fhir:code [ fhir:v "35909" ] ; fhir:display [ fhir:v "Combined deficiency of factor V and factor VIII" ] ] [ fhir:code [ fhir:v "36" ] ; fhir:display [ fhir:v "Acrocallosal syndrome" ] ] [ fhir:code [ fhir:v "360" ] ; fhir:display [ fhir:v "Glioblastoma" ] ] [ fhir:code [ fhir:v "361" ] ; fhir:display [ fhir:v "Familial glucocorticoid deficiency" ] ] [ fhir:code [ fhir:v "36234" ] ; fhir:display [ fhir:v "Bacterial toxic-shock syndrome" ] ] [ fhir:code [ fhir:v "36235" ] ; fhir:display [ fhir:v "Staphylococcal scarlet fever" ] ] [ fhir:code [ fhir:v "36236" ] ; fhir:display [ fhir:v "Staphylococcal scalded skin syndrome" ] ] [ fhir:code [ fhir:v "36237" ] ; fhir:display [ fhir:v "Bullous impetigo" ] ] [ fhir:code [ fhir:v "36238" ] ; fhir:display [ fhir:v "Staphylococcal necrotizing pneumonia" ] ] [ fhir:code [ fhir:v "36258" ] ; fhir:display [ fhir:v "Buerger disease" ] ] [ fhir:code [ fhir:v "36273" ] ; fhir:display [ fhir:v "Gastric linitis plastica" ] ] [ fhir:code [ fhir:v "363396" ] ; fhir:display [ fhir:v "High myopia-sensorineural deafness syndrome" ] ] [ fhir:code [ fhir:v "363400" ] ; fhir:display [ fhir:v "Severe neurodegenerative syndrome with lipodystrophy" ] ] [ fhir:code [ fhir:v "363409" ] ; fhir:display [ fhir:v "Fetal akinesia-cerebral and retinal hemorrhage syndrome" ] ] [ fhir:code [ fhir:v "363412" ] ; fhir:display [ fhir:v "Hypomyelination with brain stem and spinal cord involvement and leg spasticity" ] ] [ fhir:code [ fhir:v "363417" ] ; fhir:display [ fhir:v "Temtamy preaxial brachydactyly syndrome" ] ] [ fhir:code [ fhir:v "363424" ] ; fhir:display [ fhir:v "Multiple mitochondrial dysfunctions syndrome type 3" ] ] [ fhir:code [ fhir:v "363429" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" ] ] [ fhir:code [ fhir:v "363432" ] ; fhir:display [ fhir:v "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" ] ] [ fhir:code [ fhir:v "363444" ] ; fhir:display [ fhir:v "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "363447" ] ; fhir:display [ fhir:v "Autosomal dominant childhood-onset proximal spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "363454" ] ; fhir:display [ fhir:v "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "363478" ] ; fhir:display [ fhir:v "Paratesticular adenocarcinoma" ] ] [ fhir:code [ fhir:v "363483" ] ; fhir:display [ fhir:v "Testicular teratoma" ] ] [ fhir:code [ fhir:v "363489" ] ; fhir:display [ fhir:v "Sex cord-stromal tumor of testis" ] ] [ fhir:code [ fhir:v "363494" ] ; fhir:display [ fhir:v "Non-seminomatous germ cell tumor of testis" ] ] [ fhir:code [ fhir:v "363523" ] ; fhir:display [ fhir:v "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "363528" ] ; fhir:display [ fhir:v "Intellectual disability-strabismus syndrome" ] ] [ fhir:code [ fhir:v "363534" ] ; fhir:display [ fhir:v "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form" ] ] [ fhir:code [ fhir:v "363540" ] ; fhir:display [ fhir:v "Leukoencephalopathy with mild cerebellar ataxia and white matter edema" ] ] [ fhir:code [ fhir:v "363549" ] ; fhir:display [ fhir:v "Acute encephalopathy with biphasic seizures and late reduced diffusion" ] ] [ fhir:code [ fhir:v "36355" ] ; fhir:display [ fhir:v "Bleeding disorder due to P2Y12 defect" ] ] [ fhir:code [ fhir:v "363558" ] ; fhir:display [ fhir:v "New-onset refractory status epilepticus" ] ] [ fhir:code [ fhir:v "363611" ] ; fhir:display [ fhir:v "CTCF-related neurodevelopmental disorder" ] ] [ fhir:code [ fhir:v "363618" ] ; fhir:display [ fhir:v "LMNA-related cardiocutaneous progeria syndrome" ] ] [ fhir:code [ fhir:v "363623" ] ; fhir:display [ fhir:v "GMPPB-related limb-girdle muscular dystrophy R19" ] ] [ fhir:code [ fhir:v "363649" ] ; fhir:display [ fhir:v "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome" ] ] [ fhir:code [ fhir:v "363654" ] ; fhir:display [ fhir:v "X-linked parkinsonism-spasticity syndrome" ] ] [ fhir:code [ fhir:v "363659" ] ; fhir:display [ fhir:v "20q11.2 microduplication syndrome" ] ] [ fhir:code [ fhir:v "363665" ] ; fhir:display [ fhir:v "Acroosteolysis-keloid-like lesions-premature aging syndrome" ] ] [ fhir:code [ fhir:v "36367" ] ; fhir:display [ fhir:v "Distal deletion 1q" ] ] [ fhir:code [ fhir:v "363677" ] ; fhir:display [ fhir:v "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia" ] ] [ fhir:code [ fhir:v "363680" ] ; fhir:display [ fhir:v "2p13.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "363686" ] ; fhir:display [ fhir:v "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" ] ] [ fhir:code [ fhir:v "363694" ] ; fhir:display [ fhir:v "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" ] ] [ fhir:code [ fhir:v "363700" ] ; fhir:display [ fhir:v "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" ] ] [ fhir:code [ fhir:v "363705" ] ; fhir:display [ fhir:v "Craniofaciofrontodigital syndrome" ] ] [ fhir:code [ fhir:v "363710" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 37" ] ] [ fhir:code [ fhir:v "363717" ] ; fhir:display [ fhir:v "Alexander disease type I" ] ] [ fhir:code [ fhir:v "363722" ] ; fhir:display [ fhir:v "Alexander disease type II" ] ] [ fhir:code [ fhir:v "363727" ] ; fhir:display [ fhir:v "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" ] ] [ fhir:code [ fhir:v "363741" ] ; fhir:display [ fhir:v "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "363746" ] ; fhir:display [ fhir:v "Balint syndrome" ] ] [ fhir:code [ fhir:v "36382" ] ; fhir:display [ fhir:v "Familial cervical artery dissection" ] ] [ fhir:code [ fhir:v "36383" ] ; fhir:display [ fhir:v "COL4A1-related familial vascular leukoencephalopathy" ] ] [ fhir:code [ fhir:v "36386" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 1" ] ] [ fhir:code [ fhir:v "36387" ] ; fhir:display [ fhir:v "Generalized epilepsy with febrile seizures-plus" ] ] [ fhir:code [ fhir:v "363958" ] ; fhir:display [ fhir:v "17q21.31 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "363965" ] ; fhir:display [ fhir:v "Koolen-De Vries syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "363969" ] ; fhir:display [ fhir:v "Autosomal recessive cerebral atrophy" ] ] [ fhir:code [ fhir:v "36397" ] ; fhir:display [ fhir:v "Adiposis dolorosa" ] ] [ fhir:code [ fhir:v "363972" ] ; fhir:display [ fhir:v "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" ] ] [ fhir:code [ fhir:v "363976" ] ; fhir:display [ fhir:v "Giant cell tumor of bone" ] ] [ fhir:code [ fhir:v "363981" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4B3" ] ] [ fhir:code [ fhir:v "363989" ] ; fhir:display [ fhir:v "Familial benign flecked retina" ] ] [ fhir:code [ fhir:v "363992" ] ; fhir:display [ fhir:v "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome" ] ] [ fhir:code [ fhir:v "363999" ] ; fhir:display [ fhir:v "Non-immune hydrops fetalis" ] ] [ fhir:code [ fhir:v "364" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glucose-6-phosphatase deficiency" ] ] [ fhir:code [ fhir:v "364013" ] ; fhir:display [ fhir:v "Immune hydrops fetalis" ] ] [ fhir:code [ fhir:v "364028" ] ; fhir:display [ fhir:v "X-linked intellectual disability due to GRIA3 mutations" ] ] [ fhir:code [ fhir:v "364033" ] ; fhir:display [ fhir:v "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood" ] ] [ fhir:code [ fhir:v "364039" ] ; fhir:display [ fhir:v "Hydroa vacciniforme-like lymphoma" ] ] [ fhir:code [ fhir:v "364043" ] ; fhir:display [ fhir:v "ALK-positive large B-cell lymphoma" ] ] [ fhir:code [ fhir:v "364055" ] ; fhir:display [ fhir:v "Severe early-childhood-onset retinal dystrophy" ] ] [ fhir:code [ fhir:v "364063" ] ; fhir:display [ fhir:v "Infantile epileptic-dyskinetic encephalopathy" ] ] [ fhir:code [ fhir:v "36412" ] ; fhir:display [ fhir:v "Hypocomplementemic urticarial vasculitis" ] ] [ fhir:code [ fhir:v "364198" ] ; fhir:display [ fhir:v "Bipartite talus" ] ] [ fhir:code [ fhir:v "36426" ] ; fhir:display [ fhir:v "Stevens-Johnson syndrome" ] ] [ fhir:code [ fhir:v "364577" ] ; fhir:display [ fhir:v "Intellectual disability-brachydactyly-Pierre Robin syndrome" ] ] [ fhir:code [ fhir:v "365" ] ; fhir:display [ fhir:v "Glycogen storage disease due to acid maltase deficiency" ] ] [ fhir:code [ fhir:v "366" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen debranching enzyme deficiency" ] ] [ fhir:code [ fhir:v "367" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glycogen branching enzyme deficiency" ] ] [ fhir:code [ fhir:v "368" ] ; fhir:display [ fhir:v "Glycogen storage disease due to muscle glycogen phosphorylase deficiency" ] ] [ fhir:code [ fhir:v "36899" ] ; fhir:display [ fhir:v "Myoclonus-dystonia syndrome" ] ] [ fhir:code [ fhir:v "369" ] ; fhir:display [ fhir:v "Glycogen storage disease due to liver glycogen phosphorylase deficiency" ] ] [ fhir:code [ fhir:v "36913" ] ; fhir:display [ fhir:v "Autoimmune hypoparathyroidism" ] ] [ fhir:code [ fhir:v "369837" ] ; fhir:display [ fhir:v "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "369840" ] ; fhir:display [ fhir:v "TRAPPC11-related limb-girdle muscular dystrophy R18" ] ] [ fhir:code [ fhir:v "369847" ] ; fhir:display [ fhir:v "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome" ] ] [ fhir:code [ fhir:v "369852" ] ; fhir:display [ fhir:v "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" ] ] [ fhir:code [ fhir:v "369861" ] ; fhir:display [ fhir:v "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "369867" ] ; fhir:display [ fhir:v "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C" ] ] [ fhir:code [ fhir:v "369873" ] ; fhir:display [ fhir:v "Obesity due to SIM1 deficiency" ] ] [ fhir:code [ fhir:v "369881" ] ; fhir:display [ fhir:v "2p21 microdeletion syndrome without cystinuria" ] ] [ fhir:code [ fhir:v "369891" ] ; fhir:display [ fhir:v "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency" ] ] [ fhir:code [ fhir:v "369897" ] ; fhir:display [ fhir:v "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" ] ] [ fhir:code [ fhir:v "369913" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 17" ] ] [ fhir:code [ fhir:v "369920" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 9" ] ] [ fhir:code [ fhir:v "369929" ] ; fhir:display [ fhir:v "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome" ] ] [ fhir:code [ fhir:v "369939" ] ; fhir:display [ fhir:v "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" ] ] [ fhir:code [ fhir:v "369942" ] ; fhir:display [ fhir:v "CADDS" ] ] [ fhir:code [ fhir:v "369950" ] ; fhir:display [ fhir:v "Intellectual disability-seizures-macrocephaly-obesity syndrome" ] ] [ fhir:code [ fhir:v "369955" ] ; fhir:display [ fhir:v "Methylmalonic acidemia with homocystinuria, type cblJ" ] ] [ fhir:code [ fhir:v "369962" ] ; fhir:display [ fhir:v "Methylmalonic acidemia with homocystinuria, type cblX" ] ] [ fhir:code [ fhir:v "369970" ] ; fhir:display [ fhir:v "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome" ] ] [ fhir:code [ fhir:v "369979" ] ; fhir:display [ fhir:v "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome" ] ] [ fhir:code [ fhir:v "369992" ] ; fhir:display [ fhir:v "Severe dermatitis-multiple allergies-metabolic wasting syndrome" ] ] [ fhir:code [ fhir:v "369999" ] ; fhir:display [ fhir:v "Diffuse palmoplantar keratoderma with painful fissures" ] ] [ fhir:code [ fhir:v "37" ] ; fhir:display [ fhir:v "Acrodermatitis enteropathica" ] ] [ fhir:code [ fhir:v "370002" ] ; fhir:display [ fhir:v "Focal palmoplantar keratoderma with joint keratoses" ] ] [ fhir:code [ fhir:v "370010" ] ; fhir:display [ fhir:v "Intellectual disability-facial dysmorphism-hand anomalies syndrome" ] ] [ fhir:code [ fhir:v "370015" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type" ] ] [ fhir:code [ fhir:v "370022" ] ; fhir:display [ fhir:v "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome" ] ] [ fhir:code [ fhir:v "370026" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with t(8;16)(p11;p13) translocation" ] ] [ fhir:code [ fhir:v "370034" ] ; fhir:display [ fhir:v "Familial syringomyelia" ] ] [ fhir:code [ fhir:v "370039" ] ; fhir:display [ fhir:v "Angora hair nevus" ] ] [ fhir:code [ fhir:v "370046" ] ; fhir:display [ fhir:v "Didymosis aplasticosebacea" ] ] [ fhir:code [ fhir:v "370052" ] ; fhir:display [ fhir:v "SCALP syndrome" ] ] [ fhir:code [ fhir:v "370059" ] ; fhir:display [ fhir:v "NEVADA syndrome" ] ] [ fhir:code [ fhir:v "370076" ] ; fhir:display [ fhir:v "Fetal carbamazepine syndrome" ] ] [ fhir:code [ fhir:v "370079" ] ; fhir:display [ fhir:v "Proximal 16p11.2 microduplication syndrome" ] ] [ fhir:code [ fhir:v "370088" ] ; fhir:display [ fhir:v "Acute infantile liver failure-multisystemic involvement syndrome" ] ] [ fhir:code [ fhir:v "370091" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 5" ] ] [ fhir:code [ fhir:v "370097" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 6" ] ] [ fhir:code [ fhir:v "370103" ] ; fhir:display [ fhir:v "Primary dystonia, DYT17 type" ] ] [ fhir:code [ fhir:v "370109" ] ; fhir:display [ fhir:v "Ataxia-telangiectasia variant" ] ] [ fhir:code [ fhir:v "370127" ] ; fhir:display [ fhir:v "Medich giant platelet syndrome" ] ] [ fhir:code [ fhir:v "370131" ] ; fhir:display [ fhir:v "White platelet syndrome" ] ] [ fhir:code [ fhir:v "370334" ] ; fhir:display [ fhir:v "Extraskeletal Ewing sarcoma" ] ] [ fhir:code [ fhir:v "370348" ] ; fhir:display [ fhir:v "Peripheral primitive neuroectodermal tumor" ] ] [ fhir:code [ fhir:v "370396" ] ; fhir:display [ fhir:v "Small cell carcinoma of the ovary" ] ] [ fhir:code [ fhir:v "37042" ] ; fhir:display [ fhir:v "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" ] ] [ fhir:code [ fhir:v "370921" ] ; fhir:display [ fhir:v "STT3A-CDG" ] ] [ fhir:code [ fhir:v "370924" ] ; fhir:display [ fhir:v "STT3B-CDG" ] ] [ fhir:code [ fhir:v "370927" ] ; fhir:display [ fhir:v "SSR4-CDG" ] ] [ fhir:code [ fhir:v "370930" ] ; fhir:display [ fhir:v "XYLT1-CDG" ] ] [ fhir:code [ fhir:v "370933" ] ; fhir:display [ fhir:v "GM3 synthase deficiency" ] ] [ fhir:code [ fhir:v "370943" ] ; fhir:display [ fhir:v "Autism spectrum disorder-epilepsy-arthrogryposis syndrome" ] ] [ fhir:code [ fhir:v "370959" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy with cerebellar involvement" ] ] [ fhir:code [ fhir:v "370968" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy with intellectual disability" ] ] [ fhir:code [ fhir:v "370980" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy without intellectual disability" ] ] [ fhir:code [ fhir:v "370997" ] ; fhir:display [ fhir:v "Muscle-eye-brain disease with bilateral multicystic leucodystrophy" ] ] [ fhir:code [ fhir:v "371" ] ; fhir:display [ fhir:v "Glycogen storage disease due to muscle phosphofructokinase deficiency" ] ] [ fhir:code [ fhir:v "371007" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy with hyperlaxity" ] ] [ fhir:code [ fhir:v "371364" ] ; fhir:display [ fhir:v "Hypotonia-speech impairment-severe cognitive delay syndrome" ] ] [ fhir:code [ fhir:v "371428" ] ; fhir:display [ fhir:v "Multicentric osteolysis-nodulosis-arthropathy spectrum" ] ] [ fhir:code [ fhir:v "37202" ] ; fhir:display [ fhir:v "Interstitial cystitis" ] ] [ fhir:code [ fhir:v "373" ] ; fhir:display [ fhir:v "Simpson-Golabi-Behmel syndrome" ] ] [ fhir:code [ fhir:v "375" ] ; fhir:display [ fhir:v "Anti-glomerular basement membrane disease" ] ] [ fhir:code [ fhir:v "37553" ] ; fhir:display [ fhir:v "Andersen-Tawil syndrome" ] ] [ fhir:code [ fhir:v "37559" ] ; fhir:display [ fhir:v "Acquired kinky hair syndrome" ] ] [ fhir:code [ fhir:v "376" ] ; fhir:display [ fhir:v "Gordon syndrome" ] ] [ fhir:code [ fhir:v "37612" ] ; fhir:display [ fhir:v "Episodic ataxia type 1" ] ] [ fhir:code [ fhir:v "377" ] ; fhir:display [ fhir:v "Gorlin syndrome" ] ] [ fhir:code [ fhir:v "37748" ] ; fhir:display [ fhir:v "Schnitzler syndrome" ] ] [ fhir:code [ fhir:v "379" ] ; fhir:display [ fhir:v "Chronic granulomatous disease" ] ] [ fhir:code [ fhir:v "38" ] ; fhir:display [ fhir:v "Acrokeratoelastoidosis of Costa" ] ] [ fhir:code [ fhir:v "380" ] ; fhir:display [ fhir:v "Greig cephalopolysyndactyly syndrome" ] ] [ fhir:code [ fhir:v "381" ] ; fhir:display [ fhir:v "Griscelli syndrome" ] ] [ fhir:code [ fhir:v "382" ] ; fhir:display [ fhir:v "Guanidinoacetate methyltransferase deficiency" ] ] [ fhir:code [ fhir:v "384" ] ; fhir:display [ fhir:v "Huriez syndrome" ] ] [ fhir:code [ fhir:v "386" ] ; fhir:display [ fhir:v "Hepatic cystic hamartoma" ] ] [ fhir:code [ fhir:v "388" ] ; fhir:display [ fhir:v "Hirschsprung disease" ] ] [ fhir:code [ fhir:v "38874" ] ; fhir:display [ fhir:v "Dihydropyrimidinuria" ] ] [ fhir:code [ fhir:v "389" ] ; fhir:display [ fhir:v "Langerhans cell histiocytosis" ] ] [ fhir:code [ fhir:v "39" ] ; fhir:display [ fhir:v "Acromelanosis" ] ] [ fhir:code [ fhir:v "390" ] ; fhir:display [ fhir:v "Histoplasmosis" ] ] [ fhir:code [ fhir:v "39041" ] ; fhir:display [ fhir:v "Omenn syndrome" ] ] [ fhir:code [ fhir:v "39044" ] ; fhir:display [ fhir:v "Uveal melanoma" ] ] [ fhir:code [ fhir:v "391" ] ; fhir:display [ fhir:v "Classic Hodgkin lymphoma" ] ] [ fhir:code [ fhir:v "391307" ] ; fhir:display [ fhir:v "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "391311" ] ; fhir:display [ fhir:v "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency" ] ] [ fhir:code [ fhir:v "391316" ] ; fhir:display [ fhir:v "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" ] ] [ fhir:code [ fhir:v "391320" ] ; fhir:display [ fhir:v "East Texas bleeding disorder" ] ] [ fhir:code [ fhir:v "391327" ] ; fhir:display [ fhir:v "X-linked calvarial hyperostosis" ] ] [ fhir:code [ fhir:v "391330" ] ; fhir:display [ fhir:v "X-linked osteoporosis with fractures" ] ] [ fhir:code [ fhir:v "391343" ] ; fhir:display [ fhir:v "Fatal post-viral neurodegenerative disorder" ] ] [ fhir:code [ fhir:v "391348" ] ; fhir:display [ fhir:v "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" ] ] [ fhir:code [ fhir:v "391351" ] ; fhir:display [ fhir:v "SURF1-related Charcot-Marie-Tooth disease type 4" ] ] [ fhir:code [ fhir:v "391366" ] ; fhir:display [ fhir:v "Growth retardation-mild developmental delay-chronic hepatitis syndrome" ] ] [ fhir:code [ fhir:v "391372" ] ; fhir:display [ fhir:v "Intellectual disability-severe speech delay-mild dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "391376" ] ; fhir:display [ fhir:v "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome" ] ] [ fhir:code [ fhir:v "391384" ] ; fhir:display [ fhir:v "Familial episodic pain syndrome" ] ] [ fhir:code [ fhir:v "391389" ] ; fhir:display [ fhir:v "Familial episodic pain syndrome with predominantly upper body involvement" ] ] [ fhir:code [ fhir:v "391392" ] ; fhir:display [ fhir:v "Familial episodic pain syndrome with predominantly lower limb involvement" ] ] [ fhir:code [ fhir:v "391397" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 7" ] ] [ fhir:code [ fhir:v "391408" ] ; fhir:display [ fhir:v "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome" ] ] [ fhir:code [ fhir:v "391411" ] ; fhir:display [ fhir:v "Atypical juvenile parkinsonism" ] ] [ fhir:code [ fhir:v "391417" ] ; fhir:display [ fhir:v "HSD10 disease" ] ] [ fhir:code [ fhir:v "391428" ] ; fhir:display [ fhir:v "HSD10 disease, infantile type" ] ] [ fhir:code [ fhir:v "391457" ] ; fhir:display [ fhir:v "HSD10 disease, neonatal type" ] ] [ fhir:code [ fhir:v "391474" ] ; fhir:display [ fhir:v "Frontorhiny" ] ] [ fhir:code [ fhir:v "391487" ] ; fhir:display [ fhir:v "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" ] ] [ fhir:code [ fhir:v "391490" ] ; fhir:display [ fhir:v "Adult-onset myasthenia gravis" ] ] [ fhir:code [ fhir:v "391497" ] ; fhir:display [ fhir:v "Juvenile myasthenia gravis" ] ] [ fhir:code [ fhir:v "391504" ] ; fhir:display [ fhir:v "Transient neonatal myasthenia gravis" ] ] [ fhir:code [ fhir:v "391641" ] ; fhir:display [ fhir:v "Feingold syndrome type 1" ] ] [ fhir:code [ fhir:v "391646" ] ; fhir:display [ fhir:v "Feingold syndrome type 2" ] ] [ fhir:code [ fhir:v "391651" ] ; fhir:display [ fhir:v "Glomus tumor" ] ] [ fhir:code [ fhir:v "391655" ] ; fhir:display [ fhir:v "Off-periods in Parkinson disease not responding to oral treatment" ] ] [ fhir:code [ fhir:v "391665" ] ; fhir:display [ fhir:v "Homozygous familial hypercholesterolemia" ] ] [ fhir:code [ fhir:v "391673" ] ; fhir:display [ fhir:v "Necrotizing enterocolitis" ] ] [ fhir:code [ fhir:v "391677" ] ; fhir:display [ fhir:v "Short stature-optic atrophy-Pelger-Huët anomaly syndrome" ] ] [ fhir:code [ fhir:v "391723" ] ; fhir:display [ fhir:v "Mucinous adenocarcinoma of the appendix" ] ] [ fhir:code [ fhir:v "392" ] ; fhir:display [ fhir:v "Holt-Oram syndrome" ] ] [ fhir:code [ fhir:v "393" ] ; fhir:display [ fhir:v "46,XX testicular difference of sex development" ] ] [ fhir:code [ fhir:v "394" ] ; fhir:display [ fhir:v "Classic homocystinuria" ] ] [ fhir:code [ fhir:v "394529" ] ; fhir:display [ fhir:v "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type" ] ] [ fhir:code [ fhir:v "394532" ] ; fhir:display [ fhir:v "Multiple acyl-CoA dehydrogenase deficiency, mild type" ] ] [ fhir:code [ fhir:v "395" ] ; fhir:display [ fhir:v "Homocystinuria due to methylene tetrahydrofolate reductase deficiency" ] ] [ fhir:code [ fhir:v "396" ] ; fhir:display [ fhir:v "Chronic hiccup" ] ] [ fhir:code [ fhir:v "397" ] ; fhir:display [ fhir:v "Giant cell arteritis" ] ] [ fhir:code [ fhir:v "397587" ] ; fhir:display [ fhir:v "Deep dermatophytosis" ] ] [ fhir:code [ fhir:v "397590" ] ; fhir:display [ fhir:v "Silver-Russell syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "397593" ] ; fhir:display [ fhir:v "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" ] ] [ fhir:code [ fhir:v "397596" ] ; fhir:display [ fhir:v "Activated PI3K-delta syndrome" ] ] [ fhir:code [ fhir:v "397606" ] ; fhir:display [ fhir:v "PrP systemic amyloidosis" ] ] [ fhir:code [ fhir:v "397612" ] ; fhir:display [ fhir:v "Macrocephaly-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "397615" ] ; fhir:display [ fhir:v "Obesity due to CEP19 deficiency" ] ] [ fhir:code [ fhir:v "397618" ] ; fhir:display [ fhir:v "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome" ] ] [ fhir:code [ fhir:v "397623" ] ; fhir:display [ fhir:v "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "397685" ] ; fhir:display [ fhir:v "Familial hyperprolactinemia" ] ] [ fhir:code [ fhir:v "397692" ] ; fhir:display [ fhir:v "Hereditary isolated aplastic anemia" ] ] [ fhir:code [ fhir:v "397695" ] ; fhir:display [ fhir:v "3q27.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "397709" ] ; fhir:display [ fhir:v "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" ] ] [ fhir:code [ fhir:v "397715" ] ; fhir:display [ fhir:v "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" ] ] [ fhir:code [ fhir:v "397725" ] ; fhir:display [ fhir:v "COASY protein-associated neurodegeneration" ] ] [ fhir:code [ fhir:v "397735" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2U" ] ] [ fhir:code [ fhir:v "397744" ] ; fhir:display [ fhir:v "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome" ] ] [ fhir:code [ fhir:v "397750" ] ; fhir:display [ fhir:v "Periodic paralysis with later-onset distal motor neuropathy" ] ] [ fhir:code [ fhir:v "397755" ] ; fhir:display [ fhir:v "Periodic paralysis with transient compartment-like syndrome" ] ] [ fhir:code [ fhir:v "397758" ] ; fhir:display [ fhir:v "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" ] ] [ fhir:code [ fhir:v "397787" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to IKK2 deficiency" ] ] [ fhir:code [ fhir:v "397922" ] ; fhir:display [ fhir:v "Ferro-cerebro-cutaneous syndrome" ] ] [ fhir:code [ fhir:v "397927" ] ; fhir:display [ fhir:v "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome" ] ] [ fhir:code [ fhir:v "397933" ] ; fhir:display [ fhir:v "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" ] ] [ fhir:code [ fhir:v "397937" ] ; fhir:display [ fhir:v "Polyglucosan body myopathy type 1" ] ] [ fhir:code [ fhir:v "397941" ] ; fhir:display [ fhir:v "MAN1B1-CDG" ] ] [ fhir:code [ fhir:v "397946" ] ; fhir:display [ fhir:v "Autosomal spastic paraplegia type 58" ] ] [ fhir:code [ fhir:v "397951" ] ; fhir:display [ fhir:v "Microcephaly-thin corpus callosum-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "397959" ] ; fhir:display [ fhir:v "TCR-alpha-beta-positive T-cell deficiency" ] ] [ fhir:code [ fhir:v "397964" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to MALT1 deficiency" ] ] [ fhir:code [ fhir:v "397968" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2R" ] ] [ fhir:code [ fhir:v "397973" ] ; fhir:display [ fhir:v "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" ] ] [ fhir:code [ fhir:v "398053" ] ; fhir:display [ fhir:v "Adenocarcinoma of the penis" ] ] [ fhir:code [ fhir:v "398058" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the penis" ] ] [ fhir:code [ fhir:v "398063" ] ; fhir:display [ fhir:v "Refractory celiac disease" ] ] [ fhir:code [ fhir:v "398069" ] ; fhir:display [ fhir:v "MAGEL2-related Prader-Willi-like syndrome" ] ] [ fhir:code [ fhir:v "398079" ] ; fhir:display [ fhir:v "SIM1-related Prader-Willi-like syndrome" ] ] [ fhir:code [ fhir:v "398088" ] ; fhir:display [ fhir:v "Hereditary cryohydrocytosis with normal stomatin" ] ] [ fhir:code [ fhir:v "398097" ] ; fhir:display [ fhir:v "Neonatal antiphospholipid syndrome" ] ] [ fhir:code [ fhir:v "398109" ] ; fhir:display [ fhir:v "Neonatal autoimmune hemolytic anemia" ] ] [ fhir:code [ fhir:v "398117" ] ; fhir:display [ fhir:v "Neonatal dermatomyositis" ] ] [ fhir:code [ fhir:v "39812" ] ; fhir:display [ fhir:v "Graft versus host disease" ] ] [ fhir:code [ fhir:v "398124" ] ; fhir:display [ fhir:v "Neonatal lupus erythematosus" ] ] [ fhir:code [ fhir:v "398127" ] ; fhir:display [ fhir:v "Neonatal scleroderma" ] ] [ fhir:code [ fhir:v "398147" ] ; fhir:display [ fhir:v "Persistent idiopathic facial pain" ] ] [ fhir:code [ fhir:v "398156" ] ; fhir:display [ fhir:v "Oculoauriculofrontonasal syndrome" ] ] [ fhir:code [ fhir:v "398166" ] ; fhir:display [ fhir:v "Focal facial dermal dysplasia" ] ] [ fhir:code [ fhir:v "398173" ] ; fhir:display [ fhir:v "Focal facial dermal dysplasia type II" ] ] [ fhir:code [ fhir:v "398189" ] ; fhir:display [ fhir:v "Focal facial dermal dysplasia type IV" ] ] [ fhir:code [ fhir:v "398961" ] ; fhir:display [ fhir:v "Mucinous adenocarcinoma of ovary" ] ] [ fhir:code [ fhir:v "398971" ] ; fhir:display [ fhir:v "Clear cell adenocarcinoma of the ovary" ] ] [ fhir:code [ fhir:v "398987" ] ; fhir:display [ fhir:v "Malignant teratoma of ovary" ] ] [ fhir:code [ fhir:v "399" ] ; fhir:display [ fhir:v "Huntington disease" ] ] [ fhir:code [ fhir:v "399058" ] ; fhir:display [ fhir:v "Alpha-B crystallin-related late-onset myopathy" ] ] [ fhir:code [ fhir:v "399081" ] ; fhir:display [ fhir:v "KLHL9-related early-onset distal myopathy" ] ] [ fhir:code [ fhir:v "399086" ] ; fhir:display [ fhir:v "Finnish upper limb-onset distal myopathy" ] ] [ fhir:code [ fhir:v "399096" ] ; fhir:display [ fhir:v "Distal anoctaminopathy" ] ] [ fhir:code [ fhir:v "399103" ] ; fhir:display [ fhir:v "Distal nebulin myopathy" ] ] [ fhir:code [ fhir:v "399175" ] ; fhir:display [ fhir:v "Traumatic avascular necrosis" ] ] [ fhir:code [ fhir:v "399180" ] ; fhir:display [ fhir:v "Secondary non-traumatic avascular necrosis" ] ] [ fhir:code [ fhir:v "399293" ] ; fhir:display [ fhir:v "Osteonecrosis of the jaw" ] ] [ fhir:code [ fhir:v "399307" ] ; fhir:display [ fhir:v "Idiopathic avascular necrosis" ] ] [ fhir:code [ fhir:v "399329" ] ; fhir:display [ fhir:v "Epiphysiolysis of the hip" ] ] [ fhir:code [ fhir:v "399805" ] ; fhir:display [ fhir:v "Male infertility with azoospermia or oligozoospermia due to single gene mutation" ] ] [ fhir:code [ fhir:v "399808" ] ; fhir:display [ fhir:v "Male infertility with teratozoospermia due to single gene mutation" ] ] [ fhir:code [ fhir:v "40" ] ; fhir:display [ fhir:v "Acromesomelic dysplasia, Maroteaux type" ] ] [ fhir:code [ fhir:v "400" ] ; fhir:display [ fhir:v "Cystic echinococcosis" ] ] [ fhir:code [ fhir:v "401" ] ; fhir:display [ fhir:v "Hymenolepiasis" ] ] [ fhir:code [ fhir:v "401764" ] ; fhir:display [ fhir:v "Pancytopenia-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "401768" ] ; fhir:display [ fhir:v "Proximal myopathy with extrapyramidal signs" ] ] [ fhir:code [ fhir:v "401777" ] ; fhir:display [ fhir:v "Optic atrophy-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "401780" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 61" ] ] [ fhir:code [ fhir:v "401785" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 62" ] ] [ fhir:code [ fhir:v "401795" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 59" ] ] [ fhir:code [ fhir:v "401800" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 60" ] ] [ fhir:code [ fhir:v "401805" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 63" ] ] [ fhir:code [ fhir:v "401810" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 64" ] ] [ fhir:code [ fhir:v "401815" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 66" ] ] [ fhir:code [ fhir:v "401820" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 67" ] ] [ fhir:code [ fhir:v "401830" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 69" ] ] [ fhir:code [ fhir:v "401835" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 70" ] ] [ fhir:code [ fhir:v "401840" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 71" ] ] [ fhir:code [ fhir:v "401849" ] ; fhir:display [ fhir:v "Autosomal spastic paraplegia type 72" ] ] [ fhir:code [ fhir:v "401859" ] ; fhir:display [ fhir:v "Lipoic acid synthetase deficiency" ] ] [ fhir:code [ fhir:v "401862" ] ; fhir:display [ fhir:v "Lipoyl transferase 1 deficiency" ] ] [ fhir:code [ fhir:v "401866" ] ; fhir:display [ fhir:v "Childhood-onset spasticity with hyperglycinemia" ] ] [ fhir:code [ fhir:v "401869" ] ; fhir:display [ fhir:v "Multiple mitochondrial dysfunctions syndrome type 1" ] ] [ fhir:code [ fhir:v "401874" ] ; fhir:display [ fhir:v "Multiple mitochondrial dysfunctions syndrome type 2" ] ] [ fhir:code [ fhir:v "401901" ] ; fhir:display [ fhir:v "Huntington disease-like syndrome due to C9ORF72 expansions" ] ] [ fhir:code [ fhir:v "401911" ] ; fhir:display [ fhir:v "AXIN2-related attenuated familial adenomatous polyposis" ] ] [ fhir:code [ fhir:v "401920" ] ; fhir:display [ fhir:v "Fibrolamellar hepatocellular carcinoma" ] ] [ fhir:code [ fhir:v "401923" ] ; fhir:display [ fhir:v "9q31.1q31.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "401935" ] ; fhir:display [ fhir:v "14q24.1q24.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "401942" ] ; fhir:display [ fhir:v "Familial median cleft of the upper and lower lips" ] ] [ fhir:code [ fhir:v "401945" ] ; fhir:display [ fhir:v "Moyamoya disease with early-onset achalasia" ] ] [ fhir:code [ fhir:v "401948" ] ; fhir:display [ fhir:v "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" ] ] [ fhir:code [ fhir:v "401953" ] ; fhir:display [ fhir:v "Episodic ataxia with slurred speech" ] ] [ fhir:code [ fhir:v "401959" ] ; fhir:display [ fhir:v "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome" ] ] [ fhir:code [ fhir:v "401964" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" ] ] [ fhir:code [ fhir:v "401973" ] ; fhir:display [ fhir:v "MEND syndrome" ] ] [ fhir:code [ fhir:v "401979" ] ; fhir:display [ fhir:v "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" ] ] [ fhir:code [ fhir:v "401986" ] ; fhir:display [ fhir:v "1p31p32 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "401996" ] ; fhir:display [ fhir:v "Karyomegalic interstitial nephritis" ] ] [ fhir:code [ fhir:v "402003" ] ; fhir:display [ fhir:v "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" ] ] [ fhir:code [ fhir:v "402014" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with t(6;9)(p23;q34)" ] ] [ fhir:code [ fhir:v "402017" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with t(9;11)(p22;q23)" ] ] [ fhir:code [ fhir:v "402020" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)" ] ] [ fhir:code [ fhir:v "402023" ] ; fhir:display [ fhir:v "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)" ] ] [ fhir:code [ fhir:v "402026" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with NPM1 somatic mutations" ] ] [ fhir:code [ fhir:v "402035" ] ; fhir:display [ fhir:v "Eosinophilic colitis" ] ] [ fhir:code [ fhir:v "402041" ] ; fhir:display [ fhir:v "Autosomal recessive distal renal tubular acidosis" ] ] [ fhir:code [ fhir:v "402075" ] ; fhir:display [ fhir:v "Familial bicuspid aortic valve" ] ] [ fhir:code [ fhir:v "402082" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy type 5" ] ] [ fhir:code [ fhir:v "402364" ] ; fhir:display [ fhir:v "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly" ] ] [ fhir:code [ fhir:v "402823" ] ; fhir:display [ fhir:v "Hepatitis delta" ] ] [ fhir:code [ fhir:v "403" ] ; fhir:display [ fhir:v "Familial hyperaldosteronism type I" ] ] [ fhir:code [ fhir:v "40366" ] ; fhir:display [ fhir:v "Acitretin/etretinate embryopathy" ] ] [ fhir:code [ fhir:v "404" ] ; fhir:display [ fhir:v "Familial hyperaldosteronism type II" ] ] [ fhir:code [ fhir:v "404437" ] ; fhir:display [ fhir:v "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome" ] ] [ fhir:code [ fhir:v "404440" ] ; fhir:display [ fhir:v "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" ] ] [ fhir:code [ fhir:v "404443" ] ; fhir:display [ fhir:v "Tatton-Brown-Rahman syndrome" ] ] [ fhir:code [ fhir:v "404448" ] ; fhir:display [ fhir:v "ADNP syndrome" ] ] [ fhir:code [ fhir:v "404451" ] ; fhir:display [ fhir:v "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome" ] ] [ fhir:code [ fhir:v "404454" ] ; fhir:display [ fhir:v "Alacrimia-choreoathetosis-liver dysfunction syndrome" ] ] [ fhir:code [ fhir:v "404463" ] ; fhir:display [ fhir:v "Multisystemic smooth muscle dysfunction syndrome" ] ] [ fhir:code [ fhir:v "404466" ] ; fhir:display [ fhir:v "Female infertility due to zona pellucida defect" ] ] [ fhir:code [ fhir:v "404473" ] ; fhir:display [ fhir:v "Severe intellectual disability-progressive spastic diplegia syndrome" ] ] [ fhir:code [ fhir:v "404476" ] ; fhir:display [ fhir:v "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome" ] ] [ fhir:code [ fhir:v "404493" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency" ] ] [ fhir:code [ fhir:v "404499" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" ] ] [ fhir:code [ fhir:v "404507" ] ; fhir:display [ fhir:v "Chondromyxoid fibroma" ] ] [ fhir:code [ fhir:v "404511" ] ; fhir:display [ fhir:v "Clear cell papillary renal cell carcinoma" ] ] [ fhir:code [ fhir:v "404514" ] ; fhir:display [ fhir:v "Acquired cystic disease-associated renal cell carcinoma" ] ] [ fhir:code [ fhir:v "404521" ] ; fhir:display [ fhir:v "Spinal muscular atrophy with respiratory distress type 2" ] ] [ fhir:code [ fhir:v "404546" ] ; fhir:display [ fhir:v "DITRA" ] ] [ fhir:code [ fhir:v "404553" ] ; fhir:display [ fhir:v "Vasculitis due to ADA2 deficiency" ] ] [ fhir:code [ fhir:v "404560" ] ; fhir:display [ fhir:v "Familial atypical multiple mole melanoma syndrome" ] ] [ fhir:code [ fhir:v "405" ] ; fhir:display [ fhir:v "Familial hypocalciuric hypercalcemia" ] ] [ fhir:code [ fhir:v "407" ] ; fhir:display [ fhir:v "Glycine encephalopathy" ] ] [ fhir:code [ fhir:v "408" ] ; fhir:display [ fhir:v "Isolated glycerol kinase deficiency" ] ] [ fhir:code [ fhir:v "409" ] ; fhir:display [ fhir:v "Hyperkeratosis lenticularis perstans" ] ] [ fhir:code [ fhir:v "40923" ] ; fhir:display [ fhir:v "Eales disease" ] ] [ fhir:code [ fhir:v "41" ] ; fhir:display [ fhir:v "Dyschromatosis symmetrica hereditaria" ] ] [ fhir:code [ fhir:v "411493" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 10" ] ] [ fhir:code [ fhir:v "411501" ] ; fhir:display [ fhir:v "Williams-Campbell syndrome" ] ] [ fhir:code [ fhir:v "411511" ] ; fhir:display [ fhir:v "Angelman syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "411515" ] ; fhir:display [ fhir:v "Angelman syndrome due to imprinting defect in 15q11-q13" ] ] [ fhir:code [ fhir:v "411527" ] ; fhir:display [ fhir:v "Central retinal vein occlusion" ] ] [ fhir:code [ fhir:v "411536" ] ; fhir:display [ fhir:v "Mild phosphoribosylpyrophosphate synthetase superactivity" ] ] [ fhir:code [ fhir:v "411543" ] ; fhir:display [ fhir:v "Severe phosphoribosylpyrophosphate synthetase superactivity" ] ] [ fhir:code [ fhir:v "411590" ] ; fhir:display [ fhir:v "Wolfram-like syndrome" ] ] [ fhir:code [ fhir:v "411593" ] ; fhir:display [ fhir:v "Insulin autoimmune syndrome" ] ] [ fhir:code [ fhir:v "411602" ] ; fhir:display [ fhir:v "Hereditary late-onset Parkinson disease" ] ] [ fhir:code [ fhir:v "411629" ] ; fhir:display [ fhir:v "Infantile nephropathic cystinosis" ] ] [ fhir:code [ fhir:v "411634" ] ; fhir:display [ fhir:v "Juvenile nephropathic cystinosis" ] ] [ fhir:code [ fhir:v "411641" ] ; fhir:display [ fhir:v "Ocular cystinosis" ] ] [ fhir:code [ fhir:v "411696" ] ; fhir:display [ fhir:v "Proton-pump inhibitor-responsive esophageal eosinophilia" ] ] [ fhir:code [ fhir:v "411703" ] ; fhir:display [ fhir:v "Pulmonary non-tuberculous mycobacterial infection" ] ] [ fhir:code [ fhir:v "411709" ] ; fhir:display [ fhir:v "Renal agenesis" ] ] [ fhir:code [ fhir:v "411712" ] ; fhir:display [ fhir:v "Maternal riboflavin deficiency" ] ] [ fhir:code [ fhir:v "411777" ] ; fhir:display [ fhir:v "Generalized eruptive keratoacanthoma" ] ] [ fhir:code [ fhir:v "411788" ] ; fhir:display [ fhir:v "Familial isolated trichomegaly" ] ] [ fhir:code [ fhir:v "411986" ] ; fhir:display [ fhir:v "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "412" ] ; fhir:display [ fhir:v "Dysbetalipoproteinemia" ] ] [ fhir:code [ fhir:v "412022" ] ; fhir:display [ fhir:v "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" ] ] [ fhir:code [ fhir:v "412035" ] ; fhir:display [ fhir:v "13q12.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "412057" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia due to STUB1 deficiency" ] ] [ fhir:code [ fhir:v "412066" ] ; fhir:display [ fhir:v "PRKAR1B-related neurodegenerative dementia with intermediate filaments" ] ] [ fhir:code [ fhir:v "412069" ] ; fhir:display [ fhir:v "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "412181" ] ; fhir:display [ fhir:v "Epidermolysis bullosa simplex due to BP230 deficiency" ] ] [ fhir:code [ fhir:v "412189" ] ; fhir:display [ fhir:v "Epidermolysis bullosa simplex due to exophilin 5 deficiency" ] ] [ fhir:code [ fhir:v "412206" ] ; fhir:display [ fhir:v "Primary failure of tooth eruption" ] ] [ fhir:code [ fhir:v "412217" ] ; fhir:display [ fhir:v "Dystonia-aphonia syndrome" ] ] [ fhir:code [ fhir:v "414" ] ; fhir:display [ fhir:v "Gyrate atrophy of choroid and retina" ] ] [ fhir:code [ fhir:v "415" ] ; fhir:display [ fhir:v "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" ] ] [ fhir:code [ fhir:v "416" ] ; fhir:display [ fhir:v "Primary hyperoxaluria" ] ] [ fhir:code [ fhir:v "417" ] ; fhir:display [ fhir:v "Neonatal severe primary hyperparathyroidism" ] ] [ fhir:code [ fhir:v "41751" ] ; fhir:display [ fhir:v "Bietti crystalline dystrophy" ] ] [ fhir:code [ fhir:v "418945" ] ; fhir:display [ fhir:v "Carcinoma of esophagus, salivary gland type" ] ] [ fhir:code [ fhir:v "418951" ] ; fhir:display [ fhir:v "Undifferentiated carcinoma of esophagus" ] ] [ fhir:code [ fhir:v "418959" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the stomach" ] ] [ fhir:code [ fhir:v "419" ] ; fhir:display [ fhir:v "Hyperprolinemia type 1" ] ] [ fhir:code [ fhir:v "42" ] ; fhir:display [ fhir:v "Medium chain acyl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "420179" ] ; fhir:display [ fhir:v "Malan overgrowth syndrome" ] ] [ fhir:code [ fhir:v "420259" ] ; fhir:display [ fhir:v "Secondary pulmonary alveolar proteinosis" ] ] [ fhir:code [ fhir:v "420402" ] ; fhir:display [ fhir:v "Semicircular canal dehiscence syndrome" ] ] [ fhir:code [ fhir:v "420429" ] ; fhir:display [ fhir:v "Glycogen storage disease due to acid maltase deficiency, late-onset" ] ] [ fhir:code [ fhir:v "420485" ] ; fhir:display [ fhir:v "Cranio-cervical dystonia with laryngeal and upper-limb involvement" ] ] [ fhir:code [ fhir:v "420492" ] ; fhir:display [ fhir:v "Adult-onset cervical dystonia, DYT23 type" ] ] [ fhir:code [ fhir:v "420556" ] ; fhir:display [ fhir:v "Visual snow syndrome" ] ] [ fhir:code [ fhir:v "420561" ] ; fhir:display [ fhir:v "Temple-Baraitser syndrome" ] ] [ fhir:code [ fhir:v "420566" ] ; fhir:display [ fhir:v "Bleeding disorder due to CalDAG-GEFI deficiency" ] ] [ fhir:code [ fhir:v "420573" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to CTPS1 deficiency" ] ] [ fhir:code [ fhir:v "420584" ] ; fhir:display [ fhir:v "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "420611" ] ; fhir:display [ fhir:v "Transient myeloproliferative syndrome" ] ] [ fhir:code [ fhir:v "42062" ] ; fhir:display [ fhir:v "Iminoglycinuria" ] ] [ fhir:code [ fhir:v "420686" ] ; fhir:display [ fhir:v "Woolly hair-palmoplantar keratoderma syndrome" ] ] [ fhir:code [ fhir:v "420699" ] ; fhir:display [ fhir:v "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency" ] ] [ fhir:code [ fhir:v "420702" ] ; fhir:display [ fhir:v "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency" ] ] [ fhir:code [ fhir:v "420728" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 20" ] ] [ fhir:code [ fhir:v "420733" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 21" ] ] [ fhir:code [ fhir:v "420741" ] ; fhir:display [ fhir:v "RIDDLE syndrome" ] ] [ fhir:code [ fhir:v "420789" ] ; fhir:display [ fhir:v "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea" ] ] [ fhir:code [ fhir:v "420794" ] ; fhir:display [ fhir:v "Cono-spondylar dysplasia" ] ] [ fhir:code [ fhir:v "422" ] ; fhir:display [ fhir:v "Idiopathic/heritable pulmonary arterial hypertension" ] ] [ fhir:code [ fhir:v "422526" ] ; fhir:display [ fhir:v "Hereditary clear cell renal cell carcinoma" ] ] [ fhir:code [ fhir:v "423" ] ; fhir:display [ fhir:v "Malignant hyperthermia of anesthesia" ] ] [ fhir:code [ fhir:v "423275" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 40" ] ] [ fhir:code [ fhir:v "423296" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 38" ] ] [ fhir:code [ fhir:v "423306" ] ; fhir:display [ fhir:v "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "423384" ] ; fhir:display [ fhir:v "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" ] ] [ fhir:code [ fhir:v "423454" ] ; fhir:display [ fhir:v "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" ] ] [ fhir:code [ fhir:v "423461" ] ; fhir:display [ fhir:v "Mucolipidosis type III alpha/beta" ] ] [ fhir:code [ fhir:v "423470" ] ; fhir:display [ fhir:v "Mucolipidosis type III gamma" ] ] [ fhir:code [ fhir:v "423479" ] ; fhir:display [ fhir:v "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome" ] ] [ fhir:code [ fhir:v "423693" ] ; fhir:display [ fhir:v "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect" ] ] [ fhir:code [ fhir:v "423712" ] ; fhir:display [ fhir:v "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy" ] ] [ fhir:code [ fhir:v "423717" ] ; fhir:display [ fhir:v "Cutaneous larva migrans" ] ] [ fhir:code [ fhir:v "423786" ] ; fhir:display [ fhir:v "Undifferentiated carcinoma of stomach" ] ] [ fhir:code [ fhir:v "423894" ] ; fhir:display [ fhir:v "Microcephaly-complex motor and sensory axonal neuropathy syndrome" ] ] [ fhir:code [ fhir:v "423968" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the small intestine" ] ] [ fhir:code [ fhir:v "423994" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the colon" ] ] [ fhir:code [ fhir:v "424" ] ; fhir:display [ fhir:v "Familial hyperthyroidism due to mutations in TSH receptor" ] ] [ fhir:code [ fhir:v "424002" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the rectum" ] ] [ fhir:code [ fhir:v "424016" ] ; fhir:display [ fhir:v "Adenocarcinoma of the anal canal" ] ] [ fhir:code [ fhir:v "424019" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the anal canal" ] ] [ fhir:code [ fhir:v "424027" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy type 8" ] ] [ fhir:code [ fhir:v "424039" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of pancreas" ] ] [ fhir:code [ fhir:v "424046" ] ; fhir:display [ fhir:v "Acinar cell carcinoma of pancreas" ] ] [ fhir:code [ fhir:v "424053" ] ; fhir:display [ fhir:v "Mucinous cystadenocarcinoma of the pancreas" ] ] [ fhir:code [ fhir:v "424058" ] ; fhir:display [ fhir:v "Intraductal papillary mucinous carcinoma of pancreas" ] ] [ fhir:code [ fhir:v "424065" ] ; fhir:display [ fhir:v "Solid pseudopapillary carcinoma of pancreas" ] ] [ fhir:code [ fhir:v "424073" ] ; fhir:display [ fhir:v "Serous cystadenocarcinoma of pancreas" ] ] [ fhir:code [ fhir:v "424080" ] ; fhir:display [ fhir:v "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas" ] ] [ fhir:code [ fhir:v "424099" ] ; fhir:display [ fhir:v "Colobomatous microphthalmia-rhizomelic dysplasia syndrome" ] ] [ fhir:code [ fhir:v "424107" ] ; fhir:display [ fhir:v "Congenital myopathy with myasthenic-like onset" ] ] [ fhir:code [ fhir:v "424261" ] ; fhir:display [ fhir:v "TOR1AIP1-related limb-girdle muscular dystrophy" ] ] [ fhir:code [ fhir:v "424943" ] ; fhir:display [ fhir:v "Adenocarcinoma of the liver and intrahepatic biliary tract" ] ] [ fhir:code [ fhir:v "424970" ] ; fhir:display [ fhir:v "Undifferentiated carcinoma of liver and intrahepatic biliary tract" ] ] [ fhir:code [ fhir:v "424975" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of liver and intrahepatic biliary tract" ] ] [ fhir:code [ fhir:v "424982" ] ; fhir:display [ fhir:v "Biliary cystadenocarcinoma" ] ] [ fhir:code [ fhir:v "424991" ] ; fhir:display [ fhir:v "Adenocarcinoma of the gallbladder and extrahepatic biliary tract" ] ] [ fhir:code [ fhir:v "424996" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract" ] ] [ fhir:code [ fhir:v "425" ] ; fhir:display [ fhir:v "Apolipoprotein A-I deficiency" ] ] [ fhir:code [ fhir:v "425120" ] ; fhir:display [ fhir:v "STING-associated vasculopathy with onset in infancy" ] ] [ fhir:code [ fhir:v "42642" ] ; fhir:display [ fhir:v "PFAPA syndrome" ] ] [ fhir:code [ fhir:v "42665" ] ; fhir:display [ fhir:v "Tietz syndrome" ] ] [ fhir:code [ fhir:v "427" ] ; fhir:display [ fhir:v "Familial hypoaldosteronism" ] ] [ fhir:code [ fhir:v "42775" ] ; fhir:display [ fhir:v "PHACE syndrome" ] ] [ fhir:code [ fhir:v "428" ] ; fhir:display [ fhir:v "Autosomal dominant hypocalcemia" ] ] [ fhir:code [ fhir:v "429" ] ; fhir:display [ fhir:v "Hypochondroplasia" ] ] [ fhir:code [ fhir:v "43" ] ; fhir:display [ fhir:v "X-linked adrenoleukodystrophy" ] ] [ fhir:code [ fhir:v "431140" ] ; fhir:display [ fhir:v "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" ] ] [ fhir:code [ fhir:v "431149" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to OX40 deficiency" ] ] [ fhir:code [ fhir:v "43115" ] ; fhir:display [ fhir:v "Hereditary myopathy with lactic acidosis due to ISCU deficiency" ] ] [ fhir:code [ fhir:v "43116" ] ; fhir:display [ fhir:v "Serotonin syndrome" ] ] [ fhir:code [ fhir:v "431166" ] ; fhir:display [ fhir:v "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection" ] ] [ fhir:code [ fhir:v "43117" ] ; fhir:display [ fhir:v "Acute tricyclic antidepressant poisoning" ] ] [ fhir:code [ fhir:v "43119" ] ; fhir:display [ fhir:v "Acute poisoning by drugs with membrane-stabilizing effect" ] ] [ fhir:code [ fhir:v "431255" ] ; fhir:display [ fhir:v "Scapuloperoneal spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "431272" ] ; fhir:display [ fhir:v "X-linked scapuloperoneal muscular dystrophy" ] ] [ fhir:code [ fhir:v "431329" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 57" ] ] [ fhir:code [ fhir:v "431341" ] ; fhir:display [ fhir:v "Patent urachus" ] ] [ fhir:code [ fhir:v "431344" ] ; fhir:display [ fhir:v "Urachal sinus" ] ] [ fhir:code [ fhir:v "431347" ] ; fhir:display [ fhir:v "Urachal diverticulum" ] ] [ fhir:code [ fhir:v "431361" ] ; fhir:display [ fhir:v "Progressive encephalopathy with leukodystrophy due to DECR deficiency" ] ] [ fhir:code [ fhir:v "432" ] ; fhir:display [ fhir:v "Normosmic congenital hypogonadotropic hypogonadism" ] ] [ fhir:code [ fhir:v "43393" ] ; fhir:display [ fhir:v "Lambert-Eaton myasthenic syndrome" ] ] [ fhir:code [ fhir:v "434179" ] ; fhir:display [ fhir:v "Orofaciodigital syndrome type 14" ] ] [ fhir:code [ fhir:v "435329" ] ; fhir:display [ fhir:v "Familial ossifying fibroma" ] ] [ fhir:code [ fhir:v "435372" ] ; fhir:display [ fhir:v "Anterior urethral valve" ] ] [ fhir:code [ fhir:v "435387" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2Y" ] ] [ fhir:code [ fhir:v "435438" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy type 7" ] ] [ fhir:code [ fhir:v "435628" ] ; fhir:display [ fhir:v "Keppen-Lubinsky syndrome" ] ] [ fhir:code [ fhir:v "435638" ] ; fhir:display [ fhir:v "3p25.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "435651" ] ; fhir:display [ fhir:v "CIDEC-related familial partial lipodystrophy" ] ] [ fhir:code [ fhir:v "435660" ] ; fhir:display [ fhir:v "LIPE-related familial partial lipodystrophy" ] ] [ fhir:code [ fhir:v "435804" ] ; fhir:display [ fhir:v "Short stature-advanced bone age-early-onset osteoarthritis syndrome" ] ] [ fhir:code [ fhir:v "435819" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation" ] ] [ fhir:code [ fhir:v "435845" ] ; fhir:display [ fhir:v "Lethal neonatal spasticity-epileptic encephalopathy syndrome" ] ] [ fhir:code [ fhir:v "435930" ] ; fhir:display [ fhir:v "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome" ] ] [ fhir:code [ fhir:v "435934" ] ; fhir:display [ fhir:v "COG2-CDG" ] ] [ fhir:code [ fhir:v "435938" ] ; fhir:display [ fhir:v "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome" ] ] [ fhir:code [ fhir:v "435953" ] ; fhir:display [ fhir:v "Progeroid features-hepatocellular carcinoma predisposition syndrome" ] ] [ fhir:code [ fhir:v "435988" ] ; fhir:display [ fhir:v "Chronic atrial and intestinal dysrhythmia syndrome" ] ] [ fhir:code [ fhir:v "435998" ] ; fhir:display [ fhir:v "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D" ] ] [ fhir:code [ fhir:v "436" ] ; fhir:display [ fhir:v "Hypophosphatasia" ] ] [ fhir:code [ fhir:v "436003" ] ; fhir:display [ fhir:v "Contractures-developmental delay-Pierre Robin syndrome" ] ] [ fhir:code [ fhir:v "436141" ] ; fhir:display [ fhir:v "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome" ] ] [ fhir:code [ fhir:v "436144" ] ; fhir:display [ fhir:v "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome" ] ] [ fhir:code [ fhir:v "436151" ] ; fhir:display [ fhir:v "Intellectual disability-expressive aphasia-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "436159" ] ; fhir:display [ fhir:v "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency" ] ] [ fhir:code [ fhir:v "436166" ] ; fhir:display [ fhir:v "Periodic fever-infantile enterocolitis-autoinflammatory syndrome" ] ] [ fhir:code [ fhir:v "436169" ] ; fhir:display [ fhir:v "Thrombomodulin-related bleeding disorder" ] ] [ fhir:code [ fhir:v "436174" ] ; fhir:display [ fhir:v "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "436182" ] ; fhir:display [ fhir:v "Microcephalic primordial dwarfism-insulin resistance syndrome" ] ] [ fhir:code [ fhir:v "436242" ] ; fhir:display [ fhir:v "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" ] ] [ fhir:code [ fhir:v "436245" ] ; fhir:display [ fhir:v "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "436252" ] ; fhir:display [ fhir:v "Combined immunodeficiency-enteropathy spectrum" ] ] [ fhir:code [ fhir:v "436271" ] ; fhir:display [ fhir:v "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy" ] ] [ fhir:code [ fhir:v "436274" ] ; fhir:display [ fhir:v "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa" ] ] [ fhir:code [ fhir:v "437552" ] ; fhir:display [ fhir:v "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" ] ] [ fhir:code [ fhir:v "438075" ] ; fhir:display [ fhir:v "Ketoacidosis due to monocarboxylate transporter-1 deficiency" ] ] [ fhir:code [ fhir:v "438114" ] ; fhir:display [ fhir:v "RARS-related autosomal recessive hypomyelinating leukodystrophy" ] ] [ fhir:code [ fhir:v "438117" ] ; fhir:display [ fhir:v "Steel syndrome" ] ] [ fhir:code [ fhir:v "438134" ] ; fhir:display [ fhir:v "PCNA-related progressive neurodegenerative photosensitivity syndrome" ] ] [ fhir:code [ fhir:v "438159" ] ; fhir:display [ fhir:v "STAT3-related early-onset multisystem autoimmune disease" ] ] [ fhir:code [ fhir:v "438178" ] ; fhir:display [ fhir:v "Fatty acyl-CoA reductase 1 deficiency" ] ] [ fhir:code [ fhir:v "438207" ] ; fhir:display [ fhir:v "Severe autosomal recessive macrothrombocytopenia" ] ] [ fhir:code [ fhir:v "438213" ] ; fhir:display [ fhir:v "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome" ] ] [ fhir:code [ fhir:v "438216" ] ; fhir:display [ fhir:v "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "438266" ] ; fhir:display [ fhir:v "Progressive encephalomyelitis with rigidity and myoclonus" ] ] [ fhir:code [ fhir:v "438274" ] ; fhir:display [ fhir:v "GCGR-related hyperglucagonemia" ] ] [ fhir:code [ fhir:v "438279" ] ; fhir:display [ fhir:v "Human infection by orthopoxvirus" ] ] [ fhir:code [ fhir:v "439" ] ; fhir:display [ fhir:v "Isolated right ventricular hypoplasia" ] ] [ fhir:code [ fhir:v "439167" ] ; fhir:display [ fhir:v "Placental insufficiency" ] ] [ fhir:code [ fhir:v "439175" ] ; fhir:display [ fhir:v "Pediatric arterial ischemic stroke" ] ] [ fhir:code [ fhir:v "439196" ] ; fhir:display [ fhir:v "Zinc-responsive necrolytic acral erythema" ] ] [ fhir:code [ fhir:v "439202" ] ; fhir:display [ fhir:v "Non-recovering obstetric brachial plexus lesion" ] ] [ fhir:code [ fhir:v "439212" ] ; fhir:display [ fhir:v "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" ] ] [ fhir:code [ fhir:v "439218" ] ; fhir:display [ fhir:v "KCNQ2-related epileptic encephalopathy" ] ] [ fhir:code [ fhir:v "439224" ] ; fhir:display [ fhir:v "ALECT2 amyloidosis" ] ] [ fhir:code [ fhir:v "439232" ] ; fhir:display [ fhir:v "AApoAIV amyloidosis" ] ] [ fhir:code [ fhir:v "439254" ] ; fhir:display [ fhir:v "ITM2B amyloidosis" ] ] [ fhir:code [ fhir:v "439729" ] ; fhir:display [ fhir:v "Cutaneous polyarteritis nodosa" ] ] [ fhir:code [ fhir:v "439737" ] ; fhir:display [ fhir:v "Primary polyarteritis nodosa" ] ] [ fhir:code [ fhir:v "439746" ] ; fhir:display [ fhir:v "Secondary polyarteritis nodosa" ] ] [ fhir:code [ fhir:v "439755" ] ; fhir:display [ fhir:v "Single-organ polyarteritis nodosa" ] ] [ fhir:code [ fhir:v "439762" ] ; fhir:display [ fhir:v "Systemic polyarteritis nodosa" ] ] [ fhir:code [ fhir:v "439822" ] ; fhir:display [ fhir:v "PDE4D haploinsufficiency syndrome" ] ] [ fhir:code [ fhir:v "439854" ] ; fhir:display [ fhir:v "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" ] ] [ fhir:code [ fhir:v "439881" ] ; fhir:display [ fhir:v "Plastic bronchitis" ] ] [ fhir:code [ fhir:v "439897" ] ; fhir:display [ fhir:v "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "44" ] ; fhir:display [ fhir:v "Neonatal adrenoleukodystrophy" ] ] [ fhir:code [ fhir:v "440221" ] ; fhir:display [ fhir:v "Congenital oculomotor nerve palsy" ] ] [ fhir:code [ fhir:v "440233" ] ; fhir:display [ fhir:v "Congenital abducens nerve palsy" ] ] [ fhir:code [ fhir:v "440354" ] ; fhir:display [ fhir:v "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome" ] ] [ fhir:code [ fhir:v "440368" ] ; fhir:display [ fhir:v "Necrotizing soft tissue infection" ] ] [ fhir:code [ fhir:v "440392" ] ; fhir:display [ fhir:v "Interstitial lung disease due to SP-C deficiency" ] ] [ fhir:code [ fhir:v "440402" ] ; fhir:display [ fhir:v "Interstitial lung disease due to ABCA3 deficiency" ] ] [ fhir:code [ fhir:v "440427" ] ; fhir:display [ fhir:v "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency" ] ] [ fhir:code [ fhir:v "440437" ] ; fhir:display [ fhir:v "Familial colorectal cancer Type X" ] ] [ fhir:code [ fhir:v "440706" ] ; fhir:display [ fhir:v "Ribose-5-P isomerase deficiency" ] ] [ fhir:code [ fhir:v "440713" ] ; fhir:display [ fhir:v "Isolated sedoheptulokinase deficiency" ] ] [ fhir:code [ fhir:v "440724" ] ; fhir:display [ fhir:v "Extensive peripapillary myelinated nerve fibers" ] ] [ fhir:code [ fhir:v "440727" ] ; fhir:display [ fhir:v "Combined hamartoma of the retina and retinal pigment epithelium" ] ] [ fhir:code [ fhir:v "440731" ] ; fhir:display [ fhir:v "L-ferritin deficiency" ] ] [ fhir:code [ fhir:v "440987" ] ; fhir:display [ fhir:v "Isolated agenesis of gallbladder" ] ] [ fhir:code [ fhir:v "441" ] ; fhir:display [ fhir:v "Pure autonomic failure" ] ] [ fhir:code [ fhir:v "441447" ] ; fhir:display [ fhir:v "Early-onset posterior subcapsular cataract" ] ] [ fhir:code [ fhir:v "441452" ] ; fhir:display [ fhir:v "Early-onset lamellar cataract" ] ] [ fhir:code [ fhir:v "442582" ] ; fhir:display [ fhir:v "AH amyloidosis" ] ] [ fhir:code [ fhir:v "442835" ] ; fhir:display [ fhir:v "Non-specific early-onset epileptic encephalopathy" ] ] [ fhir:code [ fhir:v "443057" ] ; fhir:display [ fhir:v "Sporadic porphyria cutanea tarda" ] ] [ fhir:code [ fhir:v "443062" ] ; fhir:display [ fhir:v "Familial porphyria cutanea tarda" ] ] [ fhir:code [ fhir:v "443070" ] ; fhir:display [ fhir:v "Hemicrania continua" ] ] [ fhir:code [ fhir:v "443073" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2S" ] ] [ fhir:code [ fhir:v "443079" ] ; fhir:display [ fhir:v "Central serous chorioretinopathy" ] ] [ fhir:code [ fhir:v "443084" ] ; fhir:display [ fhir:v "Baroreflex failure" ] ] [ fhir:code [ fhir:v "443087" ] ; fhir:display [ fhir:v "46,XY difference of sex development due to testicular 17,20-desmolase deficiency" ] ] [ fhir:code [ fhir:v "443098" ] ; fhir:display [ fhir:v "Hyperostosis cranialis interna" ] ] [ fhir:code [ fhir:v "443101" ] ; fhir:display [ fhir:v "Hypothalamic adipsic hypernatraemia syndrome" ] ] [ fhir:code [ fhir:v "443159" ] ; fhir:display [ fhir:v "Lymphoplasmacytic lymphoma without IgM production" ] ] [ fhir:code [ fhir:v "443162" ] ; fhir:display [ fhir:v "NDE1-related microhydranencephaly" ] ] [ fhir:code [ fhir:v "443167" ] ; fhir:display [ fhir:v "NUT midline carcinoma" ] ] [ fhir:code [ fhir:v "443173" ] ; fhir:display [ fhir:v "Postpartum psychosis" ] ] [ fhir:code [ fhir:v "443180" ] ; fhir:display [ fhir:v "Spontaneous intracranial hypotension" ] ] [ fhir:code [ fhir:v "443192" ] ; fhir:display [ fhir:v "Classic stiff person syndrome" ] ] [ fhir:code [ fhir:v "443197" ] ; fhir:display [ fhir:v "X-linked erythropoietic protoporphyria" ] ] [ fhir:code [ fhir:v "443227" ] ; fhir:display [ fhir:v "Paratyphoid fever" ] ] [ fhir:code [ fhir:v "443236" ] ; fhir:display [ fhir:v "Postural orthostatic tachycardia syndrome due to NET deficiency" ] ] [ fhir:code [ fhir:v "443291" ] ; fhir:display [ fhir:v "HIV-associated cancer" ] ] [ fhir:code [ fhir:v "443804" ] ; fhir:display [ fhir:v "Focal stiff limb syndrome" ] ] [ fhir:code [ fhir:v "443811" ] ; fhir:display [ fhir:v "PGM3-CDG" ] ] [ fhir:code [ fhir:v "443950" ] ; fhir:display [ fhir:v "DNAJB2-related Charcot-Marie-Tooth disease type 2" ] ] [ fhir:code [ fhir:v "443988" ] ; fhir:display [ fhir:v "Ventriculomegaly-cystic kidney disease" ] ] [ fhir:code [ fhir:v "443995" ] ; fhir:display [ fhir:v "Mandibulofacial dysostosis with alopecia" ] ] [ fhir:code [ fhir:v "444" ] ; fhir:display [ fhir:v "Marie Unna hereditary hypotrichosis" ] ] [ fhir:code [ fhir:v "444002" ] ; fhir:display [ fhir:v "11q22.2q22.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "444013" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 23" ] ] [ fhir:code [ fhir:v "444048" ] ; fhir:display [ fhir:v "46,XX ovarian dysgenesis-short stature syndrome" ] ] [ fhir:code [ fhir:v "444051" ] ; fhir:display [ fhir:v "20q11.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "444069" ] ; fhir:display [ fhir:v "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "444072" ] ; fhir:display [ fhir:v "Cerebellar-facial-dental syndrome" ] ] [ fhir:code [ fhir:v "444077" ] ; fhir:display [ fhir:v "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "444092" ] ; fhir:display [ fhir:v "Autoimmune interstitial lung disease-arthritis syndrome" ] ] [ fhir:code [ fhir:v "444099" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 73" ] ] [ fhir:code [ fhir:v "444138" ] ; fhir:display [ fhir:v "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" ] ] [ fhir:code [ fhir:v "444316" ] ; fhir:display [ fhir:v "Idiopathic phalangeal acro-osteolysis" ] ] [ fhir:code [ fhir:v "444458" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 24" ] ] [ fhir:code [ fhir:v "444463" ] ; fhir:display [ fhir:v "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome" ] ] [ fhir:code [ fhir:v "444490" ] ; fhir:display [ fhir:v "Familial chylomicronemia syndrome" ] ] [ fhir:code [ fhir:v "445018" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to LRBA deficiency" ] ] [ fhir:code [ fhir:v "445038" ] ; fhir:display [ fhir:v "3-methylglutaconic aciduria type 7" ] ] [ fhir:code [ fhir:v "445062" ] ; fhir:display [ fhir:v "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome" ] ] [ fhir:code [ fhir:v "445110" ] ; fhir:display [ fhir:v "Limb-girdle muscular dystrophy due to POMK deficiency" ] ] [ fhir:code [ fhir:v "446" ] ; fhir:display [ fhir:v "Neonatal hemochromatosis" ] ] [ fhir:code [ fhir:v "447" ] ; fhir:display [ fhir:v "Paroxysmal nocturnal hemoglobinuria" ] ] [ fhir:code [ fhir:v "447731" ] ; fhir:display [ fhir:v "NIK deficiency" ] ] [ fhir:code [ fhir:v "447737" ] ; fhir:display [ fhir:v "DOCK2 deficiency" ] ] [ fhir:code [ fhir:v "447740" ] ; fhir:display [ fhir:v "Susceptibility to localized juvenile periodontitis" ] ] [ fhir:code [ fhir:v "447753" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 9A" ] ] [ fhir:code [ fhir:v "447757" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 9B" ] ] [ fhir:code [ fhir:v "447760" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 9B" ] ] [ fhir:code [ fhir:v "447764" ] ; fhir:display [ fhir:v "IgG4-related sclerosing cholangitis" ] ] [ fhir:code [ fhir:v "447774" ] ; fhir:display [ fhir:v "Secondary sclerosing cholangitis" ] ] [ fhir:code [ fhir:v "447777" ] ; fhir:display [ fhir:v "Keratocystic odontogenic tumor" ] ] [ fhir:code [ fhir:v "447784" ] ; fhir:display [ fhir:v "Mitochondrial pyruvate carrier deficiency" ] ] [ fhir:code [ fhir:v "447788" ] ; fhir:display [ fhir:v "Cerebral visual impairment" ] ] [ fhir:code [ fhir:v "447795" ] ; fhir:display [ fhir:v "Lipoyl transferase 2 deficiency" ] ] [ fhir:code [ fhir:v "447877" ] ; fhir:display [ fhir:v "Polymerase proofreading-related adenomatous polyposis" ] ] [ fhir:code [ fhir:v "447881" ] ; fhir:display [ fhir:v "Idiopathic dropped head syndrome" ] ] [ fhir:code [ fhir:v "447893" ] ; fhir:display [ fhir:v "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" ] ] [ fhir:code [ fhir:v "447896" ] ; fhir:display [ fhir:v "Tremor-ataxia-central hypomyelination syndrome" ] ] [ fhir:code [ fhir:v "447954" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 25" ] ] [ fhir:code [ fhir:v "447961" ] ; fhir:display [ fhir:v "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome" ] ] [ fhir:code [ fhir:v "447964" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2V" ] ] [ fhir:code [ fhir:v "447974" ] ; fhir:display [ fhir:v "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "447977" ] ; fhir:display [ fhir:v "Progressive scapulohumeroperoneal distal myopathy" ] ] [ fhir:code [ fhir:v "447980" ] ; fhir:display [ fhir:v "19p13.3 microduplication syndrome" ] ] [ fhir:code [ fhir:v "447997" ] ; fhir:display [ fhir:v "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" ] ] [ fhir:code [ fhir:v "448010" ] ; fhir:display [ fhir:v "CAD-CDG" ] ] [ fhir:code [ fhir:v "448237" ] ; fhir:display [ fhir:v "Zika virus disease" ] ] [ fhir:code [ fhir:v "448242" ] ; fhir:display [ fhir:v "Autosomal recessive brachyolmia" ] ] [ fhir:code [ fhir:v "448251" ] ; fhir:display [ fhir:v "Progressive autosomal recessive ataxia-deafness syndrome" ] ] [ fhir:code [ fhir:v "448264" ] ; fhir:display [ fhir:v "Isolated focal non-epidermolytic palmoplantar keratoderma" ] ] [ fhir:code [ fhir:v "448267" ] ; fhir:display [ fhir:v "Regressive spondylometaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "448270" ] ; fhir:display [ fhir:v "Ectopia cordis" ] ] [ fhir:code [ fhir:v "44890" ] ; fhir:display [ fhir:v "Gastrointestinal stromal tumor" ] ] [ fhir:code [ fhir:v "449" ] ; fhir:display [ fhir:v "Hepatoblastoma" ] ] [ fhir:code [ fhir:v "449266" ] ; fhir:display [ fhir:v "Pleural empyema" ] ] [ fhir:code [ fhir:v "449280" ] ; fhir:display [ fhir:v "Scedosporiosis" ] ] [ fhir:code [ fhir:v "449285" ] ; fhir:display [ fhir:v "Snakebite envenomation" ] ] [ fhir:code [ fhir:v "449291" ] ; fhir:display [ fhir:v "Symptomatic form of fragile X syndrome in female carriers" ] ] [ fhir:code [ fhir:v "449395" ] ; fhir:display [ fhir:v "IgG4-related kidney disease" ] ] [ fhir:code [ fhir:v "449400" ] ; fhir:display [ fhir:v "IgG4-related aortitis" ] ] [ fhir:code [ fhir:v "449427" ] ; fhir:display [ fhir:v "IgG4-related pachymeningitis" ] ] [ fhir:code [ fhir:v "449432" ] ; fhir:display [ fhir:v "IgG4-related submandibular gland disease" ] ] [ fhir:code [ fhir:v "449563" ] ; fhir:display [ fhir:v "IgG4-related ophthalmic disease" ] ] [ fhir:code [ fhir:v "449566" ] ; fhir:display [ fhir:v "Eosinophilic angiocentric fibrosis" ] ] [ fhir:code [ fhir:v "45" ] ; fhir:display [ fhir:v "Adenosine monophosphate deaminase deficiency" ] ] [ fhir:code [ fhir:v "450322" ] ; fhir:display [ fhir:v "Polyclonal hyperviscosity syndrome" ] ] [ fhir:code [ fhir:v "451602" ] ; fhir:display [ fhir:v "Primary cutaneous plasmacytosis" ] ] [ fhir:code [ fhir:v "451607" ] ; fhir:display [ fhir:v "Cutaneous pseudolymphoma" ] ] [ fhir:code [ fhir:v "451612" ] ; fhir:display [ fhir:v "Familial congenital nasolacrimal duct obstruction" ] ] [ fhir:code [ fhir:v "452" ] ; fhir:display [ fhir:v "X-linked lissencephaly with abnormal genitalia" ] ] [ fhir:code [ fhir:v "453499" ] ; fhir:display [ fhir:v "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome" ] ] [ fhir:code [ fhir:v "453504" ] ; fhir:display [ fhir:v "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "453510" ] ; fhir:display [ fhir:v "Congenital insensitivity to pain with severe intellectual disability" ] ] [ fhir:code [ fhir:v "453521" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency" ] ] [ fhir:code [ fhir:v "453533" ] ; fhir:display [ fhir:v "Polyendocrine-polyneuropathy syndrome" ] ] [ fhir:code [ fhir:v "45358" ] ; fhir:display [ fhir:v "Congenital fibrosis of extraocular muscles" ] ] [ fhir:code [ fhir:v "454" ] ; fhir:display [ fhir:v "Acquired ichthyosis" ] ] [ fhir:code [ fhir:v "45448" ] ; fhir:display [ fhir:v "Miyoshi myopathy" ] ] [ fhir:code [ fhir:v "45452" ] ; fhir:display [ fhir:v "Idiopathic neonatal atrial flutter" ] ] [ fhir:code [ fhir:v "45453" ] ; fhir:display [ fhir:v "Incessant infant ventricular tachycardia" ] ] [ fhir:code [ fhir:v "454706" ] ; fhir:display [ fhir:v "Progressive muscular atrophy" ] ] [ fhir:code [ fhir:v "454710" ] ; fhir:display [ fhir:v "Anti-p200 pemphigoid" ] ] [ fhir:code [ fhir:v "454714" ] ; fhir:display [ fhir:v "Plasma cell leukemia" ] ] [ fhir:code [ fhir:v "454718" ] ; fhir:display [ fhir:v "Holmes-Adie syndrome" ] ] [ fhir:code [ fhir:v "454723" ] ; fhir:display [ fhir:v "Endometrioid carcinoma of ovary" ] ] [ fhir:code [ fhir:v "454742" ] ; fhir:display [ fhir:v "Variably protease-sensitive prionopathy" ] ] [ fhir:code [ fhir:v "454745" ] ; fhir:display [ fhir:v "Kuru" ] ] [ fhir:code [ fhir:v "454750" ] ; fhir:display [ fhir:v "Isolated tracheoesophageal fistula" ] ] [ fhir:code [ fhir:v "454821" ] ; fhir:display [ fhir:v "Pleomorphic salivary gland adenoma" ] ] [ fhir:code [ fhir:v "454831" ] ; fhir:display [ fhir:v "Acute radiation syndrome" ] ] [ fhir:code [ fhir:v "454836" ] ; fhir:display [ fhir:v "Avian influenza" ] ] [ fhir:code [ fhir:v "454840" ] ; fhir:display [ fhir:v "NTHL1-related attenuated familial adenomatous polyposis" ] ] [ fhir:code [ fhir:v "454887" ] ; fhir:display [ fhir:v "Corticobasal syndrome" ] ] [ fhir:code [ fhir:v "455" ] ; fhir:display [ fhir:v "Superficial epidermolytic ichthyosis" ] ] [ fhir:code [ fhir:v "456298" ] ; fhir:display [ fhir:v "1p35.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "456312" ] ; fhir:display [ fhir:v "Infantile multisystem neurologic-endocrine-pancreatic disease" ] ] [ fhir:code [ fhir:v "456318" ] ; fhir:display [ fhir:v "Hereditary sensory neuropathy-deafness-dementia syndrome" ] ] [ fhir:code [ fhir:v "456328" ] ; fhir:display [ fhir:v "X-linked myotubular myopathy-abnormal genitalia syndrome" ] ] [ fhir:code [ fhir:v "456333" ] ; fhir:display [ fhir:v "Hereditary neuroendocrine tumor of small intestine" ] ] [ fhir:code [ fhir:v "456369" ] ; fhir:display [ fhir:v "Polyglucosan body myopathy type 2" ] ] [ fhir:code [ fhir:v "457" ] ; fhir:display [ fhir:v "Harlequin ichthyosis" ] ] [ fhir:code [ fhir:v "457050" ] ; fhir:display [ fhir:v "Autosomal dominant mitochondrial myopathy with exercise intolerance" ] ] [ fhir:code [ fhir:v "457077" ] ; fhir:display [ fhir:v "TAFRO syndrome" ] ] [ fhir:code [ fhir:v "457083" ] ; fhir:display [ fhir:v "Isolated splenogonadal fusion" ] ] [ fhir:code [ fhir:v "457088" ] ; fhir:display [ fhir:v "Predisposition to invasive fungal disease due to CARD9 deficiency" ] ] [ fhir:code [ fhir:v "457095" ] ; fhir:display [ fhir:v "Actinomycosis" ] ] [ fhir:code [ fhir:v "457185" ] ; fhir:display [ fhir:v "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" ] ] [ fhir:code [ fhir:v "457193" ] ; fhir:display [ fhir:v "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" ] ] [ fhir:code [ fhir:v "457205" ] ; fhir:display [ fhir:v "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome" ] ] [ fhir:code [ fhir:v "457212" ] ; fhir:display [ fhir:v "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome" ] ] [ fhir:code [ fhir:v "457223" ] ; fhir:display [ fhir:v "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect" ] ] [ fhir:code [ fhir:v "457240" ] ; fhir:display [ fhir:v "X-linked intellectual disability-short stature-overweight syndrome" ] ] [ fhir:code [ fhir:v "457246" ] ; fhir:display [ fhir:v "Clear cell sarcoma of kidney" ] ] [ fhir:code [ fhir:v "457260" ] ; fhir:display [ fhir:v "X-linked intellectual disability-hypotonia-movement disorder syndrome" ] ] [ fhir:code [ fhir:v "457265" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy type 9" ] ] [ fhir:code [ fhir:v "457279" ] ; fhir:display [ fhir:v "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome" ] ] [ fhir:code [ fhir:v "457284" ] ; fhir:display [ fhir:v "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "457351" ] ; fhir:display [ fhir:v "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome" ] ] [ fhir:code [ fhir:v "457359" ] ; fhir:display [ fhir:v "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome" ] ] [ fhir:code [ fhir:v "457365" ] ; fhir:display [ fhir:v "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "457375" ] ; fhir:display [ fhir:v "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement" ] ] [ fhir:code [ fhir:v "457378" ] ; fhir:display [ fhir:v "Complex lethal osteochondrodysplasia" ] ] [ fhir:code [ fhir:v "457395" ] ; fhir:display [ fhir:v "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "457406" ] ; fhir:display [ fhir:v "Multiple mitochondrial dysfunctions syndrome type 4" ] ] [ fhir:code [ fhir:v "457485" ] ; fhir:display [ fhir:v "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" ] ] [ fhir:code [ fhir:v "458718" ] ; fhir:display [ fhir:v "Idiopathic spontaneous coronary artery dissection" ] ] [ fhir:code [ fhir:v "458758" ] ; fhir:display [ fhir:v "Composite hemangioendothelioma" ] ] [ fhir:code [ fhir:v "458763" ] ; fhir:display [ fhir:v "Retiform hemangioendothelioma" ] ] [ fhir:code [ fhir:v "458768" ] ; fhir:display [ fhir:v "Primary intralymphatic angioendothelioma" ] ] [ fhir:code [ fhir:v "458785" ] ; fhir:display [ fhir:v "Partially involuting congenital hemangioma" ] ] [ fhir:code [ fhir:v "458792" ] ; fhir:display [ fhir:v "Mixed cystic lymphatic malformation" ] ] [ fhir:code [ fhir:v "458798" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 41" ] ] [ fhir:code [ fhir:v "458803" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 42" ] ] [ fhir:code [ fhir:v "459033" ] ; fhir:display [ fhir:v "Ataxia-oculomotor apraxia type 4" ] ] [ fhir:code [ fhir:v "459051" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia, Stanescu type" ] ] [ fhir:code [ fhir:v "459056" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 75" ] ] [ fhir:code [ fhir:v "459061" ] ; fhir:display [ fhir:v "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "459070" ] ; fhir:display [ fhir:v "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "459074" ] ; fhir:display [ fhir:v "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome" ] ] [ fhir:code [ fhir:v "46" ] ; fhir:display [ fhir:v "Adenylosuccinate lyase deficiency" ] ] [ fhir:code [ fhir:v "46059" ] ; fhir:display [ fhir:v "Lathosterolosis" ] ] [ fhir:code [ fhir:v "461" ] ; fhir:display [ fhir:v "Recessive X-linked ichthyosis" ] ] [ fhir:code [ fhir:v "46135" ] ; fhir:display [ fhir:v "Primary central nervous system lymphoma" ] ] [ fhir:code [ fhir:v "46348" ] ; fhir:display [ fhir:v "Paroxysmal extreme pain disorder" ] ] [ fhir:code [ fhir:v "464" ] ; fhir:display [ fhir:v "Incontinentia pigmenti" ] ] [ fhir:code [ fhir:v "464282" ] ; fhir:display [ fhir:v "Spastic paraplegia-severe developmental delay-epilepsy syndrome" ] ] [ fhir:code [ fhir:v "464288" ] ; fhir:display [ fhir:v "Short stature-brachydactyly-obesity-global developmental delay syndrome" ] ] [ fhir:code [ fhir:v "464306" ] ; fhir:display [ fhir:v "DYRK1A-related intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "464311" ] ; fhir:display [ fhir:v "Intellectual disability syndrome due to a DYRK1A point mutation" ] ] [ fhir:code [ fhir:v "464318" ] ; fhir:display [ fhir:v "Verrucous hemangioma" ] ] [ fhir:code [ fhir:v "464321" ] ; fhir:display [ fhir:v "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome" ] ] [ fhir:code [ fhir:v "464329" ] ; fhir:display [ fhir:v "Kaposiform lymphangiomatosis" ] ] [ fhir:code [ fhir:v "464336" ] ; fhir:display [ fhir:v "BENTA disease" ] ] [ fhir:code [ fhir:v "464343" ] ; fhir:display [ fhir:v "Catastrophic antiphospholipid syndrome" ] ] [ fhir:code [ fhir:v "464359" ] ; fhir:display [ fhir:v "Benign metanephric tumor" ] ] [ fhir:code [ fhir:v "464366" ] ; fhir:display [ fhir:v "NEK9-related lethal skeletal dysplasia" ] ] [ fhir:code [ fhir:v "464370" ] ; fhir:display [ fhir:v "Neonatal alloimmune neutropenia" ] ] [ fhir:code [ fhir:v "464440" ] ; fhir:display [ fhir:v "Primary dystonia, DYT27 type" ] ] [ fhir:code [ fhir:v "464443" ] ; fhir:display [ fhir:v "COG6-CGD" ] ] [ fhir:code [ fhir:v "464453" ] ; fhir:display [ fhir:v "Acquired methemoglobinemia" ] ] [ fhir:code [ fhir:v "464458" ] ; fhir:display [ fhir:v "Paracetamol poisoning" ] ] [ fhir:code [ fhir:v "464724" ] ; fhir:display [ fhir:v "Fever-associated acute infantile liver failure syndrome" ] ] [ fhir:code [ fhir:v "464738" ] ; fhir:display [ fhir:v "Basel-Vanagaite-Smirin-Yosef syndrome" ] ] [ fhir:code [ fhir:v "464756" ] ; fhir:display [ fhir:v "Familial gastric type 1 neuroendocrine tumor" ] ] [ fhir:code [ fhir:v "464760" ] ; fhir:display [ fhir:v "Familial cavitary optic disc anomaly" ] ] [ fhir:code [ fhir:v "46486" ] ; fhir:display [ fhir:v "Mucous membrane pemphigoid" ] ] [ fhir:code [ fhir:v "46487" ] ; fhir:display [ fhir:v "Epidermolysis bullosa acquisita" ] ] [ fhir:code [ fhir:v "46488" ] ; fhir:display [ fhir:v "Linear IgA dermatosis" ] ] [ fhir:code [ fhir:v "465" ] ; fhir:display [ fhir:v "Congenital plasminogen activator inhibitor type 1 deficiency" ] ] [ fhir:code [ fhir:v "46532" ] ; fhir:display [ fhir:v "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome" ] ] [ fhir:code [ fhir:v "465508" ] ; fhir:display [ fhir:v "Symptomatic form of HFE-related hemochromatosis" ] ] [ fhir:code [ fhir:v "465824" ] ; fhir:display [ fhir:v "Fetal encasement syndrome" ] ] [ fhir:code [ fhir:v "466" ] ; fhir:display [ fhir:v "Fatal familial insomnia" ] ] [ fhir:code [ fhir:v "466026" ] ; fhir:display [ fhir:v "Class I glucose-6-phosphate dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "46627" ] ; fhir:display [ fhir:v "Char syndrome" ] ] [ fhir:code [ fhir:v "466650" ] ; fhir:display [ fhir:v "Exercise-induced malignant hyperthermia" ] ] [ fhir:code [ fhir:v "466670" ] ; fhir:display [ fhir:v "Cyanide poisoning" ] ] [ fhir:code [ fhir:v "466677" ] ; fhir:display [ fhir:v "Scorpion envenomation" ] ] [ fhir:code [ fhir:v "466682" ] ; fhir:display [ fhir:v "Euthyroid Graves orbitopathy" ] ] [ fhir:code [ fhir:v "466688" ] ; fhir:display [ fhir:v "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome" ] ] [ fhir:code [ fhir:v "466695" ] ; fhir:display [ fhir:v "Supratip dysplasia" ] ] [ fhir:code [ fhir:v "466703" ] ; fhir:display [ fhir:v "TMEM199-CDG" ] ] [ fhir:code [ fhir:v "466718" ] ; fhir:display [ fhir:v "Martinique crinkled retinal pigment epitheliopathy" ] ] [ fhir:code [ fhir:v "466722" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 77" ] ] [ fhir:code [ fhir:v "466729" ] ; fhir:display [ fhir:v "Familial patent arterial duct" ] ] [ fhir:code [ fhir:v "466768" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2Z" ] ] [ fhir:code [ fhir:v "466775" ] ; fhir:display [ fhir:v "Autosomal recessive Charcot-Marie-Tooth disease type 2X" ] ] [ fhir:code [ fhir:v "466784" ] ; fhir:display [ fhir:v "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" ] ] [ fhir:code [ fhir:v "466791" ] ; fhir:display [ fhir:v "Macrocephaly-intellectual disability-left ventricular non compaction syndrome" ] ] [ fhir:code [ fhir:v "466794" ] ; fhir:display [ fhir:v "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" ] ] [ fhir:code [ fhir:v "466806" ] ; fhir:display [ fhir:v "Autosomal dominant thrombocytopenia with platelet secretion defect" ] ] [ fhir:code [ fhir:v "466921" ] ; fhir:display [ fhir:v "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome" ] ] [ fhir:code [ fhir:v "466926" ] ; fhir:display [ fhir:v "Seizures-scoliosis-macrocephaly syndrome" ] ] [ fhir:code [ fhir:v "466934" ] ; fhir:display [ fhir:v "VPS11-related autosomal recessive hypomyelinating leukodystrophy" ] ] [ fhir:code [ fhir:v "466943" ] ; fhir:display [ fhir:v "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" ] ] [ fhir:code [ fhir:v "466950" ] ; fhir:display [ fhir:v "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" ] ] [ fhir:code [ fhir:v "466962" ] ; fhir:display [ fhir:v "SMARCA4-deficient sarcoma of thorax" ] ] [ fhir:code [ fhir:v "467166" ] ; fhir:display [ fhir:v "Tubulinopathy-associated dysgyria" ] ] [ fhir:code [ fhir:v "467176" ] ; fhir:display [ fhir:v "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome" ] ] [ fhir:code [ fhir:v "46724" ] ; fhir:display [ fhir:v "Cerebral arteriovenous malformation" ] ] [ fhir:code [ fhir:v "468620" ] ; fhir:display [ fhir:v "Intellectual disability-epilepsy-extrapyramidal syndrome" ] ] [ fhir:code [ fhir:v "468631" ] ; fhir:display [ fhir:v "Microcephalic cortical malformations-short stature due to RTTN deficiency" ] ] [ fhir:code [ fhir:v "468635" ] ; fhir:display [ fhir:v "Cryptogenic multifocal ulcerous stenosing enteritis" ] ] [ fhir:code [ fhir:v "468641" ] ; fhir:display [ fhir:v "Chronic enteropathy associated with SLCO2A1 gene" ] ] [ fhir:code [ fhir:v "468661" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 74" ] ] [ fhir:code [ fhir:v "468666" ] ; fhir:display [ fhir:v "Isolated generalized anhidrosis with normal sweat glands" ] ] [ fhir:code [ fhir:v "468672" ] ; fhir:display [ fhir:v "Colobomatous macrophthalmia-microcornea syndrome" ] ] [ fhir:code [ fhir:v "468678" ] ; fhir:display [ fhir:v "White-Sutton syndrome" ] ] [ fhir:code [ fhir:v "468684" ] ; fhir:display [ fhir:v "CCDC115-CDG" ] ] [ fhir:code [ fhir:v "468699" ] ; fhir:display [ fhir:v "SLC39A8-CDG" ] ] [ fhir:code [ fhir:v "468717" ] ; fhir:display [ fhir:v "Rhizomelic chondrodysplasia punctata type 5" ] ] [ fhir:code [ fhir:v "468726" ] ; fhir:display [ fhir:v "Severe primary trimethylaminuria" ] ] [ fhir:code [ fhir:v "469" ] ; fhir:display [ fhir:v "Hereditary fructose intolerance" ] ] [ fhir:code [ fhir:v "47" ] ; fhir:display [ fhir:v "X-linked agammaglobulinemia" ] ] [ fhir:code [ fhir:v "470" ] ; fhir:display [ fhir:v "Lysinuric protein intolerance" ] ] [ fhir:code [ fhir:v "47044" ] ; fhir:display [ fhir:v "Hereditary papillary renal cell carcinoma" ] ] [ fhir:code [ fhir:v "47045" ] ; fhir:display [ fhir:v "Familial cold urticaria" ] ] [ fhir:code [ fhir:v "47159" ] ; fhir:display [ fhir:v "Proximal renal tubular acidosis" ] ] [ fhir:code [ fhir:v "472" ] ; fhir:display [ fhir:v "Isosporiasis" ] ] [ fhir:code [ fhir:v "474" ] ; fhir:display [ fhir:v "Jeune syndrome" ] ] [ fhir:code [ fhir:v "475" ] ; fhir:display [ fhir:v "Joubert syndrome" ] ] [ fhir:code [ fhir:v "476084" ] ; fhir:display [ fhir:v "BVES-related limb-girdle muscular dystrophy" ] ] [ fhir:code [ fhir:v "476093" ] ; fhir:display [ fhir:v "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome" ] ] [ fhir:code [ fhir:v "476096" ] ; fhir:display [ fhir:v "Erythrokeratodermia-cardiomyopathy syndrome" ] ] [ fhir:code [ fhir:v "476102" ] ; fhir:display [ fhir:v "Hereditary pediatric Behçet-like disease" ] ] [ fhir:code [ fhir:v "476113" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to TFRC deficiency" ] ] [ fhir:code [ fhir:v "476119" ] ; fhir:display [ fhir:v "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome" ] ] [ fhir:code [ fhir:v "47612" ] ; fhir:display [ fhir:v "Felty syndrome" ] ] [ fhir:code [ fhir:v "476126" ] ; fhir:display [ fhir:v "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "476394" ] ; fhir:display [ fhir:v "PMP2-related Charcot-Marie-Tooth disease type 1" ] ] [ fhir:code [ fhir:v "476406" ] ; fhir:display [ fhir:v "Congenital generalized hypercontractile muscle stiffness syndrome" ] ] [ fhir:code [ fhir:v "477" ] ; fhir:display [ fhir:v "KID syndrome" ] ] [ fhir:code [ fhir:v "477650" ] ; fhir:display [ fhir:v "Fibroblastic rheumatism" ] ] [ fhir:code [ fhir:v "477661" ] ; fhir:display [ fhir:v "IL21-related infantile inflammatory bowel disease" ] ] [ fhir:code [ fhir:v "477673" ] ; fhir:display [ fhir:v "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "477684" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 26" ] ] [ fhir:code [ fhir:v "477738" ] ; fhir:display [ fhir:v "Pediatric multiple sclerosis" ] ] [ fhir:code [ fhir:v "477742" ] ; fhir:display [ fhir:v "Nodular fasciitis" ] ] [ fhir:code [ fhir:v "477749" ] ; fhir:display [ fhir:v "Pontine autosomal dominant microangiopathy with leukoencephalopathy" ] ] [ fhir:code [ fhir:v "477774" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 27" ] ] [ fhir:code [ fhir:v "477781" ] ; fhir:display [ fhir:v "Primary condylar hyperplasia" ] ] [ fhir:code [ fhir:v "477787" ] ; fhir:display [ fhir:v "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" ] ] [ fhir:code [ fhir:v "477814" ] ; fhir:display [ fhir:v "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "477817" ] ; fhir:display [ fhir:v "PMP22-RAI1 contiguous gene duplication syndrome" ] ] [ fhir:code [ fhir:v "477831" ] ; fhir:display [ fhir:v "Kosaki overgrowth syndrome" ] ] [ fhir:code [ fhir:v "477857" ] ; fhir:display [ fhir:v "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" ] ] [ fhir:code [ fhir:v "477993" ] ; fhir:display [ fhir:v "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "478" ] ; fhir:display [ fhir:v "Kallmann syndrome" ] ] [ fhir:code [ fhir:v "478029" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 29" ] ] [ fhir:code [ fhir:v "478042" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 30" ] ] [ fhir:code [ fhir:v "478049" ] ; fhir:display [ fhir:v "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "478664" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 8" ] ] [ fhir:code [ fhir:v "48" ] ; fhir:display [ fhir:v "Congenital bilateral absence of vas deferens" ] ] [ fhir:code [ fhir:v "480" ] ; fhir:display [ fhir:v "Kearns-Sayre syndrome" ] ] [ fhir:code [ fhir:v "480476" ] ; fhir:display [ fhir:v "Progressive familial intrahepatic cholestasis type 5" ] ] [ fhir:code [ fhir:v "480483" ] ; fhir:display [ fhir:v "Progressive familial intrahepatic cholestasis type 4" ] ] [ fhir:code [ fhir:v "480491" ] ; fhir:display [ fhir:v "MYO5B-related progressive familial intrahepatic cholestasis" ] ] [ fhir:code [ fhir:v "480501" ] ; fhir:display [ fhir:v "Choledochal cyst" ] ] [ fhir:code [ fhir:v "480506" ] ; fhir:display [ fhir:v "Primary intrahepatic lithiasis" ] ] [ fhir:code [ fhir:v "480512" ] ; fhir:display [ fhir:v "Idiopathic ductopenia" ] ] [ fhir:code [ fhir:v "480520" ] ; fhir:display [ fhir:v "Caroli syndrome" ] ] [ fhir:code [ fhir:v "480524" ] ; fhir:display [ fhir:v "Idiopathic peliosis hepatis" ] ] [ fhir:code [ fhir:v "480528" ] ; fhir:display [ fhir:v "Lethal hydranencephaly-diaphragmatic hernia syndrome" ] ] [ fhir:code [ fhir:v "480531" ] ; fhir:display [ fhir:v "Congenital portosystemic shunt" ] ] [ fhir:code [ fhir:v "480536" ] ; fhir:display [ fhir:v "MSH3-related attenuated familial adenomatous polyposis" ] ] [ fhir:code [ fhir:v "480541" ] ; fhir:display [ fhir:v "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement" ] ] [ fhir:code [ fhir:v "480553" ] ; fhir:display [ fhir:v "Aneurysmal bone cyst" ] ] [ fhir:code [ fhir:v "480556" ] ; fhir:display [ fhir:v "Isolated neonatal sclerosing cholangitis" ] ] [ fhir:code [ fhir:v "480682" ] ; fhir:display [ fhir:v "POGLUT1-related limb-girdle muscular dystrophy R21" ] ] [ fhir:code [ fhir:v "480701" ] ; fhir:display [ fhir:v "Facial diplegia with paresthesias" ] ] [ fhir:code [ fhir:v "480851" ] ; fhir:display [ fhir:v "Hereditary thrombocytopenia with early-onset myelofibrosis" ] ] [ fhir:code [ fhir:v "480864" ] ; fhir:display [ fhir:v "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "480880" ] ; fhir:display [ fhir:v "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" ] ] [ fhir:code [ fhir:v "480898" ] ; fhir:display [ fhir:v "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" ] ] [ fhir:code [ fhir:v "480907" ] ; fhir:display [ fhir:v "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome" ] ] [ fhir:code [ fhir:v "481" ] ; fhir:display [ fhir:v "Kennedy disease" ] ] [ fhir:code [ fhir:v "48104" ] ; fhir:display [ fhir:v "Pyoderma gangrenosum" ] ] [ fhir:code [ fhir:v "481152" ] ; fhir:display [ fhir:v "PYCR2-related microcephaly-progressive leukoencephalopathy" ] ] [ fhir:code [ fhir:v "48162" ] ; fhir:display [ fhir:v "Lewis-Sumner syndrome" ] ] [ fhir:code [ fhir:v "481662" ] ; fhir:display [ fhir:v "Familial Chilblain lupus" ] ] [ fhir:code [ fhir:v "481665" ] ; fhir:display [ fhir:v "USP18 deficiency" ] ] [ fhir:code [ fhir:v "481986" ] ; fhir:display [ fhir:v "Familial schizencephaly" ] ] [ fhir:code [ fhir:v "482" ] ; fhir:display [ fhir:v "Kimura disease" ] ] [ fhir:code [ fhir:v "482077" ] ; fhir:display [ fhir:v "HTRA1-related autosomal dominant cerebral small vessel disease" ] ] [ fhir:code [ fhir:v "482601" ] ; fhir:display [ fhir:v "Adenylosuccinate synthetase-like 1-related distal myopathy" ] ] [ fhir:code [ fhir:v "482606" ] ; fhir:display [ fhir:v "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome" ] ] [ fhir:code [ fhir:v "483" ] ; fhir:display [ fhir:v "Congenital high-molecular-weight kininogen deficiency" ] ] [ fhir:code [ fhir:v "48372" ] ; fhir:display [ fhir:v "Nodular regenerative hyperplasia of the liver" ] ] [ fhir:code [ fhir:v "48377" ] ; fhir:display [ fhir:v "Subcorneal pustular dermatosis" ] ] [ fhir:code [ fhir:v "48431" ] ; fhir:display [ fhir:v "Congenital cataracts-facial dysmorphism-neuropathy syndrome" ] ] [ fhir:code [ fhir:v "48435" ] ; fhir:display [ fhir:v "Postinfectious vasculitis" ] ] [ fhir:code [ fhir:v "485" ] ; fhir:display [ fhir:v "Kniest dysplasia" ] ] [ fhir:code [ fhir:v "485275" ] ; fhir:display [ fhir:v "Acquired schizencephaly" ] ] [ fhir:code [ fhir:v "485350" ] ; fhir:display [ fhir:v "CLCN4-related X-linked intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "485358" ] ; fhir:display [ fhir:v "Propylthiouracil embryofetopathy" ] ] [ fhir:code [ fhir:v "485405" ] ; fhir:display [ fhir:v "16p12.1p12.3 triplication syndrome" ] ] [ fhir:code [ fhir:v "485418" ] ; fhir:display [ fhir:v "EMILIN-1-related connective tissue disease" ] ] [ fhir:code [ fhir:v "485421" ] ; fhir:display [ fhir:v "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect" ] ] [ fhir:code [ fhir:v "485426" ] ; fhir:display [ fhir:v "Isolated congenital hepatic fibrosis" ] ] [ fhir:code [ fhir:v "486" ] ; fhir:display [ fhir:v "Autosomal dominant severe congenital neutropenia" ] ] [ fhir:code [ fhir:v "48652" ] ; fhir:display [ fhir:v "Monosomy 22q13.3" ] ] [ fhir:code [ fhir:v "486811" ] ; fhir:display [ fhir:v "Prenatal-onset spinal muscular atrophy with congenital bone fractures" ] ] [ fhir:code [ fhir:v "486815" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome" ] ] [ fhir:code [ fhir:v "48686" ] ; fhir:display [ fhir:v "Primary effusion lymphoma" ] ] [ fhir:code [ fhir:v "487" ] ; fhir:display [ fhir:v "Krabbe disease" ] ] [ fhir:code [ fhir:v "48736" ] ; fhir:display [ fhir:v "Embryonal carcinoma of the central nervous system" ] ] [ fhir:code [ fhir:v "487796" ] ; fhir:display [ fhir:v "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome" ] ] [ fhir:code [ fhir:v "487809" ] ; fhir:display [ fhir:v "Pediatric collagenous gastritis" ] ] [ fhir:code [ fhir:v "487814" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation" ] ] [ fhir:code [ fhir:v "487825" ] ; fhir:display [ fhir:v "Pierpont syndrome" ] ] [ fhir:code [ fhir:v "488" ] ; fhir:display [ fhir:v "Urachal cyst" ] ] [ fhir:code [ fhir:v "488168" ] ; fhir:display [ fhir:v "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome" ] ] [ fhir:code [ fhir:v "48818" ] ; fhir:display [ fhir:v "Aceruloplasminemia" ] ] [ fhir:code [ fhir:v "488191" ] ; fhir:display [ fhir:v "Female infertility due to oocyte meiotic arrest" ] ] [ fhir:code [ fhir:v "488197" ] ; fhir:display [ fhir:v "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" ] ] [ fhir:code [ fhir:v "488232" ] ; fhir:display [ fhir:v "Split-foot malformation-mesoaxial polydactyly syndrome" ] ] [ fhir:code [ fhir:v "488239" ] ; fhir:display [ fhir:v "Acute macular neuroretinopathy" ] ] [ fhir:code [ fhir:v "488265" ] ; fhir:display [ fhir:v "Osteofibrous dysplasia" ] ] [ fhir:code [ fhir:v "488280" ] ; fhir:display [ fhir:v "14q32 duplication syndrome" ] ] [ fhir:code [ fhir:v "488333" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2W" ] ] [ fhir:code [ fhir:v "488434" ] ; fhir:display [ fhir:v "Camptodactyly syndrome, Guadalajara type 3" ] ] [ fhir:code [ fhir:v "488437" ] ; fhir:display [ fhir:v "SIX2-related frontonasal dysplasia" ] ] [ fhir:code [ fhir:v "488586" ] ; fhir:display [ fhir:v "Congenital amyoplasia" ] ] [ fhir:code [ fhir:v "488594" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 76" ] ] [ fhir:code [ fhir:v "488613" ] ; fhir:display [ fhir:v "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "488618" ] ; fhir:display [ fhir:v "Transketolase deficiency" ] ] [ fhir:code [ fhir:v "488627" ] ; fhir:display [ fhir:v "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "488632" ] ; fhir:display [ fhir:v "TBCK-related intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "488635" ] ; fhir:display [ fhir:v "Early-onset epilepsy-intellectual disability-brain anomalies syndrome" ] ] [ fhir:code [ fhir:v "488642" ] ; fhir:display [ fhir:v "TELO2-related intellectual disability-neurodevelopmental disorder" ] ] [ fhir:code [ fhir:v "488647" ] ; fhir:display [ fhir:v "DDX41-related hematologic malignancy predisposition syndrome" ] ] [ fhir:code [ fhir:v "488650" ] ; fhir:display [ fhir:v "Distal myopathy, Tateyama type" ] ] [ fhir:code [ fhir:v "48918" ] ; fhir:display [ fhir:v "Focal myositis" ] ] [ fhir:code [ fhir:v "49" ] ; fhir:display [ fhir:v "Penile agenesis" ] ] [ fhir:code [ fhir:v "490" ] ; fhir:display [ fhir:v "Omphalomesenteric cyst" ] ] [ fhir:code [ fhir:v "49041" ] ; fhir:display [ fhir:v "IgG4-related retroperitoneal fibrosis" ] ] [ fhir:code [ fhir:v "49042" ] ; fhir:display [ fhir:v "Dentinogenesis imperfecta" ] ] [ fhir:code [ fhir:v "492" ] ; fhir:display [ fhir:v "Proliferating trichilemmal cyst" ] ] [ fhir:code [ fhir:v "493" ] ; fhir:display [ fhir:v "Familial keratoacanthoma" ] ] [ fhir:code [ fhir:v "493342" ] ; fhir:display [ fhir:v "Vibratory urticaria" ] ] [ fhir:code [ fhir:v "49382" ] ; fhir:display [ fhir:v "Achromatopsia" ] ] [ fhir:code [ fhir:v "494" ] ; fhir:display [ fhir:v "Keratoderma hereditarium mutilans" ] ] [ fhir:code [ fhir:v "494344" ] ; fhir:display [ fhir:v "RERE-related neurodevelopmental syndrome" ] ] [ fhir:code [ fhir:v "494418" ] ; fhir:display [ fhir:v "Vulvar carcinoma" ] ] [ fhir:code [ fhir:v "494421" ] ; fhir:display [ fhir:v "Sacrococcygeal teratoma" ] ] [ fhir:code [ fhir:v "494424" ] ; fhir:display [ fhir:v "Extracranial carotid artery aneurysm" ] ] [ fhir:code [ fhir:v "494428" ] ; fhir:display [ fhir:v "Idiopathic pleuroparenchymal fibroelastosis" ] ] [ fhir:code [ fhir:v "494433" ] ; fhir:display [ fhir:v "MIRAGE syndrome" ] ] [ fhir:code [ fhir:v "494439" ] ; fhir:display [ fhir:v "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "494444" ] ; fhir:display [ fhir:v "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome" ] ] [ fhir:code [ fhir:v "494448" ] ; fhir:display [ fhir:v "Vulvar squamous cell carcinoma" ] ] [ fhir:code [ fhir:v "494451" ] ; fhir:display [ fhir:v "Vulvar basal cell carcinoma" ] ] [ fhir:code [ fhir:v "494454" ] ; fhir:display [ fhir:v "Vulvar adenocarcinoma" ] ] [ fhir:code [ fhir:v "494526" ] ; fhir:display [ fhir:v "Infantile-onset generalized dyskinesia with orofacial involvement" ] ] [ fhir:code [ fhir:v "494541" ] ; fhir:display [ fhir:v "Childhood-onset benign chorea with striatal involvement" ] ] [ fhir:code [ fhir:v "494547" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the hypopharynx" ] ] [ fhir:code [ fhir:v "494550" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the larynx" ] ] [ fhir:code [ fhir:v "495" ] ; fhir:display [ fhir:v "Transgrediens et progrediens palmoplantar keratoderma" ] ] [ fhir:code [ fhir:v "495274" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2T" ] ] [ fhir:code [ fhir:v "49566" ] ; fhir:display [ fhir:v "Acquired purpura fulminans" ] ] [ fhir:code [ fhir:v "495818" ] ; fhir:display [ fhir:v "9q33.3q34.11 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "495844" ] ; fhir:display [ fhir:v "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy" ] ] [ fhir:code [ fhir:v "495875" ] ; fhir:display [ fhir:v "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "495879" ] ; fhir:display [ fhir:v "Congenital agenesis of the scrotum" ] ] [ fhir:code [ fhir:v "495930" ] ; fhir:display [ fhir:v "Familial monosomy 7 syndrome" ] ] [ fhir:code [ fhir:v "496641" ] ; fhir:display [ fhir:v "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome" ] ] [ fhir:code [ fhir:v "496686" ] ; fhir:display [ fhir:v "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome" ] ] [ fhir:code [ fhir:v "496689" ] ; fhir:display [ fhir:v "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome" ] ] [ fhir:code [ fhir:v "496693" ] ; fhir:display [ fhir:v "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome" ] ] [ fhir:code [ fhir:v "496751" ] ; fhir:display [ fhir:v "EVEN-plus syndrome" ] ] [ fhir:code [ fhir:v "496756" ] ; fhir:display [ fhir:v "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome" ] ] [ fhir:code [ fhir:v "496790" ] ; fhir:display [ fhir:v "Ocular anomalies-axonal neuropathy-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "497188" ] ; fhir:display [ fhir:v "Diffuse intrinsic pontine glioma" ] ] [ fhir:code [ fhir:v "497737" ] ; fhir:display [ fhir:v "Epidermolytic nevus" ] ] [ fhir:code [ fhir:v "497757" ] ; fhir:display [ fhir:v "MME-related autosomal dominant Charcot Marie Tooth disease type 2" ] ] [ fhir:code [ fhir:v "497764" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 43" ] ] [ fhir:code [ fhir:v "497906" ] ; fhir:display [ fhir:v "Childhood-onset basal ganglia degeneration syndrome" ] ] [ fhir:code [ fhir:v "49804" ] ; fhir:display [ fhir:v "Lichen amyloidosis" ] ] [ fhir:code [ fhir:v "498228" ] ; fhir:display [ fhir:v "Phyllodes tumor of the prostate" ] ] [ fhir:code [ fhir:v "498251" ] ; fhir:display [ fhir:v "Menstrual cycle-dependent periodic fever" ] ] [ fhir:code [ fhir:v "49827" ] ; fhir:display [ fhir:v "Thiamine-responsive megaloblastic anemia syndrome" ] ] [ fhir:code [ fhir:v "498359" ] ; fhir:display [ fhir:v "Aquagenic palmoplantar keratoderma" ] ] [ fhir:code [ fhir:v "498474" ] ; fhir:display [ fhir:v "Hyaline fibromatosis syndrome" ] ] [ fhir:code [ fhir:v "498481" ] ; fhir:display [ fhir:v "LRP5-related primary osteoporosis" ] ] [ fhir:code [ fhir:v "498485" ] ; fhir:display [ fhir:v "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome" ] ] [ fhir:code [ fhir:v "498488" ] ; fhir:display [ fhir:v "Overgrowth syndrome with 2q37 translocation" ] ] [ fhir:code [ fhir:v "498494" ] ; fhir:display [ fhir:v "Mirror-image polydactyly" ] ] [ fhir:code [ fhir:v "498497" ] ; fhir:display [ fhir:v "Short rib-polydactyly syndrome type 5" ] ] [ fhir:code [ fhir:v "498602" ] ; fhir:display [ fhir:v "Sugarman brachydactyly" ] ] [ fhir:code [ fhir:v "498693" ] ; fhir:display [ fhir:v "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome" ] ] [ fhir:code [ fhir:v "499" ] ; fhir:display [ fhir:v "Kerion celsi" ] ] [ fhir:code [ fhir:v "499009" ] ; fhir:display [ fhir:v "Congenital syphilis" ] ] [ fhir:code [ fhir:v "499085" ] ; fhir:display [ fhir:v "Chronic relapsing inflammatory optic neuropathy" ] ] [ fhir:code [ fhir:v "499096" ] ; fhir:display [ fhir:v "Isolated optic neuritis" ] ] [ fhir:code [ fhir:v "499103" ] ; fhir:display [ fhir:v "Recurrent idiopathic neuroretinitis" ] ] [ fhir:code [ fhir:v "499107" ] ; fhir:display [ fhir:v "Idiopathic optic perineuritis" ] ] [ fhir:code [ fhir:v "499182" ] ; fhir:display [ fhir:v "Pilomatrix carcinoma" ] ] [ fhir:code [ fhir:v "5" ] ; fhir:display [ fhir:v "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "50" ] ; fhir:display [ fhir:v "Aicardi syndrome" ] ] [ fhir:code [ fhir:v "500" ] ; fhir:display [ fhir:v "Noonan syndrome with multiple lentigines" ] ] [ fhir:code [ fhir:v "500055" ] ; fhir:display [ fhir:v "Hao-Fountain syndrome due to 16p13.2 microdeletion" ] ] [ fhir:code [ fhir:v "500062" ] ; fhir:display [ fhir:v "Infantile-onset periodic fever-panniculitis-dermatosis syndrome" ] ] [ fhir:code [ fhir:v "500095" ] ; fhir:display [ fhir:v "Tall stature-intellectual disability-renal anomalies syndrome" ] ] [ fhir:code [ fhir:v "500135" ] ; fhir:display [ fhir:v "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" ] ] [ fhir:code [ fhir:v "500144" ] ; fhir:display [ fhir:v "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" ] ] [ fhir:code [ fhir:v "500150" ] ; fhir:display [ fhir:v "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "500159" ] ; fhir:display [ fhir:v "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" ] ] [ fhir:code [ fhir:v "500163" ] ; fhir:display [ fhir:v "Witteveen-Kolk syndrome" ] ] [ fhir:code [ fhir:v "500166" ] ; fhir:display [ fhir:v "SIN3A-related intellectual disability syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "500180" ] ; fhir:display [ fhir:v "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" ] ] [ fhir:code [ fhir:v "500188" ] ; fhir:display [ fhir:v "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "500464" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the nasal cavity and paranasal sinuses" ] ] [ fhir:code [ fhir:v "500478" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the oropharynx" ] ] [ fhir:code [ fhir:v "500481" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of salivary glands" ] ] [ fhir:code [ fhir:v "500533" ] ; fhir:display [ fhir:v "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" ] ] [ fhir:code [ fhir:v "500545" ] ; fhir:display [ fhir:v "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" ] ] [ fhir:code [ fhir:v "500548" ] ; fhir:display [ fhir:v "Osteosclerotic metaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "501" ] ; fhir:display [ fhir:v "Lafora disease" ] ] [ fhir:code [ fhir:v "502" ] ; fhir:display [ fhir:v "Trichorhinophalangeal syndrome type 2" ] ] [ fhir:code [ fhir:v "502305" ] ; fhir:display [ fhir:v "Cochleovestibular malformation" ] ] [ fhir:code [ fhir:v "502318" ] ; fhir:display [ fhir:v "Cochlear nerve deficiency" ] ] [ fhir:code [ fhir:v "502363" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the oral cavity" ] ] [ fhir:code [ fhir:v "502366" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the lip" ] ] [ fhir:code [ fhir:v "502423" ] ; fhir:display [ fhir:v "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" ] ] [ fhir:code [ fhir:v "502430" ] ; fhir:display [ fhir:v "Metopic ridging-ptosis-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "502434" ] ; fhir:display [ fhir:v "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" ] ] [ fhir:code [ fhir:v "502437" ] ; fhir:display [ fhir:v "4q25 proximal deletion syndrome" ] ] [ fhir:code [ fhir:v "502444" ] ; fhir:display [ fhir:v "Alkaline ceramidase 3 deficiency" ] ] [ fhir:code [ fhir:v "502499" ] ; fhir:display [ fhir:v "Erythema multiforme major" ] ] [ fhir:code [ fhir:v "50251" ] ; fhir:display [ fhir:v "Pleural mesothelioma" ] ] [ fhir:code [ fhir:v "503" ] ; fhir:display [ fhir:v "Larsen syndrome" ] ] [ fhir:code [ fhir:v "504" ] ; fhir:display [ fhir:v "Creeping myiasis" ] ] [ fhir:code [ fhir:v "504476" ] ; fhir:display [ fhir:v "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" ] ] [ fhir:code [ fhir:v "504523" ] ; fhir:display [ fhir:v "Severe combined immunodeficiency due to LAT deficiency" ] ] [ fhir:code [ fhir:v "504530" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to Moesin deficiency" ] ] [ fhir:code [ fhir:v "505" ] ; fhir:display [ fhir:v "Graham Little-Piccardi-Lassueur syndrome" ] ] [ fhir:code [ fhir:v "505208" ] ; fhir:display [ fhir:v "3-methylglutaconic aciduria type 8" ] ] [ fhir:code [ fhir:v "505216" ] ; fhir:display [ fhir:v "3-methylglutaconic aciduria type 9" ] ] [ fhir:code [ fhir:v "505227" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to GINS1 deficiency" ] ] [ fhir:code [ fhir:v "505237" ] ; fhir:display [ fhir:v "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome" ] ] [ fhir:code [ fhir:v "505242" ] ; fhir:display [ fhir:v "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" ] ] [ fhir:code [ fhir:v "505248" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders" ] ] [ fhir:code [ fhir:v "505395" ] ; fhir:display [ fhir:v "Ventilator-induced diaphragmatic dysfunction" ] ] [ fhir:code [ fhir:v "505652" ] ; fhir:display [ fhir:v "CDKL5-deficiency disorder" ] ] [ fhir:code [ fhir:v "506" ] ; fhir:display [ fhir:v "Leigh syndrome" ] ] [ fhir:code [ fhir:v "506075" ] ; fhir:display [ fhir:v "Non-functioning neuroendocrine tumor of pancreas" ] ] [ fhir:code [ fhir:v "506090" ] ; fhir:display [ fhir:v "Serotonin-producing neuroendocrine tumor of pancreas" ] ] [ fhir:code [ fhir:v "506098" ] ; fhir:display [ fhir:v "Neuroendocrine carcinoma of pancreas" ] ] [ fhir:code [ fhir:v "506112" ] ; fhir:display [ fhir:v "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas" ] ] [ fhir:code [ fhir:v "506136" ] ; fhir:display [ fhir:v "Neuroendocrine neoplasm of esophagus" ] ] [ fhir:code [ fhir:v "506307" ] ; fhir:display [ fhir:v "Stromme syndrome" ] ] [ fhir:code [ fhir:v "506334" ] ; fhir:display [ fhir:v "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency" ] ] [ fhir:code [ fhir:v "506353" ] ; fhir:display [ fhir:v "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction" ] ] [ fhir:code [ fhir:v "506358" ] ; fhir:display [ fhir:v "Gabriele-de Vries syndrome" ] ] [ fhir:code [ fhir:v "506784" ] ; fhir:display [ fhir:v "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome" ] ] [ fhir:code [ fhir:v "507" ] ; fhir:display [ fhir:v "Leishmaniasis" ] ] [ fhir:code [ fhir:v "508" ] ; fhir:display [ fhir:v "Leprechaunism" ] ] [ fhir:code [ fhir:v "50809" ] ; fhir:display [ fhir:v "Talo-patello-scaphoid osteolysis" ] ] [ fhir:code [ fhir:v "508093" ] ; fhir:display [ fhir:v "MEPAN syndrome" ] ] [ fhir:code [ fhir:v "50810" ] ; fhir:display [ fhir:v "Microlissencephaly-micromelia syndrome" ] ] [ fhir:code [ fhir:v "50811" ] ; fhir:display [ fhir:v "Lipodystrophy-intellectual disability-deafness syndrome" ] ] [ fhir:code [ fhir:v "50812" ] ; fhir:display [ fhir:v "Zellweger-like syndrome without peroxisomal anomalies" ] ] [ fhir:code [ fhir:v "50814" ] ; fhir:display [ fhir:v "Craniolenticulosutural dysplasia" ] ] [ fhir:code [ fhir:v "50815" ] ; fhir:display [ fhir:v "Branchiogenic deafness syndrome" ] ] [ fhir:code [ fhir:v "50817" ] ; fhir:display [ fhir:v "Duane anomaly-myopathy-scoliosis syndrome" ] ] [ fhir:code [ fhir:v "50839" ] ; fhir:display [ fhir:v "Cat-scratch disease" ] ] [ fhir:code [ fhir:v "508410" ] ; fhir:display [ fhir:v "Familial intestinal malrotation" ] ] [ fhir:code [ fhir:v "508476" ] ; fhir:display [ fhir:v "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome" ] ] [ fhir:code [ fhir:v "508488" ] ; fhir:display [ fhir:v "8q24.3 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "508498" ] ; fhir:display [ fhir:v "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome" ] ] [ fhir:code [ fhir:v "508501" ] ; fhir:display [ fhir:v "Oral-facial-digital syndrome with short stature and brachymesophalangy" ] ] [ fhir:code [ fhir:v "508512" ] ; fhir:display [ fhir:v "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome" ] ] [ fhir:code [ fhir:v "508523" ] ; fhir:display [ fhir:v "Hyperphenylalaninemia due to DNAJC12 deficiency" ] ] [ fhir:code [ fhir:v "508529" ] ; fhir:display [ fhir:v "Intermediate epidermolysis bullosa simplex with cardiomyopathy" ] ] [ fhir:code [ fhir:v "508533" ] ; fhir:display [ fhir:v "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "508542" ] ; fhir:display [ fhir:v "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "509" ] ; fhir:display [ fhir:v "Leptospirosis" ] ] [ fhir:code [ fhir:v "50918" ] ; fhir:display [ fhir:v "Kikuchi-Fujimoto disease" ] ] [ fhir:code [ fhir:v "50942" ] ; fhir:display [ fhir:v "Striate palmoplantar keratoderma" ] ] [ fhir:code [ fhir:v "50943" ] ; fhir:display [ fhir:v "Keratolytic winter erythema" ] ] [ fhir:code [ fhir:v "50944" ] ; fhir:display [ fhir:v "Schöpf-Schulz-Passarge syndrome" ] ] [ fhir:code [ fhir:v "50945" ] ; fhir:display [ fhir:v "Blomstrand lethal chondrodysplasia" ] ] [ fhir:code [ fhir:v "51" ] ; fhir:display [ fhir:v "Aicardi-Goutières syndrome" ] ] [ fhir:code [ fhir:v "510" ] ; fhir:display [ fhir:v "Lesch-Nyhan syndrome" ] ] [ fhir:code [ fhir:v "51083" ] ; fhir:display [ fhir:v "Familial short QT syndrome" ] ] [ fhir:code [ fhir:v "51084" ] ; fhir:display [ fhir:v "Torsade-de-pointes syndrome with short coupling interval" ] ] [ fhir:code [ fhir:v "511" ] ; fhir:display [ fhir:v "Maple syrup urine disease" ] ] [ fhir:code [ fhir:v "51188" ] ; fhir:display [ fhir:v "Ethylmalonic encephalopathy" ] ] [ fhir:code [ fhir:v "512" ] ; fhir:display [ fhir:v "Metachromatic leukodystrophy" ] ] [ fhir:code [ fhir:v "512017" ] ; fhir:display [ fhir:v "Chronic lymphoproliferative disorder of natural killer cells" ] ] [ fhir:code [ fhir:v "51208" ] ; fhir:display [ fhir:v "Formiminoglutamic aciduria" ] ] [ fhir:code [ fhir:v "512103" ] ; fhir:display [ fhir:v "Autosomal recessive epidermolytic ichthyosis" ] ] [ fhir:code [ fhir:v "512260" ] ; fhir:display [ fhir:v "Congenital cerebellar ataxia due to RNU12 mutation" ] ] [ fhir:code [ fhir:v "513436" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 78" ] ] [ fhir:code [ fhir:v "513456" ] ; fhir:display [ fhir:v "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "514" ] ; fhir:display [ fhir:v "Acute monoblastic/monocytic leukemia" ] ] [ fhir:code [ fhir:v "514352" ] ; fhir:display [ fhir:v "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome" ] ] [ fhir:code [ fhir:v "51608" ] ; fhir:display [ fhir:v "Generalized arterial calcification of infancy" ] ] [ fhir:code [ fhir:v "51636" ] ; fhir:display [ fhir:v "WHIM syndrome" ] ] [ fhir:code [ fhir:v "517" ] ; fhir:display [ fhir:v "Acute myelomonocytic leukemia" ] ] [ fhir:code [ fhir:v "518" ] ; fhir:display [ fhir:v "Acute megakaryoblastic leukemia" ] ] [ fhir:code [ fhir:v "51890" ] ; fhir:display [ fhir:v "Anterior cutaneous nerve entrapment syndrome" ] ] [ fhir:code [ fhir:v "519384" ] ; fhir:display [ fhir:v "Congenital cystic eye" ] ] [ fhir:code [ fhir:v "519386" ] ; fhir:display [ fhir:v "Isolated congenital entropion" ] ] [ fhir:code [ fhir:v "519388" ] ; fhir:display [ fhir:v "Autosomal recessive anterior segment dysgenesis" ] ] [ fhir:code [ fhir:v "519390" ] ; fhir:display [ fhir:v "Isolated blepharochalasis" ] ] [ fhir:code [ fhir:v "519392" ] ; fhir:display [ fhir:v "Isolated iridoschisis" ] ] [ fhir:code [ fhir:v "519396" ] ; fhir:display [ fhir:v "Isolated microspherophakia" ] ] [ fhir:code [ fhir:v "519398" ] ; fhir:display [ fhir:v "Isolated foveal hypoplasia" ] ] [ fhir:code [ fhir:v "519400" ] ; fhir:display [ fhir:v "Peripapillary staphyloma" ] ] [ fhir:code [ fhir:v "519402" ] ; fhir:display [ fhir:v "Isolated megalopapilla" ] ] [ fhir:code [ fhir:v "519404" ] ; fhir:display [ fhir:v "Optic disc pit" ] ] [ fhir:code [ fhir:v "519406" ] ; fhir:display [ fhir:v "Thygeson superficial punctate keratitis" ] ] [ fhir:code [ fhir:v "519408" ] ; fhir:display [ fhir:v "Mooren ulcer" ] ] [ fhir:code [ fhir:v "519410" ] ; fhir:display [ fhir:v "Terrien marginal degeneration" ] ] [ fhir:code [ fhir:v "519930" ] ; fhir:display [ fhir:v "Fungal keratitis" ] ] [ fhir:code [ fhir:v "52" ] ; fhir:display [ fhir:v "Alagille syndrome" ] ] [ fhir:code [ fhir:v "520" ] ; fhir:display [ fhir:v "Acute promyelocytic leukemia" ] ] [ fhir:code [ fhir:v "52022" ] ; fhir:display [ fhir:v "Potocki-Shaffer syndrome" ] ] [ fhir:code [ fhir:v "52047" ] ; fhir:display [ fhir:v "Braddock syndrome" ] ] [ fhir:code [ fhir:v "52054" ] ; fhir:display [ fhir:v "Craniosynostosis-intracranial calcifications syndrome" ] ] [ fhir:code [ fhir:v "52055" ] ; fhir:display [ fhir:v "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome" ] ] [ fhir:code [ fhir:v "52056" ] ; fhir:display [ fhir:v "Ulnar/fibula ray defect-brachydactyly syndrome" ] ] [ fhir:code [ fhir:v "521" ] ; fhir:display [ fhir:v "Chronic myeloid leukemia" ] ] [ fhir:code [ fhir:v "521123" ] ; fhir:display [ fhir:v "Radiation-induced plexopathy" ] ] [ fhir:code [ fhir:v "521127" ] ; fhir:display [ fhir:v "Osteoradionecrosis of the mandible" ] ] [ fhir:code [ fhir:v "521219" ] ; fhir:display [ fhir:v "Mirizzi syndrome" ] ] [ fhir:code [ fhir:v "521258" ] ; fhir:display [ fhir:v "Xq25 microduplication syndrome" ] ] [ fhir:code [ fhir:v "521305" ] ; fhir:display [ fhir:v "Proximal myopathy with focal depletion of mitochondria" ] ] [ fhir:code [ fhir:v "521308" ] ; fhir:display [ fhir:v "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome" ] ] [ fhir:code [ fhir:v "521390" ] ; fhir:display [ fhir:v "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome" ] ] [ fhir:code [ fhir:v "521406" ] ; fhir:display [ fhir:v "Dystonia-parkinsonism-hypermanganesemia syndrome" ] ] [ fhir:code [ fhir:v "521411" ] ; fhir:display [ fhir:v "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect" ] ] [ fhir:code [ fhir:v "521414" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2DD" ] ] [ fhir:code [ fhir:v "521426" ] ; fhir:display [ fhir:v "PLAA-associated neurodevelopmental disorder" ] ] [ fhir:code [ fhir:v "521432" ] ; fhir:display [ fhir:v "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome" ] ] [ fhir:code [ fhir:v "521438" ] ; fhir:display [ fhir:v "Congenital vertebral-cardiac-renal anomalies syndrome" ] ] [ fhir:code [ fhir:v "521445" ] ; fhir:display [ fhir:v "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome" ] ] [ fhir:code [ fhir:v "521450" ] ; fhir:display [ fhir:v "LAMA5-related multisystemic syndrome" ] ] [ fhir:code [ fhir:v "522037" ] ; fhir:display [ fhir:v "Primary autoimmune enteropathy" ] ] [ fhir:code [ fhir:v "522077" ] ; fhir:display [ fhir:v "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "523" ] ; fhir:display [ fhir:v "Hereditary leiomyomatosis and renal cell cancer" ] ] [ fhir:code [ fhir:v "52368" ] ; fhir:display [ fhir:v "Mohr-Tranebjaerg syndrome" ] ] [ fhir:code [ fhir:v "524" ] ; fhir:display [ fhir:v "Li-Fraumeni syndrome" ] ] [ fhir:code [ fhir:v "52416" ] ; fhir:display [ fhir:v "Mantle cell lymphoma" ] ] [ fhir:code [ fhir:v "52417" ] ; fhir:display [ fhir:v "MALT lymphoma" ] ] [ fhir:code [ fhir:v "52427" ] ; fhir:display [ fhir:v "Retinitis punctata albescens" ] ] [ fhir:code [ fhir:v "52429" ] ; fhir:display [ fhir:v "Branchiootic syndrome" ] ] [ fhir:code [ fhir:v "52430" ] ; fhir:display [ fhir:v "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia" ] ] [ fhir:code [ fhir:v "525" ] ; fhir:display [ fhir:v "Lichen planopilaris" ] ] [ fhir:code [ fhir:v "52503" ] ; fhir:display [ fhir:v "X-linked creatine transporter deficiency" ] ] [ fhir:code [ fhir:v "52530" ] ; fhir:display [ fhir:v "Pseudo-von Willebrand disease" ] ] [ fhir:code [ fhir:v "525731" ] ; fhir:display [ fhir:v "Pediatric-onset Graves disease" ] ] [ fhir:code [ fhir:v "525738" ] ; fhir:display [ fhir:v "Prepubertal anorexia nervosa" ] ] [ fhir:code [ fhir:v "526" ] ; fhir:display [ fhir:v "Liddle syndrome" ] ] [ fhir:code [ fhir:v "527276" ] ; fhir:display [ fhir:v "Encephalopathy due to mitochondrial and peroxisomal fission defect" ] ] [ fhir:code [ fhir:v "527450" ] ; fhir:display [ fhir:v "Severe myopia-generalized joint laxity-short stature syndrome" ] ] [ fhir:code [ fhir:v "527468" ] ; fhir:display [ fhir:v "Diaphragmatic hernia-short bowel-asplenia syndrome" ] ] [ fhir:code [ fhir:v "527497" ] ; fhir:display [ fhir:v "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy" ] ] [ fhir:code [ fhir:v "528" ] ; fhir:display [ fhir:v "Congenital generalized lipodystrophy" ] ] [ fhir:code [ fhir:v "528084" ] ; fhir:display [ fhir:v "Non-specific syndromic intellectual disability" ] ] [ fhir:code [ fhir:v "528091" ] ; fhir:display [ fhir:v "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome" ] ] [ fhir:code [ fhir:v "528105" ] ; fhir:display [ fhir:v "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" ] ] [ fhir:code [ fhir:v "528623" ] ; fhir:display [ fhir:v "Hereditary angioedema with C1Inh deficiency" ] ] [ fhir:code [ fhir:v "528647" ] ; fhir:display [ fhir:v "Hereditary angioedema with normal C1Inh" ] ] [ fhir:code [ fhir:v "528663" ] ; fhir:display [ fhir:v "Acquired angioedema with C1Inh deficiency" ] ] [ fhir:code [ fhir:v "529" ] ; fhir:display [ fhir:v "Roch-Leri mesosomatous lipomatosis" ] ] [ fhir:code [ fhir:v "52901" ] ; fhir:display [ fhir:v "Isolated follicle stimulating hormone deficiency" ] ] [ fhir:code [ fhir:v "529468" ] ; fhir:display [ fhir:v "Monoclonal mast cell activation syndrome" ] ] [ fhir:code [ fhir:v "529574" ] ; fhir:display [ fhir:v "Duane retraction syndrome with congenital deafness" ] ] [ fhir:code [ fhir:v "529665" ] ; fhir:display [ fhir:v "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome" ] ] [ fhir:code [ fhir:v "529799" ] ; fhir:display [ fhir:v "Acute bilirubin encephalopathy" ] ] [ fhir:code [ fhir:v "529808" ] ; fhir:display [ fhir:v "Chronic bilirubin encephalopathy" ] ] [ fhir:code [ fhir:v "529831" ] ; fhir:display [ fhir:v "Letrozole toxicity" ] ] [ fhir:code [ fhir:v "529852" ] ; fhir:display [ fhir:v "Combined hepatocellular carcinoma and cholangiocarcinoma" ] ] [ fhir:code [ fhir:v "529864" ] ; fhir:display [ fhir:v "Secondary erythromelalgia" ] ] [ fhir:code [ fhir:v "52994" ] ; fhir:display [ fhir:v "Orbital leiomyoma" ] ] [ fhir:code [ fhir:v "529962" ] ; fhir:display [ fhir:v "17q24.2 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "529965" ] ; fhir:display [ fhir:v "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "529970" ] ; fhir:display [ fhir:v "Male infertility due to acephalic spermatozoa" ] ] [ fhir:code [ fhir:v "529977" ] ; fhir:display [ fhir:v "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" ] ] [ fhir:code [ fhir:v "529980" ] ; fhir:display [ fhir:v "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome" ] ] [ fhir:code [ fhir:v "53" ] ; fhir:display [ fhir:v "Albers-Schönberg osteopetrosis" ] ] [ fhir:code [ fhir:v "530" ] ; fhir:display [ fhir:v "Lipoid proteinosis" ] ] [ fhir:code [ fhir:v "530033" ] ; fhir:display [ fhir:v "Dermoid or epidermoid cyst of the central nervous system" ] ] [ fhir:code [ fhir:v "530298" ] ; fhir:display [ fhir:v "Progressive myoclonic epilepsy with neuroserpin inclusion bodies" ] ] [ fhir:code [ fhir:v "530303" ] ; fhir:display [ fhir:v "Progressive dementia with neuroserpin inclusion bodies" ] ] [ fhir:code [ fhir:v "53035" ] ; fhir:display [ fhir:v "Caroli disease" ] ] [ fhir:code [ fhir:v "530792" ] ; fhir:display [ fhir:v "RELA fusion-positive ependymoma" ] ] [ fhir:code [ fhir:v "530838" ] ; fhir:display [ fhir:v "KRT1-related diffuse nonepidermolytic keratoderma" ] ] [ fhir:code [ fhir:v "530849" ] ; fhir:display [ fhir:v "Familial apolipoprotein A5 deficiency" ] ] [ fhir:code [ fhir:v "530983" ] ; fhir:display [ fhir:v "Lamb-Shaffer syndrome" ] ] [ fhir:code [ fhir:v "530995" ] ; fhir:display [ fhir:v "Mixed phenotype acute leukemia" ] ] [ fhir:code [ fhir:v "531" ] ; fhir:display [ fhir:v "Miller-Dieker syndrome" ] ] [ fhir:code [ fhir:v "531151" ] ; fhir:display [ fhir:v "9q21.13 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "53271" ] ; fhir:display [ fhir:v "Muenke syndrome" ] ] [ fhir:code [ fhir:v "53296" ] ; fhir:display [ fhir:v "Familial cutaneous collagenoma" ] ] [ fhir:code [ fhir:v "533" ] ; fhir:display [ fhir:v "Listeriosis" ] ] [ fhir:code [ fhir:v "53347" ] ; fhir:display [ fhir:v "Brody myopathy" ] ] [ fhir:code [ fhir:v "53351" ] ; fhir:display [ fhir:v "X-linked dystonia-parkinsonism" ] ] [ fhir:code [ fhir:v "53372" ] ; fhir:display [ fhir:v "Hereditary geniospasm" ] ] [ fhir:code [ fhir:v "534" ] ; fhir:display [ fhir:v "Oculocerebrorenal syndrome of Lowe" ] ] [ fhir:code [ fhir:v "53540" ] ; fhir:display [ fhir:v "Goldmann-Favre syndrome" ] ] [ fhir:code [ fhir:v "535453" ] ; fhir:display [ fhir:v "Familial lipase maturation factor 1 deficiency" ] ] [ fhir:code [ fhir:v "535458" ] ; fhir:display [ fhir:v "Familial GPIHBP1 deficiency" ] ] [ fhir:code [ fhir:v "53583" ] ; fhir:display [ fhir:v "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" ] ] [ fhir:code [ fhir:v "536" ] ; fhir:display [ fhir:v "Systemic lupus erythematosus" ] ] [ fhir:code [ fhir:v "536467" ] ; fhir:display [ fhir:v "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "536471" ] ; fhir:display [ fhir:v "Spondylodysplastic Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "536516" ] ; fhir:display [ fhir:v "Myopathic Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "536532" ] ; fhir:display [ fhir:v "Classical-like Ehlers-Danlos syndrome type 2" ] ] [ fhir:code [ fhir:v "536545" ] ; fhir:display [ fhir:v "Kyphoscoliotic Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "53689" ] ; fhir:display [ fhir:v "Congenital chloride diarrhea" ] ] [ fhir:code [ fhir:v "53690" ] ; fhir:display [ fhir:v "Congenital lactase deficiency" ] ] [ fhir:code [ fhir:v "53691" ] ; fhir:display [ fhir:v "Congenital cornea plana" ] ] [ fhir:code [ fhir:v "53693" ] ; fhir:display [ fhir:v "GRACILE syndrome" ] ] [ fhir:code [ fhir:v "53696" ] ; fhir:display [ fhir:v "Arthrogryposis-anterior horn cell disease syndrome" ] ] [ fhir:code [ fhir:v "53697" ] ; fhir:display [ fhir:v "Gnathodiaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "53698" ] ; fhir:display [ fhir:v "Myosin storage myopathy" ] ] [ fhir:code [ fhir:v "537" ] ; fhir:display [ fhir:v "Toxic epidermal necrolysis" ] ] [ fhir:code [ fhir:v "537072" ] ; fhir:display [ fhir:v "PLG-related hereditary angioedema with normal C1Inh" ] ] [ fhir:code [ fhir:v "53715" ] ; fhir:display [ fhir:v "Familial tumoral calcinosis" ] ] [ fhir:code [ fhir:v "53719" ] ; fhir:display [ fhir:v "Wyburn-Mason syndrome" ] ] [ fhir:code [ fhir:v "53721" ] ; fhir:display [ fhir:v "Spinal arteriovenous metameric syndrome" ] ] [ fhir:code [ fhir:v "538" ] ; fhir:display [ fhir:v "Lymphangioleiomyomatosis" ] ] [ fhir:code [ fhir:v "538096" ] ; fhir:display [ fhir:v "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy" ] ] [ fhir:code [ fhir:v "538101" ] ; fhir:display [ fhir:v "Congenital axonal neuropathy with encephalopathy" ] ] [ fhir:code [ fhir:v "538574" ] ; fhir:display [ fhir:v "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome" ] ] [ fhir:code [ fhir:v "538756" ] ; fhir:display [ fhir:v "Familial multiple discoid fibromas" ] ] [ fhir:code [ fhir:v "538863" ] ; fhir:display [ fhir:v "Classic pyoderma gangrenosum" ] ] [ fhir:code [ fhir:v "538866" ] ; fhir:display [ fhir:v "Pustular pyoderma gangrenosum" ] ] [ fhir:code [ fhir:v "538869" ] ; fhir:display [ fhir:v "Bullous pyoderma gangrenosum" ] ] [ fhir:code [ fhir:v "538872" ] ; fhir:display [ fhir:v "Vegetative pyoderma gangrenosum" ] ] [ fhir:code [ fhir:v "538931" ] ; fhir:display [ fhir:v "X-linked lymphoproliferative disease due to SH2D1A deficiency" ] ] [ fhir:code [ fhir:v "538934" ] ; fhir:display [ fhir:v "X-linked lymphoproliferative disease due to XIAP deficiency" ] ] [ fhir:code [ fhir:v "538958" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to CD70 deficiency" ] ] [ fhir:code [ fhir:v "538963" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to ITK deficiency" ] ] [ fhir:code [ fhir:v "54" ] ; fhir:display [ fhir:v "X-linked recessive ocular albinism" ] ] [ fhir:code [ fhir:v "540" ] ; fhir:display [ fhir:v "Familial hemophagocytic lymphohistiocytosis" ] ] [ fhir:code [ fhir:v "54028" ] ; fhir:display [ fhir:v "Plummer-Vinson syndrome" ] ] [ fhir:code [ fhir:v "54057" ] ; fhir:display [ fhir:v "Thrombotic thrombocytopenic purpura" ] ] [ fhir:code [ fhir:v "541423" ] ; fhir:display [ fhir:v "Growth delay-intellectual disability-hepatopathy syndrome" ] ] [ fhir:code [ fhir:v "541443" ] ; fhir:display [ fhir:v "Anomalous aortic origin of the left coronary artery" ] ] [ fhir:code [ fhir:v "541454" ] ; fhir:display [ fhir:v "Anomalous aortic origin of the right coronary artery" ] ] [ fhir:code [ fhir:v "541507" ] ; fhir:display [ fhir:v "Anomalous origin of coronary artery from the pulmonary artery" ] ] [ fhir:code [ fhir:v "542301" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to CARMIL2 deficiency" ] ] [ fhir:code [ fhir:v "542306" ] ; fhir:display [ fhir:v "GNB5-related intellectual disability-cardiac arrhythmia syndrome" ] ] [ fhir:code [ fhir:v "542310" ] ; fhir:display [ fhir:v "Leukoencephalopathy with calcifications and cysts" ] ] [ fhir:code [ fhir:v "542323" ] ; fhir:display [ fhir:v "CAR T cell therapy-associated cytokine release syndrome" ] ] [ fhir:code [ fhir:v "54247" ] ; fhir:display [ fhir:v "Posterior cortical atrophy" ] ] [ fhir:code [ fhir:v "54251" ] ; fhir:display [ fhir:v "Corticosteroid-sensitive aseptic abscess syndrome" ] ] [ fhir:code [ fhir:v "542568" ] ; fhir:display [ fhir:v "Quadricuspid aortic valve" ] ] [ fhir:code [ fhir:v "542585" ] ; fhir:display [ fhir:v "Auditory neuropathy-optic atrophy syndrome" ] ] [ fhir:code [ fhir:v "542592" ] ; fhir:display [ fhir:v "Necrobiosis lipoidica" ] ] [ fhir:code [ fhir:v "54260" ] ; fhir:display [ fhir:v "Left ventricular noncompaction" ] ] [ fhir:code [ fhir:v "542643" ] ; fhir:display [ fhir:v "Livedoid vasculopathy" ] ] [ fhir:code [ fhir:v "542657" ] ; fhir:display [ fhir:v "Isolated hyperchlorhidrosis" ] ] [ fhir:code [ fhir:v "54272" ] ; fhir:display [ fhir:v "Hepatocellular adenoma" ] ] [ fhir:code [ fhir:v "543" ] ; fhir:display [ fhir:v "Burkitt lymphoma" ] ] [ fhir:code [ fhir:v "543470" ] ; fhir:display [ fhir:v "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" ] ] [ fhir:code [ fhir:v "54368" ] ; fhir:display [ fhir:v "Sarcocystosis" ] ] [ fhir:code [ fhir:v "54370" ] ; fhir:display [ fhir:v "Primary membranoproliferative glomerulonephritis" ] ] [ fhir:code [ fhir:v "544254" ] ; fhir:display [ fhir:v "SYNGAP1-related developmental and epileptic encephalopathy" ] ] [ fhir:code [ fhir:v "544469" ] ; fhir:display [ fhir:v "PRUNE1-related neurological syndrome" ] ] [ fhir:code [ fhir:v "544472" ] ; fhir:display [ fhir:v "Atypical hemolytic uremic syndrome with complement gene abnormality" ] ] [ fhir:code [ fhir:v "544482" ] ; fhir:display [ fhir:v "Infection-related hemolytic uremic syndrome" ] ] [ fhir:code [ fhir:v "544488" ] ; fhir:display [ fhir:v "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" ] ] [ fhir:code [ fhir:v "544493" ] ; fhir:display [ fhir:v "Streptococcus pneumoniae-associated hemolytic uremic syndrome" ] ] [ fhir:code [ fhir:v "544503" ] ; fhir:display [ fhir:v "RNF13-related severe early-onset epileptic encephalopathy" ] ] [ fhir:code [ fhir:v "544578" ] ; fhir:display [ fhir:v "Congenital primary megaureter, refluxing and obstructed form" ] ] [ fhir:code [ fhir:v "544602" ] ; fhir:display [ fhir:v "Congenital myopathy with reduced type 2 muscle fibers" ] ] [ fhir:code [ fhir:v "544628" ] ; fhir:display [ fhir:v "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome" ] ] [ fhir:code [ fhir:v "545" ] ; fhir:display [ fhir:v "Follicular lymphoma" ] ] [ fhir:code [ fhir:v "54595" ] ; fhir:display [ fhir:v "Craniopharyngioma" ] ] [ fhir:code [ fhir:v "548" ] ; fhir:display [ fhir:v "Leprosy" ] ] [ fhir:code [ fhir:v "549" ] ; fhir:display [ fhir:v "Legionnaires disease" ] ] [ fhir:code [ fhir:v "550" ] ; fhir:display [ fhir:v "MELAS" ] ] [ fhir:code [ fhir:v "551" ] ; fhir:display [ fhir:v "MERRF" ] ] [ fhir:code [ fhir:v "552" ] ; fhir:display [ fhir:v "MODY" ] ] [ fhir:code [ fhir:v "555402" ] ; fhir:display [ fhir:v "NAD(P)HX dehydratase deficiency" ] ] [ fhir:code [ fhir:v "555407" ] ; fhir:display [ fhir:v "NAD(P)HX epimerase deficiency" ] ] [ fhir:code [ fhir:v "555434" ] ; fhir:display [ fhir:v "Fibrohistiocytic inflammatory pseudotumor of the liver" ] ] [ fhir:code [ fhir:v "555437" ] ; fhir:display [ fhir:v "Lymphoplasmacytic inflammatory pseudotumor of the liver" ] ] [ fhir:code [ fhir:v "555874" ] ; fhir:display [ fhir:v "Congenital tricuspid valve dysplasia" ] ] [ fhir:code [ fhir:v "555877" ] ; fhir:display [ fhir:v "FLNA-related X-linked myxomatous valvular dysplasia" ] ] [ fhir:code [ fhir:v "555905" ] ; fhir:display [ fhir:v "IgA pemphigus" ] ] [ fhir:code [ fhir:v "55595" ] ; fhir:display [ fhir:v "TNP03-related limb-girdle muscular dystrophy D2" ] ] [ fhir:code [ fhir:v "55596" ] ; fhir:display [ fhir:v "HNRNPDL-related limb-girdle muscular dystrophy D3" ] ] [ fhir:code [ fhir:v "556" ] ; fhir:display [ fhir:v "Malakoplakia" ] ] [ fhir:code [ fhir:v "556030" ] ; fhir:display [ fhir:v "Early-onset familial hypoaldosteronism" ] ] [ fhir:code [ fhir:v "556037" ] ; fhir:display [ fhir:v "Late-onset familial hypoaldosteronism" ] ] [ fhir:code [ fhir:v "55654" ] ; fhir:display [ fhir:v "Hypotrichosis simplex" ] ] [ fhir:code [ fhir:v "55655" ] ; fhir:display [ fhir:v "Pneumococcal meningitis" ] ] [ fhir:code [ fhir:v "556955" ] ; fhir:display [ fhir:v "Pancreatic agenesis-holoprosencephaly syndrome" ] ] [ fhir:code [ fhir:v "556985" ] ; fhir:display [ fhir:v "Early-onset calcifying leukoencephalopathy-skeletal dysplasia" ] ] [ fhir:code [ fhir:v "557003" ] ; fhir:display [ fhir:v "Oculoskeletodental syndrome" ] ] [ fhir:code [ fhir:v "557056" ] ; fhir:display [ fhir:v "Spastic ataxia-dysarthria due to glutaminase deficiency" ] ] [ fhir:code [ fhir:v "557064" ] ; fhir:display [ fhir:v "Neonatal epileptic encephalopathy due to glutaminase deficiency" ] ] [ fhir:code [ fhir:v "558" ] ; fhir:display [ fhir:v "Marfan syndrome" ] ] [ fhir:code [ fhir:v "558411" ] ; fhir:display [ fhir:v "Idiopathic gastroparesis" ] ] [ fhir:code [ fhir:v "55880" ] ; fhir:display [ fhir:v "Chondrosarcoma" ] ] [ fhir:code [ fhir:v "55881" ] ; fhir:display [ fhir:v "Adamantinoma" ] ] [ fhir:code [ fhir:v "559" ] ; fhir:display [ fhir:v "Marinesco-Sjögren syndrome" ] ] [ fhir:code [ fhir:v "56" ] ; fhir:display [ fhir:v "Alkaptonuria" ] ] [ fhir:code [ fhir:v "560" ] ; fhir:display [ fhir:v "Marshall syndrome" ] ] [ fhir:code [ fhir:v "561" ] ; fhir:display [ fhir:v "Marshall-Smith syndrome" ] ] [ fhir:code [ fhir:v "561854" ] ; fhir:display [ fhir:v "FOXG1 syndrome" ] ] [ fhir:code [ fhir:v "562" ] ; fhir:display [ fhir:v "McCune-Albright syndrome" ] ] [ fhir:code [ fhir:v "562509" ] ; fhir:display [ fhir:v "Heme oxygenase-1 deficiency" ] ] [ fhir:code [ fhir:v "562528" ] ; fhir:display [ fhir:v "Congenital limbs-face contractures-hypotonia-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "562538" ] ; fhir:display [ fhir:v "Autosomal recessive extra-oral halitosis" ] ] [ fhir:code [ fhir:v "562559" ] ; fhir:display [ fhir:v "Anterior maxillary protrusion-strabismus-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "562569" ] ; fhir:display [ fhir:v "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "562639" ] ; fhir:display [ fhir:v "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome" ] ] [ fhir:code [ fhir:v "563" ] ; fhir:display [ fhir:v "Peripartum cardiomyopathy" ] ] [ fhir:code [ fhir:v "56304" ] ; fhir:display [ fhir:v "Atelosteogenesis type II" ] ] [ fhir:code [ fhir:v "56305" ] ; fhir:display [ fhir:v "Atelosteogenesis type III" ] ] [ fhir:code [ fhir:v "563576" ] ; fhir:display [ fhir:v "Autoimmune hepatitis type 1" ] ] [ fhir:code [ fhir:v "563581" ] ; fhir:display [ fhir:v "Autoimmune hepatitis type 2" ] ] [ fhir:code [ fhir:v "563589" ] ; fhir:display [ fhir:v "Seronegative autoimmune hepatitis" ] ] [ fhir:code [ fhir:v "563609" ] ; fhir:display [ fhir:v "Isolated anencephaly" ] ] [ fhir:code [ fhir:v "563612" ] ; fhir:display [ fhir:v "Isolated exencephaly" ] ] [ fhir:code [ fhir:v "563666" ] ; fhir:display [ fhir:v "Serous cystadenoma of childhood" ] ] [ fhir:code [ fhir:v "563671" ] ; fhir:display [ fhir:v "Mucinous cystadenoma of childhood" ] ] [ fhir:code [ fhir:v "563676" ] ; fhir:display [ fhir:v "Seromucinous cystadenoma of childhood" ] ] [ fhir:code [ fhir:v "563684" ] ; fhir:display [ fhir:v "Furuncular myiasis due to Dermatobia hominis" ] ] [ fhir:code [ fhir:v "563687" ] ; fhir:display [ fhir:v "Furuncular myiasis due to Cordylobia anthropophaga" ] ] [ fhir:code [ fhir:v "563690" ] ; fhir:display [ fhir:v "Furuncular myiasis due to Cordylobia rodhaini" ] ] [ fhir:code [ fhir:v "563708" ] ; fhir:display [ fhir:v "Syndromic congenital sodium diarrhea" ] ] [ fhir:code [ fhir:v "563951" ] ; fhir:display [ fhir:v "Isolated congenital aglossia" ] ] [ fhir:code [ fhir:v "563954" ] ; fhir:display [ fhir:v "Isolated congenital hypoglossia" ] ] [ fhir:code [ fhir:v "563991" ] ; fhir:display [ fhir:v "Osteochondrosis of the tarsal bone" ] ] [ fhir:code [ fhir:v "564" ] ; fhir:display [ fhir:v "Meckel syndrome" ] ] [ fhir:code [ fhir:v "564003" ] ; fhir:display [ fhir:v "Osteochondrosis of the metatarsal bone" ] ] [ fhir:code [ fhir:v "564178" ] ; fhir:display [ fhir:v "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "56425" ] ; fhir:display [ fhir:v "Cold agglutinin disease" ] ] [ fhir:code [ fhir:v "565" ] ; fhir:display [ fhir:v "Menkes disease" ] ] [ fhir:code [ fhir:v "565612" ] ; fhir:display [ fhir:v "Primary triglyceride deposit cardiomyovasculopathy" ] ] [ fhir:code [ fhir:v "565624" ] ; fhir:display [ fhir:v "Combined oxidative phosphorylation defect type 39" ] ] [ fhir:code [ fhir:v "565641" ] ; fhir:display [ fhir:v "Primary desmosis coli" ] ] [ fhir:code [ fhir:v "565782" ] ; fhir:display [ fhir:v "Methotrexate toxicity" ] ] [ fhir:code [ fhir:v "565788" ] ; fhir:display [ fhir:v "Infantile inflammatory bowel disease with neurological involvement" ] ] [ fhir:code [ fhir:v "565837" ] ; fhir:display [ fhir:v "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" ] ] [ fhir:code [ fhir:v "565858" ] ; fhir:display [ fhir:v "Craniosynostosis-microretrognathia-severe intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "565899" ] ; fhir:display [ fhir:v "POMGNT2-related limb-girdle muscular dystrophy R24" ] ] [ fhir:code [ fhir:v "565909" ] ; fhir:display [ fhir:v "Calpain-3-related limb-girdle muscular dystrophy D4" ] ] [ fhir:code [ fhir:v "566" ] ; fhir:display [ fhir:v "Congenital microcoria" ] ] [ fhir:code [ fhir:v "566067" ] ; fhir:display [ fhir:v "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome" ] ] [ fhir:code [ fhir:v "566175" ] ; fhir:display [ fhir:v "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome" ] ] [ fhir:code [ fhir:v "566192" ] ; fhir:display [ fhir:v "Congenital autosomal recessive small-platelet thrombocytopenia" ] ] [ fhir:code [ fhir:v "566231" ] ; fhir:display [ fhir:v "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha" ] ] [ fhir:code [ fhir:v "566243" ] ; fhir:display [ fhir:v "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta" ] ] [ fhir:code [ fhir:v "566393" ] ; fhir:display [ fhir:v "Acute mast cell leukemia" ] ] [ fhir:code [ fhir:v "566396" ] ; fhir:display [ fhir:v "Chronic mast cell leukemia" ] ] [ fhir:code [ fhir:v "566841" ] ; fhir:display [ fhir:v "Liver adenomatosis" ] ] [ fhir:code [ fhir:v "566847" ] ; fhir:display [ fhir:v "Aprosencephaly/atelencephaly spectrum" ] ] [ fhir:code [ fhir:v "566852" ] ; fhir:display [ fhir:v "Atelencephaly" ] ] [ fhir:code [ fhir:v "566857" ] ; fhir:display [ fhir:v "Aprosencephaly" ] ] [ fhir:code [ fhir:v "566862" ] ; fhir:display [ fhir:v "Left sided atrial isomerism" ] ] [ fhir:code [ fhir:v "566943" ] ; fhir:display [ fhir:v "Mueller-Weiss syndrome" ] ] [ fhir:code [ fhir:v "567" ] ; fhir:display [ fhir:v "22q11.2 deletion syndrome" ] ] [ fhir:code [ fhir:v "567502" ] ; fhir:display [ fhir:v "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome" ] ] [ fhir:code [ fhir:v "567544" ] ; fhir:display [ fhir:v "Idiopathic non-lupus full-house nephropathy" ] ] [ fhir:code [ fhir:v "567546" ] ; fhir:display [ fhir:v "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance" ] ] [ fhir:code [ fhir:v "567548" ] ; fhir:display [ fhir:v "Idiopathic steroid-resistant nephrotic syndrome" ] ] [ fhir:code [ fhir:v "567550" ] ; fhir:display [ fhir:v "Idiopathic multidrug-resistant nephrotic syndrome" ] ] [ fhir:code [ fhir:v "567552" ] ; fhir:display [ fhir:v "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy" ] ] [ fhir:code [ fhir:v "567983" ] ; fhir:display [ fhir:v "Parenteral nutrition-associated cholestasis" ] ] [ fhir:code [ fhir:v "568" ] ; fhir:display [ fhir:v "Microphthalmia, Lenz type" ] ] [ fhir:code [ fhir:v "568051" ] ; fhir:display [ fhir:v "GJC2-related late-onset primary lymphedema" ] ] [ fhir:code [ fhir:v "568056" ] ; fhir:display [ fhir:v "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome" ] ] [ fhir:code [ fhir:v "568062" ] ; fhir:display [ fhir:v "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis" ] ] [ fhir:code [ fhir:v "568065" ] ; fhir:display [ fhir:v "EPHB4-related lymphatic-related hydrops fetalis" ] ] [ fhir:code [ fhir:v "569" ] ; fhir:display [ fhir:v "Familial or sporadic hemiplegic migraine" ] ] [ fhir:code [ fhir:v "569164" ] ; fhir:display [ fhir:v "Angiomatoid fibrous histiocytoma" ] ] [ fhir:code [ fhir:v "569248" ] ; fhir:display [ fhir:v "Microcystic stromal tumor" ] ] [ fhir:code [ fhir:v "569274" ] ; fhir:display [ fhir:v "Multiple mitochondrial dysfunctions syndrome type 5" ] ] [ fhir:code [ fhir:v "569290" ] ; fhir:display [ fhir:v "Multiple mitochondrial dysfunctions syndrome type 6" ] ] [ fhir:code [ fhir:v "569816" ] ; fhir:display [ fhir:v "CELSR1-related late-onset primary lymphedema" ] ] [ fhir:code [ fhir:v "569821" ] ; fhir:display [ fhir:v "Congenital primary lymphedema of Gordon" ] ] [ fhir:code [ fhir:v "57" ] ; fhir:display [ fhir:v "Glycogen storage disease due to aldolase A deficiency" ] ] [ fhir:code [ fhir:v "570" ] ; fhir:display [ fhir:v "Moebius syndrome" ] ] [ fhir:code [ fhir:v "570371" ] ; fhir:display [ fhir:v "Bartter syndrome type 5" ] ] [ fhir:code [ fhir:v "570422" ] ; fhir:display [ fhir:v "Galactose mutarotase deficiency" ] ] [ fhir:code [ fhir:v "570431" ] ; fhir:display [ fhir:v "Idiopathic multicentric Castleman disease" ] ] [ fhir:code [ fhir:v "570438" ] ; fhir:display [ fhir:v "HHV-8-associated multicentric Castleman disease" ] ] [ fhir:code [ fhir:v "570470" ] ; fhir:display [ fhir:v "Ricin poisoning" ] ] [ fhir:code [ fhir:v "570491" ] ; fhir:display [ fhir:v "QRSL1-related combined oxidative phosphorylation defect" ] ] [ fhir:code [ fhir:v "570762" ] ; fhir:display [ fhir:v "Infective endocarditis" ] ] [ fhir:code [ fhir:v "57145" ] ; fhir:display [ fhir:v "SUNCT syndrome" ] ] [ fhir:code [ fhir:v "57196" ] ; fhir:display [ fhir:v "Medial condensing osteitis of the clavicle" ] ] [ fhir:code [ fhir:v "572" ] ; fhir:display [ fhir:v "Immunodeficiency by defective expression of MHC class II" ] ] [ fhir:code [ fhir:v "572013" ] ; fhir:display [ fhir:v "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" ] ] [ fhir:code [ fhir:v "572333" ] ; fhir:display [ fhir:v "Blepharophimosis-ptosis-epicanthus inversus syndrome plus" ] ] [ fhir:code [ fhir:v "572354" ] ; fhir:display [ fhir:v "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1" ] ] [ fhir:code [ fhir:v "572361" ] ; fhir:display [ fhir:v "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2" ] ] [ fhir:code [ fhir:v "572385" ] ; fhir:display [ fhir:v "Brachydactyly type B1" ] ] [ fhir:code [ fhir:v "572428" ] ; fhir:display [ fhir:v "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia" ] ] [ fhir:code [ fhir:v "572543" ] ; fhir:display [ fhir:v "RFVT2-related riboflavin transporter deficiency" ] ] [ fhir:code [ fhir:v "572550" ] ; fhir:display [ fhir:v "RFVT3-related riboflavin transporter deficiency" ] ] [ fhir:code [ fhir:v "572761" ] ; fhir:display [ fhir:v "DONSON-related microcephaly-short stature-limb abnormalities spectrum" ] ] [ fhir:code [ fhir:v "572768" ] ; fhir:display [ fhir:v "Microcephaly-micromelia syndrome" ] ] [ fhir:code [ fhir:v "572773" ] ; fhir:display [ fhir:v "Microcephaly-short stature-limb abnormalities syndrome" ] ] [ fhir:code [ fhir:v "572798" ] ; fhir:display [ fhir:v "WARS2-related combined oxidative phosphorylation defect" ] ] [ fhir:code [ fhir:v "573" ] ; fhir:display [ fhir:v "Monilethrix" ] ] [ fhir:code [ fhir:v "573253" ] ; fhir:display [ fhir:v "Split cord malformation type II" ] ] [ fhir:code [ fhir:v "574" ] ; fhir:display [ fhir:v "21q deletion syndrome" ] ] [ fhir:code [ fhir:v "574918" ] ; fhir:display [ fhir:v "Predisposition to severe viral infection due to IRF7 deficiency" ] ] [ fhir:code [ fhir:v "574957" ] ; fhir:display [ fhir:v "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency" ] ] [ fhir:code [ fhir:v "575" ] ; fhir:display [ fhir:v "Muckle-Wells syndrome" ] ] [ fhir:code [ fhir:v "575553" ] ; fhir:display [ fhir:v "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy" ] ] [ fhir:code [ fhir:v "576" ] ; fhir:display [ fhir:v "Mucolipidosis type II" ] ] [ fhir:code [ fhir:v "576074" ] ; fhir:display [ fhir:v "Middle East respiratory syndrome" ] ] [ fhir:code [ fhir:v "576227" ] ; fhir:display [ fhir:v "Complete atrioventricular septal defect without ventricular hypoplasia" ] ] [ fhir:code [ fhir:v "576232" ] ; fhir:display [ fhir:v "Partial atrioventricular septal defect with ventricular hypoplasia" ] ] [ fhir:code [ fhir:v "576235" ] ; fhir:display [ fhir:v "Partial atrioventricular septal defect without ventricular hypoplasia" ] ] [ fhir:code [ fhir:v "576242" ] ; fhir:display [ fhir:v "Intermediate atrioventricular septal defect" ] ] [ fhir:code [ fhir:v "576278" ] ; fhir:display [ fhir:v "SATB2-associated syndrome" ] ] [ fhir:code [ fhir:v "576283" ] ; fhir:display [ fhir:v "SATB2-associated syndrome due to a pathogenic variant" ] ] [ fhir:code [ fhir:v "576349" ] ; fhir:display [ fhir:v "NLRC4-related familial cold autoinflammatory syndrome" ] ] [ fhir:code [ fhir:v "576370" ] ; fhir:display [ fhir:v "Variant Creutzfeldt-Jakob disease" ] ] [ fhir:code [ fhir:v "576379" ] ; fhir:display [ fhir:v "Iatrogenic Creutzfeldt-Jakob disease" ] ] [ fhir:code [ fhir:v "577" ] ; fhir:display [ fhir:v "Mucolipidosis type III" ] ] [ fhir:code [ fhir:v "57777" ] ; fhir:display [ fhir:v "Cirrhotic cardiomyopathy" ] ] [ fhir:code [ fhir:v "57782" ] ; fhir:display [ fhir:v "Mazabraud syndrome" ] ] [ fhir:code [ fhir:v "578" ] ; fhir:display [ fhir:v "Mucolipidosis type IV" ] ] [ fhir:code [ fhir:v "579" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 1" ] ] [ fhir:code [ fhir:v "58" ] ; fhir:display [ fhir:v "Alexander disease" ] ] [ fhir:code [ fhir:v "580" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 2" ] ] [ fhir:code [ fhir:v "58017" ] ; fhir:display [ fhir:v "Classic hairy cell leukemia" ] ] [ fhir:code [ fhir:v "58040" ] ; fhir:display [ fhir:v "Osteoblastoma" ] ] [ fhir:code [ fhir:v "580572" ] ; fhir:display [ fhir:v "Intraductal tubulopapillary neoplasm of pancreas" ] ] [ fhir:code [ fhir:v "580933" ] ; fhir:display [ fhir:v "Lethal brain and heart developmental defects" ] ] [ fhir:code [ fhir:v "580940" ] ; fhir:display [ fhir:v "QRICH1-related intellectual disability-chondrodysplasia syndrome" ] ] [ fhir:code [ fhir:v "580951" ] ; fhir:display [ fhir:v "Punctate inner choroidopathy" ] ] [ fhir:code [ fhir:v "581" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 3" ] ] [ fhir:code [ fhir:v "581271" ] ; fhir:display [ fhir:v "Cramp-fasciculation syndrome" ] ] [ fhir:code [ fhir:v "582" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 4" ] ] [ fhir:code [ fhir:v "583" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 6" ] ] [ fhir:code [ fhir:v "583097" ] ; fhir:display [ fhir:v "Congenital infiltrating lipomatosis of the face" ] ] [ fhir:code [ fhir:v "583595" ] ; fhir:display [ fhir:v "Serine biosynthesis pathway deficiency, infantile/juvenile form" ] ] [ fhir:code [ fhir:v "583602" ] ; fhir:display [ fhir:v "Neu-laxova syndrome due to phosphoserine aminotransferase deficiency" ] ] [ fhir:code [ fhir:v "583607" ] ; fhir:display [ fhir:v "Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "583612" ] ; fhir:display [ fhir:v "Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency" ] ] [ fhir:code [ fhir:v "583856" ] ; fhir:display [ fhir:v "Isolated splenic vein thrombosis" ] ] [ fhir:code [ fhir:v "583861" ] ; fhir:display [ fhir:v "Isolated mesenteric vein thrombosis" ] ] [ fhir:code [ fhir:v "584" ] ; fhir:display [ fhir:v "Mucopolysaccharidosis type 7" ] ] [ fhir:code [ fhir:v "585" ] ; fhir:display [ fhir:v "Multiple sulfatase deficiency" ] ] [ fhir:code [ fhir:v "585867" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with t(9;22)(q34.1;q11.2)" ] ] [ fhir:code [ fhir:v "585877" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality" ] ] [ fhir:code [ fhir:v "585909" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)" ] ] [ fhir:code [ fhir:v "585918" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)" ] ] [ fhir:code [ fhir:v "585929" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)" ] ] [ fhir:code [ fhir:v "585936" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with hyperdiploidy" ] ] [ fhir:code [ fhir:v "585942" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with hypodiploidy" ] ] [ fhir:code [ fhir:v "585948" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)" ] ] [ fhir:code [ fhir:v "585956" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)" ] ] [ fhir:code [ fhir:v "586" ] ; fhir:display [ fhir:v "Cystic fibrosis" ] ] [ fhir:code [ fhir:v "586130" ] ; fhir:display [ fhir:v "Sporadic fatal insomnia" ] ] [ fhir:code [ fhir:v "587" ] ; fhir:display [ fhir:v "Muir-Torre syndrome" ] ] [ fhir:code [ fhir:v "588" ] ; fhir:display [ fhir:v "Muscle-eye-brain disease" ] ] [ fhir:code [ fhir:v "589" ] ; fhir:display [ fhir:v "Myasthenia gravis" ] ] [ fhir:code [ fhir:v "589435" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia-corneal dystrophy syndrome" ] ] [ fhir:code [ fhir:v "589442" ] ; fhir:display [ fhir:v "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" ] ] [ fhir:code [ fhir:v "589515" ] ; fhir:display [ fhir:v "PUM1-associated developmental disability-ataxia-seizure syndrome" ] ] [ fhir:code [ fhir:v "589522" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 46" ] ] [ fhir:code [ fhir:v "589527" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 45" ] ] [ fhir:code [ fhir:v "589534" ] ; fhir:display [ fhir:v "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)" ] ] [ fhir:code [ fhir:v "589542" ] ; fhir:display [ fhir:v "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement" ] ] [ fhir:code [ fhir:v "589547" ] ; fhir:display [ fhir:v "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder" ] ] [ fhir:code [ fhir:v "589595" ] ; fhir:display [ fhir:v "Mixed phenotype acute leukemia with t(v;11q23.3)" ] ] [ fhir:code [ fhir:v "589608" ] ; fhir:display [ fhir:v "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies" ] ] [ fhir:code [ fhir:v "589618" ] ; fhir:display [ fhir:v "Dystonia 28" ] ] [ fhir:code [ fhir:v "589821" ] ; fhir:display [ fhir:v "Congenital-onset Steinert myotonic dystrophy" ] ] [ fhir:code [ fhir:v "589824" ] ; fhir:display [ fhir:v "Childhood-onset Steinert myotonic dystrophy" ] ] [ fhir:code [ fhir:v "589827" ] ; fhir:display [ fhir:v "Juvenile-onset Steinert myotonic dystrophy" ] ] [ fhir:code [ fhir:v "589830" ] ; fhir:display [ fhir:v "Adult-onset Steinert myotonic dystrophy" ] ] [ fhir:code [ fhir:v "589833" ] ; fhir:display [ fhir:v "Late-onset Steinert myotonic dystrophy" ] ] [ fhir:code [ fhir:v "589856" ] ; fhir:display [ fhir:v "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome" ] ] [ fhir:code [ fhir:v "589905" ] ; fhir:display [ fhir:v "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" ] ] [ fhir:code [ fhir:v "59" ] ; fhir:display [ fhir:v "Allan-Herndon-Dudley syndrome" ] ] [ fhir:code [ fhir:v "590" ] ; fhir:display [ fhir:v "Congenital myasthenic syndrome" ] ] [ fhir:code [ fhir:v "590539" ] ; fhir:display [ fhir:v "Isolated melanotic schwannoma" ] ] [ fhir:code [ fhir:v "591" ] ; fhir:display [ fhir:v "Furuncular myiasis" ] ] [ fhir:code [ fhir:v "59135" ] ; fhir:display [ fhir:v "Laing early-onset distal myopathy" ] ] [ fhir:code [ fhir:v "59181" ] ; fhir:display [ fhir:v "Sorsby pseudoinflammatory fundus dystrophy" ] ] [ fhir:code [ fhir:v "592" ] ; fhir:display [ fhir:v "Macrophagic myofasciitis" ] ] [ fhir:code [ fhir:v "592564" ] ; fhir:display [ fhir:v "GNAO1-related developmental delay-seizures-movement disorder spectrum" ] ] [ fhir:code [ fhir:v "592570" ] ; fhir:display [ fhir:v "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome" ] ] [ fhir:code [ fhir:v "592574" ] ; fhir:display [ fhir:v "Menke-Hennekam syndrome" ] ] [ fhir:code [ fhir:v "592850" ] ; fhir:display [ fhir:v "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies" ] ] [ fhir:code [ fhir:v "592856" ] ; fhir:display [ fhir:v "Neuromyelitis optica spectrum disorder with anti-MOG antibodies" ] ] [ fhir:code [ fhir:v "592869" ] ; fhir:display [ fhir:v "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies" ] ] [ fhir:code [ fhir:v "592873" ] ; fhir:display [ fhir:v "Acute transverse myelitis with anti-MOG antibodies" ] ] [ fhir:code [ fhir:v "592885" ] ; fhir:display [ fhir:v "Isolated optic neuritis without anti-MOG antibodies" ] ] [ fhir:code [ fhir:v "592888" ] ; fhir:display [ fhir:v "Isolated optic neuritis with anti-MOG antibodies" ] ] [ fhir:code [ fhir:v "592894" ] ; fhir:display [ fhir:v "Acute disseminated encephalomyelitis with anti-MOG antibodies" ] ] [ fhir:code [ fhir:v "592900" ] ; fhir:display [ fhir:v "Acute disseminated encephalomyelitis without anti-MOG antibodies" ] ] [ fhir:code [ fhir:v "59298" ] ; fhir:display [ fhir:v "Schilder disease" ] ] [ fhir:code [ fhir:v "59303" ] ; fhir:display [ fhir:v "Neonatal ichthyosis-sclerosing cholangitis syndrome" ] ] [ fhir:code [ fhir:v "59306" ] ; fhir:display [ fhir:v "McLeod neuroacanthocytosis syndrome" ] ] [ fhir:code [ fhir:v "59315" ] ; fhir:display [ fhir:v "Rhombencephalosynapsis" ] ] [ fhir:code [ fhir:v "595098" ] ; fhir:display [ fhir:v "Timothy syndrome type 1" ] ] [ fhir:code [ fhir:v "595105" ] ; fhir:display [ fhir:v "Timothy syndrome type 2" ] ] [ fhir:code [ fhir:v "595109" ] ; fhir:display [ fhir:v "Atypical Timothy syndrome" ] ] [ fhir:code [ fhir:v "595133" ] ; fhir:display [ fhir:v "Perivascular epithelioid cell neoplasm" ] ] [ fhir:code [ fhir:v "595356" ] ; fhir:display [ fhir:v "Localized dystrophic epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "596" ] ; fhir:display [ fhir:v "X-linked centronuclear myopathy" ] ] [ fhir:code [ fhir:v "596008" ] ; fhir:display [ fhir:v "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis" ] ] [ fhir:code [ fhir:v "596448" ] ; fhir:display [ fhir:v "IgG4-related systemic disease" ] ] [ fhir:code [ fhir:v "596753" ] ; fhir:display [ fhir:v "VEXAS syndrome" ] ] [ fhir:code [ fhir:v "596759" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to RELA haploinsufficiency" ] ] [ fhir:code [ fhir:v "596937" ] ; fhir:display [ fhir:v "Portosinusoidal vascular disease" ] ] [ fhir:code [ fhir:v "596941" ] ; fhir:display [ fhir:v "Incomplete septal cirrhosis" ] ] [ fhir:code [ fhir:v "597" ] ; fhir:display [ fhir:v "Central core disease" ] ] [ fhir:code [ fhir:v "597201" ] ; fhir:display [ fhir:v "TRIM22-related inflammatory bowel disease" ] ] [ fhir:code [ fhir:v "597623" ] ; fhir:display [ fhir:v "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" ] ] [ fhir:code [ fhir:v "597733" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 8" ] ] [ fhir:code [ fhir:v "597738" ] ; fhir:display [ fhir:v "Luscan-Lumish syndrome" ] ] [ fhir:code [ fhir:v "597743" ] ; fhir:display [ fhir:v "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome" ] ] [ fhir:code [ fhir:v "597746" ] ; fhir:display [ fhir:v "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome" ] ] [ fhir:code [ fhir:v "597874" ] ; fhir:display [ fhir:v "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" ] ] [ fhir:code [ fhir:v "597887" ] ; fhir:display [ fhir:v "ALPI-related inflammatory bowel disease" ] ] [ fhir:code [ fhir:v "597939" ] ; fhir:display [ fhir:v "Euthyroid dysprealbuminemic hyperthyroxinemia" ] ] [ fhir:code [ fhir:v "598" ] ; fhir:display [ fhir:v "Multiminicore myopathy" ] ] [ fhir:code [ fhir:v "598164" ] ; fhir:display [ fhir:v "FOXG1 syndrome due to intragenic alteration" ] ] [ fhir:code [ fhir:v "598216" ] ; fhir:display [ fhir:v "Upper tract urothelial carcinoma" ] ] [ fhir:code [ fhir:v "598363" ] ; fhir:display [ fhir:v "Multisystem inflammatory syndrome in children and adults" ] ] [ fhir:code [ fhir:v "598603" ] ; fhir:display [ fhir:v "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome" ] ] [ fhir:code [ fhir:v "599082" ] ; fhir:display [ fhir:v "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "599373" ] ; fhir:display [ fhir:v "STXBP1-related encephalopathy" ] ] [ fhir:code [ fhir:v "599376" ] ; fhir:display [ fhir:v "Hypomyelination of early myelinating structures" ] ] [ fhir:code [ fhir:v "599418" ] ; fhir:display [ fhir:v "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant" ] ] [ fhir:code [ fhir:v "599480" ] ; fhir:display [ fhir:v "Acquired hemophilia A" ] ] [ fhir:code [ fhir:v "599485" ] ; fhir:display [ fhir:v "Acquired hemophilia B" ] ] [ fhir:code [ fhir:v "599490" ] ; fhir:display [ fhir:v "Acquired factor V deficiency" ] ] [ fhir:code [ fhir:v "599495" ] ; fhir:display [ fhir:v "Acquired factor VII deficiency" ] ] [ fhir:code [ fhir:v "599501" ] ; fhir:display [ fhir:v "Acquired factor X deficiency" ] ] [ fhir:code [ fhir:v "599507" ] ; fhir:display [ fhir:v "Acquired factor XI deficiency" ] ] [ fhir:code [ fhir:v "599513" ] ; fhir:display [ fhir:v "Acquired factor XIII deficiency" ] ] [ fhir:code [ fhir:v "599519" ] ; fhir:display [ fhir:v "Factor V short isoforms-related bleeding disorder" ] ] [ fhir:code [ fhir:v "599579" ] ; fhir:display [ fhir:v "Factor V Amsterdam bleeding disorder" ] ] [ fhir:code [ fhir:v "6" ] ; fhir:display [ fhir:v "3-methylcrotonyl-CoA carboxylase deficiency" ] ] [ fhir:code [ fhir:v "60" ] ; fhir:display [ fhir:v "Alpha-1-antitrypsin deficiency" ] ] [ fhir:code [ fhir:v "600" ] ; fhir:display [ fhir:v "Vocal cord and pharyngeal distal myopathy" ] ] [ fhir:code [ fhir:v "60014" ] ; fhir:display [ fhir:v "Argyria" ] ] [ fhir:code [ fhir:v "60015" ] ; fhir:display [ fhir:v "Enlarged parietal foramina" ] ] [ fhir:code [ fhir:v "600194" ] ; fhir:display [ fhir:v "Factor V Atlanta bleeding disorder" ] ] [ fhir:code [ fhir:v "60025" ] ; fhir:display [ fhir:v "Pulmonary alveolar microlithiasis" ] ] [ fhir:code [ fhir:v "60026" ] ; fhir:display [ fhir:v "Pulmonary nodular lymphoid hyperplasia" ] ] [ fhir:code [ fhir:v "60030" ] ; fhir:display [ fhir:v "Loeys-Dietz syndrome" ] ] [ fhir:code [ fhir:v "60032" ] ; fhir:display [ fhir:v "Recurrent respiratory papillomatosis" ] ] [ fhir:code [ fhir:v "60033" ] ; fhir:display [ fhir:v "Idiopathic bronchiectasis" ] ] [ fhir:code [ fhir:v "60039" ] ; fhir:display [ fhir:v "Pudendal neuralgia" ] ] [ fhir:code [ fhir:v "60040" ] ; fhir:display [ fhir:v "Megalencephaly-capillary malformation-polymicrogyria syndrome" ] ] [ fhir:code [ fhir:v "60041" ] ; fhir:display [ fhir:v "Congenital heart block" ] ] [ fhir:code [ fhir:v "600663" ] ; fhir:display [ fhir:v "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance" ] ] [ fhir:code [ fhir:v "600668" ] ; fhir:display [ fhir:v "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "600691" ] ; fhir:display [ fhir:v "Combined deficiency of factor VII and factor X" ] ] [ fhir:code [ fhir:v "600731" ] ; fhir:display [ fhir:v "Clark-Baraitser syndrome" ] ] [ fhir:code [ fhir:v "600952" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with perineal fistula" ] ] [ fhir:code [ fhir:v "600961" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with rectourethral fistula" ] ] [ fhir:code [ fhir:v "600966" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type" ] ] [ fhir:code [ fhir:v "600975" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type" ] ] [ fhir:code [ fhir:v "600984" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with rectovesical fistula" ] ] [ fhir:code [ fhir:v "600993" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with vestibular fistula" ] ] [ fhir:code [ fhir:v "600998" ] ; fhir:display [ fhir:v "Non-syndromic cloacal malformation" ] ] [ fhir:code [ fhir:v "601002" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation without fistula" ] ] [ fhir:code [ fhir:v "601008" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with anal stenosis" ] ] [ fhir:code [ fhir:v "601013" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with pouch colon" ] ] [ fhir:code [ fhir:v "601018" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with rectal atresia" ] ] [ fhir:code [ fhir:v "601023" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with rectal stenosis" ] ] [ fhir:code [ fhir:v "601028" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with rectovaginal fistula" ] ] [ fhir:code [ fhir:v "601033" ] ; fhir:display [ fhir:v "Non-syndromic anorectal malformation with H-type fistula" ] ] [ fhir:code [ fhir:v "602" ] ; fhir:display [ fhir:v "GNE myopathy" ] ] [ fhir:code [ fhir:v "603" ] ; fhir:display [ fhir:v "Distal myopathy, Welander type" ] ] [ fhir:code [ fhir:v "603448" ] ; fhir:display [ fhir:v "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome" ] ] [ fhir:code [ fhir:v "603494" ] ; fhir:display [ fhir:v "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome" ] ] [ fhir:code [ fhir:v "603515" ] ; fhir:display [ fhir:v "Isolated female hypospadias" ] ] [ fhir:code [ fhir:v "603684" ] ; fhir:display [ fhir:v "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome" ] ] [ fhir:code [ fhir:v "603689" ] ; fhir:display [ fhir:v "KLHL7-related Bohring-Opitz-like syndrome" ] ] [ fhir:code [ fhir:v "603694" ] ; fhir:display [ fhir:v "KLHL7-related Crisponi/cold-induced sweating-like syndrome" ] ] [ fhir:code [ fhir:v "604680" ] ; fhir:display [ fhir:v "Symptomatic form of X-linked centronuclear myopathy in female carriers" ] ] [ fhir:code [ fhir:v "606" ] ; fhir:display [ fhir:v "Proximal myotonic myopathy" ] ] [ fhir:code [ fhir:v "609" ] ; fhir:display [ fhir:v "Tibial muscular dystrophy" ] ] [ fhir:code [ fhir:v "61" ] ; fhir:display [ fhir:v "Alpha-mannosidosis" ] ] [ fhir:code [ fhir:v "610" ] ; fhir:display [ fhir:v "Bethlem myopathy" ] ] [ fhir:code [ fhir:v "610569" ] ; fhir:display [ fhir:v "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome" ] ] [ fhir:code [ fhir:v "610573" ] ; fhir:display [ fhir:v "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome" ] ] [ fhir:code [ fhir:v "611" ] ; fhir:display [ fhir:v "Inclusion body myositis" ] ] [ fhir:code [ fhir:v "611201" ] ; fhir:display [ fhir:v "Oculogastrointestinal-neurodevelopmental syndrome" ] ] [ fhir:code [ fhir:v "611207" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome" ] ] [ fhir:code [ fhir:v "611216" ] ; fhir:display [ fhir:v "Aplastic anemia-intellectual disability-dwarfism syndrome" ] ] [ fhir:code [ fhir:v "611223" ] ; fhir:display [ fhir:v "EN1-related dorsoventral syndrome" ] ] [ fhir:code [ fhir:v "611237" ] ; fhir:display [ fhir:v "Parkinsonism with polyneuropathy" ] ] [ fhir:code [ fhir:v "611247" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 11" ] ] [ fhir:code [ fhir:v "611256" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 12" ] ] [ fhir:code [ fhir:v "613267" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 13" ] ] [ fhir:code [ fhir:v "613274" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 14" ] ] [ fhir:code [ fhir:v "614" ] ; fhir:display [ fhir:v "Thomsen and Becker disease" ] ] [ fhir:code [ fhir:v "615" ] ; fhir:display [ fhir:v "Familial atrial myxoma" ] ] [ fhir:code [ fhir:v "615938" ] ; fhir:display [ fhir:v "Spastic paraparesis-cataracts-speech delay syndrome" ] ] [ fhir:code [ fhir:v "615943" ] ; fhir:display [ fhir:v "Granuloma faciale" ] ] [ fhir:code [ fhir:v "615954" ] ; fhir:display [ fhir:v "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome" ] ] [ fhir:code [ fhir:v "615964" ] ; fhir:display [ fhir:v "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate" ] ] [ fhir:code [ fhir:v "615970" ] ; fhir:display [ fhir:v "Chronic intervillositis of unknown etiology" ] ] [ fhir:code [ fhir:v "615983" ] ; fhir:display [ fhir:v "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation" ] ] [ fhir:code [ fhir:v "615986" ] ; fhir:display [ fhir:v "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster" ] ] [ fhir:code [ fhir:v "616" ] ; fhir:display [ fhir:v "Medulloblastoma" ] ] [ fhir:code [ fhir:v "616874" ] ; fhir:display [ fhir:v "Rare disorder without a determined diagnosis after full investigation" ] ] [ fhir:code [ fhir:v "617" ] ; fhir:display [ fhir:v "Congenital primary megaureter" ] ] [ fhir:code [ fhir:v "617294" ] ; fhir:display [ fhir:v "Twin anemia-polycythemia sequence" ] ] [ fhir:code [ fhir:v "617297" ] ; fhir:display [ fhir:v "Twin-reversed arterial perfusion sequence" ] ] [ fhir:code [ fhir:v "617301" ] ; fhir:display [ fhir:v "Selective intrauterine growth restriction" ] ] [ fhir:code [ fhir:v "617304" ] ; fhir:display [ fhir:v "Amniotic fluid embolism" ] ] [ fhir:code [ fhir:v "617408" ] ; fhir:display [ fhir:v "Classic eosinophilic pustular folliculitis" ] ] [ fhir:code [ fhir:v "617440" ] ; fhir:display [ fhir:v "Painful legs and moving toes syndrome" ] ] [ fhir:code [ fhir:v "617449" ] ; fhir:display [ fhir:v "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome" ] ] [ fhir:code [ fhir:v "617910" ] ; fhir:display [ fhir:v "Conjunctival malignant melanoma" ] ] [ fhir:code [ fhir:v "617916" ] ; fhir:display [ fhir:v "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" ] ] [ fhir:code [ fhir:v "617919" ] ; fhir:display [ fhir:v "F12-associated cold autoinflammatory syndrome" ] ] [ fhir:code [ fhir:v "617930" ] ; fhir:display [ fhir:v "Hemophilia B Leyden" ] ] [ fhir:code [ fhir:v "618" ] ; fhir:display [ fhir:v "Familial melanoma" ] ] [ fhir:code [ fhir:v "618891" ] ; fhir:display [ fhir:v "Chronic neurovisceral acid sphingomyelinase deficiency" ] ] [ fhir:code [ fhir:v "619233" ] ; fhir:display [ fhir:v "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "619363" ] ; fhir:display [ fhir:v "Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18" ] ] [ fhir:code [ fhir:v "619367" ] ; fhir:display [ fhir:v "SAMD9L-associated autoinflammatory syndrome" ] ] [ fhir:code [ fhir:v "619941" ] ; fhir:display [ fhir:v "Immune deficiency due to impaired neutrophil phagocytosis and migration" ] ] [ fhir:code [ fhir:v "619948" ] ; fhir:display [ fhir:v "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome" ] ] [ fhir:code [ fhir:v "619953" ] ; fhir:display [ fhir:v "Familial hyperinflammatory lymphoproliferative immunodeficiency" ] ] [ fhir:code [ fhir:v "619972" ] ; fhir:display [ fhir:v "CADINS disease" ] ] [ fhir:code [ fhir:v "619979" ] ; fhir:display [ fhir:v "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome" ] ] [ fhir:code [ fhir:v "62" ] ; fhir:display [ fhir:v "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3" ] ] [ fhir:code [ fhir:v "620102" ] ; fhir:display [ fhir:v "Non-syndromic unicoronal craniosynostosis" ] ] [ fhir:code [ fhir:v "620113" ] ; fhir:display [ fhir:v "Non-syndromic unilambdoid craniosynostosis" ] ] [ fhir:code [ fhir:v "620139" ] ; fhir:display [ fhir:v "Non-syndromic unifrontosphenoidal craniosynostosis" ] ] [ fhir:code [ fhir:v "620146" ] ; fhir:display [ fhir:v "Non-syndromic unisquamosal craniosynostosis" ] ] [ fhir:code [ fhir:v "620158" ] ; fhir:display [ fhir:v "Non-syndromic non-specific multisutural craniosynostosis" ] ] [ fhir:code [ fhir:v "620178" ] ; fhir:display [ fhir:v "Non-syndromic bilambdoid craniosynostosis" ] ] [ fhir:code [ fhir:v "620186" ] ; fhir:display [ fhir:v "Non-syndromic unicoronal and sagittal craniosynostosis" ] ] [ fhir:code [ fhir:v "620192" ] ; fhir:display [ fhir:v "Non-syndromic metopic and sagittal craniosynostosis" ] ] [ fhir:code [ fhir:v "620198" ] ; fhir:display [ fhir:v "Non-syndromic bicoronal and metopic craniosynostosis" ] ] [ fhir:code [ fhir:v "620205" ] ; fhir:display [ fhir:v "Non-syndromic bicoronal and sagittal craniosynostosis" ] ] [ fhir:code [ fhir:v "620212" ] ; fhir:display [ fhir:v "Non-syndromic pansynostosis" ] ] [ fhir:code [ fhir:v "620217" ] ; fhir:display [ fhir:v "Bartter syndrome type 1" ] ] [ fhir:code [ fhir:v "620220" ] ; fhir:display [ fhir:v "Bartter syndrome type 2" ] ] [ fhir:code [ fhir:v "620363" ] ; fhir:display [ fhir:v "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome" ] ] [ fhir:code [ fhir:v "620368" ] ; fhir:display [ fhir:v "EGF-related primary hypomagnesemia with intellectual disability" ] ] [ fhir:code [ fhir:v "620371" ] ; fhir:display [ fhir:v "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation" ] ] [ fhir:code [ fhir:v "621" ] ; fhir:display [ fhir:v "Hereditary methemoglobinemia" ] ] [ fhir:code [ fhir:v "621758" ] ; fhir:display [ fhir:v "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome" ] ] [ fhir:code [ fhir:v "622" ] ; fhir:display [ fhir:v "Homocystinuria without methylmalonic aciduria" ] ] [ fhir:code [ fhir:v "622099" ] ; fhir:display [ fhir:v "Superior mesenteric artery syndrome" ] ] [ fhir:code [ fhir:v "622925" ] ; fhir:display [ fhir:v "X-linked severe syndromic thoracic aortic aneurysm and dissection" ] ] [ fhir:code [ fhir:v "622934" ] ; fhir:display [ fhir:v "SBDS-related severe neonatal spondylometaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "623615" ] ; fhir:display [ fhir:v "Autoimmune limbic encephalitis" ] ] [ fhir:code [ fhir:v "623626" ] ; fhir:display [ fhir:v "Paraneoplastic cerebellar degeneration" ] ] [ fhir:code [ fhir:v "623695" ] ; fhir:display [ fhir:v "MIR140-related spondyloepiphyseal dysplasia" ] ] [ fhir:code [ fhir:v "623789" ] ; fhir:display [ fhir:v "Body integrity dysphoria" ] ] [ fhir:code [ fhir:v "623801" ] ; fhir:display [ fhir:v "Acute flaccid myelitis" ] ] [ fhir:code [ fhir:v "624" ] ; fhir:display [ fhir:v "Familial multiple nevi flammei" ] ] [ fhir:code [ fhir:v "624166" ] ; fhir:display [ fhir:v "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies" ] ] [ fhir:code [ fhir:v "624178" ] ; fhir:display [ fhir:v "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies" ] ] [ fhir:code [ fhir:v "624190" ] ; fhir:display [ fhir:v "Paraneoplastic isolated brainstem encephalitis" ] ] [ fhir:code [ fhir:v "624199" ] ; fhir:display [ fhir:v "Non-specific autoimmune brainstem encephalitis with characteristic antibodies" ] ] [ fhir:code [ fhir:v "624216" ] ; fhir:display [ fhir:v "Non-specific autoimmune brainstem encephalitis without characteristic antibodies" ] ] [ fhir:code [ fhir:v "624244" ] ; fhir:display [ fhir:v "Postinfectious cerebellitis" ] ] [ fhir:code [ fhir:v "624259" ] ; fhir:display [ fhir:v "Non-specific autoimmune cerebellar ataxia with characteristic antibodies" ] ] [ fhir:code [ fhir:v "624268" ] ; fhir:display [ fhir:v "Non-specific autoimmune cerebellar ataxia without characteristic antibodies" ] ] [ fhir:code [ fhir:v "626" ] ; fhir:display [ fhir:v "Large congenital melanocytic nevus" ] ] [ fhir:code [ fhir:v "627" ] ; fhir:display [ fhir:v "Nance-Horan syndrome" ] ] [ fhir:code [ fhir:v "628" ] ; fhir:display [ fhir:v "Diastrophic dysplasia" ] ] [ fhir:code [ fhir:v "629" ] ; fhir:display [ fhir:v "Short stature due to growth hormone qualitative anomaly" ] ] [ fhir:code [ fhir:v "63" ] ; fhir:display [ fhir:v "Alport syndrome" ] ] [ fhir:code [ fhir:v "631" ] ; fhir:display [ fhir:v "Non-acquired isolated growth hormone deficiency" ] ] [ fhir:code [ fhir:v "631068" ] ; fhir:display [ fhir:v "Autosomal dominant spastic paraplegia type 80" ] ] [ fhir:code [ fhir:v "631073" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 82" ] ] [ fhir:code [ fhir:v "631076" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 83" ] ] [ fhir:code [ fhir:v "631079" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 84" ] ] [ fhir:code [ fhir:v "631082" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 85" ] ] [ fhir:code [ fhir:v "631085" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 86" ] ] [ fhir:code [ fhir:v "631088" ] ; fhir:display [ fhir:v "Autosomal recessive spastic paraplegia type 87" ] ] [ fhir:code [ fhir:v "631095" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 44" ] ] [ fhir:code [ fhir:v "631103" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 48" ] ] [ fhir:code [ fhir:v "631106" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 49" ] ] [ fhir:code [ fhir:v "631248" ] ; fhir:display [ fhir:v "Mitchell Syndrome" ] ] [ fhir:code [ fhir:v "631251" ] ; fhir:display [ fhir:v "Cancer of unknown primary site" ] ] [ fhir:code [ fhir:v "632" ] ; fhir:display [ fhir:v "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia" ] ] [ fhir:code [ fhir:v "63259" ] ; fhir:display [ fhir:v "Iniencephaly" ] ] [ fhir:code [ fhir:v "63260" ] ; fhir:display [ fhir:v "Craniorachischisis" ] ] [ fhir:code [ fhir:v "632603" ] ; fhir:display [ fhir:v "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "63269" ] ; fhir:display [ fhir:v "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis" ] ] [ fhir:code [ fhir:v "63273" ] ; fhir:display [ fhir:v "Distal myopathy with posterior leg and anterior hand involvement" ] ] [ fhir:code [ fhir:v "63275" ] ; fhir:display [ fhir:v "Pemphigoid gestationis" ] ] [ fhir:code [ fhir:v "633" ] ; fhir:display [ fhir:v "Laron syndrome" ] ] [ fhir:code [ fhir:v "633004" ] ; fhir:display [ fhir:v "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome" ] ] [ fhir:code [ fhir:v "633014" ] ; fhir:display [ fhir:v "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome" ] ] [ fhir:code [ fhir:v "633021" ] ; fhir:display [ fhir:v "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome" ] ] [ fhir:code [ fhir:v "633024" ] ; fhir:display [ fhir:v "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome" ] ] [ fhir:code [ fhir:v "633028" ] ; fhir:display [ fhir:v "CPE-related Prader-Willi-like syndrome" ] ] [ fhir:code [ fhir:v "633035" ] ; fhir:display [ fhir:v "Intellectual disability-early-onset cataract-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "633076" ] ; fhir:display [ fhir:v "Split cord malformation, composite type" ] ] [ fhir:code [ fhir:v "633099" ] ; fhir:display [ fhir:v "PAICS deficiency" ] ] [ fhir:code [ fhir:v "633124" ] ; fhir:display [ fhir:v "Invasive scopulariopsis infection" ] ] [ fhir:code [ fhir:v "633211" ] ; fhir:display [ fhir:v "Preaxial digit brachydactyly-webbed fingers" ] ] [ fhir:code [ fhir:v "633228" ] ; fhir:display [ fhir:v "Proximal femoral focal deficiency" ] ] [ fhir:code [ fhir:v "634" ] ; fhir:display [ fhir:v "Netherton syndrome" ] ] [ fhir:code [ fhir:v "63442" ] ; fhir:display [ fhir:v "Angel-shaped phalango-epiphyseal dysplasia" ] ] [ fhir:code [ fhir:v "63446" ] ; fhir:display [ fhir:v "Acrocapitofemoral dysplasia" ] ] [ fhir:code [ fhir:v "634461" ] ; fhir:display [ fhir:v "Mosaic neurofibromatosis type 1" ] ] [ fhir:code [ fhir:v "634475" ] ; fhir:display [ fhir:v "Mosaic NF2-related schwannomatosis" ] ] [ fhir:code [ fhir:v "634492" ] ; fhir:display [ fhir:v "Mosaic schwannomatosis" ] ] [ fhir:code [ fhir:v "634511" ] ; fhir:display [ fhir:v "Mosaic Legius syndrome" ] ] [ fhir:code [ fhir:v "63455" ] ; fhir:display [ fhir:v "Paraneoplastic pemphigus" ] ] [ fhir:code [ fhir:v "635" ] ; fhir:display [ fhir:v "Neuroblastoma" ] ] [ fhir:code [ fhir:v "636" ] ; fhir:display [ fhir:v "Neurofibromatosis type 1" ] ] [ fhir:code [ fhir:v "636941" ] ; fhir:display [ fhir:v "Vascular Ehlers-Danlos-polymicrogyria syndrome" ] ] [ fhir:code [ fhir:v "636945" ] ; fhir:display [ fhir:v "Invasive Candidiasis" ] ] [ fhir:code [ fhir:v "636950" ] ; fhir:display [ fhir:v "Glaucomatocyclitic crisis disease" ] ] [ fhir:code [ fhir:v "636955" ] ; fhir:display [ fhir:v "Endemic pemphigus foliaceus" ] ] [ fhir:code [ fhir:v "636965" ] ; fhir:display [ fhir:v "Autosomal dominant myosin storage myopathy" ] ] [ fhir:code [ fhir:v "636970" ] ; fhir:display [ fhir:v "Autosomal recessive myosin storage myopathy" ] ] [ fhir:code [ fhir:v "637" ] ; fhir:display [ fhir:v "Full NF2-related schwannomatosis" ] ] [ fhir:code [ fhir:v "637013" ] ; fhir:display [ fhir:v "SMARCA2-related blepharophimosis-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "637051" ] ; fhir:display [ fhir:v "Borna virus encephalitis" ] ] [ fhir:code [ fhir:v "637061" ] ; fhir:display [ fhir:v "Isolated optic nerve hypoplasia" ] ] [ fhir:code [ fhir:v "637064" ] ; fhir:display [ fhir:v "Isolated optic nerve aplasia" ] ] [ fhir:code [ fhir:v "638" ] ; fhir:display [ fhir:v "Neurofibromatosis-Noonan syndrome" ] ] [ fhir:code [ fhir:v "63862" ] ; fhir:display [ fhir:v "Schisis association" ] ] [ fhir:code [ fhir:v "639" ] ; fhir:display [ fhir:v "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG" ] ] [ fhir:code [ fhir:v "63999" ] ; fhir:display [ fhir:v "IgG4-related mediastinitis" ] ] [ fhir:code [ fhir:v "64" ] ; fhir:display [ fhir:v "Alström syndrome" ] ] [ fhir:code [ fhir:v "640" ] ; fhir:display [ fhir:v "Hereditary neuropathy with liability to pressure palsies" ] ] [ fhir:code [ fhir:v "641" ] ; fhir:display [ fhir:v "Multifocal motor neuropathy" ] ] [ fhir:code [ fhir:v "641350" ] ; fhir:display [ fhir:v "Immunotherapy induced hypophysitis" ] ] [ fhir:code [ fhir:v "641353" ] ; fhir:display [ fhir:v "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome" ] ] [ fhir:code [ fhir:v "641361" ] ; fhir:display [ fhir:v "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome" ] ] [ fhir:code [ fhir:v "641368" ] ; fhir:display [ fhir:v "Autosomal recessive hyper-IgE syndrome" ] ] [ fhir:code [ fhir:v "641372" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)" ] ] [ fhir:code [ fhir:v "641375" ] ; fhir:display [ fhir:v "B-lymphoblastic leukemia/lymphoma with t(17;19)" ] ] [ fhir:code [ fhir:v "641380" ] ; fhir:display [ fhir:v "PAPASH syndrome" ] ] [ fhir:code [ fhir:v "641385" ] ; fhir:display [ fhir:v "PASS syndrome" ] ] [ fhir:code [ fhir:v "641390" ] ; fhir:display [ fhir:v "PsAPASH syndrome" ] ] [ fhir:code [ fhir:v "641396" ] ; fhir:display [ fhir:v "Central nervous system tuberculosis" ] ] [ fhir:code [ fhir:v "641496" ] ; fhir:display [ fhir:v "Childhood-onset schizophrenia" ] ] [ fhir:code [ fhir:v "641829" ] ; fhir:display [ fhir:v "Neonatal compartment syndrome" ] ] [ fhir:code [ fhir:v "642" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 4" ] ] [ fhir:code [ fhir:v "642071" ] ; fhir:display [ fhir:v "Primary pulmonary vein stenosis" ] ] [ fhir:code [ fhir:v "642085" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type" ] ] [ fhir:code [ fhir:v "642099" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" ] ] [ fhir:code [ fhir:v "642671" ] ; fhir:display [ fhir:v "Familial hyperaldosteronism type IV" ] ] [ fhir:code [ fhir:v "642675" ] ; fhir:display [ fhir:v "CHD8 overgrowth syndrome" ] ] [ fhir:code [ fhir:v "642691" ] ; fhir:display [ fhir:v "Fragile X-associated primary ovarian insufficiency" ] ] [ fhir:code [ fhir:v "642747" ] ; fhir:display [ fhir:v "PUM1-related cerebellar ataxia" ] ] [ fhir:code [ fhir:v "642763" ] ; fhir:display [ fhir:v "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation" ] ] [ fhir:code [ fhir:v "642788" ] ; fhir:display [ fhir:v "Cushing syndrome due to cortisol-producing adrenocortical adenoma" ] ] [ fhir:code [ fhir:v "64280" ] ; fhir:display [ fhir:v "Childhood absence epilepsy" ] ] [ fhir:code [ fhir:v "642945" ] ; fhir:display [ fhir:v "Perrault syndrome type 1" ] ] [ fhir:code [ fhir:v "642954" ] ; fhir:display [ fhir:v "Autosomal recessive ataxia due to PEX16 deficiency" ] ] [ fhir:code [ fhir:v "642965" ] ; fhir:display [ fhir:v "Autosomal recessive ataxia due to PEX2 deficiency" ] ] [ fhir:code [ fhir:v "642976" ] ; fhir:display [ fhir:v "Perrault syndrome type 2" ] ] [ fhir:code [ fhir:v "643" ] ; fhir:display [ fhir:v "Giant axonal neuropathy" ] ] [ fhir:code [ fhir:v "643503" ] ; fhir:display [ fhir:v "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome" ] ] [ fhir:code [ fhir:v "643538" ] ; fhir:display [ fhir:v "Hao-Fountain syndrome due to USP7 mutation" ] ] [ fhir:code [ fhir:v "643549" ] ; fhir:display [ fhir:v "Hao-Fountain syndrome" ] ] [ fhir:code [ fhir:v "644" ] ; fhir:display [ fhir:v "NARP syndrome" ] ] [ fhir:code [ fhir:v "645188" ] ; fhir:display [ fhir:v "Spinal dermal sinus" ] ] [ fhir:code [ fhir:v "645285" ] ; fhir:display [ fhir:v "Chaotic conus spinal cord lipoma" ] ] [ fhir:code [ fhir:v "645288" ] ; fhir:display [ fhir:v "Terminal extramedullary conus spinal cord lipoma" ] ] [ fhir:code [ fhir:v "645291" ] ; fhir:display [ fhir:v "Transitional extramedullary conus spinal cord lipoma" ] ] [ fhir:code [ fhir:v "645294" ] ; fhir:display [ fhir:v "Posterior extramedullary conus spinal cord lipoma" ] ] [ fhir:code [ fhir:v "645297" ] ; fhir:display [ fhir:v "Extramedullary conus spinal cord lipoma" ] ] [ fhir:code [ fhir:v "645300" ] ; fhir:display [ fhir:v "Lipomatous non-saccular limited dorsal myeloschisis" ] ] [ fhir:code [ fhir:v "645310" ] ; fhir:display [ fhir:v "Fibroneural non-saccular limited dorsal myeloschisis" ] ] [ fhir:code [ fhir:v "645322" ] ; fhir:display [ fhir:v "Isolated transitional filum lipoma" ] ] [ fhir:code [ fhir:v "645325" ] ; fhir:display [ fhir:v "Isolated filum lipoma" ] ] [ fhir:code [ fhir:v "645334" ] ; fhir:display [ fhir:v "Retained medullary cord" ] ] [ fhir:code [ fhir:v "645337" ] ; fhir:display [ fhir:v "Terminal myelocystocele" ] ] [ fhir:code [ fhir:v "645340" ] ; fhir:display [ fhir:v "Non-terminal myelocystocele" ] ] [ fhir:code [ fhir:v "645343" ] ; fhir:display [ fhir:v "Non-saccular limited dorsal myeloschisis" ] ] [ fhir:code [ fhir:v "645350" ] ; fhir:display [ fhir:v "Segmental arterial mediolysis" ] ] [ fhir:code [ fhir:v "645354" ] ; fhir:display [ fhir:v "Saccular limited dorsal myeloschisis" ] ] [ fhir:code [ fhir:v "645359" ] ; fhir:display [ fhir:v "Intramedullary non-dysraphic spinal cord lipoma" ] ] [ fhir:code [ fhir:v "645362" ] ; fhir:display [ fhir:v "Dorsal spinal cord lipoma" ] ] [ fhir:code [ fhir:v "645378" ] ; fhir:display [ fhir:v "Myelic limited dorsal malformation" ] ] [ fhir:code [ fhir:v "645383" ] ; fhir:display [ fhir:v "True myelomeningocele" ] ] [ fhir:code [ fhir:v "645388" ] ; fhir:display [ fhir:v "Hemi-myelomeningocele" ] ] [ fhir:code [ fhir:v "645393" ] ; fhir:display [ fhir:v "Hemi-myeloschisis" ] ] [ fhir:code [ fhir:v "645398" ] ; fhir:display [ fhir:v "Myeloschisis" ] ] [ fhir:code [ fhir:v "645401" ] ; fhir:display [ fhir:v "True myeloschisis" ] ] [ fhir:code [ fhir:v "64542" ] ; fhir:display [ fhir:v "Acrofacial dysostosis, Kennedy-Teebi type" ] ] [ fhir:code [ fhir:v "64545" ] ; fhir:display [ fhir:v "Benign idiopathic neonatal seizures" ] ] [ fhir:code [ fhir:v "645613" ] ; fhir:display [ fhir:v "Classical dermatomyositis" ] ] [ fhir:code [ fhir:v "645617" ] ; fhir:display [ fhir:v "Amyopathic dermatomyositis" ] ] [ fhir:code [ fhir:v "645626" ] ; fhir:display [ fhir:v "Adermatopathic dermatomyositis" ] ] [ fhir:code [ fhir:v "645749" ] ; fhir:display [ fhir:v "Congenital esophageal stenosis" ] ] [ fhir:code [ fhir:v "645793" ] ; fhir:display [ fhir:v "Spontaneous intestinal perforation" ] ] [ fhir:code [ fhir:v "645807" ] ; fhir:display [ fhir:v "Primary tuberculous lymphadenitis" ] ] [ fhir:code [ fhir:v "645814" ] ; fhir:display [ fhir:v "Primary pulmonary tuberculosis" ] ] [ fhir:code [ fhir:v "645822" ] ; fhir:display [ fhir:v "Primary bone and joint tuberculosis" ] ] [ fhir:code [ fhir:v "645849" ] ; fhir:display [ fhir:v "Primary cutaneous tuberculosis" ] ] [ fhir:code [ fhir:v "645854" ] ; fhir:display [ fhir:v "Multifocal tuberculosis" ] ] [ fhir:code [ fhir:v "645859" ] ; fhir:display [ fhir:v "Primary tuberculosis of the digestive system" ] ] [ fhir:code [ fhir:v "645874" ] ; fhir:display [ fhir:v "Primary genito-urinary tuberculosis" ] ] [ fhir:code [ fhir:v "646" ] ; fhir:display [ fhir:v "Niemann-Pick disease type C" ] ] [ fhir:code [ fhir:v "646113" ] ; fhir:display [ fhir:v "Intermediate collagen VI-related muscular dystrophy" ] ] [ fhir:code [ fhir:v "646136" ] ; fhir:display [ fhir:v "Dysplastic cortical hyperostosis, Al-Gazali type" ] ] [ fhir:code [ fhir:v "646139" ] ; fhir:display [ fhir:v "Dysplastic cortical hyperostosis" ] ] [ fhir:code [ fhir:v "646278" ] ; fhir:display [ fhir:v "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "64686" ] ; fhir:display [ fhir:v "Tolosa-Hunt syndrome" ] ] [ fhir:code [ fhir:v "64692" ] ; fhir:display [ fhir:v "Oroya fever" ] ] [ fhir:code [ fhir:v "64694" ] ; fhir:display [ fhir:v "Trench fever" ] ] [ fhir:code [ fhir:v "647" ] ; fhir:display [ fhir:v "Nijmegen breakage syndrome" ] ] [ fhir:code [ fhir:v "64720" ] ; fhir:display [ fhir:v "Leiomyosarcoma" ] ] [ fhir:code [ fhir:v "64722" ] ; fhir:display [ fhir:v "Granulomatous mastitis" ] ] [ fhir:code [ fhir:v "64734" ] ; fhir:display [ fhir:v "Iridocorneal endothelial syndrome" ] ] [ fhir:code [ fhir:v "64739" ] ; fhir:display [ fhir:v "Ovarian hyperstimulation syndrome" ] ] [ fhir:code [ fhir:v "64741" ] ; fhir:display [ fhir:v "Pulmonary blastoma" ] ] [ fhir:code [ fhir:v "64742" ] ; fhir:display [ fhir:v "Pleuropulmonary blastoma" ] ] [ fhir:code [ fhir:v "64743" ] ; fhir:display [ fhir:v "Hepatoportal sclerosis" ] ] [ fhir:code [ fhir:v "64744" ] ; fhir:display [ fhir:v "IgG4-related thyroid disease" ] ] [ fhir:code [ fhir:v "64745" ] ; fhir:display [ fhir:v "Pruritic urticarial papules and plaques of pregnancy" ] ] [ fhir:code [ fhir:v "64748" ] ; fhir:display [ fhir:v "Dejerine-Sottas syndrome" ] ] [ fhir:code [ fhir:v "64751" ] ; fhir:display [ fhir:v "Hereditary motor and sensory neuropathy type 5" ] ] [ fhir:code [ fhir:v "64752" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 5" ] ] [ fhir:code [ fhir:v "64753" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia with axonal neuropathy type 2" ] ] [ fhir:code [ fhir:v "64754" ] ; fhir:display [ fhir:v "Nevus comedonicus syndrome" ] ] [ fhir:code [ fhir:v "64755" ] ; fhir:display [ fhir:v "Becker nevus syndrome" ] ] [ fhir:code [ fhir:v "647667" ] ; fhir:display [ fhir:v "Mandibuloacral dysplasia associated to MTX2" ] ] [ fhir:code [ fhir:v "647676" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia type 7" ] ] [ fhir:code [ fhir:v "647681" ] ; fhir:display [ fhir:v "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome" ] ] [ fhir:code [ fhir:v "647772" ] ; fhir:display [ fhir:v "Isolated primary pigmented nodular adrenocortical disease" ] ] [ fhir:code [ fhir:v "647782" ] ; fhir:display [ fhir:v "Isolated micronodular adrenocortical disease" ] ] [ fhir:code [ fhir:v "647788" ] ; fhir:display [ fhir:v "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" ] ] [ fhir:code [ fhir:v "647794" ] ; fhir:display [ fhir:v "Isolated persistent urogenital sinus" ] ] [ fhir:code [ fhir:v "647799" ] ; fhir:display [ fhir:v "MYT1L-related developmental delay-intellectual disability-obesity syndrome" ] ] [ fhir:code [ fhir:v "647804" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to FCHO1 deficiency" ] ] [ fhir:code [ fhir:v "647811" ] ; fhir:display [ fhir:v "Cardiac-urogenital syndrome" ] ] [ fhir:code [ fhir:v "647815" ] ; fhir:display [ fhir:v "Keratoendotheliitis fugax hereditaria" ] ] [ fhir:code [ fhir:v "647823" ] ; fhir:display [ fhir:v "Idiopathic pregnancy-associated osteoporosis" ] ] [ fhir:code [ fhir:v "647834" ] ; fhir:display [ fhir:v "SLC40A1-related hemochromatosis" ] ] [ fhir:code [ fhir:v "647916" ] ; fhir:display [ fhir:v "Conjoined twins" ] ] [ fhir:code [ fhir:v "648" ] ; fhir:display [ fhir:v "Noonan syndrome" ] ] [ fhir:code [ fhir:v "648562" ] ; fhir:display [ fhir:v "Ferroportin Disease" ] ] [ fhir:code [ fhir:v "648581" ] ; fhir:display [ fhir:v "Digenic hemochromatosis" ] ] [ fhir:code [ fhir:v "648665" ] ; fhir:display [ fhir:v "Infectious scleritis" ] ] [ fhir:code [ fhir:v "648675" ] ; fhir:display [ fhir:v "Idiopathic scleritis" ] ] [ fhir:code [ fhir:v "648681" ] ; fhir:display [ fhir:v "Immune-mediated scleritis" ] ] [ fhir:code [ fhir:v "648684" ] ; fhir:display [ fhir:v "Central retinal artery occlusion" ] ] [ fhir:code [ fhir:v "648919" ] ; fhir:display [ fhir:v "Idiopathic catatonia" ] ] [ fhir:code [ fhir:v "648992" ] ; fhir:display [ fhir:v "Non-syndromic bridging bronchus" ] ] [ fhir:code [ fhir:v "649" ] ; fhir:display [ fhir:v "Norrie disease" ] ] [ fhir:code [ fhir:v "649010" ] ; fhir:display [ fhir:v "Non-syndromic congenital bronchial atresia" ] ] [ fhir:code [ fhir:v "649029" ] ; fhir:display [ fhir:v "Isolated left bronchial isomerism" ] ] [ fhir:code [ fhir:v "65" ] ; fhir:display [ fhir:v "Leber congenital amaurosis" ] ] [ fhir:code [ fhir:v "650" ] ; fhir:display [ fhir:v "LCAT deficiency" ] ] [ fhir:code [ fhir:v "650077" ] ; fhir:display [ fhir:v "Genetic central precocious puberty in female" ] ] [ fhir:code [ fhir:v "650082" ] ; fhir:display [ fhir:v "Secondary central precocious puberty in female" ] ] [ fhir:code [ fhir:v "650087" ] ; fhir:display [ fhir:v "Primary central precocious puberty in male" ] ] [ fhir:code [ fhir:v "650092" ] ; fhir:display [ fhir:v "Secondary central precocious puberty in male" ] ] [ fhir:code [ fhir:v "650097" ] ; fhir:display [ fhir:v "Genetic central precocious puberty in male" ] ] [ fhir:code [ fhir:v "650102" ] ; fhir:display [ fhir:v "Non-genetic central precocious puberty in male" ] ] [ fhir:code [ fhir:v "652" ] ; fhir:display [ fhir:v "Multiple endocrine neoplasia type 1" ] ] [ fhir:code [ fhir:v "65250" ] ; fhir:display [ fhir:v "Perineural cyst" ] ] [ fhir:code [ fhir:v "65282" ] ; fhir:display [ fhir:v "Carvajal syndrome" ] ] [ fhir:code [ fhir:v "65283" ] ; fhir:display [ fhir:v "Timothy syndrome" ] ] [ fhir:code [ fhir:v "65284" ] ; fhir:display [ fhir:v "Biotin-thiamine-responsive basal ganglia disease" ] ] [ fhir:code [ fhir:v "65285" ] ; fhir:display [ fhir:v "Lhermitte-Duclos disease" ] ] [ fhir:code [ fhir:v "65286" ] ; fhir:display [ fhir:v "3q29 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "65287" ] ; fhir:display [ fhir:v "Beta-ureidopropionase deficiency" ] ] [ fhir:code [ fhir:v "65288" ] ; fhir:display [ fhir:v "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" ] ] [ fhir:code [ fhir:v "653" ] ; fhir:display [ fhir:v "Multiple endocrine neoplasia type 2" ] ] [ fhir:code [ fhir:v "654" ] ; fhir:display [ fhir:v "Nephroblastoma" ] ] [ fhir:code [ fhir:v "655" ] ; fhir:display [ fhir:v "Nephronophthisis" ] ] [ fhir:code [ fhir:v "656" ] ; fhir:display [ fhir:v "Genetic steroid-resistant nephrotic syndrome" ] ] [ fhir:code [ fhir:v "65681" ] ; fhir:display [ fhir:v "Vaginal atresia" ] ] [ fhir:code [ fhir:v "65682" ] ; fhir:display [ fhir:v "Benign recurrent intrahepatic cholestasis" ] ] [ fhir:code [ fhir:v "65683" ] ; fhir:display [ fhir:v "Isolated focal cortical dysplasia" ] ] [ fhir:code [ fhir:v "65684" ] ; fhir:display [ fhir:v "Monomelic amyotrophy" ] ] [ fhir:code [ fhir:v "65720" ] ; fhir:display [ fhir:v "Arthrogryposis-severe scoliosis syndrome" ] ] [ fhir:code [ fhir:v "65743" ] ; fhir:display [ fhir:v "Autosomal dominant multiple pterygium syndrome" ] ] [ fhir:code [ fhir:v "65748" ] ; fhir:display [ fhir:v "Multiple self-healing squamous epithelioma" ] ] [ fhir:code [ fhir:v "65759" ] ; fhir:display [ fhir:v "Carpenter syndrome" ] ] [ fhir:code [ fhir:v "65798" ] ; fhir:display [ fhir:v "Goodman syndrome" ] ] [ fhir:code [ fhir:v "659" ] ; fhir:display [ fhir:v "Mutilating palmoplantar keratoderma with periorificial keratotic plaques" ] ] [ fhir:code [ fhir:v "660" ] ; fhir:display [ fhir:v "Omphalocele" ] ] [ fhir:code [ fhir:v "661" ] ; fhir:display [ fhir:v "Congenital central hypoventilation syndrome" ] ] [ fhir:code [ fhir:v "662" ] ; fhir:display [ fhir:v "Yellow nail syndrome" ] ] [ fhir:code [ fhir:v "663" ] ; fhir:display [ fhir:v "Mitochondrial DNA-related progressive external ophthalmoplegia" ] ] [ fhir:code [ fhir:v "664" ] ; fhir:display [ fhir:v "Ornithine transcarbamylase deficiency" ] ] [ fhir:code [ fhir:v "66518" ] ; fhir:display [ fhir:v "Short fifth metacarpals-insulin resistance syndrome" ] ] [ fhir:code [ fhir:v "66529" ] ; fhir:display [ fhir:v "Tako-Tsubo cardiomyopathy" ] ] [ fhir:code [ fhir:v "666" ] ; fhir:display [ fhir:v "Osteogenesis imperfecta" ] ] [ fhir:code [ fhir:v "66624" ] ; fhir:display [ fhir:v "PANDAS" ] ] [ fhir:code [ fhir:v "66625" ] ; fhir:display [ fhir:v "Cerebrooculonasal syndrome" ] ] [ fhir:code [ fhir:v "66627" ] ; fhir:display [ fhir:v "Tenosynovial giant cell tumor" ] ] [ fhir:code [ fhir:v "66628" ] ; fhir:display [ fhir:v "Obesity due to congenital leptin deficiency" ] ] [ fhir:code [ fhir:v "66629" ] ; fhir:display [ fhir:v "Goldberg-Shprintzen megacolon syndrome" ] ] [ fhir:code [ fhir:v "66630" ] ; fhir:display [ fhir:v "Congenital pseudoarthrosis of the clavicle" ] ] [ fhir:code [ fhir:v "66631" ] ; fhir:display [ fhir:v "CEDNIK syndrome" ] ] [ fhir:code [ fhir:v "66633" ] ; fhir:display [ fhir:v "Sensorineural hearing loss-early graying-essential tremor syndrome" ] ] [ fhir:code [ fhir:v "66634" ] ; fhir:display [ fhir:v "Dilated cardiomyopathy with ataxia" ] ] [ fhir:code [ fhir:v "66637" ] ; fhir:display [ fhir:v "Diaphanospondylodysostosis" ] ] [ fhir:code [ fhir:v "66661" ] ; fhir:display [ fhir:v "Mast cell sarcoma" ] ] [ fhir:code [ fhir:v "66662" ] ; fhir:display [ fhir:v "Extracutaneous mastocytoma" ] ] [ fhir:code [ fhir:v "667" ] ; fhir:display [ fhir:v "Autosomal recessive malignant osteopetrosis" ] ] [ fhir:code [ fhir:v "668" ] ; fhir:display [ fhir:v "Osteosarcoma" ] ] [ fhir:code [ fhir:v "67" ] ; fhir:display [ fhir:v "Amoebiasis due to Entamoeba histolytica" ] ] [ fhir:code [ fhir:v "67036" ] ; fhir:display [ fhir:v "Autosomal dominant optic atrophy and cataract" ] ] [ fhir:code [ fhir:v "67038" ] ; fhir:display [ fhir:v "B-cell chronic lymphocytic leukemia" ] ] [ fhir:code [ fhir:v "67039" ] ; fhir:display [ fhir:v "Segmental odontomaxillary dysplasia" ] ] [ fhir:code [ fhir:v "67041" ] ; fhir:display [ fhir:v "Hyaluronidase deficiency" ] ] [ fhir:code [ fhir:v "67042" ] ; fhir:display [ fhir:v "Late-onset retinal degeneration" ] ] [ fhir:code [ fhir:v "67043" ] ; fhir:display [ fhir:v "Amoebic keratitis" ] ] [ fhir:code [ fhir:v "67044" ] ; fhir:display [ fhir:v "Thrombocytopenia with congenital dyserythropoietic anemia" ] ] [ fhir:code [ fhir:v "67045" ] ; fhir:display [ fhir:v "X-linked intellectual disability with isolated growth hormone deficiency" ] ] [ fhir:code [ fhir:v "67046" ] ; fhir:display [ fhir:v "3-methylglutaconic aciduria type 1" ] ] [ fhir:code [ fhir:v "67047" ] ; fhir:display [ fhir:v "3-methylglutaconic aciduria type 3" ] ] [ fhir:code [ fhir:v "67048" ] ; fhir:display [ fhir:v "3-methylglutaconic aciduria type 4" ] ] [ fhir:code [ fhir:v "672" ] ; fhir:display [ fhir:v "Pallister-Hall syndrome" ] ] [ fhir:code [ fhir:v "673" ] ; fhir:display [ fhir:v "Malaria" ] ] [ fhir:code [ fhir:v "674" ] ; fhir:display [ fhir:v "Accessory pancreas" ] ] [ fhir:code [ fhir:v "675" ] ; fhir:display [ fhir:v "Annular pancreas" ] ] [ fhir:code [ fhir:v "676" ] ; fhir:display [ fhir:v "Hereditary chronic pancreatitis" ] ] [ fhir:code [ fhir:v "677" ] ; fhir:display [ fhir:v "Pancreatoblastoma" ] ] [ fhir:code [ fhir:v "678" ] ; fhir:display [ fhir:v "Papillon-Lefèvre syndrome" ] ] [ fhir:code [ fhir:v "679" ] ; fhir:display [ fhir:v "Malignant atrophic papulosis" ] ] [ fhir:code [ fhir:v "68" ] ; fhir:display [ fhir:v "Amoebiasis due to free-living amoebae" ] ] [ fhir:code [ fhir:v "681" ] ; fhir:display [ fhir:v "Hypokalemic periodic paralysis" ] ] [ fhir:code [ fhir:v "682" ] ; fhir:display [ fhir:v "Hyperkalemic periodic paralysis" ] ] [ fhir:code [ fhir:v "683" ] ; fhir:display [ fhir:v "Progressive supranuclear palsy" ] ] [ fhir:code [ fhir:v "684" ] ; fhir:display [ fhir:v "Paramyotonia congenita of Von Eulenburg" ] ] [ fhir:code [ fhir:v "69061" ] ; fhir:display [ fhir:v "Idiopathic steroid-sensitive nephrotic syndrome" ] ] [ fhir:code [ fhir:v "69063" ] ; fhir:display [ fhir:v "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization" ] ] [ fhir:code [ fhir:v "69076" ] ; fhir:display [ fhir:v "Familial renal glucosuria" ] ] [ fhir:code [ fhir:v "69077" ] ; fhir:display [ fhir:v "Rhabdoid tumor" ] ] [ fhir:code [ fhir:v "69078" ] ; fhir:display [ fhir:v "Liposarcoma" ] ] [ fhir:code [ fhir:v "69082" ] ; fhir:display [ fhir:v "Odonto-tricho-ungual-digito-palmar syndrome" ] ] [ fhir:code [ fhir:v "69083" ] ; fhir:display [ fhir:v "Ectodermal dysplasia with natal teeth, Turnpenny type" ] ] [ fhir:code [ fhir:v "69084" ] ; fhir:display [ fhir:v "Pure hair and nail ectodermal dysplasia" ] ] [ fhir:code [ fhir:v "69085" ] ; fhir:display [ fhir:v "Limb-mammary syndrome" ] ] [ fhir:code [ fhir:v "69087" ] ; fhir:display [ fhir:v "Naegeli-Franceschetti-Jadassohn syndrome" ] ] [ fhir:code [ fhir:v "69088" ] ; fhir:display [ fhir:v "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome" ] ] [ fhir:code [ fhir:v "69125" ] ; fhir:display [ fhir:v "Anonychia with flexural pigmentation" ] ] [ fhir:code [ fhir:v "69126" ] ; fhir:display [ fhir:v "PAPA syndrome" ] ] [ fhir:code [ fhir:v "69663" ] ; fhir:display [ fhir:v "Low phospholipid-associated cholelithiasis" ] ] [ fhir:code [ fhir:v "69665" ] ; fhir:display [ fhir:v "Intrahepatic cholestasis of pregnancy" ] ] [ fhir:code [ fhir:v "69723" ] ; fhir:display [ fhir:v "Tyrosinemia type 3" ] ] [ fhir:code [ fhir:v "69735" ] ; fhir:display [ fhir:v "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" ] ] [ fhir:code [ fhir:v "69736" ] ; fhir:display [ fhir:v "Bilateral acute depigmentation of the iris" ] ] [ fhir:code [ fhir:v "69737" ] ; fhir:display [ fhir:v "Bosley-Salih-Alorainy syndrome" ] ] [ fhir:code [ fhir:v "69739" ] ; fhir:display [ fhir:v "Athabaskan brainstem dysgenesis syndrome" ] ] [ fhir:code [ fhir:v "69744" ] ; fhir:display [ fhir:v "Circumscribed palmoplantar hypokeratosis" ] ] [ fhir:code [ fhir:v "69745" ] ; fhir:display [ fhir:v "Warty dyskeratoma" ] ] [ fhir:code [ fhir:v "699" ] ; fhir:display [ fhir:v "Pearson syndrome" ] ] [ fhir:code [ fhir:v "7" ] ; fhir:display [ fhir:v "3C syndrome" ] ] [ fhir:code [ fhir:v "70" ] ; fhir:display [ fhir:v "Proximal spinal muscular atrophy" ] ] [ fhir:code [ fhir:v "700" ] ; fhir:display [ fhir:v "Alopecia totalis" ] ] [ fhir:code [ fhir:v "701" ] ; fhir:display [ fhir:v "Alopecia universalis" ] ] [ fhir:code [ fhir:v "702" ] ; fhir:display [ fhir:v "Pelizaeus-Merzbacher disease" ] ] [ fhir:code [ fhir:v "703" ] ; fhir:display [ fhir:v "Bullous pemphigoid" ] ] [ fhir:code [ fhir:v "704" ] ; fhir:display [ fhir:v "Pemphigus vulgaris" ] ] [ fhir:code [ fhir:v "70472" ] ; fhir:display [ fhir:v "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" ] ] [ fhir:code [ fhir:v "70475" ] ; fhir:display [ fhir:v "Radiation proctitis" ] ] [ fhir:code [ fhir:v "70476" ] ; fhir:display [ fhir:v "Vernal keratoconjunctivitis" ] ] [ fhir:code [ fhir:v "705" ] ; fhir:display [ fhir:v "Pendred syndrome" ] ] [ fhir:code [ fhir:v "70567" ] ; fhir:display [ fhir:v "Cholangiocarcinoma" ] ] [ fhir:code [ fhir:v "70568" ] ; fhir:display [ fhir:v "Post-transplant lymphoproliferative disease" ] ] [ fhir:code [ fhir:v "70573" ] ; fhir:display [ fhir:v "Small cell lung cancer" ] ] [ fhir:code [ fhir:v "70578" ] ; fhir:display [ fhir:v "Adult acute respiratory distress syndrome" ] ] [ fhir:code [ fhir:v "70587" ] ; fhir:display [ fhir:v "Infant acute respiratory distress syndrome" ] ] [ fhir:code [ fhir:v "70588" ] ; fhir:display [ fhir:v "Meconium aspiration syndrome" ] ] [ fhir:code [ fhir:v "70589" ] ; fhir:display [ fhir:v "Bronchopulmonary dysplasia" ] ] [ fhir:code [ fhir:v "70590" ] ; fhir:display [ fhir:v "Infantile apnea" ] ] [ fhir:code [ fhir:v "70591" ] ; fhir:display [ fhir:v "Chronic thromboembolic pulmonary hypertension" ] ] [ fhir:code [ fhir:v "70592" ] ; fhir:display [ fhir:v "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" ] ] [ fhir:code [ fhir:v "70593" ] ; fhir:display [ fhir:v "Immunodeficiency due to selective anti-polysaccharide antibody deficiency" ] ] [ fhir:code [ fhir:v "70594" ] ; fhir:display [ fhir:v "Dopa-responsive dystonia due to sepiapterin reductase deficiency" ] ] [ fhir:code [ fhir:v "70595" ] ; fhir:display [ fhir:v "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" ] ] [ fhir:code [ fhir:v "70596" ] ; fhir:display [ fhir:v "Congenital Epstein-Barr virus infection" ] ] [ fhir:code [ fhir:v "707" ] ; fhir:display [ fhir:v "Plague" ] ] [ fhir:code [ fhir:v "708" ] ; fhir:display [ fhir:v "Peters anomaly" ] ] [ fhir:code [ fhir:v "709" ] ; fhir:display [ fhir:v "Peters plus syndrome" ] ] [ fhir:code [ fhir:v "71" ] ; fhir:display [ fhir:v "Chylomicron retention disease" ] ] [ fhir:code [ fhir:v "710" ] ; fhir:display [ fhir:v "Pfeiffer syndrome" ] ] [ fhir:code [ fhir:v "712" ] ; fhir:display [ fhir:v "Hemolytic anemia due to glucophosphate isomerase deficiency" ] ] [ fhir:code [ fhir:v "71211" ] ; fhir:display [ fhir:v "Neuromyelitis optica spectrum disorder" ] ] [ fhir:code [ fhir:v "71212" ] ; fhir:display [ fhir:v "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "71213" ] ; fhir:display [ fhir:v "Retinal capillary malformation" ] ] [ fhir:code [ fhir:v "71267" ] ; fhir:display [ fhir:v "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "71271" ] ; fhir:display [ fhir:v "Split hand-split foot-deafness syndrome" ] ] [ fhir:code [ fhir:v "71272" ] ; fhir:display [ fhir:v "Sandifer syndrome" ] ] [ fhir:code [ fhir:v "71273" ] ; fhir:display [ fhir:v "Renal nutcracker syndrome" ] ] [ fhir:code [ fhir:v "71274" ] ; fhir:display [ fhir:v "Disseminated peritoneal leiomyomatosis" ] ] [ fhir:code [ fhir:v "71275" ] ; fhir:display [ fhir:v "Rh deficiency syndrome" ] ] [ fhir:code [ fhir:v "71276" ] ; fhir:display [ fhir:v "Silent sinus syndrome" ] ] [ fhir:code [ fhir:v "71277" ] ; fhir:display [ fhir:v "Classic glucose transporter type 1 deficiency syndrome" ] ] [ fhir:code [ fhir:v "71278" ] ; fhir:display [ fhir:v "Congenital brain dysgenesis due to glutamine synthetase deficiency" ] ] [ fhir:code [ fhir:v "71279" ] ; fhir:display [ fhir:v "CANOMAD syndrome" ] ] [ fhir:code [ fhir:v "71289" ] ; fhir:display [ fhir:v "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" ] ] [ fhir:code [ fhir:v "71290" ] ; fhir:display [ fhir:v "Familial platelet disorder with associated myeloid malignancy" ] ] [ fhir:code [ fhir:v "713" ] ; fhir:display [ fhir:v "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency" ] ] [ fhir:code [ fhir:v "714" ] ; fhir:display [ fhir:v "Hemolytic anemia due to diphosphoglycerate mutase deficiency" ] ] [ fhir:code [ fhir:v "71493" ] ; fhir:display [ fhir:v "Familial thrombocytosis" ] ] [ fhir:code [ fhir:v "715" ] ; fhir:display [ fhir:v "Glycogen storage disease due to muscle phosphorylase kinase deficiency" ] ] [ fhir:code [ fhir:v "71505" ] ; fhir:display [ fhir:v "Cancer-associated retinopathy" ] ] [ fhir:code [ fhir:v "71517" ] ; fhir:display [ fhir:v "Rapid-onset dystonia-parkinsonism" ] ] [ fhir:code [ fhir:v "71518" ] ; fhir:display [ fhir:v "Benign paroxysmal torticollis of infancy" ] ] [ fhir:code [ fhir:v "71519" ] ; fhir:display [ fhir:v "Psychogenic movement disorders" ] ] [ fhir:code [ fhir:v "71526" ] ; fhir:display [ fhir:v "Obesity due to pro-opiomelanocortin deficiency" ] ] [ fhir:code [ fhir:v "71528" ] ; fhir:display [ fhir:v "Obesity due to prohormone convertase I deficiency" ] ] [ fhir:code [ fhir:v "71529" ] ; fhir:display [ fhir:v "Obesity due to melanocortin 4 receptor deficiency" ] ] [ fhir:code [ fhir:v "716" ] ; fhir:display [ fhir:v "Phenylketonuria" ] ] [ fhir:code [ fhir:v "718" ] ; fhir:display [ fhir:v "Isolated Pierre Robin syndrome" ] ] [ fhir:code [ fhir:v "72" ] ; fhir:display [ fhir:v "Angelman syndrome" ] ] [ fhir:code [ fhir:v "720" ] ; fhir:display [ fhir:v "Pili bifurcati" ] ] [ fhir:code [ fhir:v "721" ] ; fhir:display [ fhir:v "Gray platelet syndrome" ] ] [ fhir:code [ fhir:v "722" ] ; fhir:display [ fhir:v "Hypoplasminogenemia" ] ] [ fhir:code [ fhir:v "723" ] ; fhir:display [ fhir:v "Pneumocystosis" ] ] [ fhir:code [ fhir:v "724" ] ; fhir:display [ fhir:v "Idiopathic acute eosinophilic pneumonia" ] ] [ fhir:code [ fhir:v "725" ] ; fhir:display [ fhir:v "Continuous spikes and waves during sleep" ] ] [ fhir:code [ fhir:v "726" ] ; fhir:display [ fhir:v "Alpers-Huttenlocher syndrome" ] ] [ fhir:code [ fhir:v "727" ] ; fhir:display [ fhir:v "Microscopic polyangiitis" ] ] [ fhir:code [ fhir:v "728" ] ; fhir:display [ fhir:v "Relapsing polychondritis" ] ] [ fhir:code [ fhir:v "729" ] ; fhir:display [ fhir:v "Polycythemia vera" ] ] [ fhir:code [ fhir:v "73" ] ; fhir:display [ fhir:v "Gorham-Stout disease" ] ] [ fhir:code [ fhir:v "730" ] ; fhir:display [ fhir:v "Autosomal dominant polycystic kidney disease" ] ] [ fhir:code [ fhir:v "731" ] ; fhir:display [ fhir:v "Autosomal recessive polycystic kidney disease" ] ] [ fhir:code [ fhir:v "732" ] ; fhir:display [ fhir:v "Polymyositis" ] ] [ fhir:code [ fhir:v "73223" ] ; fhir:display [ fhir:v "Global developmental delay-osteopenia-ectodermal defect syndrome" ] ] [ fhir:code [ fhir:v "73224" ] ; fhir:display [ fhir:v "Kidney tubulopathy-dilated cardiomyopathy syndrome" ] ] [ fhir:code [ fhir:v "73229" ] ; fhir:display [ fhir:v "HANAC syndrome" ] ] [ fhir:code [ fhir:v "73230" ] ; fhir:display [ fhir:v "Ossification anomalies-psychomotor developmental delay syndrome" ] ] [ fhir:code [ fhir:v "73245" ] ; fhir:display [ fhir:v "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" ] ] [ fhir:code [ fhir:v "73246" ] ; fhir:display [ fhir:v "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "73256" ] ; fhir:display [ fhir:v "Central neurocytoma" ] ] [ fhir:code [ fhir:v "73260" ] ; fhir:display [ fhir:v "Paracoccidioidomycosis" ] ] [ fhir:code [ fhir:v "73263" ] ; fhir:display [ fhir:v "Zygomycosis" ] ] [ fhir:code [ fhir:v "73267" ] ; fhir:display [ fhir:v "Non-24-hour sleep-wake syndrome" ] ] [ fhir:code [ fhir:v "73271" ] ; fhir:display [ fhir:v "Bleeding diathesis due to a collagen receptor defect" ] ] [ fhir:code [ fhir:v "73272" ] ; fhir:display [ fhir:v "Growth delay due to insulin-like growth factor type 1 deficiency" ] ] [ fhir:code [ fhir:v "73273" ] ; fhir:display [ fhir:v "Growth delay due to insulin-like growth factor I resistance" ] ] [ fhir:code [ fhir:v "733" ] ; fhir:display [ fhir:v "Familial adenomatous polyposis" ] ] [ fhir:code [ fhir:v "734" ] ; fhir:display [ fhir:v "Alpha delta granule deficiency" ] ] [ fhir:code [ fhir:v "73423" ] ; fhir:display [ fhir:v "Acute ackee fruit intoxication" ] ] [ fhir:code [ fhir:v "735" ] ; fhir:display [ fhir:v "Porokeratosis of Mibelli" ] ] [ fhir:code [ fhir:v "737" ] ; fhir:display [ fhir:v "Porokeratosis plantaris palmaris et disseminata" ] ] [ fhir:code [ fhir:v "739" ] ; fhir:display [ fhir:v "Prader-Willi syndrome" ] ] [ fhir:code [ fhir:v "74" ] ; fhir:display [ fhir:v "Angiostrongyliasis" ] ] [ fhir:code [ fhir:v "740" ] ; fhir:display [ fhir:v "Hutchinson-Gilford progeria syndrome" ] ] [ fhir:code [ fhir:v "741" ] ; fhir:display [ fhir:v "Familial mitral valve prolapse" ] ] [ fhir:code [ fhir:v "742" ] ; fhir:display [ fhir:v "Prolidase deficiency" ] ] [ fhir:code [ fhir:v "743" ] ; fhir:display [ fhir:v "Severe hereditary thrombophilia due to congenital protein S deficiency" ] ] [ fhir:code [ fhir:v "744" ] ; fhir:display [ fhir:v "Proteus syndrome" ] ] [ fhir:code [ fhir:v "745" ] ; fhir:display [ fhir:v "Severe hereditary thrombophilia due to congenital protein C deficiency" ] ] [ fhir:code [ fhir:v "746" ] ; fhir:display [ fhir:v "Mitochondrial trifunctional protein deficiency" ] ] [ fhir:code [ fhir:v "747" ] ; fhir:display [ fhir:v "Autoimmune pulmonary alveolar proteinosis" ] ] [ fhir:code [ fhir:v "749" ] ; fhir:display [ fhir:v "Congenital prekallikrein deficiency" ] ] [ fhir:code [ fhir:v "750" ] ; fhir:display [ fhir:v "Pseudoachondroplasia" ] ] [ fhir:code [ fhir:v "752" ] ; fhir:display [ fhir:v "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" ] ] [ fhir:code [ fhir:v "75233" ] ; fhir:display [ fhir:v "Wolman disease" ] ] [ fhir:code [ fhir:v "75234" ] ; fhir:display [ fhir:v "Cholesteryl ester storage disease" ] ] [ fhir:code [ fhir:v "75249" ] ; fhir:display [ fhir:v "Familial isolated restrictive cardiomyopathy" ] ] [ fhir:code [ fhir:v "753" ] ; fhir:display [ fhir:v "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency" ] ] [ fhir:code [ fhir:v "75325" ] ; fhir:display [ fhir:v "Osteosclerosis-ichthyosis-premature ovarian failure syndrome" ] ] [ fhir:code [ fhir:v "75326" ] ; fhir:display [ fhir:v "Retinal arterial tortuosity" ] ] [ fhir:code [ fhir:v "75327" ] ; fhir:display [ fhir:v "North Carolina macular dystrophy" ] ] [ fhir:code [ fhir:v "75373" ] ; fhir:display [ fhir:v "Progressive bifocal chorioretinal atrophy" ] ] [ fhir:code [ fhir:v "75374" ] ; fhir:display [ fhir:v "Bradyopsia" ] ] [ fhir:code [ fhir:v "75376" ] ; fhir:display [ fhir:v "Familial drusen" ] ] [ fhir:code [ fhir:v "75377" ] ; fhir:display [ fhir:v "Central areolar choroidal dystrophy" ] ] [ fhir:code [ fhir:v "75378" ] ; fhir:display [ fhir:v "Oligocone trichromacy" ] ] [ fhir:code [ fhir:v "75381" ] ; fhir:display [ fhir:v "Cystoid macular dystrophy" ] ] [ fhir:code [ fhir:v "75382" ] ; fhir:display [ fhir:v "Oguchi disease" ] ] [ fhir:code [ fhir:v "75389" ] ; fhir:display [ fhir:v "Brain malformation-congenital heart disease-postaxial polydactyly syndrome" ] ] [ fhir:code [ fhir:v "75391" ] ; fhir:display [ fhir:v "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" ] ] [ fhir:code [ fhir:v "75392" ] ; fhir:display [ fhir:v "Periodontal Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "75496" ] ; fhir:display [ fhir:v "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "75497" ] ; fhir:display [ fhir:v "X-linked Ehlers-Danlos syndrome" ] ] [ fhir:code [ fhir:v "755" ] ; fhir:display [ fhir:v "Leydig cell hypoplasia" ] ] [ fhir:code [ fhir:v "75508" ] ; fhir:display [ fhir:v "Angioosteohypotrophic syndrome" ] ] [ fhir:code [ fhir:v "75563" ] ; fhir:display [ fhir:v "X-linked sideroblastic anemia" ] ] [ fhir:code [ fhir:v "75564" ] ; fhir:display [ fhir:v "Acquired idiopathic sideroblastic anemia" ] ] [ fhir:code [ fhir:v "75565" ] ; fhir:display [ fhir:v "Tropical endomyocardial fibrosis" ] ] [ fhir:code [ fhir:v "75566" ] ; fhir:display [ fhir:v "Loeffler endocarditis" ] ] [ fhir:code [ fhir:v "75567" ] ; fhir:display [ fhir:v "Primary progressive freezing gait" ] ] [ fhir:code [ fhir:v "756" ] ; fhir:display [ fhir:v "Pseudohypoaldosteronism type 1" ] ] [ fhir:code [ fhir:v "757" ] ; fhir:display [ fhir:v "Pseudohypoaldosteronism type 2" ] ] [ fhir:code [ fhir:v "758" ] ; fhir:display [ fhir:v "Pseudoxanthoma elasticum" ] ] [ fhir:code [ fhir:v "75840" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy, Ullrich type" ] ] [ fhir:code [ fhir:v "75857" ] ; fhir:display [ fhir:v "6q terminal deletion syndrome" ] ] [ fhir:code [ fhir:v "75858" ] ; fhir:display [ fhir:v "MORM syndrome" ] ] [ fhir:code [ fhir:v "76" ] ; fhir:display [ fhir:v "Strongyloidiasis" ] ] [ fhir:code [ fhir:v "760" ] ; fhir:display [ fhir:v "Purine nucleoside phosphorylase deficiency" ] ] [ fhir:code [ fhir:v "761" ] ; fhir:display [ fhir:v "Immunoglobulin A vasculitis" ] ] [ fhir:code [ fhir:v "763" ] ; fhir:display [ fhir:v "Pycnodysostosis" ] ] [ fhir:code [ fhir:v "764" ] ; fhir:display [ fhir:v "Pyomyositis" ] ] [ fhir:code [ fhir:v "765" ] ; fhir:display [ fhir:v "Pyruvate dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "766" ] ; fhir:display [ fhir:v "Hemolytic anemia due to red cell pyruvate kinase deficiency" ] ] [ fhir:code [ fhir:v "767" ] ; fhir:display [ fhir:v "Polyarteritis nodosa" ] ] [ fhir:code [ fhir:v "769" ] ; fhir:display [ fhir:v "Rabson-Mendenhall syndrome" ] ] [ fhir:code [ fhir:v "770" ] ; fhir:display [ fhir:v "Rabies" ] ] [ fhir:code [ fhir:v "772" ] ; fhir:display [ fhir:v "Infantile Refsum disease" ] ] [ fhir:code [ fhir:v "77258" ] ; fhir:display [ fhir:v "Trichorhinophalangeal syndrome type 1" ] ] [ fhir:code [ fhir:v "77259" ] ; fhir:display [ fhir:v "Gaucher disease type 1" ] ] [ fhir:code [ fhir:v "77260" ] ; fhir:display [ fhir:v "Gaucher disease type 2" ] ] [ fhir:code [ fhir:v "77261" ] ; fhir:display [ fhir:v "Gaucher disease type 3" ] ] [ fhir:code [ fhir:v "77292" ] ; fhir:display [ fhir:v "Infantile neurovisceral acid sphingomyelinase deficiency" ] ] [ fhir:code [ fhir:v "77293" ] ; fhir:display [ fhir:v "Chronic visceral acid sphingomyelinase deficiency" ] ] [ fhir:code [ fhir:v "77295" ] ; fhir:display [ fhir:v "Odontoleukodystrophy" ] ] [ fhir:code [ fhir:v "77296" ] ; fhir:display [ fhir:v "Morgagni-Stewart-Morel syndrome" ] ] [ fhir:code [ fhir:v "77297" ] ; fhir:display [ fhir:v "Majeed syndrome" ] ] [ fhir:code [ fhir:v "77298" ] ; fhir:display [ fhir:v "Anophthalmia/microphthalmia-esophageal atresia syndrome" ] ] [ fhir:code [ fhir:v "77299" ] ; fhir:display [ fhir:v "Microphthalmia-brain atrophy syndrome" ] ] [ fhir:code [ fhir:v "773" ] ; fhir:display [ fhir:v "Refsum disease" ] ] [ fhir:code [ fhir:v "77300" ] ; fhir:display [ fhir:v "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome" ] ] [ fhir:code [ fhir:v "77301" ] ; fhir:display [ fhir:v "Monosomy 9q22.3" ] ] [ fhir:code [ fhir:v "774" ] ; fhir:display [ fhir:v "Hereditary hemorrhagic telangiectasia" ] ] [ fhir:code [ fhir:v "776" ] ; fhir:display [ fhir:v "Lujan-Fryns syndrome" ] ] [ fhir:code [ fhir:v "777" ] ; fhir:display [ fhir:v "X-linked non-syndromic intellectual disability" ] ] [ fhir:code [ fhir:v "778" ] ; fhir:display [ fhir:v "Rett syndrome" ] ] [ fhir:code [ fhir:v "779" ] ; fhir:display [ fhir:v "Reynolds syndrome" ] ] [ fhir:code [ fhir:v "78" ] ; fhir:display [ fhir:v "Ankylostomiasis" ] ] [ fhir:code [ fhir:v "780" ] ; fhir:display [ fhir:v "Rhabdomyosarcoma" ] ] [ fhir:code [ fhir:v "781" ] ; fhir:display [ fhir:v "Q fever" ] ] [ fhir:code [ fhir:v "782" ] ; fhir:display [ fhir:v "Axenfeld-Rieger syndrome" ] ] [ fhir:code [ fhir:v "783" ] ; fhir:display [ fhir:v "Rubinstein-Taybi syndrome" ] ] [ fhir:code [ fhir:v "785" ] ; fhir:display [ fhir:v "Estrogen resistance syndrome" ] ] [ fhir:code [ fhir:v "786" ] ; fhir:display [ fhir:v "Generalized glucocorticoid resistance syndrome" ] ] [ fhir:code [ fhir:v "79" ] ; fhir:display [ fhir:v "Congenital alpha2-antiplasmin deficiency" ] ] [ fhir:code [ fhir:v "790" ] ; fhir:display [ fhir:v "Retinoblastoma" ] ] [ fhir:code [ fhir:v "79076" ] ; fhir:display [ fhir:v "Juvenile polyposis of infancy" ] ] [ fhir:code [ fhir:v "79078" ] ; fhir:display [ fhir:v "IgG4-related dacryoadenitis and sialadenitis" ] ] [ fhir:code [ fhir:v "79083" ] ; fhir:display [ fhir:v "PPARG-related familial partial lipodystrophy" ] ] [ fhir:code [ fhir:v "79084" ] ; fhir:display [ fhir:v "Familial partial lipodystrophy, Köbberling type" ] ] [ fhir:code [ fhir:v "79085" ] ; fhir:display [ fhir:v "AKT2-related familial partial lipodystrophy" ] ] [ fhir:code [ fhir:v "79086" ] ; fhir:display [ fhir:v "Acquired generalized lipodystrophy" ] ] [ fhir:code [ fhir:v "79087" ] ; fhir:display [ fhir:v "Acquired partial lipodystrophy" ] ] [ fhir:code [ fhir:v "79091" ] ; fhir:display [ fhir:v "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" ] ] [ fhir:code [ fhir:v "79093" ] ; fhir:display [ fhir:v "Foix-Alajouanine syndrome" ] ] [ fhir:code [ fhir:v "79094" ] ; fhir:display [ fhir:v "Grange syndrome" ] ] [ fhir:code [ fhir:v "79095" ] ; fhir:display [ fhir:v "Congenital bile acid synthesis defect type 4" ] ] [ fhir:code [ fhir:v "79096" ] ; fhir:display [ fhir:v "Pyridoxal phosphate-responsive seizures" ] ] [ fhir:code [ fhir:v "79097" ] ; fhir:display [ fhir:v "Folinic acid-responsive seizures" ] ] [ fhir:code [ fhir:v "79098" ] ; fhir:display [ fhir:v "Sympathetic ophthalmia" ] ] [ fhir:code [ fhir:v "79099" ] ; fhir:display [ fhir:v "Interstitial granulomatous dermatitis with arthritis" ] ] [ fhir:code [ fhir:v "791" ] ; fhir:display [ fhir:v "Retinitis pigmentosa" ] ] [ fhir:code [ fhir:v "79100" ] ; fhir:display [ fhir:v "Atrophoderma vermiculata" ] ] [ fhir:code [ fhir:v "79101" ] ; fhir:display [ fhir:v "Hyperprolinemia type 2" ] ] [ fhir:code [ fhir:v "79102" ] ; fhir:display [ fhir:v "Thyrotoxic periodic paralysis" ] ] [ fhir:code [ fhir:v "79105" ] ; fhir:display [ fhir:v "Myxofibrosarcoma" ] ] [ fhir:code [ fhir:v "79106" ] ; fhir:display [ fhir:v "Eiken syndrome" ] ] [ fhir:code [ fhir:v "79107" ] ; fhir:display [ fhir:v "Developmental malformations-deafness-dystonia syndrome" ] ] [ fhir:code [ fhir:v "79113" ] ; fhir:display [ fhir:v "Mandibulofacial dysostosis-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "79118" ] ; fhir:display [ fhir:v "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" ] ] [ fhir:code [ fhir:v "79124" ] ; fhir:display [ fhir:v "Hepatic veno-occlusive disease-immunodeficiency syndrome" ] ] [ fhir:code [ fhir:v "79126" ] ; fhir:display [ fhir:v "Acute interstitial pneumonia" ] ] [ fhir:code [ fhir:v "79127" ] ; fhir:display [ fhir:v "Respiratory bronchiolitis-interstitial lung disease syndrome" ] ] [ fhir:code [ fhir:v "79128" ] ; fhir:display [ fhir:v "Lymphoid interstitial pneumonia" ] ] [ fhir:code [ fhir:v "79129" ] ; fhir:display [ fhir:v "Trichodysplasia-amelogenesis imperfecta syndrome" ] ] [ fhir:code [ fhir:v "79133" ] ; fhir:display [ fhir:v "Focal facial dermal dysplasia type I" ] ] [ fhir:code [ fhir:v "79134" ] ; fhir:display [ fhir:v "DEND syndrome" ] ] [ fhir:code [ fhir:v "79135" ] ; fhir:display [ fhir:v "Episodic ataxia type 3" ] ] [ fhir:code [ fhir:v "79136" ] ; fhir:display [ fhir:v "Episodic ataxia type 4" ] ] [ fhir:code [ fhir:v "79137" ] ; fhir:display [ fhir:v "Generalized epilepsy-paroxysmal dyskinesia syndrome" ] ] [ fhir:code [ fhir:v "79138" ] ; fhir:display [ fhir:v "Bickerstaff brainstem encephalitis" ] ] [ fhir:code [ fhir:v "79139" ] ; fhir:display [ fhir:v "Japanese encephalitis" ] ] [ fhir:code [ fhir:v "79140" ] ; fhir:display [ fhir:v "Cutaneous neuroendocrine carcinoma" ] ] [ fhir:code [ fhir:v "79141" ] ; fhir:display [ fhir:v "Hereditary painful callosities" ] ] [ fhir:code [ fhir:v "79143" ] ; fhir:display [ fhir:v "Isolated congenital anonychia" ] ] [ fhir:code [ fhir:v "79144" ] ; fhir:display [ fhir:v "Isolated congenital onychodysplasia" ] ] [ fhir:code [ fhir:v "79145" ] ; fhir:display [ fhir:v "Dowling-Degos disease" ] ] [ fhir:code [ fhir:v "79146" ] ; fhir:display [ fhir:v "Familial progressive hyperpigmentation" ] ] [ fhir:code [ fhir:v "79147" ] ; fhir:display [ fhir:v "Familial reactive perforating collagenosis" ] ] [ fhir:code [ fhir:v "79148" ] ; fhir:display [ fhir:v "Elastosis perforans serpiginosa" ] ] [ fhir:code [ fhir:v "79149" ] ; fhir:display [ fhir:v "Dermochondrocorneal dystrophy" ] ] [ fhir:code [ fhir:v "79150" ] ; fhir:display [ fhir:v "Linear and whorled nevoid hypermelanosis" ] ] [ fhir:code [ fhir:v "79151" ] ; fhir:display [ fhir:v "Acrokeratosis verruciformis of Hopf" ] ] [ fhir:code [ fhir:v "79152" ] ; fhir:display [ fhir:v "Disseminated superficial actinic porokeratosis" ] ] [ fhir:code [ fhir:v "79153" ] ; fhir:display [ fhir:v "Idiopathic trachyonychia" ] ] [ fhir:code [ fhir:v "79154" ] ; fhir:display [ fhir:v "2-aminoadipic 2-oxoadipic aciduria" ] ] [ fhir:code [ fhir:v "79155" ] ; fhir:display [ fhir:v "Hydroxykynureninuria" ] ] [ fhir:code [ fhir:v "79156" ] ; fhir:display [ fhir:v "Seizures-intellectual disability due to hydroxylysinuria syndrome" ] ] [ fhir:code [ fhir:v "79157" ] ; fhir:display [ fhir:v "2-methylbutyryl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "79159" ] ; fhir:display [ fhir:v "Isobutyryl-CoA dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "792" ] ; fhir:display [ fhir:v "X-linked retinoschisis" ] ] [ fhir:code [ fhir:v "79230" ] ; fhir:display [ fhir:v "HJV or HAMP-related hemochromatosis" ] ] [ fhir:code [ fhir:v "79233" ] ; fhir:display [ fhir:v "Hypoxanthine guanine phosphoribosyltransferase partial deficiency" ] ] [ fhir:code [ fhir:v "79234" ] ; fhir:display [ fhir:v "Crigler-Najjar syndrome type 1" ] ] [ fhir:code [ fhir:v "79235" ] ; fhir:display [ fhir:v "Crigler-Najjar syndrome type 2" ] ] [ fhir:code [ fhir:v "79237" ] ; fhir:display [ fhir:v "Galactokinase deficiency" ] ] [ fhir:code [ fhir:v "79238" ] ; fhir:display [ fhir:v "Galactose epimerase deficiency" ] ] [ fhir:code [ fhir:v "79239" ] ; fhir:display [ fhir:v "Classic galactosemia" ] ] [ fhir:code [ fhir:v "79240" ] ; fhir:display [ fhir:v "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" ] ] [ fhir:code [ fhir:v "79241" ] ; fhir:display [ fhir:v "Biotinidase deficiency" ] ] [ fhir:code [ fhir:v "79242" ] ; fhir:display [ fhir:v "Holocarboxylase synthetase deficiency" ] ] [ fhir:code [ fhir:v "79243" ] ; fhir:display [ fhir:v "Pyruvate dehydrogenase E1-alpha deficiency" ] ] [ fhir:code [ fhir:v "79244" ] ; fhir:display [ fhir:v "Pyruvate dehydrogenase E2 deficiency" ] ] [ fhir:code [ fhir:v "79246" ] ; fhir:display [ fhir:v "Pyruvate dehydrogenase phosphatase deficiency" ] ] [ fhir:code [ fhir:v "79253" ] ; fhir:display [ fhir:v "Mild phenylketonuria" ] ] [ fhir:code [ fhir:v "79254" ] ; fhir:display [ fhir:v "Classic phenylketonuria" ] ] [ fhir:code [ fhir:v "79255" ] ; fhir:display [ fhir:v "GM1 gangliosidosis type 1" ] ] [ fhir:code [ fhir:v "79256" ] ; fhir:display [ fhir:v "GM1 gangliosidosis type 2" ] ] [ fhir:code [ fhir:v "79257" ] ; fhir:display [ fhir:v "GM1 gangliosidosis type 3" ] ] [ fhir:code [ fhir:v "79258" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia" ] ] [ fhir:code [ fhir:v "79259" ] ; fhir:display [ fhir:v "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib" ] ] [ fhir:code [ fhir:v "79262" ] ; fhir:display [ fhir:v "Adult neuronal ceroid lipofuscinosis" ] ] [ fhir:code [ fhir:v "79263" ] ; fhir:display [ fhir:v "Infantile neuronal ceroid lipofuscinosis" ] ] [ fhir:code [ fhir:v "79264" ] ; fhir:display [ fhir:v "Juvenile neuronal ceroid lipofuscinosis" ] ] [ fhir:code [ fhir:v "79269" ] ; fhir:display [ fhir:v "Sanfilippo syndrome type A" ] ] [ fhir:code [ fhir:v "79270" ] ; fhir:display [ fhir:v "Sanfilippo syndrome type B" ] ] [ fhir:code [ fhir:v "79271" ] ; fhir:display [ fhir:v "Sanfilippo syndrome type C" ] ] [ fhir:code [ fhir:v "79272" ] ; fhir:display [ fhir:v "Sanfilippo syndrome type D" ] ] [ fhir:code [ fhir:v "79273" ] ; fhir:display [ fhir:v "Hereditary coproporphyria" ] ] [ fhir:code [ fhir:v "79276" ] ; fhir:display [ fhir:v "Acute intermittent porphyria" ] ] [ fhir:code [ fhir:v "79277" ] ; fhir:display [ fhir:v "Congenital erythropoietic porphyria" ] ] [ fhir:code [ fhir:v "79278" ] ; fhir:display [ fhir:v "Autosomal erythropoietic protoporphyria" ] ] [ fhir:code [ fhir:v "79279" ] ; fhir:display [ fhir:v "Alpha-N-acetylgalactosaminidase deficiency type 1" ] ] [ fhir:code [ fhir:v "79280" ] ; fhir:display [ fhir:v "Alpha-N-acetylgalactosaminidase deficiency type 2" ] ] [ fhir:code [ fhir:v "79281" ] ; fhir:display [ fhir:v "Alpha-N-acetylgalactosaminidase deficiency type 3" ] ] [ fhir:code [ fhir:v "79282" ] ; fhir:display [ fhir:v "Methylmalonic acidemia with homocystinuria, type cblC" ] ] [ fhir:code [ fhir:v "79283" ] ; fhir:display [ fhir:v "Methylmalonic acidemia with homocystinuria, type cblD" ] ] [ fhir:code [ fhir:v "79284" ] ; fhir:display [ fhir:v "Methylmalonic acidemia with homocystinuria type cblF" ] ] [ fhir:code [ fhir:v "79292" ] ; fhir:display [ fhir:v "Fish-eye disease" ] ] [ fhir:code [ fhir:v "79293" ] ; fhir:display [ fhir:v "Familial LCAT deficiency" ] ] [ fhir:code [ fhir:v "79299" ] ; fhir:display [ fhir:v "Congenital glucokinase-related hyperinsulinism" ] ] [ fhir:code [ fhir:v "793" ] ; fhir:display [ fhir:v "SAPHO syndrome" ] ] [ fhir:code [ fhir:v "79301" ] ; fhir:display [ fhir:v "Congenital bile acid synthesis defect type 1" ] ] [ fhir:code [ fhir:v "79302" ] ; fhir:display [ fhir:v "Congenital bile acid synthesis defect type 3" ] ] [ fhir:code [ fhir:v "79303" ] ; fhir:display [ fhir:v "Congenital bile acid synthesis defect type 2" ] ] [ fhir:code [ fhir:v "79304" ] ; fhir:display [ fhir:v "Progressive familial intrahepatic cholestasis type 2" ] ] [ fhir:code [ fhir:v "79305" ] ; fhir:display [ fhir:v "Progressive familial intrahepatic cholestasis type 3" ] ] [ fhir:code [ fhir:v "79306" ] ; fhir:display [ fhir:v "Progressive familial intrahepatic cholestasis type 1" ] ] [ fhir:code [ fhir:v "79310" ] ; fhir:display [ fhir:v "Vitamin B12-responsive methylmalonic acidemia type cblA" ] ] [ fhir:code [ fhir:v "79311" ] ; fhir:display [ fhir:v "Vitamin B12-responsive methylmalonic acidemia type cblB" ] ] [ fhir:code [ fhir:v "79312" ] ; fhir:display [ fhir:v "Vitamin B12-unresponsive methylmalonic acidemia type mut-" ] ] [ fhir:code [ fhir:v "79314" ] ; fhir:display [ fhir:v "L-2-hydroxyglutaric aciduria" ] ] [ fhir:code [ fhir:v "79315" ] ; fhir:display [ fhir:v "D-2-hydroxyglutaric aciduria" ] ] [ fhir:code [ fhir:v "79318" ] ; fhir:display [ fhir:v "PMM2-CDG" ] ] [ fhir:code [ fhir:v "79319" ] ; fhir:display [ fhir:v "MPI-CDG" ] ] [ fhir:code [ fhir:v "79320" ] ; fhir:display [ fhir:v "ALG6-CDG" ] ] [ fhir:code [ fhir:v "79321" ] ; fhir:display [ fhir:v "ALG3-CDG" ] ] [ fhir:code [ fhir:v "79322" ] ; fhir:display [ fhir:v "DPM1-CDG" ] ] [ fhir:code [ fhir:v "79323" ] ; fhir:display [ fhir:v "MPDU1-CDG" ] ] [ fhir:code [ fhir:v "79324" ] ; fhir:display [ fhir:v "ALG12-CDG" ] ] [ fhir:code [ fhir:v "79325" ] ; fhir:display [ fhir:v "ALG8-CDG" ] ] [ fhir:code [ fhir:v "79326" ] ; fhir:display [ fhir:v "ALG2-CDG" ] ] [ fhir:code [ fhir:v "79327" ] ; fhir:display [ fhir:v "ALG1-CDG" ] ] [ fhir:code [ fhir:v "79328" ] ; fhir:display [ fhir:v "ALG9-CDG" ] ] [ fhir:code [ fhir:v "79329" ] ; fhir:display [ fhir:v "MGAT2-CDG" ] ] [ fhir:code [ fhir:v "79330" ] ; fhir:display [ fhir:v "MOGS-CDG" ] ] [ fhir:code [ fhir:v "79332" ] ; fhir:display [ fhir:v "B4GALT1-CDG" ] ] [ fhir:code [ fhir:v "79333" ] ; fhir:display [ fhir:v "COG7-CDG" ] ] [ fhir:code [ fhir:v "79345" ] ; fhir:display [ fhir:v "Brachytelephalangic chondrodysplasia punctata" ] ] [ fhir:code [ fhir:v "79346" ] ; fhir:display [ fhir:v "Chondrodysplasia punctata, tibial-metacarpal type" ] ] [ fhir:code [ fhir:v "79347" ] ; fhir:display [ fhir:v "Chondrodysplasia punctata, Toriello type" ] ] [ fhir:code [ fhir:v "79350" ] ; fhir:display [ fhir:v "3-phosphoserine phosphatase deficiency, infantile/juvenile form" ] ] [ fhir:code [ fhir:v "79351" ] ; fhir:display [ fhir:v "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" ] ] [ fhir:code [ fhir:v "79394" ] ; fhir:display [ fhir:v "Congenital ichthyosiform erythroderma" ] ] [ fhir:code [ fhir:v "79395" ] ; fhir:display [ fhir:v "Keratoderma hereditarium mutilans with ichthyosis" ] ] [ fhir:code [ fhir:v "79396" ] ; fhir:display [ fhir:v "Autosomal dominant generalized epidermolysis bullosa simplex, severe form" ] ] [ fhir:code [ fhir:v "79397" ] ; fhir:display [ fhir:v "Epidermolysis bullosa simplex with mottled pigmentation" ] ] [ fhir:code [ fhir:v "79399" ] ; fhir:display [ fhir:v "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form" ] ] [ fhir:code [ fhir:v "794" ] ; fhir:display [ fhir:v "Saethre-Chotzen syndrome" ] ] [ fhir:code [ fhir:v "79400" ] ; fhir:display [ fhir:v "Localized epidermolysis bullosa simplex" ] ] [ fhir:code [ fhir:v "79401" ] ; fhir:display [ fhir:v "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement" ] ] [ fhir:code [ fhir:v "79402" ] ; fhir:display [ fhir:v "Intermediate generalized junctional epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "79403" ] ; fhir:display [ fhir:v "Junctional epidermolysis bullosa with pyloric atresia" ] ] [ fhir:code [ fhir:v "79404" ] ; fhir:display [ fhir:v "Severe generalized junctional epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "79405" ] ; fhir:display [ fhir:v "Junctional epidermolysis bullosa inversa" ] ] [ fhir:code [ fhir:v "79406" ] ; fhir:display [ fhir:v "Late-onset junctional epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "79408" ] ; fhir:display [ fhir:v "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form" ] ] [ fhir:code [ fhir:v "79409" ] ; fhir:display [ fhir:v "Recessive dystrophic epidermolysis bullosa inversa" ] ] [ fhir:code [ fhir:v "79410" ] ; fhir:display [ fhir:v "Localized dystrophic epidermolysis bullosa, pretibial form" ] ] [ fhir:code [ fhir:v "79411" ] ; fhir:display [ fhir:v "Self-improving dystrophic epidermolysis bullosa" ] ] [ fhir:code [ fhir:v "79414" ] ; fhir:display [ fhir:v "Woolly hair nevus" ] ] [ fhir:code [ fhir:v "79430" ] ; fhir:display [ fhir:v "Hermansky-Pudlak syndrome" ] ] [ fhir:code [ fhir:v "79431" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 1A" ] ] [ fhir:code [ fhir:v "79432" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 2" ] ] [ fhir:code [ fhir:v "79433" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 3" ] ] [ fhir:code [ fhir:v "79434" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 1B" ] ] [ fhir:code [ fhir:v "79435" ] ; fhir:display [ fhir:v "Oculocutaneous albinism type 4" ] ] [ fhir:code [ fhir:v "79443" ] ; fhir:display [ fhir:v "Pseudohypoparathyroidism type 1A" ] ] [ fhir:code [ fhir:v "79444" ] ; fhir:display [ fhir:v "Pseudohypoparathyroidism type 1C" ] ] [ fhir:code [ fhir:v "79445" ] ; fhir:display [ fhir:v "Pseudopseudohypoparathyroidism" ] ] [ fhir:code [ fhir:v "79447" ] ; fhir:display [ fhir:v "X-linked lethal multiple pterygium syndrome" ] ] [ fhir:code [ fhir:v "79452" ] ; fhir:display [ fhir:v "Milroy disease" ] ] [ fhir:code [ fhir:v "79455" ] ; fhir:display [ fhir:v "Cutaneous mastocytoma" ] ] [ fhir:code [ fhir:v "79456" ] ; fhir:display [ fhir:v "Diffuse cutaneous mastocytosis" ] ] [ fhir:code [ fhir:v "79457" ] ; fhir:display [ fhir:v "Maculopapular cutaneous mastocytosis" ] ] [ fhir:code [ fhir:v "79466" ] ; fhir:display [ fhir:v "Inflammatory linear verrucous epidermal nevus" ] ] [ fhir:code [ fhir:v "79467" ] ; fhir:display [ fhir:v "Verrucous nevus" ] ] [ fhir:code [ fhir:v "79468" ] ; fhir:display [ fhir:v "Acanthokeratolytic verrucous nevus" ] ] [ fhir:code [ fhir:v "79473" ] ; fhir:display [ fhir:v "Porphyria variegata" ] ] [ fhir:code [ fhir:v "79474" ] ; fhir:display [ fhir:v "Atypical Werner syndrome" ] ] [ fhir:code [ fhir:v "79476" ] ; fhir:display [ fhir:v "Griscelli syndrome type 1" ] ] [ fhir:code [ fhir:v "79477" ] ; fhir:display [ fhir:v "Griscelli syndrome type 2" ] ] [ fhir:code [ fhir:v "79478" ] ; fhir:display [ fhir:v "Griscelli syndrome type 3" ] ] [ fhir:code [ fhir:v "79479" ] ; fhir:display [ fhir:v "Pemphigus vegetans" ] ] [ fhir:code [ fhir:v "79480" ] ; fhir:display [ fhir:v "Pemphigus erythematosus" ] ] [ fhir:code [ fhir:v "79481" ] ; fhir:display [ fhir:v "Pemphigus foliaceus" ] ] [ fhir:code [ fhir:v "79483" ] ; fhir:display [ fhir:v "Phakomatosis cesioflammea" ] ] [ fhir:code [ fhir:v "79484" ] ; fhir:display [ fhir:v "Phakomatosis cesiomarmorata" ] ] [ fhir:code [ fhir:v "79485" ] ; fhir:display [ fhir:v "Phakomatosis spilorosea" ] ] [ fhir:code [ fhir:v "79489" ] ; fhir:display [ fhir:v "Macrocystic lymphatic malformation" ] ] [ fhir:code [ fhir:v "79490" ] ; fhir:display [ fhir:v "Microcystic lymphatic malformation" ] ] [ fhir:code [ fhir:v "79492" ] ; fhir:display [ fhir:v "Pili gemini" ] ] [ fhir:code [ fhir:v "79493" ] ; fhir:display [ fhir:v "Brooke-Spiegler syndrome" ] ] [ fhir:code [ fhir:v "79495" ] ; fhir:display [ fhir:v "X-linked congenital generalized hypertrichosis" ] ] [ fhir:code [ fhir:v "79499" ] ; fhir:display [ fhir:v "Autosomal dominant deafness-onychodystrophy syndrome" ] ] [ fhir:code [ fhir:v "79500" ] ; fhir:display [ fhir:v "DOORS syndrome" ] ] [ fhir:code [ fhir:v "79501" ] ; fhir:display [ fhir:v "Punctate palmoplantar keratoderma type 1" ] ] [ fhir:code [ fhir:v "79502" ] ; fhir:display [ fhir:v "Punctate palmoplantar keratoderma type 2" ] ] [ fhir:code [ fhir:v "79503" ] ; fhir:display [ fhir:v "Ichthyosis hystrix of Curth-Macklin" ] ] [ fhir:code [ fhir:v "79506" ] ; fhir:display [ fhir:v "Cholesterol-ester transfer protein deficiency" ] ] [ fhir:code [ fhir:v "79507" ] ; fhir:display [ fhir:v "Hypotonia-failure to thrive-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "796" ] ; fhir:display [ fhir:v "Sandhoff disease" ] ] [ fhir:code [ fhir:v "79643" ] ; fhir:display [ fhir:v "Autosomal recessive hyperinsulinism due to SUR1 deficiency" ] ] [ fhir:code [ fhir:v "79644" ] ; fhir:display [ fhir:v "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency" ] ] [ fhir:code [ fhir:v "79651" ] ; fhir:display [ fhir:v "Mild hyperphenylalaninemia" ] ] [ fhir:code [ fhir:v "79665" ] ; fhir:display [ fhir:v "Gardner syndrome" ] ] [ fhir:code [ fhir:v "797" ] ; fhir:display [ fhir:v "Sarcoidosis" ] ] [ fhir:code [ fhir:v "798" ] ; fhir:display [ fhir:v "Schinzel-Giedion syndrome" ] ] [ fhir:code [ fhir:v "799" ] ; fhir:display [ fhir:v "Schizencephaly" ] ] [ fhir:code [ fhir:v "8" ] ; fhir:display [ fhir:v "47,XYY syndrome" ] ] [ fhir:code [ fhir:v "80" ] ; fhir:display [ fhir:v "Antiphospholipid syndrome" ] ] [ fhir:code [ fhir:v "800" ] ; fhir:display [ fhir:v "Schwartz-Jampel syndrome" ] ] [ fhir:code [ fhir:v "803" ] ; fhir:display [ fhir:v "Amyotrophic lateral sclerosis" ] ] [ fhir:code [ fhir:v "805" ] ; fhir:display [ fhir:v "Tuberous sclerosis complex" ] ] [ fhir:code [ fhir:v "806" ] ; fhir:display [ fhir:v "Scott syndrome" ] ] [ fhir:code [ fhir:v "808" ] ; fhir:display [ fhir:v "Seckel syndrome" ] ] [ fhir:code [ fhir:v "809" ] ; fhir:display [ fhir:v "Mixed connective tissue disease" ] ] [ fhir:code [ fhir:v "81" ] ; fhir:display [ fhir:v "Antisynthetase syndrome" ] ] [ fhir:code [ fhir:v "810" ] ; fhir:display [ fhir:v "Shigellosis" ] ] [ fhir:code [ fhir:v "811" ] ; fhir:display [ fhir:v "Shwachman-Diamond syndrome" ] ] [ fhir:code [ fhir:v "812" ] ; fhir:display [ fhir:v "Sialidosis type 1" ] ] [ fhir:code [ fhir:v "813" ] ; fhir:display [ fhir:v "Silver-Russell syndrome" ] ] [ fhir:code [ fhir:v "816" ] ; fhir:display [ fhir:v "Sjögren-Larsson syndrome" ] ] [ fhir:code [ fhir:v "818" ] ; fhir:display [ fhir:v "Smith-Lemli-Opitz syndrome" ] ] [ fhir:code [ fhir:v "819" ] ; fhir:display [ fhir:v "Smith-Magenis syndrome" ] ] [ fhir:code [ fhir:v "82" ] ; fhir:display [ fhir:v "Hereditary thrombophilia due to congenital antithrombin deficiency" ] ] [ fhir:code [ fhir:v "820" ] ; fhir:display [ fhir:v "Sneddon syndrome" ] ] [ fhir:code [ fhir:v "821" ] ; fhir:display [ fhir:v "Sotos syndrome" ] ] [ fhir:code [ fhir:v "822" ] ; fhir:display [ fhir:v "Hereditary spherocytosis" ] ] [ fhir:code [ fhir:v "824" ] ; fhir:display [ fhir:v "Primary myelofibrosis" ] ] [ fhir:code [ fhir:v "826" ] ; fhir:display [ fhir:v "Sporotrichosis" ] ] [ fhir:code [ fhir:v "827" ] ; fhir:display [ fhir:v "Stargardt disease" ] ] [ fhir:code [ fhir:v "828" ] ; fhir:display [ fhir:v "Stickler syndrome" ] ] [ fhir:code [ fhir:v "829" ] ; fhir:display [ fhir:v "Adult-onset Still disease" ] ] [ fhir:code [ fhir:v "83" ] ; fhir:display [ fhir:v "Antley-Bixler syndrome" ] ] [ fhir:code [ fhir:v "831" ] ; fhir:display [ fhir:v "Congenital cervical spinal stenosis" ] ] [ fhir:code [ fhir:v "832" ] ; fhir:display [ fhir:v "Succinyl-CoA:3-oxoacid CoA transferase deficiency" ] ] [ fhir:code [ fhir:v "833" ] ; fhir:display [ fhir:v "Encephalopathy due to sulfite oxidase deficiency" ] ] [ fhir:code [ fhir:v "83311" ] ; fhir:display [ fhir:v "Rocky Mountain spotted fever" ] ] [ fhir:code [ fhir:v "83312" ] ; fhir:display [ fhir:v "Rickettsialpox" ] ] [ fhir:code [ fhir:v "83313" ] ; fhir:display [ fhir:v "Boutonneuse fever" ] ] [ fhir:code [ fhir:v "83314" ] ; fhir:display [ fhir:v "Epidemic typhus" ] ] [ fhir:code [ fhir:v "83315" ] ; fhir:display [ fhir:v "Murine typhus" ] ] [ fhir:code [ fhir:v "83316" ] ; fhir:display [ fhir:v "Pseudotyphus of California" ] ] [ fhir:code [ fhir:v "83317" ] ; fhir:display [ fhir:v "Scrub typhus" ] ] [ fhir:code [ fhir:v "83330" ] ; fhir:display [ fhir:v "Proximal spinal muscular atrophy type 1" ] ] [ fhir:code [ fhir:v "834" ] ; fhir:display [ fhir:v "Free sialic acid storage disease" ] ] [ fhir:code [ fhir:v "83418" ] ; fhir:display [ fhir:v "Proximal spinal muscular atrophy type 2" ] ] [ fhir:code [ fhir:v "83419" ] ; fhir:display [ fhir:v "Proximal spinal muscular atrophy type 3" ] ] [ fhir:code [ fhir:v "83420" ] ; fhir:display [ fhir:v "Proximal spinal muscular atrophy type 4" ] ] [ fhir:code [ fhir:v "83450" ] ; fhir:display [ fhir:v "Regional odontodysplasia" ] ] [ fhir:code [ fhir:v "83451" ] ; fhir:display [ fhir:v "Florid cemento-osseous dysplasia" ] ] [ fhir:code [ fhir:v "83452" ] ; fhir:display [ fhir:v "Complex regional pain syndrome" ] ] [ fhir:code [ fhir:v "83453" ] ; fhir:display [ fhir:v "Vulvovaginal gingival syndrome" ] ] [ fhir:code [ fhir:v "83454" ] ; fhir:display [ fhir:v "Glomuvenous malformation" ] ] [ fhir:code [ fhir:v "83461" ] ; fhir:display [ fhir:v "Congenital primary aphakia" ] ] [ fhir:code [ fhir:v "83463" ] ; fhir:display [ fhir:v "Microtia" ] ] [ fhir:code [ fhir:v "83465" ] ; fhir:display [ fhir:v "Narcolepsy type 2" ] ] [ fhir:code [ fhir:v "83467" ] ; fhir:display [ fhir:v "Morvan syndrome" ] ] [ fhir:code [ fhir:v "83468" ] ; fhir:display [ fhir:v "Solitary bone cyst" ] ] [ fhir:code [ fhir:v "83469" ] ; fhir:display [ fhir:v "Desmoplastic small round cell tumor" ] ] [ fhir:code [ fhir:v "83471" ] ; fhir:display [ fhir:v "T-cell immunodeficiency with thymic aplasia" ] ] [ fhir:code [ fhir:v "83472" ] ; fhir:display [ fhir:v "CAMOS syndrome" ] ] [ fhir:code [ fhir:v "83473" ] ; fhir:display [ fhir:v "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" ] ] [ fhir:code [ fhir:v "83476" ] ; fhir:display [ fhir:v "West-Nile encephalitis" ] ] [ fhir:code [ fhir:v "83482" ] ; fhir:display [ fhir:v "Mycoplasma encephalitis" ] ] [ fhir:code [ fhir:v "83483" ] ; fhir:display [ fhir:v "La Crosse encephalitis" ] ] [ fhir:code [ fhir:v "83484" ] ; fhir:display [ fhir:v "St. Louis encephalitis" ] ] [ fhir:code [ fhir:v "83593" ] ; fhir:display [ fhir:v "Western equine encephalitis" ] ] [ fhir:code [ fhir:v "83594" ] ; fhir:display [ fhir:v "Eastern equine encephalitis" ] ] [ fhir:code [ fhir:v "83595" ] ; fhir:display [ fhir:v "Colorado tick fever" ] ] [ fhir:code [ fhir:v "83597" ] ; fhir:display [ fhir:v "Acute disseminated encephalomyelitis" ] ] [ fhir:code [ fhir:v "83600" ] ; fhir:display [ fhir:v "Encephalitis lethargica" ] ] [ fhir:code [ fhir:v "83601" ] ; fhir:display [ fhir:v "Steroid-responsive encephalopathy associated with autoimmune thyroiditis" ] ] [ fhir:code [ fhir:v "83616" ] ; fhir:display [ fhir:v "Rubella panencephalitis" ] ] [ fhir:code [ fhir:v "83617" ] ; fhir:display [ fhir:v "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome" ] ] [ fhir:code [ fhir:v "83619" ] ; fhir:display [ fhir:v "Macrostomia-preauricular tags-external ophthalmoplegia syndrome" ] ] [ fhir:code [ fhir:v "83620" ] ; fhir:display [ fhir:v "Enteric anendocrinosis" ] ] [ fhir:code [ fhir:v "83628" ] ; fhir:display [ fhir:v "LUMBAR syndrome" ] ] [ fhir:code [ fhir:v "83629" ] ; fhir:display [ fhir:v "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome" ] ] [ fhir:code [ fhir:v "83639" ] ; fhir:display [ fhir:v "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" ] ] [ fhir:code [ fhir:v "83642" ] ; fhir:display [ fhir:v "Microcytic anemia with liver iron overload" ] ] [ fhir:code [ fhir:v "838" ] ; fhir:display [ fhir:v "Susac syndrome" ] ] [ fhir:code [ fhir:v "839" ] ; fhir:display [ fhir:v "Congenital nephrotic syndrome, Finnish type" ] ] [ fhir:code [ fhir:v "84" ] ; fhir:display [ fhir:v "Fanconi anemia" ] ] [ fhir:code [ fhir:v "840" ] ; fhir:display [ fhir:v "Syringocystadenoma papilliferum" ] ] [ fhir:code [ fhir:v "84064" ] ; fhir:display [ fhir:v "Syndromic diarrhea" ] ] [ fhir:code [ fhir:v "84065" ] ; fhir:display [ fhir:v "Idiopathic malabsorption due to bile acid synthesis defects" ] ] [ fhir:code [ fhir:v "84081" ] ; fhir:display [ fhir:v "Senior-Boichis syndrome" ] ] [ fhir:code [ fhir:v "84085" ] ; fhir:display [ fhir:v "Hinman syndrome" ] ] [ fhir:code [ fhir:v "84087" ] ; fhir:display [ fhir:v "Collagen type III glomerulopathy" ] ] [ fhir:code [ fhir:v "84090" ] ; fhir:display [ fhir:v "Fibronectin glomerulopathy" ] ] [ fhir:code [ fhir:v "84093" ] ; fhir:display [ fhir:v "Hereditary thermosensitive neuropathy" ] ] [ fhir:code [ fhir:v "841" ] ; fhir:display [ fhir:v "Sebocystomatosis" ] ] [ fhir:code [ fhir:v "84132" ] ; fhir:display [ fhir:v "Desmin-related myopathy with Mallory body-like inclusions" ] ] [ fhir:code [ fhir:v "84142" ] ; fhir:display [ fhir:v "Isaacs syndrome" ] ] [ fhir:code [ fhir:v "842" ] ; fhir:display [ fhir:v "Testicular seminomatous germ cell tumor" ] ] [ fhir:code [ fhir:v "844" ] ; fhir:display [ fhir:v "Lown-Ganong-Levine syndrome" ] ] [ fhir:code [ fhir:v "845" ] ; fhir:display [ fhir:v "Tay-Sachs disease" ] ] [ fhir:code [ fhir:v "846" ] ; fhir:display [ fhir:v "Alpha-thalassemia" ] ] [ fhir:code [ fhir:v "847" ] ; fhir:display [ fhir:v "Alpha-thalassemia-X-linked intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "848" ] ; fhir:display [ fhir:v "Beta-thalassemia" ] ] [ fhir:code [ fhir:v "849" ] ; fhir:display [ fhir:v "Glanzmann thrombasthenia" ] ] [ fhir:code [ fhir:v "851" ] ; fhir:display [ fhir:v "Paris-Trousseau thrombocytopenia" ] ] [ fhir:code [ fhir:v "85110" ] ; fhir:display [ fhir:v "Familial encephalopathy with neuroserpin inclusion bodies" ] ] [ fhir:code [ fhir:v "85112" ] ; fhir:display [ fhir:v "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome" ] ] [ fhir:code [ fhir:v "85128" ] ; fhir:display [ fhir:v "Bothnia retinal dystrophy" ] ] [ fhir:code [ fhir:v "85136" ] ; fhir:display [ fhir:v "Cystic leukoencephalopathy without megalencephaly" ] ] [ fhir:code [ fhir:v "85138" ] ; fhir:display [ fhir:v "Addison disease" ] ] [ fhir:code [ fhir:v "85146" ] ; fhir:display [ fhir:v "Neurogenic scapuloperoneal syndrome, Kaeser type" ] ] [ fhir:code [ fhir:v "85162" ] ; fhir:display [ fhir:v "Facial onset sensory and motor neuronopathy" ] ] [ fhir:code [ fhir:v "85163" ] ; fhir:display [ fhir:v "Hypomyelination-congenital cataract syndrome" ] ] [ fhir:code [ fhir:v "85164" ] ; fhir:display [ fhir:v "Camptodactyly-tall stature-scoliosis-hearing loss syndrome" ] ] [ fhir:code [ fhir:v "85165" ] ; fhir:display [ fhir:v "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome" ] ] [ fhir:code [ fhir:v "85166" ] ; fhir:display [ fhir:v "Platyspondylic dysplasia, Torrance type" ] ] [ fhir:code [ fhir:v "85167" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" ] ] [ fhir:code [ fhir:v "85168" ] ; fhir:display [ fhir:v "Craniofacial conodysplasia" ] ] [ fhir:code [ fhir:v "85169" ] ; fhir:display [ fhir:v "Familial digital arthropathy-brachydactyly" ] ] [ fhir:code [ fhir:v "85170" ] ; fhir:display [ fhir:v "Mesomelic dysplasia, Savarirayan type" ] ] [ fhir:code [ fhir:v "85172" ] ; fhir:display [ fhir:v "Microcephalic osteodysplastic dysplasia, Saul-Wilson type" ] ] [ fhir:code [ fhir:v "85173" ] ; fhir:display [ fhir:v "IMAGe syndrome" ] ] [ fhir:code [ fhir:v "85174" ] ; fhir:display [ fhir:v "Pseudodiastrophic dysplasia" ] ] [ fhir:code [ fhir:v "85175" ] ; fhir:display [ fhir:v "Astley-Kendall dysplasia" ] ] [ fhir:code [ fhir:v "85179" ] ; fhir:display [ fhir:v "Infantile osteopetrosis with neuroaxonal dysplasia" ] ] [ fhir:code [ fhir:v "85182" ] ; fhir:display [ fhir:v "Diaphyseal medullary stenosis-bone malignancy syndrome" ] ] [ fhir:code [ fhir:v "85184" ] ; fhir:display [ fhir:v "Craniometadiaphyseal dysplasia, wormian bone type" ] ] [ fhir:code [ fhir:v "85186" ] ; fhir:display [ fhir:v "Endosteal sclerosis-cerebellar hypoplasia syndrome" ] ] [ fhir:code [ fhir:v "85188" ] ; fhir:display [ fhir:v "Metaphyseal dysplasia, Braun-Tinschert type" ] ] [ fhir:code [ fhir:v "85191" ] ; fhir:display [ fhir:v "Singleton-Merten dysplasia" ] ] [ fhir:code [ fhir:v "85192" ] ; fhir:display [ fhir:v "Calvarial doughnut lesions-bone fragility syndrome" ] ] [ fhir:code [ fhir:v "85193" ] ; fhir:display [ fhir:v "Idiopathic juvenile osteoporosis" ] ] [ fhir:code [ fhir:v "85194" ] ; fhir:display [ fhir:v "Spondylo-ocular syndrome" ] ] [ fhir:code [ fhir:v "85195" ] ; fhir:display [ fhir:v "Familial expansile osteolysis" ] ] [ fhir:code [ fhir:v "85197" ] ; fhir:display [ fhir:v "Genochondromatosis type 1" ] ] [ fhir:code [ fhir:v "85198" ] ; fhir:display [ fhir:v "Dysspondyloenchondromatosis" ] ] [ fhir:code [ fhir:v "85199" ] ; fhir:display [ fhir:v "Craniosynostosis-anal anomalies-porokeratosis syndrome" ] ] [ fhir:code [ fhir:v "852" ] ; fhir:display [ fhir:v "X-linked thrombocytopenia with normal platelets" ] ] [ fhir:code [ fhir:v "85200" ] ; fhir:display [ fhir:v "Ischiovertebral syndrome" ] ] [ fhir:code [ fhir:v "85201" ] ; fhir:display [ fhir:v "Genitopatellar syndrome" ] ] [ fhir:code [ fhir:v "85202" ] ; fhir:display [ fhir:v "Keutel syndrome" ] ] [ fhir:code [ fhir:v "85203" ] ; fhir:display [ fhir:v "Acropectoral syndrome" ] ] [ fhir:code [ fhir:v "85212" ] ; fhir:display [ fhir:v "Fetal Gaucher disease" ] ] [ fhir:code [ fhir:v "85273" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Abidi type" ] ] [ fhir:code [ fhir:v "85274" ] ; fhir:display [ fhir:v "Syndromic X-linked intellectual disability 7" ] ] [ fhir:code [ fhir:v "85275" ] ; fhir:display [ fhir:v "Microphthalmia-ankyloblepharon-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "85276" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Armfield type" ] ] [ fhir:code [ fhir:v "85277" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Cantagrel type" ] ] [ fhir:code [ fhir:v "85278" ] ; fhir:display [ fhir:v "Christianson syndrome" ] ] [ fhir:code [ fhir:v "85279" ] ; fhir:display [ fhir:v "KDM5C-related syndromic X-linked intellectual disability" ] ] [ fhir:code [ fhir:v "85280" ] ; fhir:display [ fhir:v "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "85282" ] ; fhir:display [ fhir:v "MEHMO syndrome" ] ] [ fhir:code [ fhir:v "85283" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Miles-Carpenter type" ] ] [ fhir:code [ fhir:v "85284" ] ; fhir:display [ fhir:v "BRESEK syndrome" ] ] [ fhir:code [ fhir:v "85285" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Schimke type" ] ] [ fhir:code [ fhir:v "85286" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Shashi type" ] ] [ fhir:code [ fhir:v "85287" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Siderius type" ] ] [ fhir:code [ fhir:v "85288" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Stocco Dos Santos type" ] ] [ fhir:code [ fhir:v "85290" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Wilson type" ] ] [ fhir:code [ fhir:v "85292" ] ; fhir:display [ fhir:v "X-linked spinocerebellar ataxia type 4" ] ] [ fhir:code [ fhir:v "85293" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Cabezas type" ] ] [ fhir:code [ fhir:v "85294" ] ; fhir:display [ fhir:v "X-linked epilepsy-learning disabilities-behavior disorders syndrome" ] ] [ fhir:code [ fhir:v "85295" ] ; fhir:display [ fhir:v "HSD10 disease, atypical type" ] ] [ fhir:code [ fhir:v "85297" ] ; fhir:display [ fhir:v "X-linked spinocerebellar ataxia type 3" ] ] [ fhir:code [ fhir:v "853" ] ; fhir:display [ fhir:v "Fetal and neonatal alloimmune thrombocytopenia" ] ] [ fhir:code [ fhir:v "85317" ] ; fhir:display [ fhir:v "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome" ] ] [ fhir:code [ fhir:v "85319" ] ; fhir:display [ fhir:v "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome" ] ] [ fhir:code [ fhir:v "85320" ] ; fhir:display [ fhir:v "X-linked intellectual disability-macrocephaly-macroorchidism syndrome" ] ] [ fhir:code [ fhir:v "85321" ] ; fhir:display [ fhir:v "Deafness-intellectual disability syndrome, Martin-Probst type" ] ] [ fhir:code [ fhir:v "85322" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Pai type" ] ] [ fhir:code [ fhir:v "85323" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Seemanova type" ] ] [ fhir:code [ fhir:v "85324" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Shrimpton type" ] ] [ fhir:code [ fhir:v "85325" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Stevenson type" ] ] [ fhir:code [ fhir:v "85326" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Stoll type" ] ] [ fhir:code [ fhir:v "85327" ] ; fhir:display [ fhir:v "X-linked intellectual disability-acromegaly-hyperactivity syndrome" ] ] [ fhir:code [ fhir:v "85329" ] ; fhir:display [ fhir:v "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" ] ] [ fhir:code [ fhir:v "85332" ] ; fhir:display [ fhir:v "X-linked intellectual disability-retinitis pigmentosa syndrome" ] ] [ fhir:code [ fhir:v "85334" ] ; fhir:display [ fhir:v "X-linked neurodegenerative syndrome, Bertini type" ] ] [ fhir:code [ fhir:v "85335" ] ; fhir:display [ fhir:v "Fried syndrome" ] ] [ fhir:code [ fhir:v "85336" ] ; fhir:display [ fhir:v "X-linked neurodegenerative syndrome, Hamel type" ] ] [ fhir:code [ fhir:v "85338" ] ; fhir:display [ fhir:v "X-linked intellectual disability-ataxia-apraxia syndrome" ] ] [ fhir:code [ fhir:v "854" ] ; fhir:display [ fhir:v "Primitive portal vein thrombosis" ] ] [ fhir:code [ fhir:v "85408" ] ; fhir:display [ fhir:v "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis" ] ] [ fhir:code [ fhir:v "85410" ] ; fhir:display [ fhir:v "Oligoarticular juvenile idiopathic arthritis" ] ] [ fhir:code [ fhir:v "85414" ] ; fhir:display [ fhir:v "Systemic-onset juvenile idiopathic arthritis" ] ] [ fhir:code [ fhir:v "85435" ] ; fhir:display [ fhir:v "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis" ] ] [ fhir:code [ fhir:v "85436" ] ; fhir:display [ fhir:v "Psoriasis-related juvenile idiopathic arthritis" ] ] [ fhir:code [ fhir:v "85438" ] ; fhir:display [ fhir:v "Enthesitis-related juvenile idiopathic arthritis" ] ] [ fhir:code [ fhir:v "85442" ] ; fhir:display [ fhir:v "Short stature-pituitary and cerebellar defects-small sella turcica syndrome" ] ] [ fhir:code [ fhir:v "85443" ] ; fhir:display [ fhir:v "AL amyloidosis" ] ] [ fhir:code [ fhir:v "85445" ] ; fhir:display [ fhir:v "AA amyloidosis" ] ] [ fhir:code [ fhir:v "85446" ] ; fhir:display [ fhir:v "Wild type ABeta2M amyloidosis" ] ] [ fhir:code [ fhir:v "85447" ] ; fhir:display [ fhir:v "ATTRV30M amyloidosis" ] ] [ fhir:code [ fhir:v "85448" ] ; fhir:display [ fhir:v "AGel amyloidosis" ] ] [ fhir:code [ fhir:v "85450" ] ; fhir:display [ fhir:v "Hereditary amyloidosis with primary renal involvement" ] ] [ fhir:code [ fhir:v "85451" ] ; fhir:display [ fhir:v "ATTRV122I amyloidosis" ] ] [ fhir:code [ fhir:v "85453" ] ; fhir:display [ fhir:v "X-linked reticulate pigmentary disorder" ] ] [ fhir:code [ fhir:v "85458" ] ; fhir:display [ fhir:v "Hereditary cerebral hemorrhage with amyloidosis" ] ] [ fhir:code [ fhir:v "857" ] ; fhir:display [ fhir:v "Townes-Brocks syndrome" ] ] [ fhir:code [ fhir:v "858" ] ; fhir:display [ fhir:v "Congenital toxoplasmosis" ] ] [ fhir:code [ fhir:v "859" ] ; fhir:display [ fhir:v "Transcobalamin deficiency" ] ] [ fhir:code [ fhir:v "86" ] ; fhir:display [ fhir:v "Familial abdominal aortic aneurysm" ] ] [ fhir:code [ fhir:v "860" ] ; fhir:display [ fhir:v "Congenitally uncorrected transposition of the great arteries" ] ] [ fhir:code [ fhir:v "861" ] ; fhir:display [ fhir:v "Treacher-Collins syndrome" ] ] [ fhir:code [ fhir:v "863" ] ; fhir:display [ fhir:v "Trichinellosis" ] ] [ fhir:code [ fhir:v "86309" ] ; fhir:display [ fhir:v "DPAGT1-CDG" ] ] [ fhir:code [ fhir:v "864" ] ; fhir:display [ fhir:v "Trichofolliculoma" ] ] [ fhir:code [ fhir:v "867" ] ; fhir:display [ fhir:v "Familial multiple trichoepithelioma" ] ] [ fhir:code [ fhir:v "86788" ] ; fhir:display [ fhir:v "X-linked severe congenital neutropenia" ] ] [ fhir:code [ fhir:v "86789" ] ; fhir:display [ fhir:v "Patella aplasia/hypoplasia" ] ] [ fhir:code [ fhir:v "86797" ] ; fhir:display [ fhir:v "Atypical lichen myxedematosus" ] ] [ fhir:code [ fhir:v "868" ] ; fhir:display [ fhir:v "Triose phosphate-isomerase deficiency" ] ] [ fhir:code [ fhir:v "86812" ] ; fhir:display [ fhir:v "POMT1-related limb-girdle muscular dystrophy R11" ] ] [ fhir:code [ fhir:v "86813" ] ; fhir:display [ fhir:v "Helicoid peripapillary chorioretinal degeneration" ] ] [ fhir:code [ fhir:v "86814" ] ; fhir:display [ fhir:v "Benign adult familial myoclonic epilepsy" ] ] [ fhir:code [ fhir:v "86815" ] ; fhir:display [ fhir:v "Aplasia of lacrimal and salivary glands" ] ] [ fhir:code [ fhir:v "86816" ] ; fhir:display [ fhir:v "Congenital analbuminemia" ] ] [ fhir:code [ fhir:v "86817" ] ; fhir:display [ fhir:v "Hemolytic anemia due to adenylate kinase deficiency" ] ] [ fhir:code [ fhir:v "86818" ] ; fhir:display [ fhir:v "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" ] ] [ fhir:code [ fhir:v "86819" ] ; fhir:display [ fhir:v "Atrichia with papular lesions" ] ] [ fhir:code [ fhir:v "86820" ] ; fhir:display [ fhir:v "Familial avascular necrosis of femoral head" ] ] [ fhir:code [ fhir:v "86821" ] ; fhir:display [ fhir:v "Lissencephaly type 3-familial fetal akinesia sequence syndrome" ] ] [ fhir:code [ fhir:v "86822" ] ; fhir:display [ fhir:v "Lissencephaly type 3-metacarpal bone dysplasia syndrome" ] ] [ fhir:code [ fhir:v "86829" ] ; fhir:display [ fhir:v "Chronic neutrophilic leukemia" ] ] [ fhir:code [ fhir:v "86830" ] ; fhir:display [ fhir:v "Chronic myeloproliferative disease, unclassifiable" ] ] [ fhir:code [ fhir:v "86834" ] ; fhir:display [ fhir:v "Juvenile myelomonocytic leukemia" ] ] [ fhir:code [ fhir:v "86839" ] ; fhir:display [ fhir:v "Refractory anemia with excess blasts" ] ] [ fhir:code [ fhir:v "86841" ] ; fhir:display [ fhir:v "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" ] ] [ fhir:code [ fhir:v "86843" ] ; fhir:display [ fhir:v "Acute panmyelosis with myelofibrosis" ] ] [ fhir:code [ fhir:v "86845" ] ; fhir:display [ fhir:v "Acute myeloid leukaemia with myelodysplasia-related features" ] ] [ fhir:code [ fhir:v "86849" ] ; fhir:display [ fhir:v "Acute basophilic leukemia" ] ] [ fhir:code [ fhir:v "86850" ] ; fhir:display [ fhir:v "Myeloid sarcoma" ] ] [ fhir:code [ fhir:v "86852" ] ; fhir:display [ fhir:v "B-cell prolymphocytic leukemia" ] ] [ fhir:code [ fhir:v "86854" ] ; fhir:display [ fhir:v "Splenic marginal zone lymphoma" ] ] [ fhir:code [ fhir:v "86855" ] ; fhir:display [ fhir:v "Plasmacytoma" ] ] [ fhir:code [ fhir:v "86861" ] ; fhir:display [ fhir:v "Non-amyloid monoclonal immunoglobulin deposition disease" ] ] [ fhir:code [ fhir:v "86864" ] ; fhir:display [ fhir:v "Heavy chain disease" ] ] [ fhir:code [ fhir:v "86867" ] ; fhir:display [ fhir:v "Nodal marginal zone B-cell lymphoma" ] ] [ fhir:code [ fhir:v "86869" ] ; fhir:display [ fhir:v "Lymphomatoid granulomatosis" ] ] [ fhir:code [ fhir:v "86870" ] ; fhir:display [ fhir:v "Blastic plasmacytoid dendritic cell neoplasm" ] ] [ fhir:code [ fhir:v "86871" ] ; fhir:display [ fhir:v "T-cell prolymphocytic leukemia" ] ] [ fhir:code [ fhir:v "86872" ] ; fhir:display [ fhir:v "T-cell large granular lymphocyte leukemia" ] ] [ fhir:code [ fhir:v "86873" ] ; fhir:display [ fhir:v "Aggressive NK-cell leukemia" ] ] [ fhir:code [ fhir:v "86875" ] ; fhir:display [ fhir:v "Adult T-cell leukemia/lymphoma" ] ] [ fhir:code [ fhir:v "86879" ] ; fhir:display [ fhir:v "Extranodal nasal NK/T cell lymphoma" ] ] [ fhir:code [ fhir:v "86880" ] ; fhir:display [ fhir:v "Enteropathy-associated T-cell lymphoma" ] ] [ fhir:code [ fhir:v "86882" ] ; fhir:display [ fhir:v "Hepatosplenic T-cell lymphoma" ] ] [ fhir:code [ fhir:v "86884" ] ; fhir:display [ fhir:v "Subcutaneous panniculitis-like T-cell lymphoma" ] ] [ fhir:code [ fhir:v "86885" ] ; fhir:display [ fhir:v "Primary cutaneous peripheral T-cell lymphoma not otherwise specified" ] ] [ fhir:code [ fhir:v "86886" ] ; fhir:display [ fhir:v "Angioimmunoblastic T-cell lymphoma" ] ] [ fhir:code [ fhir:v "86893" ] ; fhir:display [ fhir:v "Nodular lymphocyte predominant Hodgkin lymphoma" ] ] [ fhir:code [ fhir:v "86896" ] ; fhir:display [ fhir:v "Histiocytic sarcoma" ] ] [ fhir:code [ fhir:v "86897" ] ; fhir:display [ fhir:v "Langerhans cell sarcoma" ] ] [ fhir:code [ fhir:v "869" ] ; fhir:display [ fhir:v "Triple A syndrome" ] ] [ fhir:code [ fhir:v "86900" ] ; fhir:display [ fhir:v "Interdigitating dendritic cell sarcoma" ] ] [ fhir:code [ fhir:v "86902" ] ; fhir:display [ fhir:v "Follicular dendritic cell sarcoma" ] ] [ fhir:code [ fhir:v "86903" ] ; fhir:display [ fhir:v "Dendritic cell sarcoma not otherwise specified" ] ] [ fhir:code [ fhir:v "86904" ] ; fhir:display [ fhir:v "Methotrexate-associated lymphoproliferative disorders" ] ] [ fhir:code [ fhir:v "86906" ] ; fhir:display [ fhir:v "Hypothalamic hamartomas with gelastic seizures" ] ] [ fhir:code [ fhir:v "86908" ] ; fhir:display [ fhir:v "Idiopathic hemiconvulsion-hemiplegia syndrome" ] ] [ fhir:code [ fhir:v "86909" ] ; fhir:display [ fhir:v "Myoclonic epilepsy of infancy" ] ] [ fhir:code [ fhir:v "86911" ] ; fhir:display [ fhir:v "Epilepsy with myoclonic absences" ] ] [ fhir:code [ fhir:v "86913" ] ; fhir:display [ fhir:v "Myoclonic epilepsy in non-progressive encephalopathies" ] ] [ fhir:code [ fhir:v "86914" ] ; fhir:display [ fhir:v "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome" ] ] [ fhir:code [ fhir:v "86915" ] ; fhir:display [ fhir:v "Lymphedema-atrial septal defects-facial changes syndrome" ] ] [ fhir:code [ fhir:v "86918" ] ; fhir:display [ fhir:v "Diffuse palmoplantar keratoderma-acrocyanosis syndrome" ] ] [ fhir:code [ fhir:v "86919" ] ; fhir:display [ fhir:v "Keratosis palmaris et plantaris-clinodactyly syndrome" ] ] [ fhir:code [ fhir:v "86920" ] ; fhir:display [ fhir:v "Dermatopathia pigmentosa reticularis" ] ] [ fhir:code [ fhir:v "86923" ] ; fhir:display [ fhir:v "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type" ] ] [ fhir:code [ fhir:v "87" ] ; fhir:display [ fhir:v "Apert syndrome" ] ] [ fhir:code [ fhir:v "870" ] ; fhir:display [ fhir:v "Down syndrome" ] ] [ fhir:code [ fhir:v "871" ] ; fhir:display [ fhir:v "Familial progressive cardiac conduction defect" ] ] [ fhir:code [ fhir:v "873" ] ; fhir:display [ fhir:v "Desmoid tumor" ] ] [ fhir:code [ fhir:v "874" ] ; fhir:display [ fhir:v "Primary adult heart tumor" ] ] [ fhir:code [ fhir:v "875" ] ; fhir:display [ fhir:v "Primary pediatric heart tumor" ] ] [ fhir:code [ fhir:v "87503" ] ; fhir:display [ fhir:v "Mal de Meleda" ] ] [ fhir:code [ fhir:v "876" ] ; fhir:display [ fhir:v "Yolk sac tumor" ] ] [ fhir:code [ fhir:v "87876" ] ; fhir:display [ fhir:v "Sialidosis type 2" ] ] [ fhir:code [ fhir:v "87884" ] ; fhir:display [ fhir:v "Non-syndromic genetic deafness" ] ] [ fhir:code [ fhir:v "879" ] ; fhir:display [ fhir:v "Tungiasis" ] ] [ fhir:code [ fhir:v "88" ] ; fhir:display [ fhir:v "Idiopathic aplastic anemia" ] ] [ fhir:code [ fhir:v "881" ] ; fhir:display [ fhir:v "Turner syndrome" ] ] [ fhir:code [ fhir:v "882" ] ; fhir:display [ fhir:v "Tyrosinemia type 1" ] ] [ fhir:code [ fhir:v "883" ] ; fhir:display [ fhir:v "Extragonadal teratoma" ] ] [ fhir:code [ fhir:v "884" ] ; fhir:display [ fhir:v "Tetrasomy 12p" ] ] [ fhir:code [ fhir:v "886" ] ; fhir:display [ fhir:v "Usher syndrome" ] ] [ fhir:code [ fhir:v "88616" ] ; fhir:display [ fhir:v "Autosomal recessive non-syndromic intellectual disability" ] ] [ fhir:code [ fhir:v "88618" ] ; fhir:display [ fhir:v "S-adenosylhomocysteine hydrolase deficiency" ] ] [ fhir:code [ fhir:v "88619" ] ; fhir:display [ fhir:v "Familial acute necrotizing encephalopathy" ] ] [ fhir:code [ fhir:v "88620" ] ; fhir:display [ fhir:v "Isolated congenital anosmia" ] ] [ fhir:code [ fhir:v "88621" ] ; fhir:display [ fhir:v "Ichthyosis-prematurity syndrome" ] ] [ fhir:code [ fhir:v "88628" ] ; fhir:display [ fhir:v "Posterior column ataxia-retinitis pigmentosa syndrome" ] ] [ fhir:code [ fhir:v "88629" ] ; fhir:display [ fhir:v "Tritanopia" ] ] [ fhir:code [ fhir:v "88630" ] ; fhir:display [ fhir:v "Terminal osseous dysplasia-pigmentary defects syndrome" ] ] [ fhir:code [ fhir:v "88633" ] ; fhir:display [ fhir:v "Superior limbic keratoconjunctivitis" ] ] [ fhir:code [ fhir:v "88635" ] ; fhir:display [ fhir:v "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates" ] ] [ fhir:code [ fhir:v "88637" ] ; fhir:display [ fhir:v "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome" ] ] [ fhir:code [ fhir:v "88639" ] ; fhir:display [ fhir:v "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" ] ] [ fhir:code [ fhir:v "88642" ] ; fhir:display [ fhir:v "Congenital insensitivity to pain-anosmia-neuropathic arthropathy" ] ] [ fhir:code [ fhir:v "88643" ] ; fhir:display [ fhir:v "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome" ] ] [ fhir:code [ fhir:v "88644" ] ; fhir:display [ fhir:v "Autosomal recessive ataxia, Beauce type" ] ] [ fhir:code [ fhir:v "88659" ] ; fhir:display [ fhir:v "Autosomal dominant progressive nephropathy with hypertension" ] ] [ fhir:code [ fhir:v "88660" ] ; fhir:display [ fhir:v "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor" ] ] [ fhir:code [ fhir:v "88661" ] ; fhir:display [ fhir:v "Amelogenesis imperfecta" ] ] [ fhir:code [ fhir:v "887" ] ; fhir:display [ fhir:v "VACTERL/VATER association" ] ] [ fhir:code [ fhir:v "888" ] ; fhir:display [ fhir:v "Van der Woude syndrome" ] ] [ fhir:code [ fhir:v "889" ] ; fhir:display [ fhir:v "Cutaneous small vessel vasculitis" ] ] [ fhir:code [ fhir:v "88917" ] ; fhir:display [ fhir:v "X-linked Alport syndrome" ] ] [ fhir:code [ fhir:v "88918" ] ; fhir:display [ fhir:v "Autosomal dominant Alport syndrome" ] ] [ fhir:code [ fhir:v "88919" ] ; fhir:display [ fhir:v "Autosomal recessive Alport syndrome" ] ] [ fhir:code [ fhir:v "88924" ] ; fhir:display [ fhir:v "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis" ] ] [ fhir:code [ fhir:v "88938" ] ; fhir:display [ fhir:v "Pseudohypoaldosteronism type 2A" ] ] [ fhir:code [ fhir:v "88939" ] ; fhir:display [ fhir:v "Pseudohypoaldosteronism type 2B" ] ] [ fhir:code [ fhir:v "88940" ] ; fhir:display [ fhir:v "Pseudohypoaldosteronism type 2C" ] ] [ fhir:code [ fhir:v "88949" ] ; fhir:display [ fhir:v "MUC1-related autosomal dominant tubulointerstitial kidney disease" ] ] [ fhir:code [ fhir:v "88950" ] ; fhir:display [ fhir:v "UMOD-related autosomal dominant tubulointerstitial kidney disease" ] ] [ fhir:code [ fhir:v "890" ] ; fhir:display [ fhir:v "Hepatic veno-occlusive disease" ] ] [ fhir:code [ fhir:v "891" ] ; fhir:display [ fhir:v "Familial exudative vitreoretinopathy" ] ] [ fhir:code [ fhir:v "892" ] ; fhir:display [ fhir:v "Von Hippel-Lindau disease" ] ] [ fhir:code [ fhir:v "893" ] ; fhir:display [ fhir:v "WAGR syndrome" ] ] [ fhir:code [ fhir:v "894" ] ; fhir:display [ fhir:v "Waardenburg syndrome type 1" ] ] [ fhir:code [ fhir:v "895" ] ; fhir:display [ fhir:v "Waardenburg syndrome type 2" ] ] [ fhir:code [ fhir:v "896" ] ; fhir:display [ fhir:v "Waardenburg syndrome type 3" ] ] [ fhir:code [ fhir:v "897" ] ; fhir:display [ fhir:v "Waardenburg-Shah syndrome" ] ] [ fhir:code [ fhir:v "898" ] ; fhir:display [ fhir:v "Wagner disease" ] ] [ fhir:code [ fhir:v "89838" ] ; fhir:display [ fhir:v "Autosomal recessive generalized epidermolysis bullosa simplex" ] ] [ fhir:code [ fhir:v "89842" ] ; fhir:display [ fhir:v "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form" ] ] [ fhir:code [ fhir:v "89843" ] ; fhir:display [ fhir:v "Dystrophic epidermolysis bullosa pruriginosa" ] ] [ fhir:code [ fhir:v "89844" ] ; fhir:display [ fhir:v "Lissencephaly syndrome, Norman-Roberts type" ] ] [ fhir:code [ fhir:v "899" ] ; fhir:display [ fhir:v "Walker-Warburg syndrome" ] ] [ fhir:code [ fhir:v "89936" ] ; fhir:display [ fhir:v "X-linked hypophosphatemia" ] ] [ fhir:code [ fhir:v "89937" ] ; fhir:display [ fhir:v "Autosomal dominant hypophosphatemic rickets" ] ] [ fhir:code [ fhir:v "89938" ] ; fhir:display [ fhir:v "Bartter syndrome type 4" ] ] [ fhir:code [ fhir:v "9" ] ; fhir:display [ fhir:v "Tetrasomy X" ] ] [ fhir:code [ fhir:v "90" ] ; fhir:display [ fhir:v "Argininemia" ] ] [ fhir:code [ fhir:v "900" ] ; fhir:display [ fhir:v "Granulomatosis with polyangiitis" ] ] [ fhir:code [ fhir:v "90000" ] ; fhir:display [ fhir:v "Erythema elevatum diutinum" ] ] [ fhir:code [ fhir:v "90001" ] ; fhir:display [ fhir:v "X-linked cone dysfunction syndrome with myopia" ] ] [ fhir:code [ fhir:v "90002" ] ; fhir:display [ fhir:v "Undifferentiated connective tissue syndrome" ] ] [ fhir:code [ fhir:v "90003" ] ; fhir:display [ fhir:v "Inflammatory pseudotumor of the liver" ] ] [ fhir:code [ fhir:v "90020" ] ; fhir:display [ fhir:v "Parkinson-dementia complex of Guam" ] ] [ fhir:code [ fhir:v "90021" ] ; fhir:display [ fhir:v "Radiation myelitis" ] ] [ fhir:code [ fhir:v "90023" ] ; fhir:display [ fhir:v "Primary immunodeficiency syndrome due to LAMTOR2 deficiency" ] ] [ fhir:code [ fhir:v "90024" ] ; fhir:display [ fhir:v "Deafness with labyrinthine aplasia, microtia, and microdontia" ] ] [ fhir:code [ fhir:v "90026" ] ; fhir:display [ fhir:v "Primary erythromelalgia" ] ] [ fhir:code [ fhir:v "90030" ] ; fhir:display [ fhir:v "Hemolytic anemia due to glutathione reductase deficiency" ] ] [ fhir:code [ fhir:v "90031" ] ; fhir:display [ fhir:v "Non-spherocytic hemolytic anemia due to hexokinase deficiency" ] ] [ fhir:code [ fhir:v "90033" ] ; fhir:display [ fhir:v "Autoimmune hemolytic anemia, warm type" ] ] [ fhir:code [ fhir:v "90035" ] ; fhir:display [ fhir:v "Paroxysmal cold hemoglobinuria" ] ] [ fhir:code [ fhir:v "90036" ] ; fhir:display [ fhir:v "Mixed-type autoimmune hemolytic anemia" ] ] [ fhir:code [ fhir:v "90037" ] ; fhir:display [ fhir:v "Drug-induced autoimmune hemolytic anemia" ] ] [ fhir:code [ fhir:v "90038" ] ; fhir:display [ fhir:v "Shiga toxin-associated hemolytic uremic syndrome" ] ] [ fhir:code [ fhir:v "90039" ] ; fhir:display [ fhir:v "Hemoglobin D disease" ] ] [ fhir:code [ fhir:v "90041" ] ; fhir:display [ fhir:v "Gaisböck syndrome" ] ] [ fhir:code [ fhir:v "90042" ] ; fhir:display [ fhir:v "Primary familial polycythemia" ] ] [ fhir:code [ fhir:v "90044" ] ; fhir:display [ fhir:v "Familial pseudohyperkalemia" ] ] [ fhir:code [ fhir:v "90045" ] ; fhir:display [ fhir:v "Hereditary folate malabsorption" ] ] [ fhir:code [ fhir:v "90050" ] ; fhir:display [ fhir:v "Retinopathy of prematurity" ] ] [ fhir:code [ fhir:v "90051" ] ; fhir:display [ fhir:v "Sepsis in premature infants" ] ] [ fhir:code [ fhir:v "90052" ] ; fhir:display [ fhir:v "Recurrent hepatitis C virus induced liver disease in liver transplant recipients" ] ] [ fhir:code [ fhir:v "90053" ] ; fhir:display [ fhir:v "Complications after hematopoietic stem cell transplantation" ] ] [ fhir:code [ fhir:v "90056" ] ; fhir:display [ fhir:v "Moderate and severe traumatic brain injury" ] ] [ fhir:code [ fhir:v "90058" ] ; fhir:display [ fhir:v "Spinal cord injury" ] ] [ fhir:code [ fhir:v "90059" ] ; fhir:display [ fhir:v "Sudden sensorineural hearing loss" ] ] [ fhir:code [ fhir:v "90060" ] ; fhir:display [ fhir:v "Diffuse alveolar hemorrhage" ] ] [ fhir:code [ fhir:v "90062" ] ; fhir:display [ fhir:v "Acute liver failure" ] ] [ fhir:code [ fhir:v "90064" ] ; fhir:display [ fhir:v "Acute peripheral arterial occlusion" ] ] [ fhir:code [ fhir:v "90065" ] ; fhir:display [ fhir:v "Acquired aneurysmal subarachnoid hemorrhage" ] ] [ fhir:code [ fhir:v "90066" ] ; fhir:display [ fhir:v "Pneumonia caused by Pseudomonas aeruginosa infection" ] ] [ fhir:code [ fhir:v "90068" ] ; fhir:display [ fhir:v "Cocaine intoxication" ] ] [ fhir:code [ fhir:v "90069" ] ; fhir:display [ fhir:v "Systemic monochloroacetate poisoning" ] ] [ fhir:code [ fhir:v "90073" ] ; fhir:display [ fhir:v "Hepatitis B reinfection following liver transplantation" ] ] [ fhir:code [ fhir:v "90076" ] ; fhir:display [ fhir:v "Partial deep dermal and full thickness burns" ] ] [ fhir:code [ fhir:v "90078" ] ; fhir:display [ fhir:v "Invasive infections due to vancomycin-resistant enterococci" ] ] [ fhir:code [ fhir:v "90080" ] ; fhir:display [ fhir:v "Scarring in glaucoma filtration surgical procedures" ] ] [ fhir:code [ fhir:v "90081" ] ; fhir:display [ fhir:v "AIDS wasting syndrome" ] ] [ fhir:code [ fhir:v "901" ] ; fhir:display [ fhir:v "Wells syndrome" ] ] [ fhir:code [ fhir:v "90103" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome" ] ] [ fhir:code [ fhir:v "90117" ] ; fhir:display [ fhir:v "Hereditary motor and sensory neuropathy, Okinawa type" ] ] [ fhir:code [ fhir:v "90118" ] ; fhir:display [ fhir:v "Severe early-onset axonal neuropathy due to MFN2 deficiency" ] ] [ fhir:code [ fhir:v "90119" ] ; fhir:display [ fhir:v "Hereditary motor and sensory neuropathy with acrodystrophy" ] ] [ fhir:code [ fhir:v "90120" ] ; fhir:display [ fhir:v "Hereditary motor and sensory neuropathy type 6" ] ] [ fhir:code [ fhir:v "90153" ] ; fhir:display [ fhir:v "Mandibuloacral dysplasia with type A lipodystrophy" ] ] [ fhir:code [ fhir:v "90154" ] ; fhir:display [ fhir:v "Mandibuloacral dysplasia with type B lipodystrophy" ] ] [ fhir:code [ fhir:v "90156" ] ; fhir:display [ fhir:v "Centrifugal lipodystrophy" ] ] [ fhir:code [ fhir:v "90157" ] ; fhir:display [ fhir:v "Drug-induced localized lipodystrophy" ] ] [ fhir:code [ fhir:v "90158" ] ; fhir:display [ fhir:v "Idiopathic localized lipodystrophy" ] ] [ fhir:code [ fhir:v "90159" ] ; fhir:display [ fhir:v "Panniculitis-induced localized lipodystrophy" ] ] [ fhir:code [ fhir:v "90160" ] ; fhir:display [ fhir:v "Pressure-induced localized lipoatrophy" ] ] [ fhir:code [ fhir:v "90186" ] ; fhir:display [ fhir:v "Meige disease" ] ] [ fhir:code [ fhir:v "902" ] ; fhir:display [ fhir:v "Werner syndrome" ] ] [ fhir:code [ fhir:v "90280" ] ; fhir:display [ fhir:v "Chilblain lupus" ] ] [ fhir:code [ fhir:v "90281" ] ; fhir:display [ fhir:v "Discoid lupus erythematosus" ] ] [ fhir:code [ fhir:v "90282" ] ; fhir:display [ fhir:v "Hypertrophic or verrucous lupus erythematosus" ] ] [ fhir:code [ fhir:v "90283" ] ; fhir:display [ fhir:v "Lupus erythematosus tumidus" ] ] [ fhir:code [ fhir:v "90285" ] ; fhir:display [ fhir:v "Lupus erythematosus panniculitis" ] ] [ fhir:code [ fhir:v "90289" ] ; fhir:display [ fhir:v "Localized scleroderma" ] ] [ fhir:code [ fhir:v "90291" ] ; fhir:display [ fhir:v "Systemic sclerosis" ] ] [ fhir:code [ fhir:v "903" ] ; fhir:display [ fhir:v "Von Willebrand disease" ] ] [ fhir:code [ fhir:v "90301" ] ; fhir:display [ fhir:v "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome" ] ] [ fhir:code [ fhir:v "90307" ] ; fhir:display [ fhir:v "Parkes Weber syndrome" ] ] [ fhir:code [ fhir:v "90308" ] ; fhir:display [ fhir:v "Klippel-Trénaunay syndrome" ] ] [ fhir:code [ fhir:v "90321" ] ; fhir:display [ fhir:v "Cockayne syndrome type 1" ] ] [ fhir:code [ fhir:v "90322" ] ; fhir:display [ fhir:v "Cockayne syndrome type 2" ] ] [ fhir:code [ fhir:v "90324" ] ; fhir:display [ fhir:v "Cockayne syndrome type 3" ] ] [ fhir:code [ fhir:v "90340" ] ; fhir:display [ fhir:v "Blau syndrome" ] ] [ fhir:code [ fhir:v "90342" ] ; fhir:display [ fhir:v "Xeroderma pigmentosum variant" ] ] [ fhir:code [ fhir:v "90348" ] ; fhir:display [ fhir:v "Autosomal dominant cutis laxa" ] ] [ fhir:code [ fhir:v "90349" ] ; fhir:display [ fhir:v "Autosomal recessive cutis laxa type 1" ] ] [ fhir:code [ fhir:v "90354" ] ; fhir:display [ fhir:v "Brittle cornea syndrome" ] ] [ fhir:code [ fhir:v "90362" ] ; fhir:display [ fhir:v "Primary intestinal lymphangiectasia" ] ] [ fhir:code [ fhir:v "90363" ] ; fhir:display [ fhir:v "Secondary intestinal lymphangiectasia" ] ] [ fhir:code [ fhir:v "90368" ] ; fhir:display [ fhir:v "Hypotrichosis simplex of the scalp" ] ] [ fhir:code [ fhir:v "90389" ] ; fhir:display [ fhir:v "Telangiectasia macularis eruptiva perstans" ] ] [ fhir:code [ fhir:v "90390" ] ; fhir:display [ fhir:v "Anonychia-onychodystrophy syndrome" ] ] [ fhir:code [ fhir:v "90393" ] ; fhir:display [ fhir:v "Nodular lichen myxedematosus" ] ] [ fhir:code [ fhir:v "90394" ] ; fhir:display [ fhir:v "Discrete papular lichen myxedematosus" ] ] [ fhir:code [ fhir:v "90395" ] ; fhir:display [ fhir:v "Papular mucinosis of infancy" ] ] [ fhir:code [ fhir:v "90396" ] ; fhir:display [ fhir:v "Acral persistent papular mucinosis" ] ] [ fhir:code [ fhir:v "90397" ] ; fhir:display [ fhir:v "Self-healing papular mucinosis" ] ] [ fhir:code [ fhir:v "90398" ] ; fhir:display [ fhir:v "Localized lichen myxedematosus with mixed features of different subtypes" ] ] [ fhir:code [ fhir:v "90399" ] ; fhir:display [ fhir:v "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms" ] ] [ fhir:code [ fhir:v "904" ] ; fhir:display [ fhir:v "Williams syndrome" ] ] [ fhir:code [ fhir:v "90400" ] ; fhir:display [ fhir:v "Scleromyxedema without monoclonal gammopathy" ] ] [ fhir:code [ fhir:v "905" ] ; fhir:display [ fhir:v "Wilson disease" ] ] [ fhir:code [ fhir:v "906" ] ; fhir:display [ fhir:v "Wiskott-Aldrich syndrome" ] ] [ fhir:code [ fhir:v "90625" ] ; fhir:display [ fhir:v "Rare X-linked non-syndromic sensorineural deafness type DFN" ] ] [ fhir:code [ fhir:v "90635" ] ; fhir:display [ fhir:v "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA" ] ] [ fhir:code [ fhir:v "90636" ] ; fhir:display [ fhir:v "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB" ] ] [ fhir:code [ fhir:v "90641" ] ; fhir:display [ fhir:v "Rare mitochondrial non-syndromic sensorineural deafness" ] ] [ fhir:code [ fhir:v "90646" ] ; fhir:display [ fhir:v "Deafness-hypogonadism syndrome" ] ] [ fhir:code [ fhir:v "90647" ] ; fhir:display [ fhir:v "Jervell and Lange-Nielsen syndrome" ] ] [ fhir:code [ fhir:v "90650" ] ; fhir:display [ fhir:v "Otopalatodigital syndrome type 1" ] ] [ fhir:code [ fhir:v "90652" ] ; fhir:display [ fhir:v "Otopalatodigital syndrome type 2" ] ] [ fhir:code [ fhir:v "90653" ] ; fhir:display [ fhir:v "Stickler syndrome type 1" ] ] [ fhir:code [ fhir:v "90654" ] ; fhir:display [ fhir:v "Stickler syndrome type 2" ] ] [ fhir:code [ fhir:v "90658" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 1E" ] ] [ fhir:code [ fhir:v "90673" ] ; fhir:display [ fhir:v "Hypothyroidism due to TSH receptor mutations" ] ] [ fhir:code [ fhir:v "90674" ] ; fhir:display [ fhir:v "Isolated thyroid-stimulating hormone deficiency" ] ] [ fhir:code [ fhir:v "90695" ] ; fhir:display [ fhir:v "Non-acquired panhypopituitarism" ] ] [ fhir:code [ fhir:v "90790" ] ; fhir:display [ fhir:v "Congenital lipoid adrenal hyperplasia due to STAR deficency" ] ] [ fhir:code [ fhir:v "90791" ] ; fhir:display [ fhir:v "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "90793" ] ; fhir:display [ fhir:v "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency" ] ] [ fhir:code [ fhir:v "90794" ] ; fhir:display [ fhir:v "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" ] ] [ fhir:code [ fhir:v "90795" ] ; fhir:display [ fhir:v "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency" ] ] [ fhir:code [ fhir:v "90796" ] ; fhir:display [ fhir:v "46,XY difference of sex development due to isolated 17,20-lyase deficiency" ] ] [ fhir:code [ fhir:v "90797" ] ; fhir:display [ fhir:v "Partial androgen insensitivity syndrome" ] ] [ fhir:code [ fhir:v "908" ] ; fhir:display [ fhir:v "Fragile X syndrome" ] ] [ fhir:code [ fhir:v "909" ] ; fhir:display [ fhir:v "Cerebrotendinous xanthomatosis" ] ] [ fhir:code [ fhir:v "91" ] ; fhir:display [ fhir:v "Aromatase deficiency" ] ] [ fhir:code [ fhir:v "910" ] ; fhir:display [ fhir:v "Xeroderma pigmentosum" ] ] [ fhir:code [ fhir:v "911" ] ; fhir:display [ fhir:v "Combined immunodeficiency due to ZAP70 deficiency" ] ] [ fhir:code [ fhir:v "91127" ] ; fhir:display [ fhir:v "Adenovirus infection in immunocompromised patients" ] ] [ fhir:code [ fhir:v "91130" ] ; fhir:display [ fhir:v "Cardiomyopathy-hypotonia-lactic acidosis syndrome" ] ] [ fhir:code [ fhir:v "91131" ] ; fhir:display [ fhir:v "DK1-CDG" ] ] [ fhir:code [ fhir:v "91132" ] ; fhir:display [ fhir:v "Ichthyosis-hypotrichosis syndrome" ] ] [ fhir:code [ fhir:v "91135" ] ; fhir:display [ fhir:v "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency" ] ] [ fhir:code [ fhir:v "91136" ] ; fhir:display [ fhir:v "Acquired monoclonal Ig light chain-associated Fanconi syndrome" ] ] [ fhir:code [ fhir:v "91138" ] ; fhir:display [ fhir:v "Cryoglobulinemic vasculitis" ] ] [ fhir:code [ fhir:v "91139" ] ; fhir:display [ fhir:v "Simple cryoglobulinemia" ] ] [ fhir:code [ fhir:v "91140" ] ; fhir:display [ fhir:v "Unspecified juvenile idiopathic arthritis" ] ] [ fhir:code [ fhir:v "912" ] ; fhir:display [ fhir:v "Zellweger syndrome" ] ] [ fhir:code [ fhir:v "913" ] ; fhir:display [ fhir:v "Zollinger-Ellison syndrome" ] ] [ fhir:code [ fhir:v "91347" ] ; fhir:display [ fhir:v "TSH-secreting pituitary adenoma" ] ] [ fhir:code [ fhir:v "91348" ] ; fhir:display [ fhir:v "Functioning gonadotropic adenoma" ] ] [ fhir:code [ fhir:v "91349" ] ; fhir:display [ fhir:v "Non-functioning pituitary adenoma" ] ] [ fhir:code [ fhir:v "91350" ] ; fhir:display [ fhir:v "Pituitary deficiency due to Rathke cleft cysts" ] ] [ fhir:code [ fhir:v "91351" ] ; fhir:display [ fhir:v "Pituitary dermoid and epidermoid cysts" ] ] [ fhir:code [ fhir:v "91352" ] ; fhir:display [ fhir:v "Germinoma of the central nervous system" ] ] [ fhir:code [ fhir:v "91354" ] ; fhir:display [ fhir:v "Pituitary deficiency due to empty sella turcica syndrome" ] ] [ fhir:code [ fhir:v "91355" ] ; fhir:display [ fhir:v "Sheehan syndrome" ] ] [ fhir:code [ fhir:v "91358" ] ; fhir:display [ fhir:v "Congenital esophageal diverticulum" ] ] [ fhir:code [ fhir:v "91359" ] ; fhir:display [ fhir:v "Chronic pneumonitis of infancy" ] ] [ fhir:code [ fhir:v "91364" ] ; fhir:display [ fhir:v "Non-specific interstitial pneumonia" ] ] [ fhir:code [ fhir:v "91387" ] ; fhir:display [ fhir:v "Familial thoracic aortic aneurysm and aortic dissection" ] ] [ fhir:code [ fhir:v "91396" ] ; fhir:display [ fhir:v "Isolated cryptophthalmia" ] ] [ fhir:code [ fhir:v "91397" ] ; fhir:display [ fhir:v "Isolated ankyloblepharon filiforme adnatum" ] ] [ fhir:code [ fhir:v "91411" ] ; fhir:display [ fhir:v "Congenital ptosis" ] ] [ fhir:code [ fhir:v "91412" ] ; fhir:display [ fhir:v "Marcus-Gunn syndrome" ] ] [ fhir:code [ fhir:v "91413" ] ; fhir:display [ fhir:v "Congenital Horner syndrome" ] ] [ fhir:code [ fhir:v "91414" ] ; fhir:display [ fhir:v "Pilomatrixoma" ] ] [ fhir:code [ fhir:v "91416" ] ; fhir:display [ fhir:v "Isolated congenital alacrima" ] ] [ fhir:code [ fhir:v "91481" ] ; fhir:display [ fhir:v "Ring dermoid of cornea" ] ] [ fhir:code [ fhir:v "91483" ] ; fhir:display [ fhir:v "Rieger anomaly" ] ] [ fhir:code [ fhir:v "91489" ] ; fhir:display [ fhir:v "Isolated congenital megalocornea" ] ] [ fhir:code [ fhir:v "91490" ] ; fhir:display [ fhir:v "Isolated congenital sclerocornea" ] ] [ fhir:code [ fhir:v "91491" ] ; fhir:display [ fhir:v "Congenital ectropion uveae" ] ] [ fhir:code [ fhir:v "91492" ] ; fhir:display [ fhir:v "Early-onset non-syndromic cataract" ] ] [ fhir:code [ fhir:v "91494" ] ; fhir:display [ fhir:v "Macular coloboma-cleft palate-hallux valgus syndrome" ] ] [ fhir:code [ fhir:v "91495" ] ; fhir:display [ fhir:v "Persistent hyperplastic primary vitreous" ] ] [ fhir:code [ fhir:v "91496" ] ; fhir:display [ fhir:v "Snowflake vitreoretinal degeneration" ] ] [ fhir:code [ fhir:v "91498" ] ; fhir:display [ fhir:v "Familial congenital palsy of trochlear nerve" ] ] [ fhir:code [ fhir:v "915" ] ; fhir:display [ fhir:v "Aarskog-Scott syndrome" ] ] [ fhir:code [ fhir:v "91500" ] ; fhir:display [ fhir:v "Tubulointerstitial nephritis and uveitis syndrome" ] ] [ fhir:code [ fhir:v "91546" ] ; fhir:display [ fhir:v "Lyme disease" ] ] [ fhir:code [ fhir:v "91547" ] ; fhir:display [ fhir:v "Relapsing fever" ] ] [ fhir:code [ fhir:v "916" ] ; fhir:display [ fhir:v "Aase-Smith syndrome" ] ] [ fhir:code [ fhir:v "920" ] ; fhir:display [ fhir:v "Ablepharon macrostomia syndrome" ] ] [ fhir:code [ fhir:v "92050" ] ; fhir:display [ fhir:v "Congenital tufting enteropathy" ] ] [ fhir:code [ fhir:v "921" ] ; fhir:display [ fhir:v "Abruzzo-Erickson syndrome" ] ] [ fhir:code [ fhir:v "922" ] ; fhir:display [ fhir:v "Familial nasal acilia" ] ] [ fhir:code [ fhir:v "926" ] ; fhir:display [ fhir:v "Acatalasemia" ] ] [ fhir:code [ fhir:v "927" ] ; fhir:display [ fhir:v "Hyperammonemia due to N-acetylglutamate synthase deficiency" ] ] [ fhir:code [ fhir:v "929" ] ; fhir:display [ fhir:v "Achalasia-microcephaly syndrome" ] ] [ fhir:code [ fhir:v "93" ] ; fhir:display [ fhir:v "Aspartylglucosaminuria" ] ] [ fhir:code [ fhir:v "930" ] ; fhir:display [ fhir:v "Idiopathic achalasia" ] ] [ fhir:code [ fhir:v "931" ] ; fhir:display [ fhir:v "Acheiropodia" ] ] [ fhir:code [ fhir:v "93100" ] ; fhir:display [ fhir:v "Renal agenesis, unilateral" ] ] [ fhir:code [ fhir:v "93101" ] ; fhir:display [ fhir:v "Renal hypoplasia" ] ] [ fhir:code [ fhir:v "93108" ] ; fhir:display [ fhir:v "Renal dysplasia" ] ] [ fhir:code [ fhir:v "93109" ] ; fhir:display [ fhir:v "Congenital megacalycosis" ] ] [ fhir:code [ fhir:v "93110" ] ; fhir:display [ fhir:v "Posterior urethral valve" ] ] [ fhir:code [ fhir:v "93111" ] ; fhir:display [ fhir:v "HNF1B-related autosomal dominant tubulointerstitial kidney disease" ] ] [ fhir:code [ fhir:v "93114" ] ; fhir:display [ fhir:v "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E" ] ] [ fhir:code [ fhir:v "93126" ] ; fhir:display [ fhir:v "Pauci-immune glomerulonephritis" ] ] [ fhir:code [ fhir:v "93160" ] ; fhir:display [ fhir:v "Hypocalcemic vitamin D-resistant rickets" ] ] [ fhir:code [ fhir:v "93164" ] ; fhir:display [ fhir:v "Transient pseudohypoaldosteronism" ] ] [ fhir:code [ fhir:v "93172" ] ; fhir:display [ fhir:v "Renal dysplasia, unilateral" ] ] [ fhir:code [ fhir:v "93173" ] ; fhir:display [ fhir:v "Renal dysplasia, bilateral" ] ] [ fhir:code [ fhir:v "93176" ] ; fhir:display [ fhir:v "Unilateral congenital megacalycosis" ] ] [ fhir:code [ fhir:v "93177" ] ; fhir:display [ fhir:v "Congenital bilateral megacalycosis" ] ] [ fhir:code [ fhir:v "932" ] ; fhir:display [ fhir:v "Achondrogenesis" ] ] [ fhir:code [ fhir:v "93256" ] ; fhir:display [ fhir:v "Fragile X-associated tremor/ataxia syndrome" ] ] [ fhir:code [ fhir:v "93258" ] ; fhir:display [ fhir:v "Pfeiffer syndrome type 1" ] ] [ fhir:code [ fhir:v "93259" ] ; fhir:display [ fhir:v "Pfeiffer syndrome type 2" ] ] [ fhir:code [ fhir:v "93260" ] ; fhir:display [ fhir:v "Pfeiffer syndrome type 3" ] ] [ fhir:code [ fhir:v "93262" ] ; fhir:display [ fhir:v "Crouzon syndrome-acanthosis nigricans syndrome" ] ] [ fhir:code [ fhir:v "93267" ] ; fhir:display [ fhir:v "Cloverleaf skull-multiple congenital anomalies syndrome" ] ] [ fhir:code [ fhir:v "93268" ] ; fhir:display [ fhir:v "Short rib-polydactyly syndrome, Beemer-Langer type" ] ] [ fhir:code [ fhir:v "93269" ] ; fhir:display [ fhir:v "Short rib-polydactyly syndrome, Majewski type" ] ] [ fhir:code [ fhir:v "93270" ] ; fhir:display [ fhir:v "Short rib-polydactyly syndrome, Saldino-Noonan type" ] ] [ fhir:code [ fhir:v "93271" ] ; fhir:display [ fhir:v "Short rib-polydactyly syndrome, Verma-Naumoff type" ] ] [ fhir:code [ fhir:v "93274" ] ; fhir:display [ fhir:v "Thanatophoric dysplasia type 2" ] ] [ fhir:code [ fhir:v "93276" ] ; fhir:display [ fhir:v "Polyostotic fibrous dysplasia" ] ] [ fhir:code [ fhir:v "93277" ] ; fhir:display [ fhir:v "Monostotic fibrous dysplasia" ] ] [ fhir:code [ fhir:v "93279" ] ; fhir:display [ fhir:v "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" ] ] [ fhir:code [ fhir:v "93282" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, PAPSS2 type" ] ] [ fhir:code [ fhir:v "93283" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia, Kimberley type" ] ] [ fhir:code [ fhir:v "93284" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia tarda" ] ] [ fhir:code [ fhir:v "93292" ] ; fhir:display [ fhir:v "Adenoma of pancreas" ] ] [ fhir:code [ fhir:v "93293" ] ; fhir:display [ fhir:v "Okihiro syndrome" ] ] [ fhir:code [ fhir:v "93296" ] ; fhir:display [ fhir:v "Achondrogenesis type 2" ] ] [ fhir:code [ fhir:v "93297" ] ; fhir:display [ fhir:v "Hypochondrogenesis" ] ] [ fhir:code [ fhir:v "93298" ] ; fhir:display [ fhir:v "Achondrogenesis type 1B" ] ] [ fhir:code [ fhir:v "93299" ] ; fhir:display [ fhir:v "Achondrogenesis type 1A" ] ] [ fhir:code [ fhir:v "93302" ] ; fhir:display [ fhir:v "Brachyolmia, Maroteaux type" ] ] [ fhir:code [ fhir:v "93304" ] ; fhir:display [ fhir:v "Autosomal dominant brachyolmia" ] ] [ fhir:code [ fhir:v "93307" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia type 4" ] ] [ fhir:code [ fhir:v "93308" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia type 1" ] ] [ fhir:code [ fhir:v "93311" ] ; fhir:display [ fhir:v "Multiple epiphyseal dysplasia type 5" ] ] [ fhir:code [ fhir:v "93314" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia, Kozlowski type" ] ] [ fhir:code [ fhir:v "93315" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia, 'corner fracture' type" ] ] [ fhir:code [ fhir:v "93316" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia, Schmidt type" ] ] [ fhir:code [ fhir:v "93317" ] ; fhir:display [ fhir:v "Spondylometaphyseal dysplasia, Sedaghatian type" ] ] [ fhir:code [ fhir:v "93320" ] ; fhir:display [ fhir:v "Ulnar hemimelia" ] ] [ fhir:code [ fhir:v "93321" ] ; fhir:display [ fhir:v "Radial hemimelia" ] ] [ fhir:code [ fhir:v "93322" ] ; fhir:display [ fhir:v "Tibial hemimelia" ] ] [ fhir:code [ fhir:v "93323" ] ; fhir:display [ fhir:v "Fibular hemimelia" ] ] [ fhir:code [ fhir:v "93324" ] ; fhir:display [ fhir:v "Autosomal recessive Kenny-Caffey syndrome" ] ] [ fhir:code [ fhir:v "93325" ] ; fhir:display [ fhir:v "Autosomal dominant Kenny-Caffey syndrome" ] ] [ fhir:code [ fhir:v "93328" ] ; fhir:display [ fhir:v "Autosomal dominant omodysplasia" ] ] [ fhir:code [ fhir:v "93329" ] ; fhir:display [ fhir:v "Autosomal recessive omodysplasia" ] ] [ fhir:code [ fhir:v "93333" ] ; fhir:display [ fhir:v "Pelviscapular dysplasia" ] ] [ fhir:code [ fhir:v "93334" ] ; fhir:display [ fhir:v "Postaxial polydactyly type A" ] ] [ fhir:code [ fhir:v "93335" ] ; fhir:display [ fhir:v "Postaxial polydactyly type B" ] ] [ fhir:code [ fhir:v "93336" ] ; fhir:display [ fhir:v "Polydactyly of a triphalangeal thumb" ] ] [ fhir:code [ fhir:v "93337" ] ; fhir:display [ fhir:v "Polydactyly of an index finger" ] ] [ fhir:code [ fhir:v "93338" ] ; fhir:display [ fhir:v "Polysyndactyly" ] ] [ fhir:code [ fhir:v "93339" ] ; fhir:display [ fhir:v "Polydactyly of a biphalangeal thumb and/or hallux" ] ] [ fhir:code [ fhir:v "93346" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia congenita, Strudwick type" ] ] [ fhir:code [ fhir:v "93347" ] ; fhir:display [ fhir:v "Anauxetic dysplasia" ] ] [ fhir:code [ fhir:v "93349" ] ; fhir:display [ fhir:v "X-linked spondyloepimetaphyseal dysplasia" ] ] [ fhir:code [ fhir:v "93351" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, Irapa type" ] ] [ fhir:code [ fhir:v "93352" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, Shohat type" ] ] [ fhir:code [ fhir:v "93356" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, Missouri type" ] ] [ fhir:code [ fhir:v "93357" ] ; fhir:display [ fhir:v "SPONASTRIME dysplasia" ] ] [ fhir:code [ fhir:v "93358" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" ] ] [ fhir:code [ fhir:v "93360" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" ] ] [ fhir:code [ fhir:v "93372" ] ; fhir:display [ fhir:v "Familial hypocalciuric hypercalcemia type 1" ] ] [ fhir:code [ fhir:v "93382" ] ; fhir:display [ fhir:v "Brachydactyly type A6" ] ] [ fhir:code [ fhir:v "93383" ] ; fhir:display [ fhir:v "Brachydactyly type B" ] ] [ fhir:code [ fhir:v "93384" ] ; fhir:display [ fhir:v "Brachydactyly type C" ] ] [ fhir:code [ fhir:v "93387" ] ; fhir:display [ fhir:v "Brachydactyly type E" ] ] [ fhir:code [ fhir:v "93388" ] ; fhir:display [ fhir:v "Brachydactyly type A1" ] ] [ fhir:code [ fhir:v "93394" ] ; fhir:display [ fhir:v "Brachydactyly type A4" ] ] [ fhir:code [ fhir:v "93396" ] ; fhir:display [ fhir:v "Brachydactyly type A2" ] ] [ fhir:code [ fhir:v "93397" ] ; fhir:display [ fhir:v "Brachydactyly type A7" ] ] [ fhir:code [ fhir:v "93398" ] ; fhir:display [ fhir:v "Genochondromatosis type 2" ] ] [ fhir:code [ fhir:v "93399" ] ; fhir:display [ fhir:v "Juvenile sialidosis type 2" ] ] [ fhir:code [ fhir:v "93400" ] ; fhir:display [ fhir:v "Congenital sialidosis type 2" ] ] [ fhir:code [ fhir:v "93402" ] ; fhir:display [ fhir:v "Syndactyly type 1" ] ] [ fhir:code [ fhir:v "93403" ] ; fhir:display [ fhir:v "Syndactyly type 2" ] ] [ fhir:code [ fhir:v "93404" ] ; fhir:display [ fhir:v "Syndactyly type 3" ] ] [ fhir:code [ fhir:v "93405" ] ; fhir:display [ fhir:v "Syndactyly type 4" ] ] [ fhir:code [ fhir:v "93406" ] ; fhir:display [ fhir:v "Syndactyly type 5" ] ] [ fhir:code [ fhir:v "93409" ] ; fhir:display [ fhir:v "Brachydactyly-syndactyly, Zhao type" ] ] [ fhir:code [ fhir:v "93473" ] ; fhir:display [ fhir:v "Hurler syndrome" ] ] [ fhir:code [ fhir:v "93474" ] ; fhir:display [ fhir:v "Scheie syndrome" ] ] [ fhir:code [ fhir:v "93476" ] ; fhir:display [ fhir:v "Hurler-Scheie syndrome" ] ] [ fhir:code [ fhir:v "935" ] ; fhir:display [ fhir:v "Short-limb skeletal dysplasia with severe combined immunodeficiency" ] ] [ fhir:code [ fhir:v "93552" ] ; fhir:display [ fhir:v "Pediatric systemic lupus erythematosus" ] ] [ fhir:code [ fhir:v "93554" ] ; fhir:display [ fhir:v "Mixed cryoglobulinemia type II" ] ] [ fhir:code [ fhir:v "93555" ] ; fhir:display [ fhir:v "Mixed cryoglobulinemia type III" ] ] [ fhir:code [ fhir:v "93556" ] ; fhir:display [ fhir:v "Heavy chain deposition disease" ] ] [ fhir:code [ fhir:v "93557" ] ; fhir:display [ fhir:v "Light and heavy chain deposition disease" ] ] [ fhir:code [ fhir:v "93558" ] ; fhir:display [ fhir:v "Light chain deposition disease" ] ] [ fhir:code [ fhir:v "93560" ] ; fhir:display [ fhir:v "AApoAI amyloidosis" ] ] [ fhir:code [ fhir:v "93561" ] ; fhir:display [ fhir:v "ALys amyloidosis" ] ] [ fhir:code [ fhir:v "93562" ] ; fhir:display [ fhir:v "AFib amyloidosis" ] ] [ fhir:code [ fhir:v "93568" ] ; fhir:display [ fhir:v "Juvenile polymyositis" ] ] [ fhir:code [ fhir:v "93569" ] ; fhir:display [ fhir:v "Polymyalgia rheumatica" ] ] [ fhir:code [ fhir:v "93571" ] ; fhir:display [ fhir:v "Dense deposit disease" ] ] [ fhir:code [ fhir:v "93581" ] ; fhir:display [ fhir:v "Atypical hemolytic uremic syndrome with anti-factor H antibodies" ] ] [ fhir:code [ fhir:v "93583" ] ; fhir:display [ fhir:v "Congenital thrombotic thrombocytopenic purpura" ] ] [ fhir:code [ fhir:v "93585" ] ; fhir:display [ fhir:v "Immune-mediated thrombotic thrombocytopenic purpura" ] ] [ fhir:code [ fhir:v "93589" ] ; fhir:display [ fhir:v "Late-onset nephronophthisis" ] ] [ fhir:code [ fhir:v "93591" ] ; fhir:display [ fhir:v "Infantile nephronophthisis" ] ] [ fhir:code [ fhir:v "93592" ] ; fhir:display [ fhir:v "Juvenile nephronophthisis" ] ] [ fhir:code [ fhir:v "93598" ] ; fhir:display [ fhir:v "Primary hyperoxaluria type 1" ] ] [ fhir:code [ fhir:v "93599" ] ; fhir:display [ fhir:v "Primary hyperoxaluria type 2" ] ] [ fhir:code [ fhir:v "93600" ] ; fhir:display [ fhir:v "Primary hyperoxaluria type 3" ] ] [ fhir:code [ fhir:v "93601" ] ; fhir:display [ fhir:v "Xanthinuria type I" ] ] [ fhir:code [ fhir:v "93602" ] ; fhir:display [ fhir:v "Xanthinuria type II" ] ] [ fhir:code [ fhir:v "93605" ] ; fhir:display [ fhir:v "Bartter syndrome type 3" ] ] [ fhir:code [ fhir:v "93606" ] ; fhir:display [ fhir:v "Nephrogenic syndrome of inappropriate antidiuresis" ] ] [ fhir:code [ fhir:v "93607" ] ; fhir:display [ fhir:v "Autosomal recessive proximal renal tubular acidosis" ] ] [ fhir:code [ fhir:v "93608" ] ; fhir:display [ fhir:v "Autosomal dominant distal renal tubular acidosis" ] ] [ fhir:code [ fhir:v "93610" ] ; fhir:display [ fhir:v "Distal renal tubular acidosis with anemia" ] ] [ fhir:code [ fhir:v "93612" ] ; fhir:display [ fhir:v "Cystinuria type A" ] ] [ fhir:code [ fhir:v "93613" ] ; fhir:display [ fhir:v "Cystinuria type B" ] ] [ fhir:code [ fhir:v "93616" ] ; fhir:display [ fhir:v "Hemoglobin H disease" ] ] [ fhir:code [ fhir:v "93622" ] ; fhir:display [ fhir:v "Dent disease type 1" ] ] [ fhir:code [ fhir:v "93623" ] ; fhir:display [ fhir:v "Dent disease type 2" ] ] [ fhir:code [ fhir:v "93672" ] ; fhir:display [ fhir:v "Juvenile dermatomyositis" ] ] [ fhir:code [ fhir:v "93685" ] ; fhir:display [ fhir:v "Unicentric Castleman disease" ] ] [ fhir:code [ fhir:v "939" ] ; fhir:display [ fhir:v "3-hydroxyisobutyric aciduria" ] ] [ fhir:code [ fhir:v "93921" ] ; fhir:display [ fhir:v "Full schwannomatosis" ] ] [ fhir:code [ fhir:v "93924" ] ; fhir:display [ fhir:v "Lobar holoprosencephaly" ] ] [ fhir:code [ fhir:v "93925" ] ; fhir:display [ fhir:v "Alobar holoprosencephaly" ] ] [ fhir:code [ fhir:v "93926" ] ; fhir:display [ fhir:v "Midline interhemispheric variant of holoprosencephaly" ] ] [ fhir:code [ fhir:v "93928" ] ; fhir:display [ fhir:v "Isolated epispadias" ] ] [ fhir:code [ fhir:v "93929" ] ; fhir:display [ fhir:v "Cloacal exstrophy" ] ] [ fhir:code [ fhir:v "93930" ] ; fhir:display [ fhir:v "Bladder exstrophy" ] ] [ fhir:code [ fhir:v "93932" ] ; fhir:display [ fhir:v "FG syndrome type 1" ] ] [ fhir:code [ fhir:v "93938" ] ; fhir:display [ fhir:v "Laryngotracheoesophageal cleft type 1" ] ] [ fhir:code [ fhir:v "93939" ] ; fhir:display [ fhir:v "Laryngotracheoesophageal cleft type 2" ] ] [ fhir:code [ fhir:v "93940" ] ; fhir:display [ fhir:v "Laryngotracheoesophageal cleft type 3" ] ] [ fhir:code [ fhir:v "93941" ] ; fhir:display [ fhir:v "Laryngotracheoesophageal cleft type 4" ] ] [ fhir:code [ fhir:v "93945" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Porteous type" ] ] [ fhir:code [ fhir:v "93946" ] ; fhir:display [ fhir:v "Hamel cerebro-palato-cardiac syndrome" ] ] [ fhir:code [ fhir:v "93947" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Golabi-Ito-Hall type" ] ] [ fhir:code [ fhir:v "93950" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Sutherland-Haan type" ] ] [ fhir:code [ fhir:v "93952" ] ; fhir:display [ fhir:v "X-linked intellectual disability, Hedera type" ] ] [ fhir:code [ fhir:v "93953" ] ; fhir:display [ fhir:v "Familial thyroglossal duct cyst" ] ] [ fhir:code [ fhir:v "93958" ] ; fhir:display [ fhir:v "Oromandibular dystonia" ] ] [ fhir:code [ fhir:v "93964" ] ; fhir:display [ fhir:v "Blepharospasm-oromandibular dystonia syndrome" ] ] [ fhir:code [ fhir:v "93969" ] ; fhir:display [ fhir:v "Open spinal dysraphism with a myelomeningocele" ] ] [ fhir:code [ fhir:v "93976" ] ; fhir:display [ fhir:v "Anotia" ] ] [ fhir:code [ fhir:v "94056" ] ; fhir:display [ fhir:v "Humero-ulnar synostosis" ] ] [ fhir:code [ fhir:v "94058" ] ; fhir:display [ fhir:v "Neovascular glaucoma" ] ] [ fhir:code [ fhir:v "94059" ] ; fhir:display [ fhir:v "Uremic pruritus" ] ] [ fhir:code [ fhir:v "94063" ] ; fhir:display [ fhir:v "12q14 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "94064" ] ; fhir:display [ fhir:v "Deafness-infertility syndrome" ] ] [ fhir:code [ fhir:v "94065" ] ; fhir:display [ fhir:v "15q24 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "94066" ] ; fhir:display [ fhir:v "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia" ] ] [ fhir:code [ fhir:v "94068" ] ; fhir:display [ fhir:v "Spondyloepiphyseal dysplasia congenita" ] ] [ fhir:code [ fhir:v "94080" ] ; fhir:display [ fhir:v "Non-functioning paraganglioma" ] ] [ fhir:code [ fhir:v "94083" ] ; fhir:display [ fhir:v "Partington syndrome" ] ] [ fhir:code [ fhir:v "94086" ] ; fhir:display [ fhir:v "Blue diaper syndrome" ] ] [ fhir:code [ fhir:v "94087" ] ; fhir:display [ fhir:v "Cytophagic histiocytic panniculitis" ] ] [ fhir:code [ fhir:v "94088" ] ; fhir:display [ fhir:v "Hereditary renal hypouricemia" ] ] [ fhir:code [ fhir:v "94089" ] ; fhir:display [ fhir:v "Pseudohypoparathyroidism type 1B" ] ] [ fhir:code [ fhir:v "94090" ] ; fhir:display [ fhir:v "Pseudohypoparathyroidism type 2" ] ] [ fhir:code [ fhir:v "94091" ] ; fhir:display [ fhir:v "Mills syndrome" ] ] [ fhir:code [ fhir:v "94093" ] ; fhir:display [ fhir:v "Neuroleptic malignant syndrome" ] ] [ fhir:code [ fhir:v "941" ] ; fhir:display [ fhir:v "D-glyceric aciduria" ] ] [ fhir:code [ fhir:v "94122" ] ; fhir:display [ fhir:v "Cerebellar ataxia, Cayman type" ] ] [ fhir:code [ fhir:v "94124" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia with axonal neuropathy type 1" ] ] [ fhir:code [ fhir:v "94125" ] ; fhir:display [ fhir:v "Recessive mitochondrial ataxia syndrome" ] ] [ fhir:code [ fhir:v "94147" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 7" ] ] [ fhir:code [ fhir:v "94150" ] ; fhir:display [ fhir:v "Anonychia congenita totalis" ] ] [ fhir:code [ fhir:v "943" ] ; fhir:display [ fhir:v "Malonic aciduria" ] ] [ fhir:code [ fhir:v "945" ] ; fhir:display [ fhir:v "Acalvaria" ] ] [ fhir:code [ fhir:v "949" ] ; fhir:display [ fhir:v "Acrocraniofacial dysostosis" ] ] [ fhir:code [ fhir:v "95" ] ; fhir:display [ fhir:v "Friedreich ataxia" ] ] [ fhir:code [ fhir:v "950" ] ; fhir:display [ fhir:v "Acrodysostosis" ] ] [ fhir:code [ fhir:v "95159" ] ; fhir:display [ fhir:v "Hepatoerythropoietic porphyria" ] ] [ fhir:code [ fhir:v "952" ] ; fhir:display [ fhir:v "Acrofacial dysostosis, Weyers type" ] ] [ fhir:code [ fhir:v "95232" ] ; fhir:display [ fhir:v "Lissencephaly due to LIS1 mutation" ] ] [ fhir:code [ fhir:v "95409" ] ; fhir:display [ fhir:v "Acute adrenal insufficiency" ] ] [ fhir:code [ fhir:v "95427" ] ; fhir:display [ fhir:v "Secondary short bowel syndrome" ] ] [ fhir:code [ fhir:v "95428" ] ; fhir:display [ fhir:v "COG8-CDG" ] ] [ fhir:code [ fhir:v "95429" ] ; fhir:display [ fhir:v "Angioma serpiginosum" ] ] [ fhir:code [ fhir:v "95430" ] ; fhir:display [ fhir:v "Congenital tracheomalacia" ] ] [ fhir:code [ fhir:v "95431" ] ; fhir:display [ fhir:v "Twin to twin transfusion syndrome" ] ] [ fhir:code [ fhir:v "95433" ] ; fhir:display [ fhir:v "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" ] ] [ fhir:code [ fhir:v "95434" ] ; fhir:display [ fhir:v "Autosomal recessive cerebellar ataxia-movement disorder syndrome" ] ] [ fhir:code [ fhir:v "95443" ] ; fhir:display [ fhir:v "Mesocardia" ] ] [ fhir:code [ fhir:v "95448" ] ; fhir:display [ fhir:v "Congenital aortic valve atresia" ] ] [ fhir:code [ fhir:v "95455" ] ; fhir:display [ fhir:v "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" ] ] [ fhir:code [ fhir:v "95457" ] ; fhir:display [ fhir:v "Tricuspid valve agenesis" ] ] [ fhir:code [ fhir:v "95459" ] ; fhir:display [ fhir:v "Congenital tricuspid stenosis" ] ] [ fhir:code [ fhir:v "95461" ] ; fhir:display [ fhir:v "Straddling or overriding tricuspid valve" ] ] [ fhir:code [ fhir:v "95462" ] ; fhir:display [ fhir:v "Accessory tricuspid valve tissue" ] ] [ fhir:code [ fhir:v "95465" ] ; fhir:display [ fhir:v "Cleft mitral valve" ] ] [ fhir:code [ fhir:v "95474" ] ; fhir:display [ fhir:v "Double-orifice mitral valve" ] ] [ fhir:code [ fhir:v "95486" ] ; fhir:display [ fhir:v "Premature closure of the arterial duct" ] ] [ fhir:code [ fhir:v "95491" ] ; fhir:display [ fhir:v "Congenital coronary artery aneurysm" ] ] [ fhir:code [ fhir:v "95494" ] ; fhir:display [ fhir:v "Combined pituitary hormone deficiencies, genetic forms" ] ] [ fhir:code [ fhir:v "95496" ] ; fhir:display [ fhir:v "Pituitary stalk interruption syndrome" ] ] [ fhir:code [ fhir:v "955" ] ; fhir:display [ fhir:v "Hajdu-Cheney syndrome" ] ] [ fhir:code [ fhir:v "95507" ] ; fhir:display [ fhir:v "Congenital anomaly of hepatic vein" ] ] [ fhir:code [ fhir:v "95512" ] ; fhir:display [ fhir:v "Adenohypophysitis" ] ] [ fhir:code [ fhir:v "95513" ] ; fhir:display [ fhir:v "Panhypophysitis" ] ] [ fhir:code [ fhir:v "95613" ] ; fhir:display [ fhir:v "Pituitary apoplexy" ] ] [ fhir:code [ fhir:v "95619" ] ; fhir:display [ fhir:v "Post-traumatic pituitary deficiency" ] ] [ fhir:code [ fhir:v "95626" ] ; fhir:display [ fhir:v "Acquired central diabetes insipidus" ] ] [ fhir:code [ fhir:v "95699" ] ; fhir:display [ fhir:v "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" ] ] [ fhir:code [ fhir:v "957" ] ; fhir:display [ fhir:v "Acropectorovertebral dysplasia" ] ] [ fhir:code [ fhir:v "95700" ] ; fhir:display [ fhir:v "Familial adrenal hypoplasia with absent pituitary luteinizing hormone" ] ] [ fhir:code [ fhir:v "95702" ] ; fhir:display [ fhir:v "X-linked adrenal hypoplasia congenita" ] ] [ fhir:code [ fhir:v "95706" ] ; fhir:display [ fhir:v "Non-syndromic posterior hypospadias" ] ] [ fhir:code [ fhir:v "95707" ] ; fhir:display [ fhir:v "Idiopathic isolated micropenis" ] ] [ fhir:code [ fhir:v "95712" ] ; fhir:display [ fhir:v "Thyroid ectopia" ] ] [ fhir:code [ fhir:v "95713" ] ; fhir:display [ fhir:v "Athyreosis" ] ] [ fhir:code [ fhir:v "95715" ] ; fhir:display [ fhir:v "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies" ] ] [ fhir:code [ fhir:v "95716" ] ; fhir:display [ fhir:v "Familial thyroid dyshormonogenesis" ] ] [ fhir:code [ fhir:v "95717" ] ; fhir:display [ fhir:v "Idiopathic congenital hypothyroidism" ] ] [ fhir:code [ fhir:v "95719" ] ; fhir:display [ fhir:v "Thyroid hemiagenesis" ] ] [ fhir:code [ fhir:v "95720" ] ; fhir:display [ fhir:v "Thyroid hypoplasia" ] ] [ fhir:code [ fhir:v "958" ] ; fhir:display [ fhir:v "Acro-renal-mandibular syndrome" ] ] [ fhir:code [ fhir:v "95854" ] ; fhir:display [ fhir:v "Levocardia" ] ] [ fhir:code [ fhir:v "959" ] ; fhir:display [ fhir:v "Acro-renal-ocular syndrome" ] ] [ fhir:code [ fhir:v "96" ] ; fhir:display [ fhir:v "Ataxia with vitamin E deficiency" ] ] [ fhir:code [ fhir:v "96055" ] ; fhir:display [ fhir:v "Tetrasomy 21" ] ] [ fhir:code [ fhir:v "96059" ] ; fhir:display [ fhir:v "Mosaic trisomy 4" ] ] [ fhir:code [ fhir:v "96060" ] ; fhir:display [ fhir:v "Mosaic trisomy 5" ] ] [ fhir:code [ fhir:v "96061" ] ; fhir:display [ fhir:v "Mosaic trisomy 8" ] ] [ fhir:code [ fhir:v "96063" ] ; fhir:display [ fhir:v "Mosaic trisomy 10" ] ] [ fhir:code [ fhir:v "96068" ] ; fhir:display [ fhir:v "Mosaic trisomy 22" ] ] [ fhir:code [ fhir:v "96069" ] ; fhir:display [ fhir:v "Distal duplication 1p36" ] ] [ fhir:code [ fhir:v "96070" ] ; fhir:display [ fhir:v "Distal duplication 2p" ] ] [ fhir:code [ fhir:v "96071" ] ; fhir:display [ fhir:v "Distal duplication 3p" ] ] [ fhir:code [ fhir:v "96072" ] ; fhir:display [ fhir:v "4p16.3 microduplication syndrome" ] ] [ fhir:code [ fhir:v "96074" ] ; fhir:display [ fhir:v "Distal duplication 7p" ] ] [ fhir:code [ fhir:v "96076" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome due to 11p15 microduplication" ] ] [ fhir:code [ fhir:v "96078" ] ; fhir:display [ fhir:v "16p13.3 microduplication syndrome" ] ] [ fhir:code [ fhir:v "96092" ] ; fhir:display [ fhir:v "8p inverted duplication/deletion syndrome" ] ] [ fhir:code [ fhir:v "96094" ] ; fhir:display [ fhir:v "Distal duplication 2q" ] ] [ fhir:code [ fhir:v "96095" ] ; fhir:display [ fhir:v "3q26 microduplication syndrome" ] ] [ fhir:code [ fhir:v "96096" ] ; fhir:display [ fhir:v "Distal duplication 4q" ] ] [ fhir:code [ fhir:v "96097" ] ; fhir:display [ fhir:v "Distal duplication 5q" ] ] [ fhir:code [ fhir:v "96098" ] ; fhir:display [ fhir:v "Distal duplication 6q" ] ] [ fhir:code [ fhir:v "96100" ] ; fhir:display [ fhir:v "Distal duplication 8q" ] ] [ fhir:code [ fhir:v "96101" ] ; fhir:display [ fhir:v "Distal duplication 9q" ] ] [ fhir:code [ fhir:v "96102" ] ; fhir:display [ fhir:v "Distal duplication 10q" ] ] [ fhir:code [ fhir:v "96103" ] ; fhir:display [ fhir:v "Distal duplication 11q" ] ] [ fhir:code [ fhir:v "96105" ] ; fhir:display [ fhir:v "Distal duplication 13q" ] ] [ fhir:code [ fhir:v "96106" ] ; fhir:display [ fhir:v "Distal duplication 16q" ] ] [ fhir:code [ fhir:v "96107" ] ; fhir:display [ fhir:v "Distal duplication 20q" ] ] [ fhir:code [ fhir:v "96109" ] ; fhir:display [ fhir:v "Distal duplication 22q" ] ] [ fhir:code [ fhir:v "96112" ] ; fhir:display [ fhir:v "Non-distal duplication 9q" ] ] [ fhir:code [ fhir:v "96121" ] ; fhir:display [ fhir:v "7q11.23 microduplication syndrome" ] ] [ fhir:code [ fhir:v "96123" ] ; fhir:display [ fhir:v "Monosomy 22" ] ] [ fhir:code [ fhir:v "96125" ] ; fhir:display [ fhir:v "Distal deletion 6p" ] ] [ fhir:code [ fhir:v "96126" ] ; fhir:display [ fhir:v "Distal deletion 7p" ] ] [ fhir:code [ fhir:v "96129" ] ; fhir:display [ fhir:v "Distal deletion 19p" ] ] [ fhir:code [ fhir:v "96145" ] ; fhir:display [ fhir:v "Distal deletion 4q" ] ] [ fhir:code [ fhir:v "96147" ] ; fhir:display [ fhir:v "Kleefstra syndrome due to 9q34 microdeletion" ] ] [ fhir:code [ fhir:v "96148" ] ; fhir:display [ fhir:v "Distal deletion 10q" ] ] [ fhir:code [ fhir:v "96149" ] ; fhir:display [ fhir:v "Distal deletion 12q" ] ] [ fhir:code [ fhir:v "96150" ] ; fhir:display [ fhir:v "Distal deletion 14q" ] ] [ fhir:code [ fhir:v "96160" ] ; fhir:display [ fhir:v "Non-distal deletion 12q" ] ] [ fhir:code [ fhir:v "96167" ] ; fhir:display [ fhir:v "Recombinant 8 syndrome" ] ] [ fhir:code [ fhir:v "96168" ] ; fhir:display [ fhir:v "Monosomy 13q34" ] ] [ fhir:code [ fhir:v "96169" ] ; fhir:display [ fhir:v "Koolen-De Vries syndrome" ] ] [ fhir:code [ fhir:v "96170" ] ; fhir:display [ fhir:v "Emanuel syndrome" ] ] [ fhir:code [ fhir:v "96171" ] ; fhir:display [ fhir:v "Ring chromosome 2 syndrome" ] ] [ fhir:code [ fhir:v "96172" ] ; fhir:display [ fhir:v "Ring chromosome 3 syndrome" ] ] [ fhir:code [ fhir:v "96173" ] ; fhir:display [ fhir:v "Ring chromosome 9 syndrome" ] ] [ fhir:code [ fhir:v "96175" ] ; fhir:display [ fhir:v "Ring chromosome 11 syndrome" ] ] [ fhir:code [ fhir:v "96176" ] ; fhir:display [ fhir:v "Ring chromosome 13 syndrome" ] ] [ fhir:code [ fhir:v "96177" ] ; fhir:display [ fhir:v "Ring chromosome 15 syndrome" ] ] [ fhir:code [ fhir:v "96178" ] ; fhir:display [ fhir:v "Ring chromosome 16 syndrome" ] ] [ fhir:code [ fhir:v "96179" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 2" ] ] [ fhir:code [ fhir:v "96180" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 4" ] ] [ fhir:code [ fhir:v "96181" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 6" ] ] [ fhir:code [ fhir:v "96182" ] ; fhir:display [ fhir:v "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7" ] ] [ fhir:code [ fhir:v "96183" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 9" ] ] [ fhir:code [ fhir:v "96184" ] ; fhir:display [ fhir:v "Temple syndrome due to maternal uniparental disomy of chromosome 14" ] ] [ fhir:code [ fhir:v "96185" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 16" ] ] [ fhir:code [ fhir:v "96186" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 20" ] ] [ fhir:code [ fhir:v "96187" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 21" ] ] [ fhir:code [ fhir:v "96188" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 22" ] ] [ fhir:code [ fhir:v "96190" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome 5" ] ] [ fhir:code [ fhir:v "96191" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome 6" ] ] [ fhir:code [ fhir:v "96192" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome 7" ] ] [ fhir:code [ fhir:v "96193" ] ; fhir:display [ fhir:v "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11" ] ] [ fhir:code [ fhir:v "96194" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome 20" ] ] [ fhir:code [ fhir:v "96195" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome 21" ] ] [ fhir:code [ fhir:v "96201" ] ; fhir:display [ fhir:v "X small rings" ] ] [ fhir:code [ fhir:v "96253" ] ; fhir:display [ fhir:v "Cushing disease" ] ] [ fhir:code [ fhir:v "96263" ] ; fhir:display [ fhir:v "48,XXXY syndrome" ] ] [ fhir:code [ fhir:v "96264" ] ; fhir:display [ fhir:v "49,XXXXY syndrome" ] ] [ fhir:code [ fhir:v "96265" ] ; fhir:display [ fhir:v "Leydig cell hypoplasia due to complete LH resistance" ] ] [ fhir:code [ fhir:v "96266" ] ; fhir:display [ fhir:v "Leydig cell hypoplasia due to partial LH resistance" ] ] [ fhir:code [ fhir:v "96269" ] ; fhir:display [ fhir:v "Isolated partial vaginal agenesis" ] ] [ fhir:code [ fhir:v "963" ] ; fhir:display [ fhir:v "Acromegaly" ] ] [ fhir:code [ fhir:v "96334" ] ; fhir:display [ fhir:v "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14" ] ] [ fhir:code [ fhir:v "968" ] ; fhir:display [ fhir:v "Acromesomelic dysplasia, Hunter-Thompson type" ] ] [ fhir:code [ fhir:v "969" ] ; fhir:display [ fhir:v "Acromicric dysplasia" ] ] [ fhir:code [ fhir:v "97" ] ; fhir:display [ fhir:v "Familial paroxysmal ataxia" ] ] [ fhir:code [ fhir:v "970" ] ; fhir:display [ fhir:v "Hereditary sensory and autonomic neuropathy type 2" ] ] [ fhir:code [ fhir:v "971" ] ; fhir:display [ fhir:v "Acrorenal syndrome" ] ] [ fhir:code [ fhir:v "972" ] ; fhir:display [ fhir:v "Hereditary continuous muscle fiber activity" ] ] [ fhir:code [ fhir:v "97214" ] ; fhir:display [ fhir:v "Eisenmenger syndrome" ] ] [ fhir:code [ fhir:v "97229" ] ; fhir:display [ fhir:v "Riboflavin transporter deficiency" ] ] [ fhir:code [ fhir:v "97230" ] ; fhir:display [ fhir:v "Solar urticaria" ] ] [ fhir:code [ fhir:v "97232" ] ; fhir:display [ fhir:v "Fingerprint body myopathy" ] ] [ fhir:code [ fhir:v "97234" ] ; fhir:display [ fhir:v "Glycogen storage disease due to phosphoglycerate mutase deficiency" ] ] [ fhir:code [ fhir:v "97238" ] ; fhir:display [ fhir:v "Rippling muscle disease" ] ] [ fhir:code [ fhir:v "97239" ] ; fhir:display [ fhir:v "Reducing body myopathy" ] ] [ fhir:code [ fhir:v "97240" ] ; fhir:display [ fhir:v "Zebra body myopathy" ] ] [ fhir:code [ fhir:v "97244" ] ; fhir:display [ fhir:v "Rigid spine syndrome" ] ] [ fhir:code [ fhir:v "97249" ] ; fhir:display [ fhir:v "Pontocerebellar hypoplasia type 3" ] ] [ fhir:code [ fhir:v "97252" ] ; fhir:display [ fhir:v "Mega-cisterna magna" ] ] [ fhir:code [ fhir:v "97261" ] ; fhir:display [ fhir:v "GRFoma" ] ] [ fhir:code [ fhir:v "97278" ] ; fhir:display [ fhir:v "PPoma" ] ] [ fhir:code [ fhir:v "97279" ] ; fhir:display [ fhir:v "Insulinoma" ] ] [ fhir:code [ fhir:v "97280" ] ; fhir:display [ fhir:v "Glucagonoma" ] ] [ fhir:code [ fhir:v "97282" ] ; fhir:display [ fhir:v "VIPoma" ] ] [ fhir:code [ fhir:v "97283" ] ; fhir:display [ fhir:v "Somatostatinoma" ] ] [ fhir:code [ fhir:v "97285" ] ; fhir:display [ fhir:v "Thyroid lymphoma" ] ] [ fhir:code [ fhir:v "97286" ] ; fhir:display [ fhir:v "Carney-Stratakis syndrome" ] ] [ fhir:code [ fhir:v "97287" ] ; fhir:display [ fhir:v "Bronchial neuroendocrine tumor" ] ] [ fhir:code [ fhir:v "97289" ] ; fhir:display [ fhir:v "Thymic neuroendocrine tumor" ] ] [ fhir:code [ fhir:v "97290" ] ; fhir:display [ fhir:v "Familial papillary thyroid carcinoma with renal papillary neoplasia" ] ] [ fhir:code [ fhir:v "97292" ] ; fhir:display [ fhir:v "Cardiogenic shock" ] ] [ fhir:code [ fhir:v "97297" ] ; fhir:display [ fhir:v "Bohring-Opitz syndrome" ] ] [ fhir:code [ fhir:v "973" ] ; fhir:display [ fhir:v "Congenital absence/hypoplasia of fingers excluding thumb, unilateral" ] ] [ fhir:code [ fhir:v "97330" ] ; fhir:display [ fhir:v "Thoracic outlet syndrome" ] ] [ fhir:code [ fhir:v "97332" ] ; fhir:display [ fhir:v "Kienbock disease" ] ] [ fhir:code [ fhir:v "97335" ] ; fhir:display [ fhir:v "Osgood-Schlatter disease" ] ] [ fhir:code [ fhir:v "97336" ] ; fhir:display [ fhir:v "Panner disease" ] ] [ fhir:code [ fhir:v "97337" ] ; fhir:display [ fhir:v "Sinding-Larsen-Johansson disease" ] ] [ fhir:code [ fhir:v "97338" ] ; fhir:display [ fhir:v "Melanoma of soft tissue" ] ] [ fhir:code [ fhir:v "97339" ] ; fhir:display [ fhir:v "Dural sinus malformation" ] ] [ fhir:code [ fhir:v "97340" ] ; fhir:display [ fhir:v "Hunter-McAlpine syndrome" ] ] [ fhir:code [ fhir:v "97341" ] ; fhir:display [ fhir:v "Persistent placoid maculopathy" ] ] [ fhir:code [ fhir:v "97345" ] ; fhir:display [ fhir:v "ABri amyloidosis" ] ] [ fhir:code [ fhir:v "97346" ] ; fhir:display [ fhir:v "ADan amyloidosis" ] ] [ fhir:code [ fhir:v "97349" ] ; fhir:display [ fhir:v "Postencephalitic parkinsonism" ] ] [ fhir:code [ fhir:v "97352" ] ; fhir:display [ fhir:v "Pellagra" ] ] [ fhir:code [ fhir:v "97353" ] ; fhir:display [ fhir:v "Dementia pugilistica" ] ] [ fhir:code [ fhir:v "97355" ] ; fhir:display [ fhir:v "Caribbean parkinsonism" ] ] [ fhir:code [ fhir:v "97360" ] ; fhir:display [ fhir:v "Robinow syndrome" ] ] [ fhir:code [ fhir:v "97361" ] ; fhir:display [ fhir:v "Renal hypoplasia, unilateral" ] ] [ fhir:code [ fhir:v "97362" ] ; fhir:display [ fhir:v "Renal hypoplasia, bilateral" ] ] [ fhir:code [ fhir:v "97363" ] ; fhir:display [ fhir:v "Unilateral multicystic dysplastic kidney" ] ] [ fhir:code [ fhir:v "97364" ] ; fhir:display [ fhir:v "Bilateral multicystic dysplastic kidney" ] ] [ fhir:code [ fhir:v "97366" ] ; fhir:display [ fhir:v "Multiloculated renal cyst" ] ] [ fhir:code [ fhir:v "97367" ] ; fhir:display [ fhir:v "Renal tubular dysgenesis due to twin-twin transfusion" ] ] [ fhir:code [ fhir:v "97368" ] ; fhir:display [ fhir:v "Drug-related renal tubular dysgenesis" ] ] [ fhir:code [ fhir:v "97369" ] ; fhir:display [ fhir:v "Renal tubular dysgenesis of genetic origin" ] ] [ fhir:code [ fhir:v "974" ] ; fhir:display [ fhir:v "Adams-Oliver syndrome" ] ] [ fhir:code [ fhir:v "97548" ] ; fhir:display [ fhir:v "Right sided atrial isomerism" ] ] [ fhir:code [ fhir:v "97560" ] ; fhir:display [ fhir:v "Primary membranous glomerulonephritis" ] ] [ fhir:code [ fhir:v "97563" ] ; fhir:display [ fhir:v "Pauci-immune glomerulonephritis with ANCA" ] ] [ fhir:code [ fhir:v "97564" ] ; fhir:display [ fhir:v "Pauci-immune glomerulonephritis without ANCA" ] ] [ fhir:code [ fhir:v "97566" ] ; fhir:display [ fhir:v "Non-amyloid fibrillary glomerulopathy" ] ] [ fhir:code [ fhir:v "97567" ] ; fhir:display [ fhir:v "Immunotactoid glomerulopathy" ] ] [ fhir:code [ fhir:v "97598" ] ; fhir:display [ fhir:v "Congenital renal artery stenosis" ] ] [ fhir:code [ fhir:v "976" ] ; fhir:display [ fhir:v "Adenine phosphoribosyltransferase deficiency" ] ] [ fhir:code [ fhir:v "97678" ] ; fhir:display [ fhir:v "Maternal uniparental disomy of chromosome 13" ] ] [ fhir:code [ fhir:v "97685" ] ; fhir:display [ fhir:v "17q11 microdeletion syndrome" ] ] [ fhir:code [ fhir:v "977" ] ; fhir:display [ fhir:v "Adrenomyodystrophy" ] ] [ fhir:code [ fhir:v "978" ] ; fhir:display [ fhir:v "ADULT syndrome" ] ] [ fhir:code [ fhir:v "98" ] ; fhir:display [ fhir:v "Autosomal recessive spastic ataxia of Charlevoix-Saguenay" ] ] [ fhir:code [ fhir:v "980" ] ; fhir:display [ fhir:v "Absence of the pulmonary artery" ] ] [ fhir:code [ fhir:v "981" ] ; fhir:display [ fhir:v "Internal carotid absence" ] ] [ fhir:code [ fhir:v "98267" ] ; fhir:display [ fhir:v "Genetic non-syndromic obesity" ] ] [ fhir:code [ fhir:v "983" ] ; fhir:display [ fhir:v "Testicular regression syndrome" ] ] [ fhir:code [ fhir:v "984" ] ; fhir:display [ fhir:v "Pulmonary agenesis" ] ] [ fhir:code [ fhir:v "98434" ] ; fhir:display [ fhir:v "Hereditary combined deficiency of vitamin K-dependent clotting factors" ] ] [ fhir:code [ fhir:v "98606" ] ; fhir:display [ fhir:v "Syndromic orbital border hypoplasia" ] ] [ fhir:code [ fhir:v "98619" ] ; fhir:display [ fhir:v "Rare isolated myopia" ] ] [ fhir:code [ fhir:v "98673" ] ; fhir:display [ fhir:v "Autosomal dominant optic atrophy, classic form" ] ] [ fhir:code [ fhir:v "98676" ] ; fhir:display [ fhir:v "Autosomal recessive isolated optic atrophy" ] ] [ fhir:code [ fhir:v "98686" ] ; fhir:display [ fhir:v "Congenital trochlear nerve palsy" ] ] [ fhir:code [ fhir:v "98754" ] ; fhir:display [ fhir:v "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15" ] ] [ fhir:code [ fhir:v "98755" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 1" ] ] [ fhir:code [ fhir:v "98756" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 2" ] ] [ fhir:code [ fhir:v "98757" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 3" ] ] [ fhir:code [ fhir:v "98758" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 6" ] ] [ fhir:code [ fhir:v "98759" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 17" ] ] [ fhir:code [ fhir:v "98760" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 8" ] ] [ fhir:code [ fhir:v "98761" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 10" ] ] [ fhir:code [ fhir:v "98762" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 12" ] ] [ fhir:code [ fhir:v "98763" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 14" ] ] [ fhir:code [ fhir:v "98764" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 27" ] ] [ fhir:code [ fhir:v "98765" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 4" ] ] [ fhir:code [ fhir:v "98766" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 5" ] ] [ fhir:code [ fhir:v "98767" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 11" ] ] [ fhir:code [ fhir:v "98768" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 13" ] ] [ fhir:code [ fhir:v "98769" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 15/16" ] ] [ fhir:code [ fhir:v "98771" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 18" ] ] [ fhir:code [ fhir:v "98772" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 19/22" ] ] [ fhir:code [ fhir:v "98773" ] ; fhir:display [ fhir:v "Spinocerebellar ataxia type 21" ] ] [ fhir:code [ fhir:v "98784" ] ; fhir:display [ fhir:v "Autosomal dominant nocturnal frontal lobe epilepsy" ] ] [ fhir:code [ fhir:v "98791" ] ; fhir:display [ fhir:v "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" ] ] [ fhir:code [ fhir:v "98793" ] ; fhir:display [ fhir:v "Prader-Willi syndrome due to paternal 15q11q13 deletion" ] ] [ fhir:code [ fhir:v "98794" ] ; fhir:display [ fhir:v "Angelman syndrome due to maternal 15q11q13 deletion" ] ] [ fhir:code [ fhir:v "98795" ] ; fhir:display [ fhir:v "Angelman syndrome due to paternal uniparental disomy of chromosome 15" ] ] [ fhir:code [ fhir:v "98797" ] ; fhir:display [ fhir:v "Isochromosomy Yp" ] ] [ fhir:code [ fhir:v "98798" ] ; fhir:display [ fhir:v "Isochromosomy Yq" ] ] [ fhir:code [ fhir:v "988" ] ; fhir:display [ fhir:v "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" ] ] [ fhir:code [ fhir:v "98805" ] ; fhir:display [ fhir:v "Primary dystonia, DYT4 type" ] ] [ fhir:code [ fhir:v "98806" ] ; fhir:display [ fhir:v "Primary dystonia, DYT6 type" ] ] [ fhir:code [ fhir:v "98807" ] ; fhir:display [ fhir:v "Primary dystonia, DYT13 type" ] ] [ fhir:code [ fhir:v "98808" ] ; fhir:display [ fhir:v "Autosomal dominant dopa-responsive dystonia" ] ] [ fhir:code [ fhir:v "98809" ] ; fhir:display [ fhir:v "Paroxysmal kinesigenic dyskinesia" ] ] [ fhir:code [ fhir:v "98810" ] ; fhir:display [ fhir:v "Paroxysmal non-kinesigenic dyskinesia" ] ] [ fhir:code [ fhir:v "98811" ] ; fhir:display [ fhir:v "Paroxysmal exertion-induced dyskinesia" ] ] [ fhir:code [ fhir:v "98813" ] ; fhir:display [ fhir:v "Hypohidrotic ectodermal dysplasia with immunodeficiency" ] ] [ fhir:code [ fhir:v "98815" ] ; fhir:display [ fhir:v "Benign childhood occipital epilepsy, Panayiotopoulos type" ] ] [ fhir:code [ fhir:v "98816" ] ; fhir:display [ fhir:v "Benign childhood occipital epilepsy, Gastaut type" ] ] [ fhir:code [ fhir:v "98818" ] ; fhir:display [ fhir:v "Landau-Kleffner syndrome" ] ] [ fhir:code [ fhir:v "98819" ] ; fhir:display [ fhir:v "Familial temporal lobe epilepsy" ] ] [ fhir:code [ fhir:v "98820" ] ; fhir:display [ fhir:v "Familial focal epilepsy with variable foci" ] ] [ fhir:code [ fhir:v "98823" ] ; fhir:display [ fhir:v "Chronic myelomonocytic leukemia" ] ] [ fhir:code [ fhir:v "98824" ] ; fhir:display [ fhir:v "Atypical chronic myeloid leukemia" ] ] [ fhir:code [ fhir:v "98825" ] ; fhir:display [ fhir:v "Unclassified myelodysplastic/myeloproliferative disease" ] ] [ fhir:code [ fhir:v "98826" ] ; fhir:display [ fhir:v "Refractory anemia" ] ] [ fhir:code [ fhir:v "98827" ] ; fhir:display [ fhir:v "Unclassified myelodysplastic syndrome" ] ] [ fhir:code [ fhir:v "98829" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)" ] ] [ fhir:code [ fhir:v "98831" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with 11q23 abnormalities" ] ] [ fhir:code [ fhir:v "98832" ] ; fhir:display [ fhir:v "Acute myeloid leukemia with minimal differentiation" ] ] [ fhir:code [ fhir:v "98833" ] ; fhir:display [ fhir:v "Acute myeloblastic leukemia without maturation" ] ] [ fhir:code [ fhir:v "98834" ] ; fhir:display [ fhir:v "Acute myeloblastic leukemia with maturation" ] ] [ fhir:code [ fhir:v "98835" ] ; fhir:display [ fhir:v "Acute undifferentiated leukemia" ] ] [ fhir:code [ fhir:v "98838" ] ; fhir:display [ fhir:v "Primary mediastinal large B-cell lymphoma" ] ] [ fhir:code [ fhir:v "98839" ] ; fhir:display [ fhir:v "Intravascular large B-cell lymphoma" ] ] [ fhir:code [ fhir:v "98841" ] ; fhir:display [ fhir:v "Anaplastic large cell lymphoma" ] ] [ fhir:code [ fhir:v "98842" ] ; fhir:display [ fhir:v "Lymphomatoid papulosis" ] ] [ fhir:code [ fhir:v "98843" ] ; fhir:display [ fhir:v "Classic Hodgkin lymphoma, nodular sclerosis type" ] ] [ fhir:code [ fhir:v "98844" ] ; fhir:display [ fhir:v "Classic Hodgkin lymphoma, mixed cellularity type" ] ] [ fhir:code [ fhir:v "98845" ] ; fhir:display [ fhir:v "Classic Hodgkin lymphoma, lymphocyte-rich type" ] ] [ fhir:code [ fhir:v "98846" ] ; fhir:display [ fhir:v "Classic Hodgkin lymphoma, lymphocyte-depleted type" ] ] [ fhir:code [ fhir:v "98848" ] ; fhir:display [ fhir:v "Indolent systemic mastocytosis" ] ] [ fhir:code [ fhir:v "98849" ] ; fhir:display [ fhir:v "Systemic mastocytosis with associated hematologic neoplasm" ] ] [ fhir:code [ fhir:v "98850" ] ; fhir:display [ fhir:v "Aggressive systemic mastocytosis" ] ] [ fhir:code [ fhir:v "98851" ] ; fhir:display [ fhir:v "Mast cell leukemia" ] ] [ fhir:code [ fhir:v "98852" ] ; fhir:display [ fhir:v "Desquamative interstitial pneumonia" ] ] [ fhir:code [ fhir:v "98853" ] ; fhir:display [ fhir:v "Autosomal dominant Emery-Dreifuss muscular dystrophy" ] ] [ fhir:code [ fhir:v "98855" ] ; fhir:display [ fhir:v "Autosomal recessive Emery-Dreifuss muscular dystrophy" ] ] [ fhir:code [ fhir:v "98856" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 2B1" ] ] [ fhir:code [ fhir:v "98863" ] ; fhir:display [ fhir:v "X-linked Emery-Dreifuss muscular dystrophy" ] ] [ fhir:code [ fhir:v "98868" ] ; fhir:display [ fhir:v "Southeast Asian ovalocytosis" ] ] [ fhir:code [ fhir:v "98869" ] ; fhir:display [ fhir:v "Congenital dyserythropoietic anemia type I" ] ] [ fhir:code [ fhir:v "98870" ] ; fhir:display [ fhir:v "Congenital dyserythropoietic anemia type III" ] ] [ fhir:code [ fhir:v "98871" ] ; fhir:display [ fhir:v "Transient erythroblastopenia of childhood" ] ] [ fhir:code [ fhir:v "98872" ] ; fhir:display [ fhir:v "Primary acquired pure red cell aplasia" ] ] [ fhir:code [ fhir:v "98873" ] ; fhir:display [ fhir:v "Congenital dyserythropoietic anemia type II" ] ] [ fhir:code [ fhir:v "98878" ] ; fhir:display [ fhir:v "Hemophilia A" ] ] [ fhir:code [ fhir:v "98879" ] ; fhir:display [ fhir:v "Hemophilia B" ] ] [ fhir:code [ fhir:v "98880" ] ; fhir:display [ fhir:v "Familial afibrinogenemia" ] ] [ fhir:code [ fhir:v "98881" ] ; fhir:display [ fhir:v "Familial dysfibrinogenemia" ] ] [ fhir:code [ fhir:v "98885" ] ; fhir:display [ fhir:v "Bleeding diathesis due to glycoprotein VI deficiency" ] ] [ fhir:code [ fhir:v "98886" ] ; fhir:display [ fhir:v "Bleeding diathesis due to integrin alpha2-beta1 deficiency" ] ] [ fhir:code [ fhir:v "98889" ] ; fhir:display [ fhir:v "Bilateral perisylvian polymicrogyria" ] ] [ fhir:code [ fhir:v "98890" ] ; fhir:display [ fhir:v "Early-onset X-linked optic atrophy" ] ] [ fhir:code [ fhir:v "98892" ] ; fhir:display [ fhir:v "Periventricular nodular heterotopia" ] ] [ fhir:code [ fhir:v "98893" ] ; fhir:display [ fhir:v "Congenital muscular dystrophy type 1B" ] ] [ fhir:code [ fhir:v "98895" ] ; fhir:display [ fhir:v "Becker muscular dystrophy" ] ] [ fhir:code [ fhir:v "98896" ] ; fhir:display [ fhir:v "Duchenne muscular dystrophy" ] ] [ fhir:code [ fhir:v "98897" ] ; fhir:display [ fhir:v "Oculopharyngodistal myopathy" ] ] [ fhir:code [ fhir:v "989" ] ; fhir:display [ fhir:v "Hypoglossia-hypodactyly syndrome" ] ] [ fhir:code [ fhir:v "98902" ] ; fhir:display [ fhir:v "Amish nemaline myopathy" ] ] [ fhir:code [ fhir:v "98904" ] ; fhir:display [ fhir:v "Congenital myopathy with excess of thin filaments" ] ] [ fhir:code [ fhir:v "98905" ] ; fhir:display [ fhir:v "Congenital multicore myopathy with external ophthalmoplegia" ] ] [ fhir:code [ fhir:v "98907" ] ; fhir:display [ fhir:v "Neutral lipid storage disease with ichthyosis" ] ] [ fhir:code [ fhir:v "98908" ] ; fhir:display [ fhir:v "Neutral lipid storage myopathy" ] ] [ fhir:code [ fhir:v "98909" ] ; fhir:display [ fhir:v "Desminopathy" ] ] [ fhir:code [ fhir:v "98911" ] ; fhir:display [ fhir:v "Distal myotilinopathy" ] ] [ fhir:code [ fhir:v "98912" ] ; fhir:display [ fhir:v "Late-onset distal myopathy, Markesbery-Griggs type" ] ] [ fhir:code [ fhir:v "98913" ] ; fhir:display [ fhir:v "Postsynaptic congenital myasthenic syndromes" ] ] [ fhir:code [ fhir:v "98914" ] ; fhir:display [ fhir:v "Presynaptic congenital myasthenic syndromes" ] ] [ fhir:code [ fhir:v "98915" ] ; fhir:display [ fhir:v "Synaptic congenital myasthenic syndromes" ] ] [ fhir:code [ fhir:v "98916" ] ; fhir:display [ fhir:v "Acute inflammatory demyelinating polyradiculoneuropathy" ] ] [ fhir:code [ fhir:v "98917" ] ; fhir:display [ fhir:v "Acute motor and sensory axonal neuropathy" ] ] [ fhir:code [ fhir:v "98918" ] ; fhir:display [ fhir:v "Acute motor axonal neuropathy" ] ] [ fhir:code [ fhir:v "98919" ] ; fhir:display [ fhir:v "Miller Fisher syndrome" ] ] [ fhir:code [ fhir:v "98920" ] ; fhir:display [ fhir:v "Spinal muscular atrophy with respiratory distress type 1" ] ] [ fhir:code [ fhir:v "98922" ] ; fhir:display [ fhir:v "Blake pouch cyst" ] ] [ fhir:code [ fhir:v "98933" ] ; fhir:display [ fhir:v "Multiple system atrophy, parkinsonian type" ] ] [ fhir:code [ fhir:v "98934" ] ; fhir:display [ fhir:v "Huntington disease-like 2" ] ] [ fhir:code [ fhir:v "98938" ] ; fhir:display [ fhir:v "Colobomatous microphthalmia" ] ] [ fhir:code [ fhir:v "98942" ] ; fhir:display [ fhir:v "Coloboma of choroid and retina" ] ] [ fhir:code [ fhir:v "98943" ] ; fhir:display [ fhir:v "Coloboma of eye lens" ] ] [ fhir:code [ fhir:v "98944" ] ; fhir:display [ fhir:v "Coloboma of iris" ] ] [ fhir:code [ fhir:v "98945" ] ; fhir:display [ fhir:v "Coloboma of macula" ] ] [ fhir:code [ fhir:v "98946" ] ; fhir:display [ fhir:v "Coloboma of eyelid" ] ] [ fhir:code [ fhir:v "98947" ] ; fhir:display [ fhir:v "Coloboma of optic disc" ] ] [ fhir:code [ fhir:v "98948" ] ; fhir:display [ fhir:v "Congenital symblepharon" ] ] [ fhir:code [ fhir:v "98949" ] ; fhir:display [ fhir:v "Complete cryptophthalmia" ] ] [ fhir:code [ fhir:v "98950" ] ; fhir:display [ fhir:v "Partial cryptophthalmia" ] ] [ fhir:code [ fhir:v "98951" ] ; fhir:display [ fhir:v "Inverse Marcus-Gunn phenomenon" ] ] [ fhir:code [ fhir:v "98954" ] ; fhir:display [ fhir:v "Meesmann corneal dystrophy" ] ] [ fhir:code [ fhir:v "98955" ] ; fhir:display [ fhir:v "Lisch epithelial corneal dystrophy" ] ] [ fhir:code [ fhir:v "98956" ] ; fhir:display [ fhir:v "Epithelial basement membrane dystrophy" ] ] [ fhir:code [ fhir:v "98957" ] ; fhir:display [ fhir:v "Gelatinous drop-like corneal dystrophy" ] ] [ fhir:code [ fhir:v "98958" ] ; fhir:display [ fhir:v "Climatic droplet keratopathy" ] ] [ fhir:code [ fhir:v "98959" ] ; fhir:display [ fhir:v "Subepithelial mucinous corneal dystrophy" ] ] [ fhir:code [ fhir:v "98960" ] ; fhir:display [ fhir:v "Thiel-Behnke corneal dystrophy" ] ] [ fhir:code [ fhir:v "98961" ] ; fhir:display [ fhir:v "Reis-Bücklers corneal dystrophy" ] ] [ fhir:code [ fhir:v "98962" ] ; fhir:display [ fhir:v "Granular corneal dystrophy type I" ] ] [ fhir:code [ fhir:v "98963" ] ; fhir:display [ fhir:v "Granular corneal dystrophy type II" ] ] [ fhir:code [ fhir:v "98964" ] ; fhir:display [ fhir:v "Lattice corneal dystrophy type I" ] ] [ fhir:code [ fhir:v "98967" ] ; fhir:display [ fhir:v "Schnyder corneal dystrophy" ] ] [ fhir:code [ fhir:v "98969" ] ; fhir:display [ fhir:v "Macular corneal dystrophy" ] ] [ fhir:code [ fhir:v "98970" ] ; fhir:display [ fhir:v "Fleck corneal dystrophy" ] ] [ fhir:code [ fhir:v "98971" ] ; fhir:display [ fhir:v "Posterior amorphous corneal dystrophy" ] ] [ fhir:code [ fhir:v "98972" ] ; fhir:display [ fhir:v "Central cloudy dystrophy of François" ] ] [ fhir:code [ fhir:v "98973" ] ; fhir:display [ fhir:v "Posterior polymorphous corneal dystrophy" ] ] [ fhir:code [ fhir:v "98974" ] ; fhir:display [ fhir:v "Fuchs endothelial corneal dystrophy" ] ] [ fhir:code [ fhir:v "98975" ] ; fhir:display [ fhir:v "Congenital hereditary endothelial dystrophy type I" ] ] [ fhir:code [ fhir:v "98976" ] ; fhir:display [ fhir:v "Congenital glaucoma" ] ] [ fhir:code [ fhir:v "98977" ] ; fhir:display [ fhir:v "Juvenile glaucoma" ] ] [ fhir:code [ fhir:v "98978" ] ; fhir:display [ fhir:v "Axenfeld anomaly" ] ] [ fhir:code [ fhir:v "98979" ] ; fhir:display [ fhir:v "Chandler syndrome" ] ] [ fhir:code [ fhir:v "98980" ] ; fhir:display [ fhir:v "Cogan-Reese syndrome" ] ] [ fhir:code [ fhir:v "98981" ] ; fhir:display [ fhir:v "Essential iris atrophy" ] ] [ fhir:code [ fhir:v "98984" ] ; fhir:display [ fhir:v "Pulverulent cataract" ] ] [ fhir:code [ fhir:v "98985" ] ; fhir:display [ fhir:v "Early-onset sutural cataract" ] ] [ fhir:code [ fhir:v "98988" ] ; fhir:display [ fhir:v "Early-onset anterior polar cataract" ] ] [ fhir:code [ fhir:v "98989" ] ; fhir:display [ fhir:v "Cerulean cataract" ] ] [ fhir:code [ fhir:v "98990" ] ; fhir:display [ fhir:v "Coralliform cataract" ] ] [ fhir:code [ fhir:v "98991" ] ; fhir:display [ fhir:v "Early-onset nuclear cataract" ] ] [ fhir:code [ fhir:v "98992" ] ; fhir:display [ fhir:v "Early-onset partial cataract" ] ] [ fhir:code [ fhir:v "98993" ] ; fhir:display [ fhir:v "Early-onset posterior polar cataract" ] ] [ fhir:code [ fhir:v "98994" ] ; fhir:display [ fhir:v "Total early-onset cataract" ] ] [ fhir:code [ fhir:v "98995" ] ; fhir:display [ fhir:v "Early-onset zonular cataract" ] ] [ fhir:code [ fhir:v "990" ] ; fhir:display [ fhir:v "Agnathia-holoprosencephaly-situs inversus syndrome" ] ] [ fhir:code [ fhir:v "99000" ] ; fhir:display [ fhir:v "Adult-onset foveomacular vitelliform dystrophy" ] ] [ fhir:code [ fhir:v "99001" ] ; fhir:display [ fhir:v "Butterfly-shaped pigment dystrophy" ] ] [ fhir:code [ fhir:v "99002" ] ; fhir:display [ fhir:v "Reticular dystrophy of the retinal pigment epithelium" ] ] [ fhir:code [ fhir:v "99003" ] ; fhir:display [ fhir:v "Multifocal pattern dystrophy simulating fundus flavimaculatus" ] ] [ fhir:code [ fhir:v "99004" ] ; fhir:display [ fhir:v "Fundus pulverulentus" ] ] [ fhir:code [ fhir:v "99013" ] ; fhir:display [ fhir:v "Spastic paraplegia type 7" ] ] [ fhir:code [ fhir:v "99014" ] ; fhir:display [ fhir:v "X-linked Charcot-Marie-Tooth disease type 5" ] ] [ fhir:code [ fhir:v "99015" ] ; fhir:display [ fhir:v "Spastic paraplegia type 2" ] ] [ fhir:code [ fhir:v "99027" ] ; fhir:display [ fhir:v "Adult-onset autosomal dominant leukodystrophy" ] ] [ fhir:code [ fhir:v "99042" ] ; fhir:display [ fhir:v "Congenitally uncorrected transposition of the great arteries with coarctation" ] ] [ fhir:code [ fhir:v "99043" ] ; fhir:display [ fhir:v "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis" ] ] [ fhir:code [ fhir:v "99045" ] ; fhir:display [ fhir:v "Double outlet right ventricle with subpulmonary ventricular septal defect" ] ] [ fhir:code [ fhir:v "99046" ] ; fhir:display [ fhir:v "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect" ] ] [ fhir:code [ fhir:v "99048" ] ; fhir:display [ fhir:v "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" ] ] [ fhir:code [ fhir:v "99049" ] ; fhir:display [ fhir:v "Pulmonary artery coming from patent ductus arteriosus" ] ] [ fhir:code [ fhir:v "99050" ] ; fhir:display [ fhir:v "Abnormal origin of right or left pulmonary artery from the aorta" ] ] [ fhir:code [ fhir:v "99051" ] ; fhir:display [ fhir:v "Discrete fixed membranous subaortic stenosis" ] ] [ fhir:code [ fhir:v "99052" ] ; fhir:display [ fhir:v "Discrete fibromuscular subaortic stenosis" ] ] [ fhir:code [ fhir:v "99053" ] ; fhir:display [ fhir:v "Tunnel subaortic stenosis" ] ] [ fhir:code [ fhir:v "99054" ] ; fhir:display [ fhir:v "Valvular pulmonary stenosis" ] ] [ fhir:code [ fhir:v "99055" ] ; fhir:display [ fhir:v "Congenital anomaly of the tricuspid valve chordae" ] ] [ fhir:code [ fhir:v "99056" ] ; fhir:display [ fhir:v "Parachute tricuspid valve" ] ] [ fhir:code [ fhir:v "99057" ] ; fhir:display [ fhir:v "Congenital mitral stenosis" ] ] [ fhir:code [ fhir:v "99058" ] ; fhir:display [ fhir:v "Hypoplasia of the mitral valve annulus" ] ] [ fhir:code [ fhir:v "99059" ] ; fhir:display [ fhir:v "Congenital supravalvular mitral ring" ] ] [ fhir:code [ fhir:v "99060" ] ; fhir:display [ fhir:v "Congenital unguarded mitral orifice" ] ] [ fhir:code [ fhir:v "99061" ] ; fhir:display [ fhir:v "Accessory mitral valve tissue" ] ] [ fhir:code [ fhir:v "99062" ] ; fhir:display [ fhir:v "Mitral valve agenesis" ] ] [ fhir:code [ fhir:v "99063" ] ; fhir:display [ fhir:v "Shone complex" ] ] [ fhir:code [ fhir:v "99064" ] ; fhir:display [ fhir:v "Straddling and/or overriding mitral valve" ] ] [ fhir:code [ fhir:v "99067" ] ; fhir:display [ fhir:v "Complete atrioventricular septal defect with ventricular hypoplasia" ] ] [ fhir:code [ fhir:v "99068" ] ; fhir:display [ fhir:v "Complete atrioventricular septal defect-tetralogy of Fallot" ] ] [ fhir:code [ fhir:v "99070" ] ; fhir:display [ fhir:v "Aorto-right ventricular tunnel" ] ] [ fhir:code [ fhir:v "99071" ] ; fhir:display [ fhir:v "Aorto-left ventricular tunnel" ] ] [ fhir:code [ fhir:v "99072" ] ; fhir:display [ fhir:v "Congenital patent ductus arteriosus aneurysm" ] ] [ fhir:code [ fhir:v "99075" ] ; fhir:display [ fhir:v "Encircling double aortic arch" ] ] [ fhir:code [ fhir:v "99076" ] ; fhir:display [ fhir:v "Persistent fifth aortic arch" ] ] [ fhir:code [ fhir:v "99077" ] ; fhir:display [ fhir:v "Kommerell diverticulum" ] ] [ fhir:code [ fhir:v "99078" ] ; fhir:display [ fhir:v "Neuhauser anomaly" ] ] [ fhir:code [ fhir:v "99079" ] ; fhir:display [ fhir:v "Cervical aortic arch" ] ] [ fhir:code [ fhir:v "99081" ] ; fhir:display [ fhir:v "Right aortic arch" ] ] [ fhir:code [ fhir:v "99082" ] ; fhir:display [ fhir:v "Dysphagia lusoria" ] ] [ fhir:code [ fhir:v "99083" ] ; fhir:display [ fhir:v "Pulmonary artery hypoplasia" ] ] [ fhir:code [ fhir:v "99084" ] ; fhir:display [ fhir:v "Peripheral pulmonary stenosis" ] ] [ fhir:code [ fhir:v "99087" ] ; fhir:display [ fhir:v "Coronary ostial stenosis or atresia" ] ] [ fhir:code [ fhir:v "99089" ] ; fhir:display [ fhir:v "Abnormal number of coronary ostia" ] ] [ fhir:code [ fhir:v "99090" ] ; fhir:display [ fhir:v "Malposition of a coronary ostium" ] ] [ fhir:code [ fhir:v "99092" ] ; fhir:display [ fhir:v "Interventricular septum aneurysm" ] ] [ fhir:code [ fhir:v "99094" ] ; fhir:display [ fhir:v "Laubry-Pezzi syndrome" ] ] [ fhir:code [ fhir:v "99095" ] ; fhir:display [ fhir:v "Congenital Gerbode defect" ] ] [ fhir:code [ fhir:v "99098" ] ; fhir:display [ fhir:v "Cor triatriatum dexter" ] ] [ fhir:code [ fhir:v "99099" ] ; fhir:display [ fhir:v "Cor triatriatum sinister" ] ] [ fhir:code [ fhir:v "991" ] ; fhir:display [ fhir:v "PAGOD syndrome" ] ] [ fhir:code [ fhir:v "99100" ] ; fhir:display [ fhir:v "Juxtaposition of the atrial appendages" ] ] [ fhir:code [ fhir:v "99101" ] ; fhir:display [ fhir:v "Ectasia of the right atrial appendage" ] ] [ fhir:code [ fhir:v "99102" ] ; fhir:display [ fhir:v "Ectasia of the left atrial appendage" ] ] [ fhir:code [ fhir:v "99103" ] ; fhir:display [ fhir:v "Atrial septal defect, ostium secundum type" ] ] [ fhir:code [ fhir:v "99104" ] ; fhir:display [ fhir:v "Atrial septal defect, coronary sinus type" ] ] [ fhir:code [ fhir:v "99105" ] ; fhir:display [ fhir:v "Atrial septal defect, sinus venosus type" ] ] [ fhir:code [ fhir:v "99106" ] ; fhir:display [ fhir:v "Atrial septal defect, ostium primum type" ] ] [ fhir:code [ fhir:v "99107" ] ; fhir:display [ fhir:v "Atrial septal aneurysm" ] ] [ fhir:code [ fhir:v "99109" ] ; fhir:display [ fhir:v "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium" ] ] [ fhir:code [ fhir:v "99110" ] ; fhir:display [ fhir:v "Right superior vena cava connecting to left-sided atrium" ] ] [ fhir:code [ fhir:v "99111" ] ; fhir:display [ fhir:v "Persistent left superior vena cava connecting to the roof of left-sided atrium" ] ] [ fhir:code [ fhir:v "99112" ] ; fhir:display [ fhir:v "Absence of innominate vein" ] ] [ fhir:code [ fhir:v "99113" ] ; fhir:display [ fhir:v "Subaortic course of innominate vein" ] ] [ fhir:code [ fhir:v "99114" ] ; fhir:display [ fhir:v "Agenesis of the superior vena cava" ] ] [ fhir:code [ fhir:v "99117" ] ; fhir:display [ fhir:v "Coronary sinus stenosis" ] ] [ fhir:code [ fhir:v "99118" ] ; fhir:display [ fhir:v "Coronary sinus atresia" ] ] [ fhir:code [ fhir:v "99119" ] ; fhir:display [ fhir:v "Right inferior vena cava connecting to left-sided atrium" ] ] [ fhir:code [ fhir:v "99120" ] ; fhir:display [ fhir:v "Persistent eustachian valve" ] ] [ fhir:code [ fhir:v "99121" ] ; fhir:display [ fhir:v "Azygos continuation of the inferior vena cava" ] ] [ fhir:code [ fhir:v "99122" ] ; fhir:display [ fhir:v "Congenital stenosis of the inferior vena cava" ] ] [ fhir:code [ fhir:v "99123" ] ; fhir:display [ fhir:v "Inferior vena cava interruption without azygos continuation" ] ] [ fhir:code [ fhir:v "99124" ] ; fhir:display [ fhir:v "Congenital partial pulmonary venous return anomaly" ] ] [ fhir:code [ fhir:v "99125" ] ; fhir:display [ fhir:v "Congenital total pulmonary venous return anomaly" ] ] [ fhir:code [ fhir:v "99126" ] ; fhir:display [ fhir:v "Congenital pulmonary vein atresia" ] ] [ fhir:code [ fhir:v "99129" ] ; fhir:display [ fhir:v "Congenital complete agenesis of pericardium" ] ] [ fhir:code [ fhir:v "99130" ] ; fhir:display [ fhir:v "Congenital partial agenesis of pericardium" ] ] [ fhir:code [ fhir:v "99131" ] ; fhir:display [ fhir:v "Pleuro-pericardial cyst" ] ] [ fhir:code [ fhir:v "99135" ] ; fhir:display [ fhir:v "6-phosphogluconate dehydrogenase deficiency" ] ] [ fhir:code [ fhir:v "99138" ] ; fhir:display [ fhir:v "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction" ] ] [ fhir:code [ fhir:v "99139" ] ; fhir:display [ fhir:v "Unstable hemoglobin disease" ] ] [ fhir:code [ fhir:v "99141" ] ; fhir:display [ fhir:v "Lymphedema-posterior choanal atresia syndrome" ] ] [ fhir:code [ fhir:v "99147" ] ; fhir:display [ fhir:v "Acquired von Willebrand syndrome" ] ] [ fhir:code [ fhir:v "99169" ] ; fhir:display [ fhir:v "Epiblepharon" ] ] [ fhir:code [ fhir:v "99170" ] ; fhir:display [ fhir:v "Tarsal kink syndrome" ] ] [ fhir:code [ fhir:v "99171" ] ; fhir:display [ fhir:v "Isolated congenital ectropion" ] ] [ fhir:code [ fhir:v "99172" ] ; fhir:display [ fhir:v "Euryblepharon" ] ] [ fhir:code [ fhir:v "99176" ] ; fhir:display [ fhir:v "Congenital eyelid retraction" ] ] [ fhir:code [ fhir:v "99177" ] ; fhir:display [ fhir:v "Isolated distichiasis" ] ] [ fhir:code [ fhir:v "99179" ] ; fhir:display [ fhir:v "Kandori fleck retina" ] ] [ fhir:code [ fhir:v "99226" ] ; fhir:display [ fhir:v "Monosomy X" ] ] [ fhir:code [ fhir:v "99228" ] ; fhir:display [ fhir:v "Mosaic monosomy X" ] ] [ fhir:code [ fhir:v "99324" ] ; fhir:display [ fhir:v "Paternal uniparental disomy of chromosome 13" ] ] [ fhir:code [ fhir:v "99329" ] ; fhir:display [ fhir:v "48,XYYY syndrome" ] ] [ fhir:code [ fhir:v "99330" ] ; fhir:display [ fhir:v "49,XYYYY syndrome" ] ] [ fhir:code [ fhir:v "99361" ] ; fhir:display [ fhir:v "Familial medullary thyroid carcinoma" ] ] [ fhir:code [ fhir:v "994" ] ; fhir:display [ fhir:v "Fetal akinesia deformation sequence" ] ] [ fhir:code [ fhir:v "99413" ] ; fhir:display [ fhir:v "Turner syndrome due to structural X chromosome anomalies" ] ] [ fhir:code [ fhir:v "99429" ] ; fhir:display [ fhir:v "Complete androgen insensitivity syndrome" ] ] [ fhir:code [ fhir:v "99642" ] ; fhir:display [ fhir:v "Spondyloepimetaphyseal dysplasia, Handigodu type" ] ] [ fhir:code [ fhir:v "99646" ] ; fhir:display [ fhir:v "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" ] ] [ fhir:code [ fhir:v "99647" ] ; fhir:display [ fhir:v "Cheirospondyloenchondromatosis" ] ] [ fhir:code [ fhir:v "99657" ] ; fhir:display [ fhir:v "Primary dystonia, DYT2 type" ] ] [ fhir:code [ fhir:v "99672" ] ; fhir:display [ fhir:v "Fried's tooth and nail syndrome" ] ] [ fhir:code [ fhir:v "99688" ] ; fhir:display [ fhir:v "Dermotrichic syndrome" ] ] [ fhir:code [ fhir:v "99701" ] ; fhir:display [ fhir:v "Mesial temporal lobe epilepsy with hippocampal sclerosis" ] ] [ fhir:code [ fhir:v "99704" ] ; fhir:display [ fhir:v "Early-onset obesity-hyperphagia-severe developmental delay syndrome" ] ] [ fhir:code [ fhir:v "99710" ] ; fhir:display [ fhir:v "Punctate acrokeratoderma freckle-like pigmentation" ] ] [ fhir:code [ fhir:v "99718" ] ; fhir:display [ fhir:v "Leber plus disease" ] ] [ fhir:code [ fhir:v "99725" ] ; fhir:display [ fhir:v "Pituitary gigantism" ] ] [ fhir:code [ fhir:v "99731" ] ; fhir:display [ fhir:v "Isolated sulfite oxidase deficiency" ] ] [ fhir:code [ fhir:v "99732" ] ; fhir:display [ fhir:v "Sulfite oxidase deficiency due to molybdenum cofactor deficiency" ] ] [ fhir:code [ fhir:v "99734" ] ; fhir:display [ fhir:v "Myotonia fluctuans" ] ] [ fhir:code [ fhir:v "99735" ] ; fhir:display [ fhir:v "Myotonia permanens" ] ] [ fhir:code [ fhir:v "99736" ] ; fhir:display [ fhir:v "Acetazolamide-responsive myotonia" ] ] [ fhir:code [ fhir:v "99741" ] ; fhir:display [ fhir:v "King-Denborough syndrome" ] ] [ fhir:code [ fhir:v "99742" ] ; fhir:display [ fhir:v "Amish lethal microcephaly" ] ] [ fhir:code [ fhir:v "99745" ] ; fhir:display [ fhir:v "Typhoid" ] ] [ fhir:code [ fhir:v "99748" ] ; fhir:display [ fhir:v "Pontiac fever" ] ] [ fhir:code [ fhir:v "99749" ] ; fhir:display [ fhir:v "Kostmann syndrome" ] ] [ fhir:code [ fhir:v "99750" ] ; fhir:display [ fhir:v "Atypical progressive supranuclear palsy syndrome" ] ] [ fhir:code [ fhir:v "99756" ] ; fhir:display [ fhir:v "Alveolar rhabdomyosarcoma" ] ] [ fhir:code [ fhir:v "99757" ] ; fhir:display [ fhir:v "Embryonal rhabdomyosarcoma" ] ] [ fhir:code [ fhir:v "99771" ] ; fhir:display [ fhir:v "Bifid uvula" ] ] [ fhir:code [ fhir:v "99772" ] ; fhir:display [ fhir:v "Cleft velum" ] ] [ fhir:code [ fhir:v "99776" ] ; fhir:display [ fhir:v "Mosaic trisomy 9" ] ] [ fhir:code [ fhir:v "99789" ] ; fhir:display [ fhir:v "Dentin dysplasia type I" ] ] [ fhir:code [ fhir:v "99791" ] ; fhir:display [ fhir:v "Dentin dysplasia type II" ] ] [ fhir:code [ fhir:v "99792" ] ; fhir:display [ fhir:v "Dentin dysplasia-sclerotic bones syndrome" ] ] [ fhir:code [ fhir:v "99796" ] ; fhir:display [ fhir:v "Subcortical band heterotopia" ] ] [ fhir:code [ fhir:v "99797" ] ; fhir:display [ fhir:v "Anodontia" ] ] [ fhir:code [ fhir:v "99798" ] ; fhir:display [ fhir:v "Oligodontia" ] ] [ fhir:code [ fhir:v "998" ] ; fhir:display [ fhir:v "Albinism-deafness syndrome" ] ] [ fhir:code [ fhir:v "99802" ] ; fhir:display [ fhir:v "Hemimegalencephaly" ] ] [ fhir:code [ fhir:v "99803" ] ; fhir:display [ fhir:v "Haddad syndrome" ] ] [ fhir:code [ fhir:v "99806" ] ; fhir:display [ fhir:v "Oculootodental syndrome" ] ] [ fhir:code [ fhir:v "99807" ] ; fhir:display [ fhir:v "PEHO-like syndrome" ] ] [ fhir:code [ fhir:v "99810" ] ; fhir:display [ fhir:v "Familial porencephaly" ] ] [ fhir:code [ fhir:v "99811" ] ; fhir:display [ fhir:v "Neuronal intestinal pseudoobstruction" ] ] [ fhir:code [ fhir:v "99812" ] ; fhir:display [ fhir:v "LIG4 syndrome" ] ] [ fhir:code [ fhir:v "99818" ] ; fhir:display [ fhir:v "Turcot syndrome with polyposis" ] ] [ fhir:code [ fhir:v "99819" ] ; fhir:display [ fhir:v "Familial gestational hyperthyroidism" ] ] [ fhir:code [ fhir:v "99824" ] ; fhir:display [ fhir:v "Lassa fever" ] ] [ fhir:code [ fhir:v "99825" ] ; fhir:display [ fhir:v "Nipah virus disease" ] ] [ fhir:code [ fhir:v "99826" ] ; fhir:display [ fhir:v "Marburg hemorrhagic fever" ] ] [ fhir:code [ fhir:v "99827" ] ; fhir:display [ fhir:v "Crimean-Congo hemorrhagic fever" ] ] [ fhir:code [ fhir:v "99828" ] ; fhir:display [ fhir:v "Dengue fever" ] ] [ fhir:code [ fhir:v "99829" ] ; fhir:display [ fhir:v "Yellow fever" ] ] [ fhir:code [ fhir:v "99832" ] ; fhir:display [ fhir:v "Resistance to thyrotropin-releasing hormone syndrome" ] ] [ fhir:code [ fhir:v "99842" ] ; fhir:display [ fhir:v "Leukocyte adhesion deficiency type I" ] ] [ fhir:code [ fhir:v "99843" ] ; fhir:display [ fhir:v "Leukocyte adhesion deficiency type II" ] ] [ fhir:code [ fhir:v "99844" ] ; fhir:display [ fhir:v "Leukocyte adhesion deficiency type III" ] ] [ fhir:code [ fhir:v "99845" ] ; fhir:display [ fhir:v "Genetic recurrent myoglobinuria" ] ] [ fhir:code [ fhir:v "99846" ] ; fhir:display [ fhir:v "Autosomal dominant myoglobinuria" ] ] [ fhir:code [ fhir:v "99849" ] ; fhir:display [ fhir:v "Glycogen storage disease due to muscle beta-enolase deficiency" ] ] [ fhir:code [ fhir:v "99852" ] ; fhir:display [ fhir:v "Ravine syndrome" ] ] [ fhir:code [ fhir:v "99853" ] ; fhir:display [ fhir:v "Ovarioleukodystrophy" ] ] [ fhir:code [ fhir:v "99854" ] ; fhir:display [ fhir:v "Cree leukoencephalopathy" ] ] [ fhir:code [ fhir:v "99856" ] ; fhir:display [ fhir:v "Primary syringomyelia" ] ] [ fhir:code [ fhir:v "99857" ] ; fhir:display [ fhir:v "Secondary syringomyelia" ] ] [ fhir:code [ fhir:v "99858" ] ; fhir:display [ fhir:v "Idiopathic syringomyelia" ] ] [ fhir:code [ fhir:v "99860" ] ; fhir:display [ fhir:v "Precursor B-cell acute lymphoblastic leukemia" ] ] [ fhir:code [ fhir:v "99861" ] ; fhir:display [ fhir:v "Precursor T-cell acute lymphoblastic leukemia" ] ] [ fhir:code [ fhir:v "99865" ] ; fhir:display [ fhir:v "Spermatocytic seminoma" ] ] [ fhir:code [ fhir:v "99867" ] ; fhir:display [ fhir:v "Thymoma" ] ] [ fhir:code [ fhir:v "99868" ] ; fhir:display [ fhir:v "Thymic carcinoma" ] ] [ fhir:code [ fhir:v "99869" ] ; fhir:display [ fhir:v "Thymic neuroendocrine carcinoma" ] ] [ fhir:code [ fhir:v "99879" ] ; fhir:display [ fhir:v "Familial isolated hyperparathyroidism" ] ] [ fhir:code [ fhir:v "99880" ] ; fhir:display [ fhir:v "Hyperparathyroidism-jaw tumor syndrome" ] ] [ fhir:code [ fhir:v "99885" ] ; fhir:display [ fhir:v "Isolated permanent neonatal diabetes mellitus" ] ] [ fhir:code [ fhir:v "99886" ] ; fhir:display [ fhir:v "Transient neonatal diabetes mellitus" ] ] [ fhir:code [ fhir:v "99887" ] ; fhir:display [ fhir:v "Acute megakaryoblastic leukemia in Down syndrome" ] ] [ fhir:code [ fhir:v "99889" ] ; fhir:display [ fhir:v "Cushing syndrome due to ectopic ACTH secretion" ] ] [ fhir:code [ fhir:v "99898" ] ; fhir:display [ fhir:v "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency" ] ] [ fhir:code [ fhir:v "999" ] ; fhir:display [ fhir:v "Ermine phenotype" ] ] [ fhir:code [ fhir:v "99901" ] ; fhir:display [ fhir:v "Acyl-CoA dehydrogenase 9 deficiency" ] ] [ fhir:code [ fhir:v "99903" ] ; fhir:display [ fhir:v "Spirillary rat-bite fever" ] ] [ fhir:code [ fhir:v "99905" ] ; fhir:display [ fhir:v "Streptobacillary rat-bite fever" ] ] [ fhir:code [ fhir:v "99906" ] ; fhir:display [ fhir:v "Farmer's lung disease" ] ] [ fhir:code [ fhir:v "99907" ] ; fhir:display [ fhir:v "House allergic alveolitis" ] ] [ fhir:code [ fhir:v "99908" ] ; fhir:display [ fhir:v "Pigeon-breeder lung disease" ] ] [ fhir:code [ fhir:v "99912" ] ; fhir:display [ fhir:v "Malignant dysgerminomatous germ cell tumor of the ovary" ] ] [ fhir:code [ fhir:v "99914" ] ; fhir:display [ fhir:v "Gynandroblastoma" ] ] [ fhir:code [ fhir:v "99915" ] ; fhir:display [ fhir:v "Maligant granulosa cell tumor of the ovary" ] ] [ fhir:code [ fhir:v "99916" ] ; fhir:display [ fhir:v "Malignant Sertoli-Leydig cell tumor of the ovary" ] ] [ fhir:code [ fhir:v "99917" ] ; fhir:display [ fhir:v "Theca steroid-producing cell malignant tumor of ovary, not further specified" ] ] [ fhir:code [ fhir:v "99918" ] ; fhir:display [ fhir:v "Streptococcal toxic-shock syndrome" ] ] [ fhir:code [ fhir:v "99919" ] ; fhir:display [ fhir:v "Staphylococcal toxic-shock syndrome" ] ] [ fhir:code [ fhir:v "99920" ] ; fhir:display [ fhir:v "Acute graft versus host disease" ] ] [ fhir:code [ fhir:v "99921" ] ; fhir:display [ fhir:v "Chronic graft versus host disease" ] ] [ fhir:code [ fhir:v "99922" ] ; fhir:display [ fhir:v "Ocular cicatricial pemphigoid" ] ] [ fhir:code [ fhir:v "99925" ] ; fhir:display [ fhir:v "Invasive mole" ] ] [ fhir:code [ fhir:v "99926" ] ; fhir:display [ fhir:v "Gestational choriocarcinoma" ] ] [ fhir:code [ fhir:v "99927" ] ; fhir:display [ fhir:v "Hydatidiform mole" ] ] [ fhir:code [ fhir:v "99928" ] ; fhir:display [ fhir:v "Placental site trophoblastic tumor" ] ] [ fhir:code [ fhir:v "99930" ] ; fhir:display [ fhir:v "Secondary pulmonary hemosiderosis" ] ] [ fhir:code [ fhir:v "99931" ] ; fhir:display [ fhir:v "Idiopathic pulmonary hemosiderosis" ] ] [ fhir:code [ fhir:v "99932" ] ; fhir:display [ fhir:v "Heiner syndrome" ] ] [ fhir:code [ fhir:v "99933" ] ; fhir:display [ fhir:v "Pleuropulmonary blastoma type 1" ] ] [ fhir:code [ fhir:v "99934" ] ; fhir:display [ fhir:v "Pleuropulmonary blastoma type 2" ] ] [ fhir:code [ fhir:v "99935" ] ; fhir:display [ fhir:v "Pleuropulmonary blastoma type 3" ] ] [ fhir:code [ fhir:v "99936" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2B" ] ] [ fhir:code [ fhir:v "99937" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2C" ] ] [ fhir:code [ fhir:v "99938" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2D" ] ] [ fhir:code [ fhir:v "99939" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2E" ] ] [ fhir:code [ fhir:v "99940" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2F" ] ] [ fhir:code [ fhir:v "99941" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2G" ] ] [ fhir:code [ fhir:v "99942" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2I" ] ] [ fhir:code [ fhir:v "99943" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2J" ] ] [ fhir:code [ fhir:v "99944" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2K" ] ] [ fhir:code [ fhir:v "99945" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2L" ] ] [ fhir:code [ fhir:v "99946" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2A1" ] ] [ fhir:code [ fhir:v "99947" ] ; fhir:display [ fhir:v "Autosomal dominant Charcot-Marie-Tooth disease type 2A2" ] ] [ fhir:code [ fhir:v "99948" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4A" ] ] [ fhir:code [ fhir:v "99949" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4C" ] ] [ fhir:code [ fhir:v "99950" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4D" ] ] [ fhir:code [ fhir:v "99951" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4E" ] ] [ fhir:code [ fhir:v "99952" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4F" ] ] [ fhir:code [ fhir:v "99953" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4G" ] ] [ fhir:code [ fhir:v "99954" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4H" ] ] [ fhir:code [ fhir:v "99955" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4B1" ] ] [ fhir:code [ fhir:v "99956" ] ; fhir:display [ fhir:v "Charcot-Marie-Tooth disease type 4B2" ] ] [ fhir:code [ fhir:v "99960" ] ; fhir:display [ fhir:v "Benign recurrent intrahepatic cholestasis type 1" ] ] [ fhir:code [ fhir:v "99961" ] ; fhir:display [ fhir:v "Benign recurrent intrahepatic cholestasis type 2" ] ] [ fhir:code [ fhir:v "99965" ] ; fhir:display [ fhir:v "O'Sullivan-McLeod syndrome" ] ] [ fhir:code [ fhir:v "99966" ] ; fhir:display [ fhir:v "Atypical teratoid rhabdoid tumor" ] ] [ fhir:code [ fhir:v "99967" ] ; fhir:display [ fhir:v "Myxoid/round cell liposarcoma" ] ] [ fhir:code [ fhir:v "99969" ] ; fhir:display [ fhir:v "Pleomorphic liposarcoma" ] ] [ fhir:code [ fhir:v "99970" ] ; fhir:display [ fhir:v "Dedifferentiated liposarcoma" ] ] [ fhir:code [ fhir:v "99971" ] ; fhir:display [ fhir:v "Well-differentiated liposarcoma" ] ] [ fhir:code [ fhir:v "99976" ] ; fhir:display [ fhir:v "Adenocarcinoma of the esophagus" ] ] [ fhir:code [ fhir:v "99977" ] ; fhir:display [ fhir:v "Squamous cell carcinoma of the esophagus" ] ] [ fhir:code [ fhir:v "99978" ] ; fhir:display [ fhir:v "Klatskin tumor" ] ] [ fhir:code [ fhir:v "99981" ] ; fhir:display [ fhir:v "Apnea of prematurity" ] ] [ fhir:code [ fhir:v "99989" ] ; fhir:display [ fhir:v "Intermediate DEND syndrome" ] ] [ fhir:code [ fhir:v "99990" ] ; fhir:display [ fhir:v "Brill-Zinsser disease" ] ] [ fhir:code [ fhir:v "99991" ] ; fhir:display [ fhir:v "Relapsing epidemic typhus" ] ] [ fhir:code [ fhir:v "99994" ] ; fhir:display [ fhir:v "Complex regional pain syndrome type 2" ] ] [ fhir:code [ fhir:v "99995" ] ; fhir:display [ fhir:v "Complex regional pain syndrome type 1" ] ] ) ] ) ] . #
IG © 2024+ MyHealth@Eu. Package myhealth.eu.fhir.hdr#0.0.1 based on FHIR 4.0.1. Generated 2024-11-21
