MyHealth@Eu MVC package
9.1.0 - trial-use
MyHealth@Eu MVC package
9.1.0 - trial-use
MyHealth@Eu MVC package - Downloaded Version 9.1.0 See the Directory of published versions
| Active as of 2026-05-08 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="eHDSIRareDisease"/>
<url value="http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease"/>
<identifier>
<system value="urn:ietf:rfc:3986"/>
<value value="urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63"/>
</identifier>
<version value="9.1.0"/>
<name value="EHDSIRareDisease"/>
<title value="eHDSI Rare Disease"/>
<status value="active"/>
<experimental value="false"/>
<date value="2026-05-08T11:21:08+02:00"/>
<publisher value="MyHealth@Eu"/>
<contact>
<name value="MyHealth@Eu"/>
<telecom>
<system value="url"/>
<value
value="https://health.ec.europa.eu/other-pages/basic-page/myhealtheu-flyer-addressed-patients-and-health-professionals_en"/>
</telecom>
</contact>
<description
value="The Value Set is used to describe the problems and medication reasons."/>
<copyright
value="This Value Set includes a subset of the Orphanet Nomenclature Pack for codification which is released each year in July (https://www.orphadata.com/pack-nomenclature/). Countries that wish to translate the subset provided in this file should first check if an existing translation is available on Orphadata (either as part of the nomenclature pack or as one of the languages of the nomenclature alignment files) so as to not duplicate efforts. Translations into languages not already distributed by Orphanet should be validated by a medical doctor/committee to ensure their accuracy and the Orphanet Coordinating team should be notified (partnerships.orphanet@inserm.fr). Any modifications/updates a user wishes to make to an existing translation distributed by Orphanet should contact the Orphanet Coordinating Team (partnerships.orphanet@inserm.fr)"/>
<compose>
<include>
<system value="https://www.orpha.net"/>
<concept>
<code value="10"/>
<display value="48,XXYY syndrome"/>
</concept>
<concept>
<code value="100"/>
<display value="Ataxia-telangiectasia"/>
</concept>
<concept>
<code value="1000"/>
<display
value="Ocular albinism with late-onset sensorineural deafness"/>
</concept>
<concept>
<code value="100000"/>
<display value="Reticular perineurioma"/>
</concept>
<concept>
<code value="100001"/>
<display value="Sclerosing perineurioma"/>
</concept>
<concept>
<code value="100002"/>
<display value="Extraneural perineurioma"/>
</concept>
<concept>
<code value="100003"/>
<display value="Intraneural perineurioma"/>
</concept>
<concept>
<code value="100006"/>
<display value="ABeta amyloidosis, Dutch type"/>
</concept>
<concept>
<code value="100008"/>
<display value="ACys amyloidosis"/>
</concept>
<concept>
<code value="100011"/>
<display value="Lissencephaly with cerebellar hypoplasia type A"/>
</concept>
<concept>
<code value="100012"/>
<display value="Lissencephaly with cerebellar hypoplasia type B"/>
</concept>
<concept>
<code value="100013"/>
<display value="Lissencephaly with cerebellar hypoplasia type C"/>
</concept>
<concept>
<code value="100014"/>
<display value="Lissencephaly with cerebellar hypoplasia type D"/>
</concept>
<concept>
<code value="100015"/>
<display value="Lissencephaly with cerebellar hypoplasia type E"/>
</concept>
<concept>
<code value="100016"/>
<display value="Lissencephaly with cerebellar hypoplasia type F"/>
</concept>
<concept>
<code value="100019"/>
<display
value="Myelodysplastic neoplasm with increased blasts type 1"/>
</concept>
<concept>
<code value="100020"/>
<display
value="Myelodysplastic neoplasm with increased blasts type 2"/>
</concept>
<concept>
<code value="100021"/>
<display value="Primary plasmacytoma of the bone"/>
</concept>
<concept>
<code value="100022"/>
<display value="Extramedullary soft tissue plasmacytoma"/>
</concept>
<concept>
<code value="100024"/>
<display value="Mu-heavy chain disease"/>
</concept>
<concept>
<code value="100025"/>
<display value="Alpha-heavy chain disease"/>
</concept>
<concept>
<code value="100026"/>
<display value="Gamma-heavy chain disease"/>
</concept>
<concept>
<code value="100031"/>
<display value="Hypoplastic amelogenesis imperfecta"/>
</concept>
<concept>
<code value="100032"/>
<display value="Hypocalcified amelogenesis imperfecta"/>
</concept>
<concept>
<code value="100033"/>
<display value="Hypomaturation amelogenesis imperfecta"/>
</concept>
<concept>
<code value="100034"/>
<display
value="Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"/>
</concept>
<concept>
<code value="100035"/>
<display value="Solitary necrotic nodule of the liver"/>
</concept>
<concept>
<code value="100043"/>
<display
value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type A"/>
</concept>
<concept>
<code value="100044"/>
<display
value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"/>
</concept>
<concept>
<code value="100045"/>
<display
value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"/>
</concept>
<concept>
<code value="100046"/>
<display
value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"/>
</concept>
<concept>
<code value="100047"/>
<display value="Isolated esophageal duplication cyst"/>
</concept>
<concept>
<code value="100048"/>
<display value="Isolated tubular duplication of the esophagus"/>
</concept>
<concept>
<code value="100050"/>
<display value="Hereditary angioedema type 1"/>
</concept>
<concept>
<code value="100051"/>
<display value="Hereditary angioedema type 2"/>
</concept>
<concept>
<code value="100054"/>
<display value="F12-related hereditary angioedema with normal C1Inh"/>
</concept>
<concept>
<code value="100055"/>
<display value="Acquired angioedema type 2"/>
</concept>
<concept>
<code value="100056"/>
<display value="Acquired angioedema type 1"/>
</concept>
<concept>
<code value="100057"/>
<display
value="Renin-angiotensin-aldosterone system-blocker-induced angioedema"/>
</concept>
<concept>
<code value="100067"/>
<display value="Waterhouse-Friderichsen syndrome"/>
</concept>
<concept>
<code value="100069"/>
<display value="Semantic dementia"/>
</concept>
<concept>
<code value="100070"/>
<display value="Progressive non-fluent aphasia"/>
</concept>
<concept>
<code value="100071"/>
<display value="Mosaic trisomy 3 syndrome"/>
</concept>
<concept>
<code value="100073"/>
<display value="Neurogenic thoracic outlet syndrome"/>
</concept>
<concept>
<code value="100075"/>
<display value="Neuroendocrine tumor of stomach"/>
</concept>
<concept>
<code value="100078"/>
<display value="Ileal neuroendocrine tumor"/>
</concept>
<concept>
<code value="100079"/>
<display value="Neuroendocrine neoplasm of appendix"/>
</concept>
<concept>
<code value="100080"/>
<display value="Neuroendocrine tumor of the colon"/>
</concept>
<concept>
<code value="100081"/>
<display value="Neuroendocrine tumor of the rectum"/>
</concept>
<concept>
<code value="100082"/>
<display value="Neuroendocrine tumor of anal canal"/>
</concept>
<concept>
<code value="100083"/>
<display value="Laryngeal neuroendocrine tumor"/>
</concept>
<concept>
<code value="100084"/>
<display value="Middle ear neuroendocrine tumor"/>
</concept>
<concept>
<code value="100085"/>
<display value="Primary hepatic neuroendocrine carcinoma"/>
</concept>
<concept>
<code value="100086"/>
<display value="Gallbladder neuroendocrine tumor"/>
</concept>
<concept>
<code value="100093"/>
<display value="Carcinoid syndrome"/>
</concept>
<concept>
<code value="1001"/>
<display value="2q37 microdeletion syndrome"/>
</concept>
<concept>
<code value="1003"/>
<display value="Scalp defects-postaxial polydactyly syndrome"/>
</concept>
<concept>
<code value="1005"/>
<display
value="Alopecia-contractures-dwarfism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="1006"/>
<display value="Alopecia antibody deficiency"/>
</concept>
<concept>
<code value="1008"/>
<display
value="Alopecia-epilepsy-pyorrhea-intellectual disability syndrome"/>
</concept>
<concept>
<code value="100924"/>
<display value="Porphyria due to ALA dehydratase deficiency"/>
</concept>
<concept>
<code value="100973"/>
<display value="FRAXE intellectual disability"/>
</concept>
<concept>
<code value="100974"/>
<display value="FRAXF syndrome"/>
</concept>
<concept>
<code value="100976"/>
<display value="Bathing suit ichthyosis"/>
</concept>
<concept>
<code value="100978"/>
<display
value="Cloverleaf skull-asphyxiating thoracic dysplasia syndrome"/>
</concept>
<concept>
<code value="100984"/>
<display value="Autosomal dominant spastic paraplegia type 3"/>
</concept>
<concept>
<code value="100985"/>
<display value="Autosomal dominant spastic paraplegia type 4"/>
</concept>
<concept>
<code value="100986"/>
<display value="Autosomal recessive spastic paraplegia type 5A"/>
</concept>
<concept>
<code value="100988"/>
<display value="Autosomal dominant spastic paraplegia type 6"/>
</concept>
<concept>
<code value="100989"/>
<display value="Autosomal dominant spastic paraplegia type 8"/>
</concept>
<concept>
<code value="100991"/>
<display value="Autosomal dominant spastic paraplegia type 10"/>
</concept>
<concept>
<code value="100993"/>
<display value="Autosomal dominant spastic paraplegia type 12"/>
</concept>
<concept>
<code value="100994"/>
<display value="Autosomal dominant spastic paraplegia type 13"/>
</concept>
<concept>
<code value="100995"/>
<display value="Autosomal recessive spastic paraplegia type 14"/>
</concept>
<concept>
<code value="100996"/>
<display value="Autosomal recessive spastic paraplegia type 15"/>
</concept>
<concept>
<code value="100997"/>
<display value="X-linked spastic paraplegia type 16"/>
</concept>
<concept>
<code value="100998"/>
<display value="Autosomal dominant spastic paraplegia type 17"/>
</concept>
<concept>
<code value="100999"/>
<display value="Autosomal dominant spastic paraplegia type 19"/>
</concept>
<concept>
<code value="101"/>
<display value="Dentatorubral pallidoluysian atrophy"/>
</concept>
<concept>
<code value="1010"/>
<display
value="Autosomal dominant palmoplantar keratoderma and congenital alopecia"/>
</concept>
<concept>
<code value="101000"/>
<display value="Autosomal recessive spastic paraplegia type 20"/>
</concept>
<concept>
<code value="101001"/>
<display value="Autosomal recessive spastic paraplegia type 21"/>
</concept>
<concept>
<code value="101003"/>
<display value="Autosomal recessive spastic paraplegia type 23"/>
</concept>
<concept>
<code value="101004"/>
<display value="Autosomal recessive spastic paraplegia type 24"/>
</concept>
<concept>
<code value="101005"/>
<display value="Autosomal recessive spastic paraplegia type 25"/>
</concept>
<concept>
<code value="101006"/>
<display value="Autosomal recessive spastic paraplegia type 26"/>
</concept>
<concept>
<code value="101007"/>
<display value="Autosomal recessive spastic paraplegia type 27"/>
</concept>
<concept>
<code value="101008"/>
<display value="Autosomal recessive spastic paraplegia type 28"/>
</concept>
<concept>
<code value="101009"/>
<display value="Autosomal dominant spastic paraplegia type 29"/>
</concept>
<concept>
<code value="101010"/>
<display value="Autosomal spastic paraplegia type 30"/>
</concept>
<concept>
<code value="101011"/>
<display value="Autosomal dominant spastic paraplegia type 31"/>
</concept>
<concept>
<code value="101016"/>
<display value="Romano-Ward syndrome"/>
</concept>
<concept>
<code value="101023"/>
<display value="Cleft hard palate"/>
</concept>
<concept>
<code value="101028"/>
<display value="Transaldolase deficiency"/>
</concept>
<concept>
<code value="101029"/>
<display value="Sub-cortical nodular heterotopia"/>
</concept>
<concept>
<code value="101030"/>
<display value="Subependymal nodular heterotopia"/>
</concept>
<concept>
<code value="101039"/>
<display
value="Female restricted epilepsy with intellectual disability"/>
</concept>
<concept>
<code value="101041"/>
<display value="Familial hypofibrinogenemia"/>
</concept>
<concept>
<code value="101043"/>
<display value="Congenital aortic valve dysplasia"/>
</concept>
<concept>
<code value="101046"/>
<display value="Epilepsy with auditory features"/>
</concept>
<concept>
<code value="101049"/>
<display value="Familial hypocalciuric hypercalcemia type 2"/>
</concept>
<concept>
<code value="101050"/>
<display value="Familial hypocalciuric hypercalcemia type 3"/>
</concept>
<concept>
<code value="101063"/>
<display value="Situs inversus totalis"/>
</concept>
<concept>
<code value="101068"/>
<display value="Congenital stromal corneal dystrophy"/>
</concept>
<concept>
<code value="101070"/>
<display value="Bilateral frontoparietal polymicrogyria"/>
</concept>
<concept>
<code value="101071"/>
<display value="Unilateral hemispheric polymicrogyria"/>
</concept>
<concept>
<code value="101075"/>
<display value="X-linked Charcot-Marie-Tooth disease type 1"/>
</concept>
<concept>
<code value="101076"/>
<display value="X-linked Charcot-Marie-Tooth disease type 2"/>
</concept>
<concept>
<code value="101077"/>
<display value="X-linked Charcot-Marie-Tooth disease type 3"/>
</concept>
<concept>
<code value="101078"/>
<display value="X-linked Charcot-Marie-Tooth disease type 4"/>
</concept>
<concept>
<code value="101081"/>
<display value="Charcot-Marie-Tooth disease type 1A"/>
</concept>
<concept>
<code value="101082"/>
<display value="Charcot-Marie-Tooth disease type 1B"/>
</concept>
<concept>
<code value="101083"/>
<display value="Charcot-Marie-Tooth disease type 1C"/>
</concept>
<concept>
<code value="101084"/>
<display value="Charcot-Marie-Tooth disease type 1D"/>
</concept>
<concept>
<code value="101085"/>
<display value="Charcot-Marie-Tooth disease type 1F"/>
</concept>
<concept>
<code value="101088"/>
<display value="X-linked hyper-IgM syndrome"/>
</concept>
<concept>
<code value="101089"/>
<display value="Hyper-IgM syndrome type 2"/>
</concept>
<concept>
<code value="101090"/>
<display value="Hyper-IgM syndrome type 3"/>
</concept>
<concept>
<code value="101091"/>
<display value="Hyper-IgM syndrome type 4"/>
</concept>
<concept>
<code value="101092"/>
<display value="Hyper-IgM syndrome type 5"/>
</concept>
<concept>
<code value="101097"/>
<display
value="Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"/>
</concept>
<concept>
<code value="101101"/>
<display value="Charcot-Marie-Tooth disease type 2B2"/>
</concept>
<concept>
<code value="101102"/>
<display value="Charcot-Marie-Tooth disease type 2H"/>
</concept>
<concept>
<code value="101104"/>
<display value="Marin-Amat syndrome"/>
</concept>
<concept>
<code value="101108"/>
<display value="Spinocerebellar ataxia type 23"/>
</concept>
<concept>
<code value="101109"/>
<display value="Spinocerebellar ataxia type 28"/>
</concept>
<concept>
<code value="101110"/>
<display value="Spinocerebellar ataxia type 20"/>
</concept>
<concept>
<code value="101111"/>
<display value="Spinocerebellar ataxia type 25"/>
</concept>
<concept>
<code value="101112"/>
<display value="Spinocerebellar ataxia type 26"/>
</concept>
<concept>
<code value="101150"/>
<display value="Autosomal recessive dopa-responsive dystonia"/>
</concept>
<concept>
<code value="101206"/>
<display
value="Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome"/>
</concept>
<concept>
<code value="101330"/>
<display value="Porphyria cutanea tarda"/>
</concept>
<concept>
<code value="101334"/>
<display value="African tick typhus"/>
</concept>
<concept>
<code value="101351"/>
<display value="Familial isolated congenital asplenia"/>
</concept>
<concept>
<code value="1014"/>
<display
value="Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome"/>
</concept>
<concept>
<code value="101685"/>
<display value="Rare non-syndromic intellectual disability"/>
</concept>
<concept>
<code value="1018"/>
<display value="X-linked Alport syndrome-diffuse leiomyomatosis"/>
</concept>
<concept>
<code value="101932"/>
<display value="Anomaly of the mitral subvalvular apparatus"/>
</concept>
<concept>
<code value="102"/>
<display value="Multiple system atrophy"/>
</concept>
<concept>
<code value="1020"/>
<display value="Early-onset autosomal dominant Alzheimer disease"/>
</concept>
<concept>
<code value="1021"/>
<display value="Amaurosis-hypertrichosis syndrome"/>
</concept>
<concept>
<code value="1023"/>
<display value="Congenital generalized hypertrichosis, Ambras type"/>
</concept>
<concept>
<code value="102379"/>
<display
value="Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent"/>
</concept>
<concept>
<code value="102381"/>
<display
value="Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"/>
</concept>
<concept>
<code value="102724"/>
<display
value="Acute myeloid leukemia with t(8;21)(q22;q22) translocation"/>
</concept>
<concept>
<code value="1028"/>
<display value="Amelo-onycho-hypohidrotic syndrome"/>
</concept>
<concept>
<code value="1031"/>
<display value="Enamel-renal syndrome"/>
</concept>
<concept>
<code value="1035"/>
<display value="Beta-mercaptolactate cysteine disulfiduria"/>
</concept>
<concept>
<code value="103907"/>
<display value="Chronic diarrhea due to glucoamylase deficiency"/>
</concept>
<concept>
<code value="103908"/>
<display value="Congenital sodium diarrhea"/>
</concept>
<concept>
<code value="103909"/>
<display value="Trehalase deficiency"/>
</concept>
<concept>
<code value="103910"/>
<display value="Congenital enterocyte heparan sulfate deficiency"/>
</concept>
<concept>
<code value="103918"/>
<display value="Tropical pancreatitis"/>
</concept>
<concept>
<code value="103920"/>
<display value="Undetermined colitis"/>
</concept>
<concept>
<code value="104"/>
<display value="Leber hereditary optic neuropathy"/>
</concept>
<concept>
<code value="1040"/>
<display value="Metaphyseal anadysplasia"/>
</concept>
<concept>
<code value="104075"/>
<display value="Adenocarcinoma of the small intestine"/>
</concept>
<concept>
<code value="104076"/>
<display value="Leiomyosarcoma of small intestine"/>
</concept>
<concept>
<code value="104077"/>
<display value="Myopathic intestinal pseudoobstruction"/>
</concept>
<concept>
<code value="104078"/>
<display value="Unclassified intestinal pseudoobstruction"/>
</concept>
<concept>
<code value="1041"/>
<display value="Hydrops fetalis"/>
</concept>
<concept>
<code value="1046"/>
<display value="Lethal hemolytic anemia-genital anomalies syndrome"/>
</concept>
<concept>
<code value="1048"/>
<display value="Isolated anencephaly/exencephaly"/>
</concept>
<concept>
<code value="105"/>
<display value="Atresia of urethra"/>
</concept>
<concept>
<code value="1051"/>
<display value="Ramos-Arroyo syndrome"/>
</concept>
<concept>
<code value="1052"/>
<display value="Mosaic variegated aneuploidy syndrome"/>
</concept>
<concept>
<code value="1053"/>
<display value="Vein of Galen aneurysmal malformation"/>
</concept>
<concept>
<code value="1054"/>
<display value="Aneurysm of sinus of Valsalva"/>
</concept>
<concept>
<code value="1055"/>
<display value="Congenital left ventricular aneurysm"/>
</concept>
<concept>
<code value="1059"/>
<display value="Blue rubber bleb nevus"/>
</concept>
<concept>
<code value="1062"/>
<display value="Hereditary neurocutaneous malformation"/>
</concept>
<concept>
<code value="1063"/>
<display value="Tufted angioma"/>
</concept>
<concept>
<code value="1064"/>
<display
value="Aniridia-renal agenesis-psychomotor retardation syndrome"/>
</concept>
<concept>
<code value="1065"/>
<display
value="Aniridia-cerebellar ataxia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="1067"/>
<display
value="Aniridia-ptosis-intellectual disability-familial obesity syndrome"/>
</concept>
<concept>
<code value="1068"/>
<display value="Aniridia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="1069"/>
<display value="Aniridia-absent patella syndrome"/>
</concept>
<concept>
<code value="107"/>
<display value="BOR syndrome"/>
</concept>
<concept>
<code value="1070"/>
<display value="Anisakiasis"/>
</concept>
<concept>
<code value="1071"/>
<display
value="Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"/>
</concept>
<concept>
<code value="1072"/>
<display
value="Ankyloblepharon filiforme adnatum-cleft palate syndrome"/>
</concept>
<concept>
<code value="1074"/>
<display
value="Ankyloblepharon filiforme adnatum-imperforate anus syndrome"/>
</concept>
<concept>
<code value="1077"/>
<display value="Dental ankylosis"/>
</concept>
<concept>
<code value="1078"/>
<display
value="Thumb stiffness-brachydactyly-intellectual disability syndrome"/>
</concept>
<concept>
<code value="108"/>
<display value="Babesiosis"/>
</concept>
<concept>
<code value="1083"/>
<display value="Microlissencephaly"/>
</concept>
<concept>
<code value="1084"/>
<display
value="Isolated lissencephaly type 1 without known genetic defects"/>
</concept>
<concept>
<code value="109"/>
<display value="Bannayan-Riley-Ruvalcaba syndrome"/>
</concept>
<concept>
<code value="1094"/>
<display value="Anonychia-microcephaly syndrome"/>
</concept>
<concept>
<code value="11"/>
<display value="Pentasomy X syndrome"/>
</concept>
<concept>
<code value="110"/>
<display value="Bardet-Biedl syndrome"/>
</concept>
<concept>
<code value="1101"/>
<display
value="Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="1104"/>
<display value="Anophthalmia plus syndrome"/>
</concept>
<concept>
<code value="1106"/>
<display value="Microphthalmia with limb anomalies"/>
</concept>
<concept>
<code value="111"/>
<display value="Barth syndrome"/>
</concept>
<concept>
<code value="1110"/>
<display
value="Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="1112"/>
<display
value="Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"/>
</concept>
<concept>
<code value="1113"/>
<display value="Aphalangy-syndactyly-microcephaly syndrome"/>
</concept>
<concept>
<code value="1114"/>
<display value="Aplasia cutis congenita"/>
</concept>
<concept>
<code value="1116"/>
<display
value="Aplasia cutis congenita-intestinal lymphangiectasia syndrome"/>
</concept>
<concept>
<code value="1117"/>
<display value="Aplasia cutis-myopia syndrome"/>
</concept>
<concept>
<code value="1118"/>
<display value="Fibular aplasia-ectrodactyly syndrome"/>
</concept>
<concept>
<code value="112"/>
<display value="Bartter syndrome"/>
</concept>
<concept>
<code value="1120"/>
<display value="Lung agenesis-heart defect-thumb anomalies syndrome"/>
</concept>
<concept>
<code value="1121"/>
<display value="Radial deficiency-tibial hypoplasia syndrome"/>
</concept>
<concept>
<code value="1122"/>
<display value="Ulnar hypoplasia-split foot syndrome"/>
</concept>
<concept>
<code value="1123"/>
<display value="Caudal appendage-deafness syndrome"/>
</concept>
<concept>
<code value="1125"/>
<display value="Ocular motor apraxia, Cogan type"/>
</concept>
<concept>
<code value="1126"/>
<display value="Aprosencephaly cerebellar dysgenesis"/>
</concept>
<concept>
<code value="1129"/>
<display
value="Arachnodactyly-abnormal ossification-intellectual disability syndrome"/>
</concept>
<concept>
<code value="113"/>
<display value="Bazex-Dupré-Christol syndrome"/>
</concept>
<concept>
<code value="1130"/>
<display
value="Arachnodactyly-intellectual disability-dysmorphism syndrome"/>
</concept>
<concept>
<code value="1131"/>
<display value="X-linked mandibulofacial dysostosis"/>
</concept>
<concept>
<code value="1133"/>
<display value="AREDYLD syndrome"/>
</concept>
<concept>
<code value="1134"/>
<display value="Isolated arrhinia"/>
</concept>
<concept>
<code value="114"/>
<display value="Auriculoosteodysplasia"/>
</concept>
<concept>
<code value="1143"/>
<display value="Neurogenic arthrogryposis multiplex congenita"/>
</concept>
<concept>
<code value="1144"/>
<display
value="Arthrogryposis-like hand anomaly-sensorineural deafness syndrome"/>
</concept>
<concept>
<code value="1145"/>
<display value="Infantile-onset X-linked spinal muscular atrophy"/>
</concept>
<concept>
<code value="1146"/>
<display value="Distal arthrogryposis type 1"/>
</concept>
<concept>
<code value="1147"/>
<display value="Sheldon-Hall syndrome"/>
</concept>
<concept>
<code value="1149"/>
<display value="Kuskokwim syndrome"/>
</concept>
<concept>
<code value="115"/>
<display value="Congenital contractural arachnodactyly"/>
</concept>
<concept>
<code value="1150"/>
<display
value="Arthrogryposis multiplex congenita-whistling face syndrome"/>
</concept>
<concept>
<code value="1154"/>
<display
value="Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"/>
</concept>
<concept>
<code value="1159"/>
<display value="Progressive pseudorheumatoid dysplasia"/>
</concept>
<concept>
<code value="116"/>
<display value="Beckwith-Wiedemann syndrome"/>
</concept>
<concept>
<code value="1160"/>
<display value="Chylous ascites"/>
</concept>
<concept>
<code value="1163"/>
<display value="Aspergillosis"/>
</concept>
<concept>
<code value="1164"/>
<display value="Allergic bronchopulmonary aspergillosis"/>
</concept>
<concept>
<code value="1166"/>
<display
value="Congenital unilateral hypoplasia of depressor anguli oris"/>
</concept>
<concept>
<code value="1168"/>
<display value="Ataxia-oculomotor apraxia type 1"/>
</concept>
<concept>
<code value="117"/>
<display value="Behçet disease"/>
</concept>
<concept>
<code value="1170"/>
<display
value="Autosomal recessive cerebelloparenchymal disorder type 3"/>
</concept>
<concept>
<code value="1171"/>
<display
value="Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"/>
</concept>
<concept>
<code value="1173"/>
<display value="Cerebellar ataxia-hypogonadism syndrome"/>
</concept>
<concept>
<code value="1174"/>
<display value="Cerebellar ataxia-ectodermal dysplasia syndrome"/>
</concept>
<concept>
<code value="1175"/>
<display value="X-linked progressive cerebellar ataxia"/>
</concept>
<concept>
<code value="1177"/>
<display
value="Early-onset cerebellar ataxia with retained tendon reflexes"/>
</concept>
<concept>
<code value="1178"/>
<display value="Ataxia-tapetoretinal degeneration syndrome"/>
</concept>
<concept>
<code value="1179"/>
<display
value="Benign paroxysmal tonic upgaze of childhood with ataxia"/>
</concept>
<concept>
<code value="118"/>
<display value="Beta-mannosidosis"/>
</concept>
<concept>
<code value="1180"/>
<display value="Ataxia-hypogonadism-choroidal dystrophy syndrome"/>
</concept>
<concept>
<code value="1182"/>
<display value="Spastic ataxia with congenital miosis"/>
</concept>
<concept>
<code value="1183"/>
<display value="Opsoclonus-myoclonus syndrome"/>
</concept>
<concept>
<code value="1184"/>
<display value="Ataxia-photosensitivity-short stature syndrome"/>
</concept>
<concept>
<code value="1185"/>
<display value="Spinocerebellar ataxia-dysmorphism syndrome"/>
</concept>
<concept>
<code value="1186"/>
<display value="Infantile-onset spinocerebellar ataxia"/>
</concept>
<concept>
<code value="1187"/>
<display value="Lethal ataxia with deafness and optic atrophy"/>
</concept>
<concept>
<code value="1188"/>
<display value="Ataxia-deafness-intellectual disability syndrome"/>
</concept>
<concept>
<code value="119"/>
<display
value="Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"/>
</concept>
<concept>
<code value="1190"/>
<display value="Atelosteogenesis type I"/>
</concept>
<concept>
<code value="1192"/>
<display
value="Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"/>
</concept>
<concept>
<code value="1193"/>
<display value="Atkin-Flaitz syndrome"/>
</concept>
<concept>
<code value="1194"/>
<display
value="TMEM70-related mitochondrial encephalo-cardio-myopathy"/>
</concept>
<concept>
<code value="1195"/>
<display value="Congenital atransferrinemia"/>
</concept>
<concept>
<code value="1198"/>
<display value="Colonic atresia"/>
</concept>
<concept>
<code value="1199"/>
<display value="Esophageal atresia"/>
</concept>
<concept>
<code value="1200"/>
<display value="Burn-McKeown syndrome"/>
</concept>
<concept>
<code value="1201"/>
<display value="Small bowel atresia"/>
</concept>
<concept>
<code value="1202"/>
<display value="Larynx atresia"/>
</concept>
<concept>
<code value="1203"/>
<display value="Duodenal atresia"/>
</concept>
<concept>
<code value="1205"/>
<display value="Mitral atresia"/>
</concept>
<concept>
<code value="1207"/>
<display value="Pulmonary atresia with ventricular septal defect"/>
</concept>
<concept>
<code value="1208"/>
<display
value="Pulmonary atresia-intact ventricular septum syndrome"/>
</concept>
<concept>
<code value="1209"/>
<display value="Tricuspid atresia"/>
</concept>
<concept>
<code value="1214"/>
<display value="Progressive hemifacial atrophy"/>
</concept>
<concept>
<code value="1215"/>
<display value="Autosomal dominant optic atrophy plus syndrome"/>
</concept>
<concept>
<code value="1216"/>
<display
value="Autosomal dominant congenital benign spinal muscular atrophy"/>
</concept>
<concept>
<code value="1217"/>
<display value="Spinal atrophy-ophthalmoplegia-pyramidal syndrome"/>
</concept>
<concept>
<code value="122"/>
<display value="Birt-Hogg-Dubé syndrome"/>
</concept>
<concept>
<code value="1221"/>
<display value="Cheilitis glandularis"/>
</concept>
<concept>
<code value="1223"/>
<display value="Balantidiasis"/>
</concept>
<concept>
<code value="1225"/>
<display value="Baller-Gerold syndrome"/>
</concept>
<concept>
<code value="1226"/>
<display value="Bamforth-Lazarus syndrome"/>
</concept>
<concept>
<code value="1227"/>
<display value="Bangstad syndrome"/>
</concept>
<concept>
<code value="1228"/>
<display value="Banki syndrome"/>
</concept>
<concept>
<code value="1229"/>
<display value="Congenital intrauterine infection-like syndrome"/>
</concept>
<concept>
<code value="123"/>
<display value="Björnstad syndrome"/>
</concept>
<concept>
<code value="1231"/>
<display value="Barber-Say syndrome"/>
</concept>
<concept>
<code value="1234"/>
<display value="Bartsocas-Papas syndrome"/>
</concept>
<concept>
<code value="1236"/>
<display
value="Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"/>
</concept>
<concept>
<code value="1237"/>
<display value="Beemer-Ertbruggen syndrome"/>
</concept>
<concept>
<code value="1239"/>
<display value="Behr syndrome"/>
</concept>
<concept>
<code value="124"/>
<display value="Diamond-Blackfan anemia"/>
</concept>
<concept>
<code value="1241"/>
<display value="Bencze syndrome"/>
</concept>
<concept>
<code value="1243"/>
<display value="Best vitelliform macular dystrophy"/>
</concept>
<concept>
<code value="1246"/>
<display value="Brachydactyly-nystagmus-cerebellar ataxia syndrome"/>
</concept>
<concept>
<code value="1247"/>
<display value="Schistosomiasis"/>
</concept>
<concept>
<code value="1248"/>
<display value="Maxillonasal dysplasia"/>
</concept>
<concept>
<code value="125"/>
<display value="Bloom syndrome"/>
</concept>
<concept>
<code value="1252"/>
<display value="Blepharonasofacial malformation syndrome"/>
</concept>
<concept>
<code value="1253"/>
<display value="Ascher syndrome"/>
</concept>
<concept>
<code value="1259"/>
<display value="Blepharoptosis-myopia-ectopia lentis syndrome"/>
</concept>
<concept>
<code value="126"/>
<display
value="Blepharophimosis-ptosis-epicanthus inversus syndrome"/>
</concept>
<concept>
<code value="1261"/>
<display value="Bonnemann-Meinecke-Reich syndrome"/>
</concept>
<concept>
<code value="1262"/>
<display value="Böök syndrome"/>
</concept>
<concept>
<code value="1263"/>
<display value="Boomerang dysplasia"/>
</concept>
<concept>
<code value="1264"/>
<display value="Tricho-retino-dento-digital syndrome"/>
</concept>
<concept>
<code value="1267"/>
<display value="Botulism"/>
</concept>
<concept>
<code value="127"/>
<display value="Borjeson-Forssman-Lehmann syndrome"/>
</concept>
<concept>
<code value="1270"/>
<display value="Bowen-Conradi syndrome"/>
</concept>
<concept>
<code value="1272"/>
<display value="Aymé-Gripp syndrome"/>
</concept>
<concept>
<code value="1275"/>
<display value="Brachydactyly-elbow wrist dysplasia syndrome"/>
</concept>
<concept>
<code value="1276"/>
<display value="Brachydactyly-arterial hypertension syndrome"/>
</concept>
<concept>
<code value="1277"/>
<display
value="Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"/>
</concept>
<concept>
<code value="1278"/>
<display value="Brachydactyly-preaxial hallux varus syndrome"/>
</concept>
<concept>
<code value="128"/>
<display value="Diphyllobothriasis"/>
</concept>
<concept>
<code value="129"/>
<display value="Pseudopelade of Brocq"/>
</concept>
<concept>
<code value="1292"/>
<display
value="Brachymorphism-onychodysplasia-dysphalangism syndrome"/>
</concept>
<concept>
<code value="1295"/>
<display value="Brachytelephalangy-dysmorphism-Kallmann syndrome"/>
</concept>
<concept>
<code value="1296"/>
<display value="Lambert syndrome"/>
</concept>
<concept>
<code value="1297"/>
<display value="Branchio-oculo-facial syndrome"/>
</concept>
<concept>
<code value="1299"/>
<display value="Branchioskeletogenital syndrome"/>
</concept>
<concept>
<code value="13"/>
<display value="6-pyruvoyl-tetrahydropterin synthase deficiency"/>
</concept>
<concept>
<code value="130"/>
<display value="Brugada syndrome"/>
</concept>
<concept>
<code value="1300"/>
<display value="Autosomal dominant popliteal pterygium syndrome"/>
</concept>
<concept>
<code value="1302"/>
<display value="Cryptogenic organizing pneumonia"/>
</concept>
<concept>
<code value="1304"/>
<display value="Brucellosis"/>
</concept>
<concept>
<code value="1305"/>
<display value="Feingold syndrome"/>
</concept>
<concept>
<code value="1307"/>
<display value="Distal limb deficiencies-micrognathia syndrome"/>
</concept>
<concept>
<code value="1308"/>
<display value="C syndrome"/>
</concept>
<concept>
<code value="1309"/>
<display value="Medullary sponge kidney"/>
</concept>
<concept>
<code value="131"/>
<display value="Budd-Chiari syndrome"/>
</concept>
<concept>
<code value="1310"/>
<display value="Caffey disease"/>
</concept>
<concept>
<code value="1313"/>
<display value="Infantile choroidocerebral calcification syndrome"/>
</concept>
<concept>
<code value="1314"/>
<display value="Symmetrical thalamic calcifications"/>
</concept>
<concept>
<code value="1318"/>
<display value="Campomelia, Cumming type"/>
</concept>
<concept>
<code value="1319"/>
<display value="Camptobrachydactyly"/>
</concept>
<concept>
<code value="132"/>
<display value="Hereditary butyrylcholinesterase deficiency"/>
</concept>
<concept>
<code value="1320"/>
<display value="Idiopathic camptocormia"/>
</concept>
<concept>
<code value="1321"/>
<display
value="Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="1323"/>
<display
value="Camptodactyly-joint contractures-facial skeletal defects syndrome"/>
</concept>
<concept>
<code value="1325"/>
<display value="Camptodactyly-taurinuria syndrome"/>
</concept>
<concept>
<code value="1326"/>
<display value="Camptodactyly syndrome, Guadalajara type 2"/>
</concept>
<concept>
<code value="1327"/>
<display value="Camptodactyly syndrome, Guadalajara type 1"/>
</concept>
<concept>
<code value="1328"/>
<display value="Camurati-Engelmann disease"/>
</concept>
<concept>
<code value="1329"/>
<display value="Complete atrioventricular septal defect"/>
</concept>
<concept>
<code value="133"/>
<display value="Chronic beryllium disease"/>
</concept>
<concept>
<code value="1330"/>
<display value="Partial atrioventricular septal defect"/>
</concept>
<concept>
<code value="1331"/>
<display value="Familial prostate cancer"/>
</concept>
<concept>
<code value="1332"/>
<display value="Medullary thyroid carcinoma"/>
</concept>
<concept>
<code value="1333"/>
<display value="Familial pancreatic carcinoma"/>
</concept>
<concept>
<code value="1334"/>
<display value="Chronic mucocutaneous candidiasis"/>
</concept>
<concept>
<code value="1335"/>
<display value="Pentalogy of Cantrell"/>
</concept>
<concept>
<code value="1336"/>
<display value="Hyperkeratosis-hyperpigmentation syndrome"/>
</concept>
<concept>
<code value="1338"/>
<display
value="Heart defect-tongue hamartoma-polysyndactyly syndrome"/>
</concept>
<concept>
<code value="134"/>
<display value="Beta-ketothiolase deficiency"/>
</concept>
<concept>
<code value="1340"/>
<display value="Cardiofaciocutaneous syndrome"/>
</concept>
<concept>
<code value="1342"/>
<display value="Heart-hand syndrome type 3"/>
</concept>
<concept>
<code value="1344"/>
<display value="Isolated atrial standstill"/>
</concept>
<concept>
<code value="1345"/>
<display value="Cardiomyopathy-cataract-hip spine disease syndrome"/>
</concept>
<concept>
<code value="1349"/>
<display
value="Mitochondrial DNA-related cardiomyopathy and hearing loss"/>
</concept>
<concept>
<code value="135"/>
<display value="CACH syndrome"/>
</concept>
<concept>
<code value="1350"/>
<display value="Heart-hand syndrome type 2"/>
</concept>
<concept>
<code value="1352"/>
<display
value="Atrioventricular defect-blepharophimosis-radial and anal defect syndrome"/>
</concept>
<concept>
<code value="1354"/>
<display value="Heart defects-limb shortening syndrome"/>
</concept>
<concept>
<code value="1355"/>
<display
value="Congenital heart defect-round face-developmental delay syndrome"/>
</concept>
<concept>
<code value="1358"/>
<display value="Carey-Fineman-Ziter syndrome"/>
</concept>
<concept>
<code value="1359"/>
<display value="Carney complex"/>
</concept>
<concept>
<code value="136"/>
<display
value="Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"/>
</concept>
<concept>
<code value="1361"/>
<display value="Carnosinase deficiency"/>
</concept>
<concept>
<code value="1366"/>
<display
value="Autosomal recessive palmoplantar keratoderma and congenital alopecia"/>
</concept>
<concept>
<code value="1368"/>
<display value="Cataract-ataxia-deafness syndrome"/>
</concept>
<concept>
<code value="1369"/>
<display
value="Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"/>
</concept>
<concept>
<code value="1373"/>
<display
value="Cataract-aberrant oral frenula-growth delay syndrome"/>
</concept>
<concept>
<code value="1375"/>
<display
value="Cataract-hypertrichosis-intellectual disability syndrome"/>
</concept>
<concept>
<code value="137577"/>
<display value="Neonatal hypoxic and ischemic brain injury"/>
</concept>
<concept>
<code value="137583"/>
<display value="Vulvar intraepithelial neoplasia"/>
</concept>
<concept>
<code value="137593"/>
<display value="Infectious epithelial keratitis"/>
</concept>
<concept>
<code value="137596"/>
<display value="Neurotrophic keratopathy"/>
</concept>
<concept>
<code value="137599"/>
<display value="Herpes simplex virus stromal keratitis"/>
</concept>
<concept>
<code value="137602"/>
<display value="Corneal endotheliitis"/>
</concept>
<concept>
<code value="137605"/>
<display value="Legius syndrome"/>
</concept>
<concept>
<code value="137608"/>
<display
value="Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"/>
</concept>
<concept>
<code value="137617"/>
<display value="Nephrogenic systemic fibrosis"/>
</concept>
<concept>
<code value="137622"/>
<display
value="Intractable diarrhea-choanal atresia-eye anomalies syndrome"/>
</concept>
<concept>
<code value="137625"/>
<display
value="Glycogen storage disease due to muscle and heart glycogen synthase deficiency"/>
</concept>
<concept>
<code value="137628"/>
<display value="Cardiac anomalies-heterotaxy syndrome"/>
</concept>
<concept>
<code value="137631"/>
<display
value="Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"/>
</concept>
<concept>
<code value="137634"/>
<display value="Overgrowth-macrocephaly-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="137639"/>
<display
value="Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"/>
</concept>
<concept>
<code value="137672"/>
<display value="Pellucid marginal degeneration"/>
</concept>
<concept>
<code value="137675"/>
<display value="Histiocytoid cardiomyopathy"/>
</concept>
<concept>
<code value="137678"/>
<display
value="Spondyloepiphyseal dysplasia with metatarsal shortening"/>
</concept>
<concept>
<code value="137681"/>
<display
value="Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"/>
</concept>
<concept>
<code value="137686"/>
<display value="Asherman syndrome"/>
</concept>
<concept>
<code value="137698"/>
<display
value="Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk"/>
</concept>
<concept>
<code value="1377"/>
<display value="Cataract-microcornea syndrome"/>
</concept>
<concept>
<code value="137754"/>
<display value="Aminoacylase 1 deficiency"/>
</concept>
<concept>
<code value="137776"/>
<display value="Lethal congenital contracture syndrome type 2"/>
</concept>
<concept>
<code value="137783"/>
<display value="Lethal congenital contracture syndrome type 3"/>
</concept>
<concept>
<code value="137810"/>
<display value="Nodular cutaneous amyloidosis"/>
</concept>
<concept>
<code value="137814"/>
<display value="Macular amyloidosis"/>
</concept>
<concept>
<code value="137817"/>
<display value="Arachnoiditis"/>
</concept>
<concept>
<code value="137820"/>
<display value="Extrapelvic endometriosis"/>
</concept>
<concept>
<code value="137831"/>
<display
value="X-linked intellectual disability-cerebellar hypoplasia syndrome"/>
</concept>
<concept>
<code value="137834"/>
<display value="Frank-Ter Haar syndrome"/>
</concept>
<concept>
<code value="137839"/>
<display value="Lemierre syndrome"/>
</concept>
<concept>
<code value="137867"/>
<display value="Madras motor neuron disease"/>
</concept>
<concept>
<code value="137888"/>
<display value="Auriculocondylar syndrome"/>
</concept>
<concept>
<code value="137893"/>
<display
value="Male infertility due to large-headed multiflagellar polyploid spermatozoa"/>
</concept>
<concept>
<code value="137898"/>
<display
value="Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"/>
</concept>
<concept>
<code value="137908"/>
<display value="Hypotonia with lactic acidemia and hyperammonemia"/>
</concept>
<concept>
<code value="137914"/>
<display value="Choanal atresia"/>
</concept>
<concept>
<code value="137917"/>
<display value="Choanal atresia, unilateral"/>
</concept>
<concept>
<code value="137920"/>
<display value="Choanal atresia, bilateral"/>
</concept>
<concept>
<code value="137926"/>
<display value="Primary laryngeal lymphangioma"/>
</concept>
<concept>
<code value="137929"/>
<display value="Neonatal brainstem dysfunction"/>
</concept>
<concept>
<code value="137932"/>
<display value="Congenital laryngeal palsy"/>
</concept>
<concept>
<code value="137935"/>
<display value="Airway infantile hemangioma"/>
</concept>
<concept>
<code value="138"/>
<display value="CHARGE syndrome"/>
</concept>
<concept>
<code value="1380"/>
<display value="Cataract-nephropathy-encephalopathy syndrome"/>
</concept>
<concept>
<code value="1381"/>
<display
value="Cataract-intellectual disability-anal atresia-urinary defects syndrome"/>
</concept>
<concept>
<code value="1383"/>
<display value="Cataract-deafness-hypogonadism syndrome"/>
</concept>
<concept>
<code value="1387"/>
<display
value="Cataract-intellectual disability-hypogonadism syndrome"/>
</concept>
<concept>
<code value="1388"/>
<display value="Catel-Manzke syndrome"/>
</concept>
<concept>
<code value="1389"/>
<display
value="Cortical blindness-intellectual disability-polydactyly syndrome"/>
</concept>
<concept>
<code value="139"/>
<display value="CHILD syndrome"/>
</concept>
<concept>
<code value="1390"/>
<display
value="Night blindness-skeletal anomalies-dysmorphism syndrome"/>
</concept>
<concept>
<code value="1393"/>
<display value="Cerebrocostomandibular syndrome"/>
</concept>
<concept>
<code value="139396"/>
<display value="X-linked cerebral adrenoleukodystrophy"/>
</concept>
<concept>
<code value="139399"/>
<display value="Adrenomyeloneuropathy"/>
</concept>
<concept>
<code value="1394"/>
<display value="Cerebrofaciothoracic dysplasia"/>
</concept>
<concept>
<code value="139402"/>
<display
value="Drug reaction with eosinophilia and systemic symptoms"/>
</concept>
<concept>
<code value="139406"/>
<display value="Encephalopathy due to prosaposin deficiency"/>
</concept>
<concept>
<code value="139411"/>
<display value="Carney triad"/>
</concept>
<concept>
<code value="139414"/>
<display value="Congenital panfollicular nevus"/>
</concept>
<concept>
<code value="139417"/>
<display value="Acute transverse myelitis"/>
</concept>
<concept>
<code value="139423"/>
<display value="Idiopathic acute transverse myelitis"/>
</concept>
<concept>
<code value="139426"/>
<display value="Perioral myoclonia with absences"/>
</concept>
<concept>
<code value="139431"/>
<display value="Epilepsy with eyelid myoclonia"/>
</concept>
<concept>
<code value="139436"/>
<display value="Multicentric reticulohistiocytosis"/>
</concept>
<concept>
<code value="139441"/>
<display
value="Hypomyelination with atrophy of basal ganglia and cerebellum"/>
</concept>
<concept>
<code value="139444"/>
<display
value="Leukoencephalopathy with bilateral anterior temporal lobe cysts"/>
</concept>
<concept>
<code value="139447"/>
<display value="Progressive cavitating leukoencephalopathy"/>
</concept>
<concept>
<code value="139450"/>
<display
value="Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"/>
</concept>
<concept>
<code value="139455"/>
<display value="Autosomal recessive bestrophinopathy"/>
</concept>
<concept>
<code value="139466"/>
<display value="SERKAL syndrome"/>
</concept>
<concept>
<code value="139471"/>
<display value="Microphthalmia with brain and digit anomalies"/>
</concept>
<concept>
<code value="139474"/>
<display value="17q11.2 microduplication syndrome"/>
</concept>
<concept>
<code value="139480"/>
<display value="Autosomal recessive spastic paraplegia type 39"/>
</concept>
<concept>
<code value="139485"/>
<display
value="Autosomal recessive ataxia due to ubiquinone deficiency"/>
</concept>
<concept>
<code value="139507"/>
<display value="Dietary iron overload disease"/>
</concept>
<concept>
<code value="139512"/>
<display value="Neuropathy with hearing impairment"/>
</concept>
<concept>
<code value="139515"/>
<display value="Charcot-Marie-Tooth disease type 4J"/>
</concept>
<concept>
<code value="139518"/>
<display value="Distal hereditary motor neuropathy type 1"/>
</concept>
<concept>
<code value="139525"/>
<display value="Distal hereditary motor neuropathy type 2"/>
</concept>
<concept>
<code value="139536"/>
<display value="Distal hereditary motor neuropathy type 5"/>
</concept>
<concept>
<code value="139547"/>
<display value="Distal spinal muscular atrophy type 3"/>
</concept>
<concept>
<code value="139552"/>
<display value="Distal hereditary motor neuropathy, Jerash type"/>
</concept>
<concept>
<code value="139557"/>
<display value="X-linked distal spinal muscular atrophy type 3"/>
</concept>
<concept>
<code value="139564"/>
<display value="Hereditary sensory and autonomic neuropathy type 1B"/>
</concept>
<concept>
<code value="139573"/>
<display
value="Hereditary sensory and autonomic neuropathy with deafness and global delay"/>
</concept>
<concept>
<code value="139578"/>
<display
value="Mutilating hereditary sensory neuropathy with spastic paraplegia"/>
</concept>
<concept>
<code value="139583"/>
<display
value="X-linked hereditary sensory and autonomic neuropathy with deafness"/>
</concept>
<concept>
<code value="139589"/>
<display value="Distal hereditary motor neuropathy type 7"/>
</concept>
<concept>
<code value="1397"/>
<display value="Hydrocephaly-cerebellar agenesis syndrome"/>
</concept>
<concept>
<code value="1398"/>
<display value="Isolated cerebellar agenesis"/>
</concept>
<concept>
<code value="1399"/>
<display value="Richards-Rundle syndrome"/>
</concept>
<concept>
<code value="14"/>
<display value="Abetalipoproteinemia"/>
</concept>
<concept>
<code value="140"/>
<display value="Campomelic dysplasia"/>
</concept>
<concept>
<code value="1401"/>
<display value="CHAND syndrome"/>
</concept>
<concept>
<code value="140286"/>
<display
value="Secondary hypoparathyroidism due to impaired parathormon secretion"/>
</concept>
<concept>
<code value="140436"/>
<display value="Primary intraosseous venous malformation"/>
</concept>
<concept>
<code value="140481"/>
<display value="Autosomal dominant slowed nerve conduction velocity"/>
</concept>
<concept>
<code value="1406"/>
<display value="Charlie M syndrome"/>
</concept>
<concept>
<code value="140896"/>
<display value="Severe acute respiratory syndrome"/>
</concept>
<concept>
<code value="140905"/>
<display
value="Hyperlipidemia due to hepatic triacylglycerol lipase deficiency"/>
</concept>
<concept>
<code value="140908"/>
<display value="Brachydactyly type B2"/>
</concept>
<concept>
<code value="140917"/>
<display value="Stapes ankylosis with broad thumbs and toes"/>
</concept>
<concept>
<code value="140922"/>
<display value="Titin-related limb-girdle muscular dystrophy R10"/>
</concept>
<concept>
<code value="140927"/>
<display value="Self-limited neonatal-infantile epilepsy"/>
</concept>
<concept>
<code value="140933"/>
<display value="Linear atrophoderma of Moulin"/>
</concept>
<concept>
<code value="140936"/>
<display value="Lelis syndrome"/>
</concept>
<concept>
<code value="140941"/>
<display
value="Short stature due to primary acid-labile subunit deficiency"/>
</concept>
<concept>
<code value="140944"/>
<display value="CLOVES syndrome"/>
</concept>
<concept>
<code value="140949"/>
<display value="Low-flow priapism"/>
</concept>
<concept>
<code value="140952"/>
<display
value="Syndactyly-telecanthus-anogenital and renal malformations syndrome"/>
</concept>
<concept>
<code value="140957"/>
<display value="Autosomal dominant macrothrombocytopenia"/>
</concept>
<concept>
<code value="140963"/>
<display value="Bilateral microtia-deafness-cleft palate syndrome"/>
</concept>
<concept>
<code value="140966"/>
<display value="Palmoplantar keratoderma, Nagashima type"/>
</concept>
<concept>
<code value="140969"/>
<display value="Saldino-Mainzer syndrome"/>
</concept>
<concept>
<code value="140976"/>
<display value="RHYNS syndrome"/>
</concept>
<concept>
<code value="140989"/>
<display value="Primary angiitis of the central nervous system"/>
</concept>
<concept>
<code value="141"/>
<display value="Canavan disease"/>
</concept>
<concept>
<code value="1410"/>
<display value="Uncombable hair syndrome"/>
</concept>
<concept>
<code value="141000"/>
<display value="Orofaciodigital syndrome type 11"/>
</concept>
<concept>
<code value="141007"/>
<display value="Orofaciodigital syndrome type 9"/>
</concept>
<concept>
<code value="141013"/>
<display value="First branchial cleft anomaly"/>
</concept>
<concept>
<code value="141022"/>
<display value="Second branchial cleft anomaly"/>
</concept>
<concept>
<code value="141030"/>
<display value="Third branchial cleft anomaly"/>
</concept>
<concept>
<code value="141037"/>
<display value="Fourth branchial cleft anomaly"/>
</concept>
<concept>
<code value="141046"/>
<display value="Cervical dermoid cyst"/>
</concept>
<concept>
<code value="141051"/>
<display value="Facial dermoid cyst"/>
</concept>
<concept>
<code value="141061"/>
<display value="Commissural lip fistula"/>
</concept>
<concept>
<code value="141064"/>
<display value="Isolated lower lip fistula"/>
</concept>
<concept>
<code value="141067"/>
<display value="Cervicofacial fibrochondroma"/>
</concept>
<concept>
<code value="141071"/>
<display value="Isolated digestive duplication cyst of the tongue"/>
</concept>
<concept>
<code value="141074"/>
<display value="External auditory canal aplasia/hypoplasia"/>
</concept>
<concept>
<code value="141077"/>
<display value="Epignathus"/>
</concept>
<concept>
<code value="141083"/>
<display value="Nasolacrimal duct cyst"/>
</concept>
<concept>
<code value="141091"/>
<display value="Polyrrhinia"/>
</concept>
<concept>
<code value="141096"/>
<display value="Supernumerary nostril"/>
</concept>
<concept>
<code value="141099"/>
<display value="Proboscis lateralis"/>
</concept>
<concept>
<code value="141103"/>
<display value="Nasal dermoid cyst"/>
</concept>
<concept>
<code value="141107"/>
<display value="Nasopharyngeal teratoma"/>
</concept>
<concept>
<code value="141112"/>
<display value="Nasal glial heterotopia"/>
</concept>
<concept>
<code value="141115"/>
<display value="Nasal ganglioglioma"/>
</concept>
<concept>
<code value="141118"/>
<display value="Nasal encephalocele"/>
</concept>
<concept>
<code value="141121"/>
<display value="Congenital subglottic stenosis"/>
</concept>
<concept>
<code value="141124"/>
<display value="Congenital laryngeal cyst"/>
</concept>
<concept>
<code value="141127"/>
<display value="Congenital tracheal stenosis"/>
</concept>
<concept>
<code value="141132"/>
<display value="Oculo-auriculo-vertebral spectrum"/>
</concept>
<concept>
<code value="141145"/>
<display value="Hemifacial hyperplasia"/>
</concept>
<concept>
<code value="141148"/>
<display value="Hemifacial myohyperplasia"/>
</concept>
<concept>
<code value="141152"/>
<display value="Isolated congenital hypoglossia/aglossia"/>
</concept>
<concept>
<code value="141163"/>
<display value="Glossopalatine ankylosis"/>
</concept>
<concept>
<code value="141168"/>
<display value="Frontonasal arteriovenous malformation"/>
</concept>
<concept>
<code value="141171"/>
<display value="Maxillary arteriovenous malformation"/>
</concept>
<concept>
<code value="141174"/>
<display value="Mandibular arteriovenous malformation"/>
</concept>
<concept>
<code value="141179"/>
<display value="Non-involuting congenital hemangioma"/>
</concept>
<concept>
<code value="141184"/>
<display value="Rapidly involuting congenital hemangioma"/>
</concept>
<concept>
<code value="141189"/>
<display value="Cerebrofacial arteriovenous metameric syndrome"/>
</concept>
<concept>
<code value="141194"/>
<display
value="Cerebrofacial arteriovenous metameric syndrome type 1"/>
</concept>
<concept>
<code value="141199"/>
<display
value="Cerebrofacial arteriovenous metameric syndrome type 3"/>
</concept>
<concept>
<code value="1412"/>
<display value="Tarsal-carpal coalition syndrome"/>
</concept>
<concept>
<code value="141209"/>
<display value="Diffuse lymphatic malformation"/>
</concept>
<concept>
<code value="141214"/>
<display value="Isolated congenital syngnathia"/>
</concept>
<concept>
<code value="141219"/>
<display value="Nasal dorsum fistula"/>
</concept>
<concept>
<code value="141239"/>
<display value="Median cleft of the upper lip and maxilla"/>
</concept>
<concept>
<code value="141242"/>
<display value="Paramedian nasal cleft"/>
</concept>
<concept>
<code value="141258"/>
<display value="Tessier number 4 facial cleft"/>
</concept>
<concept>
<code value="141261"/>
<display value="Tessier number 5 facial cleft"/>
</concept>
<concept>
<code value="141265"/>
<display value="Tessier number 6 facial cleft"/>
</concept>
<concept>
<code value="141276"/>
<display value="Tessier number 7 facial cleft"/>
</concept>
<concept>
<code value="141288"/>
<display value="Midline cervical cleft"/>
</concept>
<concept>
<code value="141291"/>
<display value="Cleft lip and alveolus"/>
</concept>
<concept>
<code value="141333"/>
<display value="Biemond syndrome type 2"/>
</concept>
<concept>
<code value="1414"/>
<display value="Cholestasis-lymphedema syndrome"/>
</concept>
<concept>
<code value="1415"/>
<display value="Hardikar syndrome"/>
</concept>
<concept>
<code value="1416"/>
<display value="Familial calcium pyrophosphate deposition"/>
</concept>
<concept>
<code value="142"/>
<display value="Anaplastic thyroid carcinoma"/>
</concept>
<concept>
<code value="1422"/>
<display
value="Chondrodysplasia-difference of sex development syndrome"/>
</concept>
<concept>
<code value="1423"/>
<display value="Lethal recessive chondrodysplasia"/>
</concept>
<concept>
<code value="1425"/>
<display value="Desbuquois syndrome"/>
</concept>
<concept>
<code value="1426"/>
<display value="Greenberg dysplasia"/>
</concept>
<concept>
<code value="1427"/>
<display
value="Autosomal recessive otospondylomegaepiphyseal dysplasia"/>
</concept>
<concept>
<code value="1429"/>
<display value="Benign hereditary chorea"/>
</concept>
<concept>
<code value="143"/>
<display value="Parathyroid carcinoma"/>
</concept>
<concept>
<code value="1433"/>
<display value="Choroidal atrophy-alopecia syndrome"/>
</concept>
<concept>
<code value="1435"/>
<display value="Xq21 microdeletion syndrome"/>
</concept>
<concept>
<code value="1436"/>
<display
value="X-linked skeletal dysplasia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="1437"/>
<display value="Ring chromosome 1 syndrome"/>
</concept>
<concept>
<code value="1438"/>
<display value="Ring chromosome 10 syndrome"/>
</concept>
<concept>
<code value="1439"/>
<display value="Ring chromosome 12 syndrome"/>
</concept>
<concept>
<code value="144"/>
<display value="Lynch syndrome"/>
</concept>
<concept>
<code value="1440"/>
<display value="Ring chromosome 14 syndrome"/>
</concept>
<concept>
<code value="1441"/>
<display value="Ring chromosome 17 syndrome"/>
</concept>
<concept>
<code value="1442"/>
<display value="Ring chromosome 18 syndrome"/>
</concept>
<concept>
<code value="1443"/>
<display value="Ring chromosome 19 syndrome"/>
</concept>
<concept>
<code value="1444"/>
<display value="Ring chromosome 20 syndrome"/>
</concept>
<concept>
<code value="1445"/>
<display value="Ring chromosome 21 syndrome"/>
</concept>
<concept>
<code value="1446"/>
<display value="Ring chromosome 22 syndrome"/>
</concept>
<concept>
<code value="1447"/>
<display value="Ring chromosome 4 syndrome"/>
</concept>
<concept>
<code value="1448"/>
<display value="Ring chromosome 6 syndrome"/>
</concept>
<concept>
<code value="1449"/>
<display value="Ring chromosome 7 syndrome"/>
</concept>
<concept>
<code value="145"/>
<display value="Hereditary breast and/or ovarian cancer syndrome"/>
</concept>
<concept>
<code value="1450"/>
<display value="Ring chromosome 8 syndrome"/>
</concept>
<concept>
<code value="1451"/>
<display value="CINCA syndrome"/>
</concept>
<concept>
<code value="1452"/>
<display value="Cleidocranial dysplasia"/>
</concept>
<concept>
<code value="1453"/>
<display value="Cleidorhizomelic syndrome"/>
</concept>
<concept>
<code value="1454"/>
<display value="Joubert syndrome with hepatic defect"/>
</concept>
<concept>
<code value="1456"/>
<display value="Middle aortic syndrome"/>
</concept>
<concept>
<code value="1457"/>
<display value="Aorta coarctation"/>
</concept>
<concept>
<code value="1458"/>
<display value="CODAS syndrome"/>
</concept>
<concept>
<code value="1459"/>
<display
value="Celiac disease-epilepsy-cerebral calcification syndrome"/>
</concept>
<concept>
<code value="146"/>
<display value="Differentiated thyroid carcinoma"/>
</concept>
<concept>
<code value="1460"/>
<display value="Isolated complex III deficiency"/>
</concept>
<concept>
<code value="1461"/>
<display value="Criss-cross heart"/>
</concept>
<concept>
<code value="1464"/>
<display value="Univentricular heart"/>
</concept>
<concept>
<code value="1465"/>
<display value="Coffin-Siris syndrome"/>
</concept>
<concept>
<code value="1466"/>
<display value="COFS syndrome"/>
</concept>
<concept>
<code value="1467"/>
<display value="Cogan syndrome"/>
</concept>
<concept>
<code value="147"/>
<display value="Carbamoyl-phosphate synthetase 1 deficiency"/>
</concept>
<concept>
<code value="1471"/>
<display value="Coloboma of macula-brachydactyly type B syndrome"/>
</concept>
<concept>
<code value="1473"/>
<display
value="Uveal coloboma-cleft lip and palate-intellectual disability"/>
</concept>
<concept>
<code value="1475"/>
<display value="Renal coloboma syndrome"/>
</concept>
<concept>
<code value="1478"/>
<display value="Interatrial communication"/>
</concept>
<concept>
<code value="1479"/>
<display
value="Atrial septal defect-atrioventricular conduction defects syndrome"/>
</concept>
<concept>
<code value="1482"/>
<display value="Gonococcal conjunctivitis"/>
</concept>
<concept>
<code value="1484"/>
<display
value="Contractures-ectodermal dysplasia-cleft lip/palate syndrome"/>
</concept>
<concept>
<code value="1485"/>
<display value="Arthrogryposis-hyperkeratosis syndrome, lethal form"/>
</concept>
<concept>
<code value="1486"/>
<display value="Lethal congenital contracture syndrome type 1"/>
</concept>
<concept>
<code value="1487"/>
<display value="Cooks syndrome"/>
</concept>
<concept>
<code value="1488"/>
<display value="Cooper-Jabs syndrome"/>
</concept>
<concept>
<code value="1489"/>
<display value="Whooping cough"/>
</concept>
<concept>
<code value="1490"/>
<display value="Corneal dystrophy-perceptive deafness syndrome"/>
</concept>
<concept>
<code value="1493"/>
<display value="Vici syndrome"/>
</concept>
<concept>
<code value="1495"/>
<display
value="Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome"/>
</concept>
<concept>
<code value="1496"/>
<display value="Corpus callosum agenesis-neuronopathy syndrome"/>
</concept>
<concept>
<code value="1497"/>
<display value="X-linked complicated corpus callosum dysgenesis"/>
</concept>
<concept>
<code value="15"/>
<display value="Achondroplasia"/>
</concept>
<concept>
<code value="150"/>
<display value="Nasopharyngeal carcinoma"/>
</concept>
<concept>
<code value="1501"/>
<display value="Adrenocortical carcinoma"/>
</concept>
<concept>
<code value="1506"/>
<display value="Thin ribs-tubular bones-dysmorphism syndrome"/>
</concept>
<concept>
<code value="1507"/>
<display value="Autosomal recessive Robinow syndrome"/>
</concept>
<concept>
<code value="1508"/>
<display value="Coxoauricular syndrome"/>
</concept>
<concept>
<code value="1509"/>
<display value="Coxopodopatellar syndrome"/>
</concept>
<concept>
<code value="1512"/>
<display value="Crane-Heise syndrome"/>
</concept>
<concept>
<code value="1513"/>
<display value="Craniodiaphyseal dysplasia"/>
</concept>
<concept>
<code value="1514"/>
<display value="Craniodigital-intellectual disability syndrome"/>
</concept>
<concept>
<code value="1515"/>
<display value="Cranioectodermal dysplasia"/>
</concept>
<concept>
<code value="1516"/>
<display
value="Non-syndromic bilambdoid and sagittal craniosynostosis"/>
</concept>
<concept>
<code value="1517"/>
<display value="Cantú syndrome"/>
</concept>
<concept>
<code value="1519"/>
<display value="SPECC1L-related hypertelorism syndrome"/>
</concept>
<concept>
<code value="1520"/>
<display value="Craniofrontonasal dysplasia"/>
</concept>
<concept>
<code value="1521"/>
<display value="Craniofrontonasal dysplasia-Poland anomaly syndrome"/>
</concept>
<concept>
<code value="1522"/>
<display value="Craniometaphyseal dysplasia"/>
</concept>
<concept>
<code value="1524"/>
<display value="Craniomicromelic syndrome"/>
</concept>
<concept>
<code value="1525"/>
<display value="Cranio-osteoarthropathy"/>
</concept>
<concept>
<code value="1527"/>
<display value="Craniosynostosis, Philadelphia type"/>
</concept>
<concept>
<code value="1528"/>
<display value="Craniotelencephalic dysplasia"/>
</concept>
<concept>
<code value="1529"/>
<display value="Craniofacial-deafness-hand syndrome"/>
</concept>
<concept>
<code value="1532"/>
<display value="Gómez-López-Hernández syndrome"/>
</concept>
<concept>
<code value="1538"/>
<display
value="Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"/>
</concept>
<concept>
<code value="154"/>
<display value="Familial isolated dilated cardiomyopathy"/>
</concept>
<concept>
<code value="1540"/>
<display value="Jackson-Weiss syndrome"/>
</concept>
<concept>
<code value="1541"/>
<display value="Craniosynostosis, Boston type"/>
</concept>
<concept>
<code value="1544"/>
<display value="Benign focal seizures of adolescence"/>
</concept>
<concept>
<code value="1545"/>
<display value="Crisponi syndrome"/>
</concept>
<concept>
<code value="1546"/>
<display value="Cryptococcosis"/>
</concept>
<concept>
<code value="1547"/>
<display
value="Cryptomicrotia-brachydactyly-excess fingertip arch syndrome"/>
</concept>
<concept>
<code value="1548"/>
<display
value="Cryptorchidism-arachnodactyly-intellectual disability syndrome"/>
</concept>
<concept>
<code value="1551"/>
<display value="Familial benign copper deficiency"/>
</concept>
<concept>
<code value="1552"/>
<display value="Currarino syndrome"/>
</concept>
<concept>
<code value="1553"/>
<display value="Curry-Jones syndrome"/>
</concept>
<concept>
<code value="1555"/>
<display
value="Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"/>
</concept>
<concept>
<code value="1556"/>
<display value="Cutis marmorata telangiectatica congenita"/>
</concept>
<concept>
<code value="155838"/>
<display value="Pinnae fistula or cyst"/>
</concept>
<concept>
<code value="155878"/>
<display value="Submucosal cleft palate"/>
</concept>
<concept>
<code value="155884"/>
<display value="Coloboma of superior eyelid"/>
</concept>
<concept>
<code value="155889"/>
<display value="Coloboma of inferior eyelid"/>
</concept>
<concept>
<code value="156"/>
<display value="Carnitine palmitoyl transferase 1A deficiency"/>
</concept>
<concept>
<code value="1560"/>
<display value="Cysticercosis"/>
</concept>
<concept>
<code value="1561"/>
<display value="Fatal infantile cytochrome C oxidase deficiency"/>
</concept>
<concept>
<code value="1563"/>
<display value="Dahlberg-Borer-Newcomer syndrome"/>
</concept>
<concept>
<code value="1566"/>
<display
value="Dandy-Walker malformation-postaxial polydactyly syndrome"/>
</concept>
<concept>
<code value="156728"/>
<display value="Spondyloepimetaphyseal dysplasia, matrilin-3 type"/>
</concept>
<concept>
<code value="156731"/>
<display value="Dyssegmental dysplasia, Rolland-Desbuquois type"/>
</concept>
<concept>
<code value="1568"/>
<display
value="X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"/>
</concept>
<concept>
<code value="157"/>
<display value="Carnitine palmitoyltransferase II deficiency"/>
</concept>
<concept>
<code value="1570"/>
<display value="Symbrachydactyly of hands and feet"/>
</concept>
<concept>
<code value="1571"/>
<display value="Knobloch syndrome"/>
</concept>
<concept>
<code value="157215"/>
<display
value="Hereditary hypophosphatemic rickets with hypercalciuria"/>
</concept>
<concept>
<code value="1573"/>
<display value="Hypotrichosis with juvenile macular degeneration"/>
</concept>
<concept>
<code value="1574"/>
<display
value="Retinal degeneration-nanophthalmos-glaucoma syndrome"/>
</concept>
<concept>
<code value="157713"/>
<display value="Congenital or early infantile CACH syndrome"/>
</concept>
<concept>
<code value="157716"/>
<display value="Late infantile CACH syndrome"/>
</concept>
<concept>
<code value="157719"/>
<display value="Juvenile or adult CACH syndrome"/>
</concept>
<concept>
<code value="157769"/>
<display value="Situs ambiguus"/>
</concept>
<concept>
<code value="157791"/>
<display value="Epithelioid hemangioendothelioma"/>
</concept>
<concept>
<code value="157794"/>
<display value="Hereditary mixed polyposis syndrome"/>
</concept>
<concept>
<code value="157798"/>
<display value="Serrated polyposis syndrome"/>
</concept>
<concept>
<code value="1578"/>
<display value="Pterin-4 alpha-carbinolamine dehydratase deficiency"/>
</concept>
<concept>
<code value="157801"/>
<display
value="Mesoaxial synostotic syndactyly with phalangeal reduction"/>
</concept>
<concept>
<code value="157808"/>
<display value="Isolated pseudoarthrosis of the limbs"/>
</concept>
<concept>
<code value="157820"/>
<display value="Cold-induced sweating syndrome"/>
</concept>
<concept>
<code value="157823"/>
<display value="Klüver-Bucy syndrome"/>
</concept>
<concept>
<code value="157826"/>
<display value="Congenital epulis"/>
</concept>
<concept>
<code value="157832"/>
<display value="Craniorhiny"/>
</concept>
<concept>
<code value="157835"/>
<display value="Paroxysmal hemicrania"/>
</concept>
<concept>
<code value="157846"/>
<display value="Neuroferritinopathy"/>
</concept>
<concept>
<code value="157850"/>
<display value="Pantothenate kinase-associated neurodegeneration"/>
</concept>
<concept>
<code value="157941"/>
<display value="Huntington disease-like 1"/>
</concept>
<concept>
<code value="157946"/>
<display value="Huntington disease-like 3"/>
</concept>
<concept>
<code value="157949"/>
<display value="Combined immunodeficiency with granulomatosis"/>
</concept>
<concept>
<code value="157954"/>
<display value="ANE syndrome"/>
</concept>
<concept>
<code value="157962"/>
<display value="Oculoauricular syndrome, Schorderet type"/>
</concept>
<concept>
<code value="157965"/>
<display
value="SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="157973"/>
<display value="Congenital muscular dystrophy due to LMNA mutation"/>
</concept>
<concept>
<code value="157991"/>
<display value="Generalized eruptive histiocytosis"/>
</concept>
<concept>
<code value="157997"/>
<display value="Benign cephalic histiocytosis"/>
</concept>
<concept>
<code value="158"/>
<display value="Systemic primary carnitine deficiency"/>
</concept>
<concept>
<code value="158000"/>
<display value="Juvenile xanthogranuloma"/>
</concept>
<concept>
<code value="158003"/>
<display value="Xanthoma disseminatum"/>
</concept>
<concept>
<code value="158008"/>
<display value="Papular xanthoma"/>
</concept>
<concept>
<code value="158011"/>
<display value="Necrobiotic xanthogranuloma"/>
</concept>
<concept>
<code value="158014"/>
<display value="Rosaï-Dorfman disease"/>
</concept>
<concept>
<code value="158019"/>
<display value="Indeterminate cell histiocytosis"/>
</concept>
<concept>
<code value="158022"/>
<display value="Progressive nodular histiocytosis"/>
</concept>
<concept>
<code value="158025"/>
<display value="Hereditary progressive mucinous histiocytosis"/>
</concept>
<concept>
<code value="158048"/>
<display
value="Hemophagocytic syndrome associated with an infection"/>
</concept>
<concept>
<code value="158057"/>
<display
value="Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"/>
</concept>
<concept>
<code value="158061"/>
<display value="Macrophage activation syndrome"/>
</concept>
<concept>
<code value="1581"/>
<display value="Non-distal deletion 10q syndrome"/>
</concept>
<concept>
<code value="158668"/>
<display value="Ectodermal dysplasia-skin fragility syndrome"/>
</concept>
<concept>
<code value="158673"/>
<display
value="Localized dystrophic epidermolysis bullosa, acral form"/>
</concept>
<concept>
<code value="158676"/>
<display
value="Localized dystrophic epidermolysis bullosa, nails only"/>
</concept>
<concept>
<code value="158681"/>
<display
value="Epidermolysis bullosa simplex with circinate migratory erythema"/>
</concept>
<concept>
<code value="158684"/>
<display value="Epidermolysis bullosa simplex with pyloric atresia"/>
</concept>
<concept>
<code value="158687"/>
<display value="Lethal acantholytic erosive disorder"/>
</concept>
<concept>
<code value="1587"/>
<display value="Monosomy 13q14 syndrome"/>
</concept>
<concept>
<code value="158766"/>
<display value="Typical urticaria pigmentosa"/>
</concept>
<concept>
<code value="158769"/>
<display value="Plaque-form urticaria pigmentosa"/>
</concept>
<concept>
<code value="158772"/>
<display value="Nodular urticaria pigmentosa"/>
</concept>
<concept>
<code value="158775"/>
<display value="Smoldering systemic mastocytosis"/>
</concept>
<concept>
<code value="158778"/>
<display value="Isolated bone marrow mastocytosis"/>
</concept>
<concept>
<code value="159"/>
<display value="Carnitine-acylcarnitine translocase deficiency"/>
</concept>
<concept>
<code value="1590"/>
<display value="Distal deletion 13q syndrome"/>
</concept>
<concept>
<code value="1596"/>
<display value="Distal deletion 15q syndrome"/>
</concept>
<concept>
<code value="1597"/>
<display value="Distal deletion 17q syndrome"/>
</concept>
<concept>
<code value="1598"/>
<display value="Monosomy 18p syndrome"/>
</concept>
<concept>
<code value="16"/>
<display value="Blue cone monochromatism"/>
</concept>
<concept>
<code value="160"/>
<display value="Castleman disease"/>
</concept>
<concept>
<code value="1600"/>
<display value="Monosomy 18q syndrome"/>
</concept>
<concept>
<code value="160148"/>
<display value="Cap polyposis"/>
</concept>
<concept>
<code value="1606"/>
<display value="1p36 deletion syndrome"/>
</concept>
<concept>
<code value="1617"/>
<display
value="Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion"/>
</concept>
<concept>
<code value="162"/>
<display
value="Congenital cataract-anterior segment dysgenesis syndrome"/>
</concept>
<concept>
<code value="1620"/>
<display value="Distal deletion 3p syndrome"/>
</concept>
<concept>
<code value="1621"/>
<display value="3q13 microdeletion syndrome"/>
</concept>
<concept>
<code value="162516"/>
<display
value="Isolated congenital nasal pyriform aperture stenosis"/>
</concept>
<concept>
<code value="162526"/>
<display value="Isolated congenital auditory ossicle malformation"/>
</concept>
<concept>
<code value="1627"/>
<display value="Deletion 5q35 syndrome"/>
</concept>
<concept>
<code value="163"/>
<display value="Hereditary hyperferritinemia-cataract syndrome"/>
</concept>
<concept>
<code value="163525"/>
<display value="Subacute cutaneous lupus erythematosus"/>
</concept>
<concept>
<code value="163596"/>
<display value="Hb Bart's hydrops fetalis"/>
</concept>
<concept>
<code value="1636"/>
<display value="Distal monosomy 7q36 syndrome"/>
</concept>
<concept>
<code value="163634"/>
<display value="Maffucci syndrome"/>
</concept>
<concept>
<code value="163649"/>
<display
value="Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome"/>
</concept>
<concept>
<code value="163654"/>
<display
value="Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome"/>
</concept>
<concept>
<code value="163662"/>
<display value="Spondyloepiphyseal dysplasia, Reardon type"/>
</concept>
<concept>
<code value="163665"/>
<display value="Spondyloepiphyseal dysplasia tarda, Kohn type"/>
</concept>
<concept>
<code value="163668"/>
<display value="Spondyloepiphyseal dysplasia, MacDermot type"/>
</concept>
<concept>
<code value="163681"/>
<display
value="CNTNAP2-related developmental and epileptic encephalopathy"/>
</concept>
<concept>
<code value="163684"/>
<display
value="Leukoencephalopathy-dystonia-motor neuropathy syndrome"/>
</concept>
<concept>
<code value="163690"/>
<display value="Hypotonia-cystinuria syndrome"/>
</concept>
<concept>
<code value="163693"/>
<display value="2p21 microdeletion syndrome"/>
</concept>
<concept>
<code value="163696"/>
<display value="Action myoclonus-renal failure syndrome"/>
</concept>
<concept>
<code value="163699"/>
<display value="Alveolar soft tissue sarcoma"/>
</concept>
<concept>
<code value="163703"/>
<display value="Febrile infection-related epilepsy syndrome"/>
</concept>
<concept>
<code value="163708"/>
<display value="Cryptogenic late-onset epileptic spasms"/>
</concept>
<concept>
<code value="163717"/>
<display value="Familial mesial temporal lobe epilepsy"/>
</concept>
<concept>
<code value="163721"/>
<display value="Rolandic epilepsy-speech dyspraxia syndrome"/>
</concept>
<concept>
<code value="163727"/>
<display
value="Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"/>
</concept>
<concept>
<code value="163746"/>
<display
value="Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"/>
</concept>
<concept>
<code value="163921"/>
<display value="Posttransplant acute limbic encephalitis"/>
</concept>
<concept>
<code value="163927"/>
<display value="Pustulosis palmaris et plantaris"/>
</concept>
<concept>
<code value="163931"/>
<display value="Acrodermatitis continua of Hallopeau"/>
</concept>
<concept>
<code value="163934"/>
<display value="Atopic keratoconjunctivitis"/>
</concept>
<concept>
<code value="163937"/>
<display value="X-linked intellectual disability, Najm type"/>
</concept>
<concept>
<code value="163956"/>
<display value="X-linked intellectual disability, Nascimento type"/>
</concept>
<concept>
<code value="163961"/>
<display value="X-linked cerebral-cerebellar-coloboma syndrome"/>
</concept>
<concept>
<code value="163966"/>
<display
value="X-linked dominant chondrodysplasia, Chassaing-Lacombe type"/>
</concept>
<concept>
<code value="163971"/>
<display value="X-linked intellectual disability, Cilliers type"/>
</concept>
<concept>
<code value="163976"/>
<display value="X-linked intellectual disability, Van Esch type"/>
</concept>
<concept>
<code value="163979"/>
<display
value="X-linked intellectual disability-craniofacioskeletal syndrome"/>
</concept>
<concept>
<code value="163985"/>
<display value="Hyperekplexia-epilepsy syndrome"/>
</concept>
<concept>
<code value="1642"/>
<display value="Distal deletion 9p syndrome"/>
</concept>
<concept>
<code value="1643"/>
<display value="Xp22.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="1646"/>
<display value="Chromosome Y microdeletion syndrome"/>
</concept>
<concept>
<code value="1647"/>
<display value="Oculocerebrocutaneous syndrome"/>
</concept>
<concept>
<code value="164726"/>
<display
value="Acute myeloid leukemia and myelodysplastic syndromes related to radiation"/>
</concept>
<concept>
<code value="164736"/>
<display value="Familial advanced sleep-phase syndrome"/>
</concept>
<concept>
<code value="1652"/>
<display value="Dent disease"/>
</concept>
<concept>
<code value="1653"/>
<display value="Dentin dysplasia"/>
</concept>
<concept>
<code value="1655"/>
<display
value="Müllerian derivatives-lymphangiectasia-polydactyly syndrome"/>
</concept>
<concept>
<code value="1656"/>
<display value="Dermatitis herpetiformis"/>
</concept>
<concept>
<code value="1657"/>
<display value="Dermatoosteolysis, Kirghizian type"/>
</concept>
<concept>
<code value="1658"/>
<display value="Absence of fingerprints-congenital milia syndrome"/>
</concept>
<concept>
<code value="1659"/>
<display value="Dermatoleukodystrophy"/>
</concept>
<concept>
<code value="165955"/>
<display value="Wound myiasis"/>
</concept>
<concept>
<code value="165958"/>
<display value="Cavitary myiasis"/>
</concept>
<concept>
<code value="165991"/>
<display value="Exercise-induced hyperinsulinism"/>
</concept>
<concept>
<code value="1660"/>
<display value="Dermoodontodysplasia"/>
</concept>
<concept>
<code value="166002"/>
<display
value="Multiple epiphyseal dysplasia due to collagen 9 anomaly"/>
</concept>
<concept>
<code value="166016"/>
<display value="Multiple epiphyseal dysplasia, Lowry type"/>
</concept>
<concept>
<code value="166024"/>
<display
value="Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="166029"/>
<display
value="Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome"/>
</concept>
<concept>
<code value="166032"/>
<display
value="Multiple epiphyseal dysplasia-miniepiphyses syndrome"/>
</concept>
<concept>
<code value="166035"/>
<display
value="Brachydactyly-short stature-retinitis pigmentosa syndrome"/>
</concept>
<concept>
<code value="166038"/>
<display value="Metaphyseal chondrodysplasia, Kaitila type"/>
</concept>
<concept>
<code value="166063"/>
<display value="Pontocerebellar hypoplasia type 4"/>
</concept>
<concept>
<code value="166073"/>
<display value="Pontocerebellar hypoplasia type 6"/>
</concept>
<concept>
<code value="166078"/>
<display value="Von Willebrand disease type 1"/>
</concept>
<concept>
<code value="166081"/>
<display value="Von Willebrand disease type 2"/>
</concept>
<concept>
<code value="166084"/>
<display value="Von Willebrand disease type 2A"/>
</concept>
<concept>
<code value="166087"/>
<display value="Von Willebrand disease type 2B"/>
</concept>
<concept>
<code value="166090"/>
<display value="Von Willebrand disease type 2M"/>
</concept>
<concept>
<code value="166093"/>
<display value="Von Willebrand disease type 2N"/>
</concept>
<concept>
<code value="166096"/>
<display value="Von Willebrand disease type 3"/>
</concept>
<concept>
<code value="1661"/>
<display value="X-linked corneal dermoid"/>
</concept>
<concept>
<code value="166100"/>
<display
value="Autosomal dominant otospondylomegaepiphyseal dysplasia"/>
</concept>
<concept>
<code value="166105"/>
<display
value="FASTKD2-related infantile mitochondrial encephalomyopathy"/>
</concept>
<concept>
<code value="166108"/>
<display value="Birk-Barel syndrome"/>
</concept>
<concept>
<code value="166113"/>
<display value="Bazex syndrome"/>
</concept>
<concept>
<code value="166119"/>
<display value="Isolated osteopoikilosis"/>
</concept>
<concept>
<code value="1662"/>
<display value="Restrictive dermopathy"/>
</concept>
<concept>
<code value="166260"/>
<display value="Dentinogenesis imperfecta type 2"/>
</concept>
<concept>
<code value="166265"/>
<display value="Dentinogenesis imperfecta type 3"/>
</concept>
<concept>
<code value="166272"/>
<display value="Odontochondrodysplasia"/>
</concept>
<concept>
<code value="166277"/>
<display
value="Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia"/>
</concept>
<concept>
<code value="166282"/>
<display value="Hereditary sick sinus syndrome"/>
</concept>
<concept>
<code value="166286"/>
<display value="Porokeratotic eccrine ostial and dermal duct nevus"/>
</concept>
<concept>
<code value="166291"/>
<display value="Dirofilariasis"/>
</concept>
<concept>
<code value="166308"/>
<display
value="Benign infantile focal epilepsy with midline spikes and waves during sleep"/>
</concept>
<concept>
<code value="166409"/>
<display value="Photosensitive occipital lobe epilepsy"/>
</concept>
<concept>
<code value="166412"/>
<display value="Hot water reflex epilepsy"/>
</concept>
<concept>
<code value="166415"/>
<display value="Audiogenic seizures"/>
</concept>
<concept>
<code value="166418"/>
<display value="Eating reflex epilepsy"/>
</concept>
<concept>
<code value="166421"/>
<display value="Orgasm-induced seizures"/>
</concept>
<concept>
<code value="166424"/>
<display value="Thinking seizures"/>
</concept>
<concept>
<code value="166427"/>
<display value="Startle epilepsy"/>
</concept>
<concept>
<code value="166430"/>
<display value="Micturation-induced seizures"/>
</concept>
<concept>
<code value="166433"/>
<display value="Epilepsy with reading-induced seizures"/>
</concept>
<concept>
<code value="1665"/>
<display value="Sporadic fetal brain disruption sequence"/>
</concept>
<concept>
<code value="1666"/>
<display value="Dextrocardia"/>
</concept>
<concept>
<code value="1667"/>
<display value="Wolcott-Rallison syndrome"/>
</concept>
<concept>
<code value="167"/>
<display value="Chédiak-Higashi syndrome"/>
</concept>
<concept>
<code value="1670"/>
<display value="Chronic diarrhea with villous atrophy"/>
</concept>
<concept>
<code value="1671"/>
<display value="Split cord malformation type I"/>
</concept>
<concept>
<code value="1672"/>
<display value="Diencephalic syndrome"/>
</concept>
<concept>
<code value="1675"/>
<display value="Dihydropyrimidine dehydrogenase deficiency"/>
</concept>
<concept>
<code value="1676"/>
<display value="Idiopathic pulmonary artery dilatation"/>
</concept>
<concept>
<code value="167635"/>
<display value="Scleromyxedema"/>
</concept>
<concept>
<code value="1677"/>
<display value="Familial idiopathic dilatation of the right atrium"/>
</concept>
<concept>
<code value="1679"/>
<display value="Diphtheria"/>
</concept>
<concept>
<code value="168"/>
<display value="Loose anagen syndrome"/>
</concept>
<concept>
<code value="1681"/>
<display value="Diprosopus"/>
</concept>
<concept>
<code value="1682"/>
<display value="Arterial dissection-lentiginosis syndrome"/>
</concept>
<concept>
<code value="168443"/>
<display
value="Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"/>
</concept>
<concept>
<code value="168451"/>
<display
value="Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome"/>
</concept>
<concept>
<code value="168454"/>
<display value="Spondyloepimetaphyseal dysplasia, Geneviève type"/>
</concept>
<concept>
<code value="168544"/>
<display value="Spondylometaphyseal dysplasia, Golden type"/>
</concept>
<concept>
<code value="168549"/>
<display value="Axial spondylometaphyseal dysplasia"/>
</concept>
<concept>
<code value="168552"/>
<display
value="Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="168555"/>
<display value="Spondylometaphyseal dysplasia, A4 type"/>
</concept>
<concept>
<code value="168558"/>
<display
value="46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency"/>
</concept>
<concept>
<code value="168563"/>
<display
value="46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"/>
</concept>
<concept>
<code value="168566"/>
<display
value="Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"/>
</concept>
<concept>
<code value="168569"/>
<display value="H syndrome"/>
</concept>
<concept>
<code value="168572"/>
<display value="Native American myopathy"/>
</concept>
<concept>
<code value="168577"/>
<display value="Hereditary cryohydrocytosis with reduced stomatin"/>
</concept>
<concept>
<code value="168583"/>
<display
value="Hereditary North American Indian childhood cirrhosis"/>
</concept>
<concept>
<code value="168588"/>
<display
value="Hyperandrogenism due to cortisone reductase deficiency"/>
</concept>
<concept>
<code value="168593"/>
<display
value="Sudden infant death-dysgenesis of the testes syndrome"/>
</concept>
<concept>
<code value="168598"/>
<display value="Methionine adenosyltransferase I/III deficiency"/>
</concept>
<concept>
<code value="1686"/>
<display value="Cardiac diverticulum"/>
</concept>
<concept>
<code value="168601"/>
<display
value="Congenital enteropathy due to enteropeptidase deficiency"/>
</concept>
<concept>
<code value="168606"/>
<display
value="Seborrhea-like dermatitis with psoriasiform elements"/>
</concept>
<concept>
<code value="168612"/>
<display value="Congenital deficiency in alpha-fetoprotein"/>
</concept>
<concept>
<code value="168615"/>
<display value="Hereditary persistence of alpha-fetoprotein"/>
</concept>
<concept>
<code value="168621"/>
<display value="Dysplasia of head of femur, Meyer type"/>
</concept>
<concept>
<code value="168624"/>
<display value="Familial scaphocephaly syndrome, McGillivray type"/>
</concept>
<concept>
<code value="168629"/>
<display value="Autosomal thrombocytopenia with normal platelets"/>
</concept>
<concept>
<code value="168632"/>
<display value="Generalized basaloid follicular hamartoma syndrome"/>
</concept>
<concept>
<code value="168782"/>
<display value="Childhood disintegrative disorder"/>
</concept>
<concept>
<code value="168796"/>
<display value="Heart-hand syndrome, Slovenian type"/>
</concept>
<concept>
<code value="168811"/>
<display value="Malignant peritoneal mesothelioma"/>
</concept>
<concept>
<code value="168816"/>
<display value="Peritoneal inclusion cyst"/>
</concept>
<concept>
<code value="168829"/>
<display value="Primary peritoneal carcinoma"/>
</concept>
<concept>
<code value="168940"/>
<display value="Chronic eosinophilic leukemia"/>
</concept>
<concept>
<code value="168947"/>
<display
value="Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"/>
</concept>
<concept>
<code value="168950"/>
<display
value="Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"/>
</concept>
<concept>
<code value="168953"/>
<display
value="Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement"/>
</concept>
<concept>
<code value="168960"/>
<display
value="Refractory anemia with excess blasts in transformation"/>
</concept>
<concept>
<code value="168966"/>
<display value="Composite lymphoma"/>
</concept>
<concept>
<code value="168984"/>
<display value="CLAPO syndrome"/>
</concept>
<concept>
<code value="168999"/>
<display value="Malignant melanoma of the mucosa"/>
</concept>
<concept>
<code value="169"/>
<display value="Ringed hair disease"/>
</concept>
<concept>
<code value="169079"/>
<display value="Cernunnos-XLF deficiency"/>
</concept>
<concept>
<code value="169082"/>
<display
value="Combined immunodeficiency due to CD3gamma deficiency"/>
</concept>
<concept>
<code value="169085"/>
<display
value="Susceptibility to respiratory infections associated with CD8alpha chain mutation"/>
</concept>
<concept>
<code value="169090"/>
<display
value="Combined immunodeficiency due to CRAC channel dysfunction"/>
</concept>
<concept>
<code value="169095"/>
<display
value="Severe combined immunodeficiency due to FOXN1 deficiency"/>
</concept>
<concept>
<code value="169100"/>
<display value="Immunodeficiency due to CD25 deficiency"/>
</concept>
<concept>
<code value="169105"/>
<display value="Good syndrome"/>
</concept>
<concept>
<code value="169110"/>
<display value="Immunoglobulin heavy chain deficiency"/>
</concept>
<concept>
<code value="169139"/>
<display value="Transient hypogammaglobulinemia of infancy"/>
</concept>
<concept>
<code value="169142"/>
<display
value="Recurrent infections due to specific granule deficiency"/>
</concept>
<concept>
<code value="169147"/>
<display
value="Immunodeficiency due to a classical component pathway complement deficiency"/>
</concept>
<concept>
<code value="169150"/>
<display
value="Immunodeficiency due to a late component of complement deficiency"/>
</concept>
<concept>
<code value="169154"/>
<display
value="T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"/>
</concept>
<concept>
<code value="169157"/>
<display
value="T-B+ severe combined immunodeficiency due to CD45 deficiency"/>
</concept>
<concept>
<code value="169160"/>
<display
value="T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"/>
</concept>
<concept>
<code value="169186"/>
<display value="Autosomal recessive centronuclear myopathy"/>
</concept>
<concept>
<code value="169189"/>
<display value="Autosomal dominant centronuclear myopathy"/>
</concept>
<concept>
<code value="1692"/>
<display value="Mosaic trisomy 1 syndrome"/>
</concept>
<concept>
<code value="169464"/>
<display value="Primary CD59 deficiency"/>
</concept>
<concept>
<code value="169467"/>
<display
value="Recurrent Neisseria infections due to factor D deficiency"/>
</concept>
<concept>
<code value="1695"/>
<display value="Non-distal duplication 10q syndrome"/>
</concept>
<concept>
<code value="169793"/>
<display value="Severe hemophilia B"/>
</concept>
<concept>
<code value="169796"/>
<display value="Moderate hemophilia B"/>
</concept>
<concept>
<code value="169799"/>
<display value="Mild hemophilia B"/>
</concept>
<concept>
<code value="1698"/>
<display value="Mosaic trisomy 12 syndrome"/>
</concept>
<concept>
<code value="169802"/>
<display value="Severe hemophilia A"/>
</concept>
<concept>
<code value="169805"/>
<display value="Moderate hemophilia A"/>
</concept>
<concept>
<code value="169808"/>
<display value="Mild hemophilia A"/>
</concept>
<concept>
<code value="1699"/>
<display value="Trisomy 12p syndrome"/>
</concept>
<concept>
<code value="17"/>
<display
value="Fatal infantile lactic acidosis with methylmalonic aciduria"/>
</concept>
<concept>
<code value="170"/>
<display value="Woolly hair"/>
</concept>
<concept>
<code value="1702"/>
<display value="Non-distal duplication 13q syndrome"/>
</concept>
<concept>
<code value="1703"/>
<display value="Mosaic trisomy 14 syndrome"/>
</concept>
<concept>
<code value="1705"/>
<display value="Distal duplication 14q syndrome"/>
</concept>
<concept>
<code value="1706"/>
<display value="Mosaic trisomy 15 syndrome"/>
</concept>
<concept>
<code value="1707"/>
<display value="Distal duplication 15q syndrome"/>
</concept>
<concept>
<code value="1708"/>
<display value="Mosaic trisomy 16 syndrome"/>
</concept>
<concept>
<code value="171"/>
<display value="Primary sclerosing cholangitis"/>
</concept>
<concept>
<code value="1711"/>
<display value="Mosaic trisomy 17 syndrome"/>
</concept>
<concept>
<code value="171220"/>
<display value="Isolated rectal duplication"/>
</concept>
<concept>
<code value="1713"/>
<display value="17p11.2 microduplication syndrome"/>
</concept>
<concept>
<code value="171430"/>
<display value="Severe congenital nemaline myopathy"/>
</concept>
<concept>
<code value="171433"/>
<display value="Intermediate nemaline myopathy"/>
</concept>
<concept>
<code value="171436"/>
<display value="Typical nemaline myopathy"/>
</concept>
<concept>
<code value="171439"/>
<display value="Childhood-onset nemaline myopathy"/>
</concept>
<concept>
<code value="171442"/>
<display value="Adult-onset nemaline myopathy"/>
</concept>
<concept>
<code value="171445"/>
<display value="Muscle filaminopathy"/>
</concept>
<concept>
<code value="1715"/>
<display value="Trisomy 18p syndrome"/>
</concept>
<concept>
<code value="1716"/>
<display value="Distal duplication 18q syndrome"/>
</concept>
<concept>
<code value="171607"/>
<display value="X-linked spastic paraplegia type 34"/>
</concept>
<concept>
<code value="171612"/>
<display value="Autosomal dominant spastic paraplegia type 37"/>
</concept>
<concept>
<code value="171617"/>
<display value="Autosomal dominant spastic paraplegia type 38"/>
</concept>
<concept>
<code value="171622"/>
<display value="Autosomal recessive spastic paraplegia type 32"/>
</concept>
<concept>
<code value="171629"/>
<display value="Autosomal recessive spastic paraplegia type 35"/>
</concept>
<concept>
<code value="171673"/>
<display value="Limbal stem cell deficiency"/>
</concept>
<concept>
<code value="171680"/>
<display value="Lissencephaly due to TUBA1A mutation"/>
</concept>
<concept>
<code value="171684"/>
<display value="Idiopathic bilateral vestibulopathy"/>
</concept>
<concept>
<code value="171690"/>
<display
value="Metabolic myopathy due to lactate transporter defect"/>
</concept>
<concept>
<code value="171695"/>
<display value="Parkinsonian-pyramidal syndrome"/>
</concept>
<concept>
<code value="1717"/>
<display value="Distal duplication 19q syndrome"/>
</concept>
<concept>
<code value="171700"/>
<display value="Diffuse panbronchiolitis"/>
</concept>
<concept>
<code value="171703"/>
<display
value="Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"/>
</concept>
<concept>
<code value="171706"/>
<display
value="Short stature-delayed bone age due to thyroid hormone metabolism deficiency"/>
</concept>
<concept>
<code value="171709"/>
<display value="Male infertility due to globozoospermia"/>
</concept>
<concept>
<code value="171719"/>
<display value="Cutis laxa-Marfanoid syndrome"/>
</concept>
<concept>
<code value="171723"/>
<display value="White sponge nevus"/>
</concept>
<concept>
<code value="171829"/>
<display value="6q16 microdeletion syndrome"/>
</concept>
<concept>
<code value="171839"/>
<display
value="Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome"/>
</concept>
<concept>
<code value="171844"/>
<display value="Blindness-scoliosis-arachnodactyly syndrome"/>
</concept>
<concept>
<code value="171848"/>
<display
value="Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"/>
</concept>
<concept>
<code value="171851"/>
<display value="MEDNIK syndrome"/>
</concept>
<concept>
<code value="171863"/>
<display value="Autosomal dominant spastic paraplegia type 42"/>
</concept>
<concept>
<code value="171866"/>
<display value="Spondyloepimetaphyseal dysplasia, aggrecan type"/>
</concept>
<concept>
<code value="171871"/>
<display value="Renal pseudohypoaldosteronism type 1"/>
</concept>
<concept>
<code value="171876"/>
<display value="Generalized pseudohypoaldosteronism type 1"/>
</concept>
<concept>
<code value="171881"/>
<display value="Cap myopathy"/>
</concept>
<concept>
<code value="171886"/>
<display value="Cylindrical spirals myopathy"/>
</concept>
<concept>
<code value="171889"/>
<display
value="Myopathy with hexagonally cross-linked tubular arrays"/>
</concept>
<concept>
<code value="171929"/>
<display value="Trisomy 10p syndrome"/>
</concept>
<concept>
<code value="172"/>
<display value="Progressive familial intrahepatic cholestasis"/>
</concept>
<concept>
<code value="1723"/>
<display value="Mosaic trisomy 2 syndrome"/>
</concept>
<concept>
<code value="1724"/>
<display value="Mosaic trisomy 20 syndrome"/>
</concept>
<concept>
<code value="1727"/>
<display value="22q11.2 duplication syndrome"/>
</concept>
<concept>
<code value="173"/>
<display value="Cholera"/>
</concept>
<concept>
<code value="1738"/>
<display value="Trisomy 4p syndrome"/>
</concept>
<concept>
<code value="174"/>
<display value="Metaphyseal chondrodysplasia, Schmid type"/>
</concept>
<concept>
<code value="1742"/>
<display value="Trisomy 5p syndrome"/>
</concept>
<concept>
<code value="1745"/>
<display value="Distal duplication 6p syndrome"/>
</concept>
<concept>
<code value="1747"/>
<display value="Mosaic trisomy 7 syndrome"/>
</concept>
<concept>
<code value="175"/>
<display value="Cartilage-hair hypoplasia"/>
</concept>
<concept>
<code value="1752"/>
<display value="Trisomy 8q syndrome"/>
</concept>
<concept>
<code value="1756"/>
<display value="Caudal duplication"/>
</concept>
<concept>
<code value="1757"/>
<display value="Fibular dimelia-diplopodia syndrome"/>
</concept>
<concept>
<code value="1759"/>
<display value="Thoraco-abdominal enteric duplication"/>
</concept>
<concept>
<code value="1762"/>
<display value="Proximal Xq28 duplication syndrome"/>
</concept>
<concept>
<code value="1764"/>
<display value="Familial dysautonomia"/>
</concept>
<concept>
<code value="1766"/>
<display value="Dysequilibrium syndrome"/>
</concept>
<concept>
<code value="1768"/>
<display value="Familial caudal dysgenesis"/>
</concept>
<concept>
<code value="177"/>
<display value="Rhizomelic chondrodysplasia punctata"/>
</concept>
<concept>
<code value="1770"/>
<display
value="XY type gonadal dysgenesis-associated anomalies syndrome"/>
</concept>
<concept>
<code value="1772"/>
<display value="45,X/46,XY mixed gonadal dysgenesis"/>
</concept>
<concept>
<code value="1775"/>
<display value="Dyskeratosis congenita"/>
</concept>
<concept>
<code value="1777"/>
<display value="Temtamy syndrome"/>
</concept>
<concept>
<code value="1778"/>
<display
value="Facial dysmorphism-shawl scrotum-joint laxity syndrome"/>
</concept>
<concept>
<code value="1779"/>
<display value="Dysmorphism-cleft palate-loose skin syndrome"/>
</concept>
<concept>
<code value="177901"/>
<display
value="Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"/>
</concept>
<concept>
<code value="177904"/>
<display
value="Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"/>
</concept>
<concept>
<code value="177907"/>
<display value="Prader-Willi syndrome due to translocation"/>
</concept>
<concept>
<code value="177910"/>
<display value="Prader-Willi syndrome due to imprinting mutation"/>
</concept>
<concept>
<code value="177926"/>
<display value="Bleeding disorder in hemophilia A carriers"/>
</concept>
<concept>
<code value="177929"/>
<display value="Bleeding disorder in hemophilia B carriers"/>
</concept>
<concept>
<code value="178"/>
<display value="Chordoma"/>
</concept>
<concept>
<code value="1780"/>
<display value="Thakker-Donnai syndrome"/>
</concept>
<concept>
<code value="178029"/>
<display value="Arginine vasopressin deficiency"/>
</concept>
<concept>
<code value="178145"/>
<display
value="Moderate multiminicore disease with hand involvement"/>
</concept>
<concept>
<code value="178148"/>
<display
value="Antenatal multiminicore disease with arthrogryposis multiplex congenita"/>
</concept>
<concept>
<code value="1782"/>
<display value="Dysosteosclerosis"/>
</concept>
<concept>
<code value="178303"/>
<display value="8q22.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="178307"/>
<display value="Reticulate acropigmentation of Kitamura"/>
</concept>
<concept>
<code value="178311"/>
<display value="Isolated sternocostoclavicular hyperostosis"/>
</concept>
<concept>
<code value="178315"/>
<display value="Undifferentiated embryonal sarcoma of the liver"/>
</concept>
<concept>
<code value="178320"/>
<display value="Acute lung injury"/>
</concept>
<concept>
<code value="178333"/>
<display value="Åland Islands eye disease"/>
</concept>
<concept>
<code value="178338"/>
<display value="UV-sensitive syndrome"/>
</concept>
<concept>
<code value="178342"/>
<display value="Inflammatory myofibroblastic tumor"/>
</concept>
<concept>
<code value="178345"/>
<display value="Aromatase excess syndrome"/>
</concept>
<concept>
<code value="178355"/>
<display value="Smith-McCort dysplasia"/>
</concept>
<concept>
<code value="178364"/>
<display value="Syndromic microphthalmia type 5"/>
</concept>
<concept>
<code value="178377"/>
<display
value="Osteosclerosis-developmental delay-craniosynostosis syndrome"/>
</concept>
<concept>
<code value="178382"/>
<display value="Congenital vertical talus"/>
</concept>
<concept>
<code value="178389"/>
<display value="Osteopetrosis-hypogammaglobulinemia syndrome"/>
</concept>
<concept>
<code value="178396"/>
<display
value="Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"/>
</concept>
<concept>
<code value="1784"/>
<display value="Acrofrontofacionasal dysostosis"/>
</concept>
<concept>
<code value="178400"/>
<display value="Distal myopathy with anterior tibial onset"/>
</concept>
<concept>
<code value="178461"/>
<display value="X-linked myopathy with postural muscle atrophy"/>
</concept>
<concept>
<code value="178464"/>
<display value="Hereditary myopathy with early respiratory failure"/>
</concept>
<concept>
<code value="178469"/>
<display
value="Autosomal dominant non-syndromic intellectual disability"/>
</concept>
<concept>
<code value="178475"/>
<display value="Wound botulism"/>
</concept>
<concept>
<code value="178478"/>
<display value="Infant botulism"/>
</concept>
<concept>
<code value="178481"/>
<display value="Intestinal botulism"/>
</concept>
<concept>
<code value="178487"/>
<display value="Adult intestinal botulism"/>
</concept>
<concept>
<code value="178506"/>
<display value="Brain calcification, Rajab type"/>
</concept>
<concept>
<code value="178509"/>
<display value="Perry syndrome"/>
</concept>
<concept>
<code value="178512"/>
<display value="Folliculotropic mycosis fungoides"/>
</concept>
<concept>
<code value="178517"/>
<display value="Localized pagetoid reticulosis"/>
</concept>
<concept>
<code value="178522"/>
<display
value="Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"/>
</concept>
<concept>
<code value="178528"/>
<display
value="Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma"/>
</concept>
<concept>
<code value="178533"/>
<display
value="Primary cutaneous gamma/delta-positive T-cell lymphoma"/>
</concept>
<concept>
<code value="178536"/>
<display value="Primary cutaneous marginal zone B-cell lymphoma"/>
</concept>
<concept>
<code value="178540"/>
<display value="Primary cutaneous follicle center lymphoma"/>
</concept>
<concept>
<code value="178544"/>
<display
value="Primary cutaneous diffuse large B-cell lymphoma, leg type"/>
</concept>
<concept>
<code value="1786"/>
<display value="Acrofacial dysostosis, Catania type"/>
</concept>
<concept>
<code value="1787"/>
<display value="Acrofacial dysostosis, Palagonia type"/>
</concept>
<concept>
<code value="1788"/>
<display value="Acrofacial dysostosis, Rodríguez type"/>
</concept>
<concept>
<code value="179"/>
<display value="Birdshot chorioretinopathy"/>
</concept>
<concept>
<code value="1790"/>
<display value="Hypomandibular faciocranial dysostosis"/>
</concept>
<concept>
<code value="1791"/>
<display value="Frontofacionasal dysplasia"/>
</concept>
<concept>
<code value="1794"/>
<display value="Oculomaxillofacial dysostosis"/>
</concept>
<concept>
<code value="179490"/>
<display value="Obesity due to congenital leptin resistance"/>
</concept>
<concept>
<code value="179494"/>
<display value="Obesity due to leptin receptor gene deficiency"/>
</concept>
<concept>
<code value="1797"/>
<display value="Autosomal dominant spondylocostal dysostosis"/>
</concept>
<concept>
<code value="1798"/>
<display
value="Craniofacial dysostosis-diaphyseal hyperplasia syndrome"/>
</concept>
<concept>
<code value="1799"/>
<display value="Familial developmental dysphasia"/>
</concept>
<concept>
<code value="18"/>
<display value="Distal renal tubular acidosis"/>
</concept>
<concept>
<code value="180"/>
<display value="Choroideremia"/>
</concept>
<concept>
<code value="180074"/>
<display value="True unicornuate uterus"/>
</concept>
<concept>
<code value="180079"/>
<display value="Pseudounicornuate uterus"/>
</concept>
<concept>
<code value="180086"/>
<display value="Didelphys uterus"/>
</concept>
<concept>
<code value="1801"/>
<display value="Kyphomelic dysplasia"/>
</concept>
<concept>
<code value="180106"/>
<display value="Bicervical bicornuate uterus and blind hemivagina"/>
</concept>
<concept>
<code value="180111"/>
<display
value="Bicervical bicornuate uterus with patent cervix and vagina"/>
</concept>
<concept>
<code value="180114"/>
<display value="Unicervical bicornuate uterus"/>
</concept>
<concept>
<code value="180126"/>
<display value="Complete septate uterus"/>
</concept>
<concept>
<code value="180129"/>
<display value="Partial septate uterus"/>
</concept>
<concept>
<code value="180139"/>
<display value="Uterine hypoplasia"/>
</concept>
<concept>
<code value="180142"/>
<display value="Absence of uterine body"/>
</concept>
<concept>
<code value="180145"/>
<display value="Uterine cervical aplasia and agenesis"/>
</concept>
<concept>
<code value="180154"/>
<display value="Septate vagina"/>
</concept>
<concept>
<code value="180157"/>
<display value="Longitudinal vaginal septum"/>
</concept>
<concept>
<code value="180160"/>
<display value="Transverse vaginal septum"/>
</concept>
<concept>
<code value="180176"/>
<display value="Familial juvenile hypertrophy of the breast"/>
</concept>
<concept>
<code value="180182"/>
<display value="Supernumerary breasts"/>
</concept>
<concept>
<code value="180188"/>
<display value="Isolated congenital breast hypoplasia/aplasia"/>
</concept>
<concept>
<code value="1802"/>
<display value="Ghosal hematodiaphyseal dysplasia"/>
</concept>
<concept>
<code value="180226"/>
<display value="Embryonal carcinoma"/>
</concept>
<concept>
<code value="180229"/>
<display value="Polyembryoma"/>
</concept>
<concept>
<code value="180234"/>
<display value="Mixed germ cell tumor"/>
</concept>
<concept>
<code value="180237"/>
<display value="Benign tumor of fallopian tubes"/>
</concept>
<concept>
<code value="180242"/>
<display value="Malignant tumor of fallopian tubes"/>
</concept>
<concept>
<code value="180247"/>
<display value="Vaginal carcinoma"/>
</concept>
<concept>
<code value="180261"/>
<display value="Phyllodes tumor of the breast"/>
</concept>
<concept>
<code value="180267"/>
<display value="Giant adenofibroma of the breast"/>
</concept>
<concept>
<code value="180275"/>
<display value="Paget disease of the nipple"/>
</concept>
<concept>
<code value="1803"/>
<display value="Thoracomelic dysplasia"/>
</concept>
<concept>
<code value="1806"/>
<display value="Ectodermal dysplasia-blindness syndrome"/>
</concept>
<concept>
<code value="1807"/>
<display value="Focal facial dermal dysplasia type III"/>
</concept>
<concept>
<code value="1808"/>
<display
value="Hidrotic ectodermal dysplasia, Christianson-Fourie type"/>
</concept>
<concept>
<code value="1809"/>
<display value="Hidrotic ectodermal dysplasia, Halal type"/>
</concept>
<concept>
<code value="181"/>
<display value="X-linked hypohidrotic ectodermal dysplasia"/>
</concept>
<concept>
<code value="1810"/>
<display
value="Autosomal dominant hypohidrotic ectodermal dysplasia"/>
</concept>
<concept>
<code value="1811"/>
<display value="Odontomicronychial dysplasia"/>
</concept>
<concept>
<code value="1812"/>
<display
value="Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"/>
</concept>
<concept>
<code value="181428"/>
<display value="Familial Hyperalphalipoproteinemia"/>
</concept>
<concept>
<code value="1816"/>
<display
value="Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"/>
</concept>
<concept>
<code value="1818"/>
<display value="Ectodermal dysplasia, trichoodontoonychial type"/>
</concept>
<concept>
<code value="182"/>
<display value="Chromomycosis"/>
</concept>
<concept>
<code value="182050"/>
<display value="MYH9-related syndromic thrombocytopenia"/>
</concept>
<concept>
<code value="182127"/>
<display value="Extragonadal germinoma"/>
</concept>
<concept>
<code value="1822"/>
<display value="Dysplasia epiphysealis hemimelica"/>
</concept>
<concept>
<code value="1824"/>
<display value="Lowry-Wood syndrome"/>
</concept>
<concept>
<code value="1825"/>
<display
value="Epiphyseal dysplasia-hearing loss-dysmorphism syndrome"/>
</concept>
<concept>
<code value="1826"/>
<display value="Frontometaphyseal dysplasia"/>
</concept>
<concept>
<code value="1827"/>
<display value="Acromelic frontonasal dysplasia"/>
</concept>
<concept>
<code value="183"/>
<display value="Eosinophilic granulomatosis with polyangiitis"/>
</concept>
<concept>
<code value="1830"/>
<display value="Schimke immuno-osseous dysplasia"/>
</concept>
<concept>
<code value="1832"/>
<display value="Osteosclerotic bone dysplasia"/>
</concept>
<concept>
<code value="1834"/>
<display value="Axial mesodermal dysplasia spectrum"/>
</concept>
<concept>
<code value="1836"/>
<display value="Mesomelic dysplasia, Kantaputra type"/>
</concept>
<concept>
<code value="183663"/>
<display
value="Hyper-IgM syndrome with susceptibility to opportunistic infections"/>
</concept>
<concept>
<code value="183666"/>
<display
value="Hyper-IgM syndrome without susceptibility to opportunistic infections"/>
</concept>
<concept>
<code value="183675"/>
<display
value="Recurrent infections associated with rare immunoglobulin isotypes deficiency"/>
</concept>
<concept>
<code value="183678"/>
<display value="Hermansky-Pudlak syndrome due to AP-3 deficiency"/>
</concept>
<concept>
<code value="1837"/>
<display value="Metaphyseal chondrodysplasia, Rosenberg type"/>
</concept>
<concept>
<code value="183707"/>
<display value="Infantile LAD-like disease due to RAC2 deficiency"/>
</concept>
<concept>
<code value="1839"/>
<display value="Hereditary mucoepithelial dysplasia"/>
</concept>
<concept>
<code value="184"/>
<display value="Cherubism"/>
</concept>
<concept>
<code value="1842"/>
<display value="Bone dysplasia, lethal Holmgren type"/>
</concept>
<concept>
<code value="1848"/>
<display value="Renal agenesis, bilateral"/>
</concept>
<concept>
<code value="185"/>
<display value="Scimitar syndrome"/>
</concept>
<concept>
<code value="1851"/>
<display value="Multicystic dysplastic kidney"/>
</concept>
<concept>
<code value="1852"/>
<display value="X-linked retinal dysplasia"/>
</concept>
<concept>
<code value="1855"/>
<display value="Spondyloenchondrodysplasia"/>
</concept>
<concept>
<code value="1856"/>
<display value="Spondyloperipheral dysplasia-short ulna syndrome"/>
</concept>
<concept>
<code value="1858"/>
<display value="Skeletal dysplasia-epilepsy-short stature syndrome"/>
</concept>
<concept>
<code value="186"/>
<display value="Primary biliary cholangitis"/>
</concept>
<concept>
<code value="1860"/>
<display value="Thanatophoric dysplasia type 1"/>
</concept>
<concept>
<code value="1861"/>
<display value="Thoracic dysplasia-hydrocephalus syndrome"/>
</concept>
<concept>
<code value="1865"/>
<display value="Dyssegmental dysplasia, Silverman-Handmaker type"/>
</concept>
<concept>
<code value="1867"/>
<display value="Hereditary bullous dystrophy, macular type"/>
</concept>
<concept>
<code value="1871"/>
<display value="Progressive cone dystrophy"/>
</concept>
<concept>
<code value="1872"/>
<display value="Cone rod dystrophy"/>
</concept>
<concept>
<code value="1873"/>
<display value="Jalili syndrome"/>
</concept>
<concept>
<code value="1875"/>
<display
value="Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome"/>
</concept>
<concept>
<code value="1876"/>
<display value="Oculogastrointestinal muscular dystrophy"/>
</concept>
<concept>
<code value="1878"/>
<display value="TRIM32-related limb-girdle muscular dystrophy R8"/>
</concept>
<concept>
<code value="1879"/>
<display value="Melorheostosis with osteopoikilosis"/>
</concept>
<concept>
<code value="188"/>
<display value="Systemic capillary leak syndrome"/>
</concept>
<concept>
<code value="1880"/>
<display value="Ebstein malformation of the tricuspid valve"/>
</concept>
<concept>
<code value="1882"/>
<display
value="Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"/>
</concept>
<concept>
<code value="1883"/>
<display
value="Ectodermal dysplasia-sensorineural deafness syndrome"/>
</concept>
<concept>
<code value="1884"/>
<display
value="Ectopia lentis-chorioretinal dystrophy-myopia syndrome"/>
</concept>
<concept>
<code value="1885"/>
<display value="Isolated ectopia lentis"/>
</concept>
<concept>
<code value="189"/>
<display value="Hidrotic ectodermal dysplasia"/>
</concept>
<concept>
<code value="1891"/>
<display
value="Intellectual disability-spasticity-ectrodactyly syndrome"/>
</concept>
<concept>
<code value="1892"/>
<display value="Ectrodactyly-polydactyly syndrome"/>
</concept>
<concept>
<code value="189427"/>
<display
value="Cushing syndrome due to bilateral macronodular adrenocortical disease"/>
</concept>
<concept>
<code value="189466"/>
<display
value="Familial isolated hypoparathyroidism due to impaired PTH secretion"/>
</concept>
<concept>
<code value="1895"/>
<display value="Edinburgh malformation syndrome"/>
</concept>
<concept>
<code value="1896"/>
<display value="EEC syndrome"/>
</concept>
<concept>
<code value="1897"/>
<display value="EEM syndrome"/>
</concept>
<concept>
<code value="1899"/>
<display value="Arthrochalasia Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="190"/>
<display value="Coats disease"/>
</concept>
<concept>
<code value="1900"/>
<display
value="Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency"/>
</concept>
<concept>
<code value="1901"/>
<display value="Dermatosparaxis Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="1902"/>
<display value="Ehrlichiosis"/>
</concept>
<concept>
<code value="1906"/>
<display value="Fetal valproate spectrum disorder"/>
</concept>
<concept>
<code value="1908"/>
<display value="Aminopterin/methotrexate embryofetopathy"/>
</concept>
<concept>
<code value="1909"/>
<display value="Indomethacin embryofetopathy"/>
</concept>
<concept>
<code value="191"/>
<display value="Cockayne syndrome"/>
</concept>
<concept>
<code value="1910"/>
<display value="Fetal iodine syndrome"/>
</concept>
<concept>
<code value="1911"/>
<display value="Cocaine embryofetopathy"/>
</concept>
<concept>
<code value="1912"/>
<display value="Fetal hydantoin syndrome"/>
</concept>
<concept>
<code value="1913"/>
<display value="Fetal trimethadione syndrome"/>
</concept>
<concept>
<code value="1914"/>
<display value="Vitamin K antagonist embryofetopathy"/>
</concept>
<concept>
<code value="1915"/>
<display value="Fetal alcohol syndrome"/>
</concept>
<concept>
<code value="1916"/>
<display value="Diethylstilbestrol syndrome"/>
</concept>
<concept>
<code value="1917"/>
<display value="Fetal methylmercury syndrome"/>
</concept>
<concept>
<code value="1918"/>
<display value="Fetal minoxidil syndrome"/>
</concept>
<concept>
<code value="1919"/>
<display value="Phenobarbital embryopathy"/>
</concept>
<concept>
<code value="192"/>
<display value="Coffin-Lowry syndrome"/>
</concept>
<concept>
<code value="1920"/>
<display value="Toluene embryopathy"/>
</concept>
<concept>
<code value="1923"/>
<display value="Methimazole embryofetopathy"/>
</concept>
<concept>
<code value="1926"/>
<display value="Diabetic embryopathy"/>
</concept>
<concept>
<code value="1927"/>
<display value="Emery-Nelson syndrome"/>
</concept>
<concept>
<code value="1928"/>
<display value="Congenital lobar emphysema"/>
</concept>
<concept>
<code value="1929"/>
<display value="Rasmussen subacute encephalitis"/>
</concept>
<concept>
<code value="193"/>
<display value="Cohen syndrome"/>
</concept>
<concept>
<code value="1930"/>
<display value="Herpes simplex virus encephalitis"/>
</concept>
<concept>
<code value="1931"/>
<display value="Frontal encephalocele"/>
</concept>
<concept>
<code value="1933"/>
<display
value="Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"/>
</concept>
<concept>
<code value="1934"/>
<display
value="Early infantile developmental and epileptic encephalopathy"/>
</concept>
<concept>
<code value="1937"/>
<display value="Eng-Strom syndrome"/>
</concept>
<concept>
<code value="1941"/>
<display value="Juvenile absence epilepsy"/>
</concept>
<concept>
<code value="1942"/>
<display value="Epilepsy with myoclonic-atonic seizures"/>
</concept>
<concept>
<code value="1943"/>
<display
value="Early-onset progressive encephalopathy with migrant continuous myoclonus"/>
</concept>
<concept>
<code value="1945"/>
<display value="Self-limited epilepsy with centrotemporal spikes"/>
</concept>
<concept>
<code value="1946"/>
<display value="Amelocerebrohypohidrotic syndrome"/>
</concept>
<concept>
<code value="1947"/>
<display value="Northern epilepsy"/>
</concept>
<concept>
<code value="1948"/>
<display value="Epilepsy-microcephaly-skeletal dysplasia syndrome"/>
</concept>
<concept>
<code value="1949"/>
<display value="Self-limited neonatal epilepsy"/>
</concept>
<concept>
<code value="195"/>
<display value="Cat-eye syndrome"/>
</concept>
<concept>
<code value="1951"/>
<display value="Epilepsy-telangiectasia syndrome"/>
</concept>
<concept>
<code value="1952"/>
<display
value="Epiphyseal stippling-osteoclastic hyperplasia syndrome"/>
</concept>
<concept>
<code value="1954"/>
<display value="Congenital lethal erythroderma"/>
</concept>
<concept>
<code value="1955"/>
<display value="Spinocerebellar ataxia type 34"/>
</concept>
<concept>
<code value="1957"/>
<display value="Esthesioneuroblastoma"/>
</concept>
<concept>
<code value="1959"/>
<display value="Evans syndrome"/>
</concept>
<concept>
<code value="1962"/>
<display value="Exostoses-anetodermia-brachydactyly type E syndrome"/>
</concept>
<concept>
<code value="1964"/>
<display
value="Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome"/>
</concept>
<concept>
<code value="1968"/>
<display value="Flat face-microstomia-ear anomaly syndrome"/>
</concept>
<concept>
<code value="1969"/>
<display
value="Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome"/>
</concept>
<concept>
<code value="1970"/>
<display
value="Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"/>
</concept>
<concept>
<code value="1972"/>
<display value="Lethal faciocardiomelic dysplasia"/>
</concept>
<concept>
<code value="1973"/>
<display value="Faciocardiorenal syndrome"/>
</concept>
<concept>
<code value="1974"/>
<display value="Autosomal recessive faciodigitogenital syndrome"/>
</concept>
<concept>
<code value="1979"/>
<display
value="Lipodystrophy due to peptidic growth factors deficiency"/>
</concept>
<concept>
<code value="198"/>
<display value="Occipital horn syndrome"/>
</concept>
<concept>
<code value="1980"/>
<display value="Bilateral striopallidodentate calcinosis"/>
</concept>
<concept>
<code value="1986"/>
<display value="Gollop-Wolfgang complex"/>
</concept>
<concept>
<code value="1987"/>
<display value="Isolated femoral agenesis/hypoplasia"/>
</concept>
<concept>
<code value="1988"/>
<display value="Femoral-facial syndrome"/>
</concept>
<concept>
<code value="199"/>
<display value="Cornelia de Lange syndrome"/>
</concept>
<concept>
<code value="199241"/>
<display value="Pulmonary capillary hemangiomatosis"/>
</concept>
<concept>
<code value="199244"/>
<display value="Nelson syndrome"/>
</concept>
<concept>
<code value="199247"/>
<display value="Corticosteroid-binding globulin deficiency"/>
</concept>
<concept>
<code value="199251"/>
<display value="Ledderhose disease"/>
</concept>
<concept>
<code value="199260"/>
<display value="Calcifying aponeurotic fibroma"/>
</concept>
<concept>
<code value="199267"/>
<display value="Infantile digital fibromatosis"/>
</concept>
<concept>
<code value="199276"/>
<display value="Familial multiple lipomatosis"/>
</concept>
<concept>
<code value="199279"/>
<display value="Familial angiolipomatosis"/>
</concept>
<concept>
<code value="199282"/>
<display value="Harlequin syndrome"/>
</concept>
<concept>
<code value="199285"/>
<display
value="Hereditary hypercarotenemia and vitamin A deficiency"/>
</concept>
<concept>
<code value="199293"/>
<display value="Congenital microgastria"/>
</concept>
<concept>
<code value="199296"/>
<display value="Congenital isolated ACTH deficiency"/>
</concept>
<concept>
<code value="199299"/>
<display value="Late-onset isolated ACTH deficiency"/>
</concept>
<concept>
<code value="1993"/>
<display value="Pai syndrome"/>
</concept>
<concept>
<code value="199302"/>
<display value="Isolated cleft lip"/>
</concept>
<concept>
<code value="199306"/>
<display value="Cleft lip/palate"/>
</concept>
<concept>
<code value="199310"/>
<display value="Tetragametic chimerism syndrome"/>
</concept>
<concept>
<code value="199315"/>
<display
value="Familial clubfoot with or without associated lower limb anomalies"/>
</concept>
<concept>
<code value="199318"/>
<display value="15q13.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="199323"/>
<display value="Endophthalmitis"/>
</concept>
<concept>
<code value="199326"/>
<display
value="Isolated autosomal dominant hypomagnesemia, Glaudemans type"/>
</concept>
<concept>
<code value="199329"/>
<display value="Congenital myopathy, Paradas type"/>
</concept>
<concept>
<code value="199332"/>
<display value="Endocrine-cerebro-osteodysplasia syndrome"/>
</concept>
<concept>
<code value="199337"/>
<display
value="Pancreatic insufficiency-anemia-hyperostosis syndrome"/>
</concept>
<concept>
<code value="199340"/>
<display value="Muscular dystrophy, Selcen type"/>
</concept>
<concept>
<code value="199343"/>
<display value="EAST syndrome"/>
</concept>
<concept>
<code value="199348"/>
<display value="Thiamine-responsive encephalopathy"/>
</concept>
<concept>
<code value="199351"/>
<display value="Adult-onset dystonia-parkinsonism"/>
</concept>
<concept>
<code value="199354"/>
<display
value="Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"/>
</concept>
<concept>
<code value="1995"/>
<display value="Cleft lip-retinopathy syndrome"/>
</concept>
<concept>
<code value="199627"/>
<display value="Atypical autism"/>
</concept>
<concept>
<code value="199630"/>
<display value="Isolated cerebellar vermis hypoplasia"/>
</concept>
<concept>
<code value="199642"/>
<display value="Isolated congenital microcephaly"/>
</concept>
<concept>
<code value="199647"/>
<display value="Isolated encephalocele"/>
</concept>
<concept>
<code value="1997"/>
<display value="Blepharo-cheilo-odontic syndrome"/>
</concept>
<concept>
<code value="20"/>
<display value="3-hydroxy-3-methylglutaric aciduria"/>
</concept>
<concept>
<code value="200"/>
<display value="Isolated corpus callosum agenesis"/>
</concept>
<concept>
<code value="2001"/>
<display
value="Cleft lip/palate-intestinal malrotation-cardiopathy syndrome"/>
</concept>
<concept>
<code value="2003"/>
<display value="Cleft lip/palate-deafness-sacral lipoma syndrome"/>
</concept>
<concept>
<code value="2004"/>
<display value="Laryngotracheoesophageal cleft"/>
</concept>
<concept>
<code value="200418"/>
<display value="Immunodeficiency with factor I anomaly"/>
</concept>
<concept>
<code value="200421"/>
<display value="Immunodeficiency with factor H anomaly"/>
</concept>
<concept>
<code value="2006"/>
<display value="Median cleft lip/mandible"/>
</concept>
<concept>
<code value="2007"/>
<display
value="Alar cartilages hypoplasia-coloboma-telecanthus syndrome"/>
</concept>
<concept>
<code value="2008"/>
<display value="Acrocardiofacial syndrome"/>
</concept>
<concept>
<code value="201"/>
<display value="Cowden syndrome"/>
</concept>
<concept>
<code value="2010"/>
<display value="Cleft palate-stapes fixation-oligodontia syndrome"/>
</concept>
<concept>
<code value="2013"/>
<display value="Cleft palate-large ears-small head syndrome"/>
</concept>
<concept>
<code value="2015"/>
<display
value="Cleft palate-short stature-vertebral anomalies syndrome"/>
</concept>
<concept>
<code value="2016"/>
<display value="Cleft palate-lateral synechia syndrome"/>
</concept>
<concept>
<code value="2017"/>
<display value="Sternal cleft"/>
</concept>
<concept>
<code value="2019"/>
<display value="Femur-fibula-ulna complex"/>
</concept>
<concept>
<code value="2020"/>
<display value="Congenital fiber-type disproportion myopathy"/>
</concept>
<concept>
<code value="2021"/>
<display value="Fibrochondrogenesis"/>
</concept>
<concept>
<code value="2022"/>
<display value="Endocardial fibroelastosis"/>
</concept>
<concept>
<code value="2023"/>
<display value="Undifferentiated pleomorphic sarcoma"/>
</concept>
<concept>
<code value="2024"/>
<display value="Hereditary gingival fibromatosis"/>
</concept>
<concept>
<code value="2025"/>
<display value="Gingival fibromatosis-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="2026"/>
<display value="Gingival fibromatosis-hypertrichosis syndrome"/>
</concept>
<concept>
<code value="2027"/>
<display value="Gingival fibromatosis-progressive deafness syndrome"/>
</concept>
<concept>
<code value="2028"/>
<display value="Juvenile hyaline fibromatosis"/>
</concept>
<concept>
<code value="2030"/>
<display value="Fibrosarcoma"/>
</concept>
<concept>
<code value="2031"/>
<display
value="Hepatic fibrosis-renal cysts-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2032"/>
<display value="Idiopathic pulmonary fibrosis"/>
</concept>
<concept>
<code value="2035"/>
<display value="Lymphatic filariasis"/>
</concept>
<concept>
<code value="2036"/>
<display value="Scalp-ear-nipple syndrome"/>
</concept>
<concept>
<code value="2037"/>
<display value="Congenital aortopulmonary window"/>
</concept>
<concept>
<code value="2038"/>
<display value="Pulmonary arteriovenous malformation"/>
</concept>
<concept>
<code value="2039"/>
<display value="Congenital systemic arteriovenous fistula"/>
</concept>
<concept>
<code value="204"/>
<display value="Sporadic Creutzfeldt-Jakob disease"/>
</concept>
<concept>
<code value="2040"/>
<display value="Congenital respiratory-biliary fistula"/>
</concept>
<concept>
<code value="2041"/>
<display value="Coronary arterial fistula"/>
</concept>
<concept>
<code value="2044"/>
<display value="Floating-Harbor syndrome"/>
</concept>
<concept>
<code value="2045"/>
<display value="FLOTCH syndrome"/>
</concept>
<concept>
<code value="2047"/>
<display value="Flynn-Aird syndrome"/>
</concept>
<concept>
<code value="2048"/>
<display value="Foix-Chavany-Marie syndrome"/>
</concept>
<concept>
<code value="205"/>
<display value="Crigler-Najjar syndrome"/>
</concept>
<concept>
<code value="2050"/>
<display value="Cole-Carpenter syndrome"/>
</concept>
<concept>
<code value="2052"/>
<display value="Fraser syndrome"/>
</concept>
<concept>
<code value="2053"/>
<display value="Freeman-Sheldon syndrome"/>
</concept>
<concept>
<code value="2056"/>
<display value="Essential fructosuria"/>
</concept>
<concept>
<code value="2057"/>
<display
value="Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"/>
</concept>
<concept>
<code value="2058"/>
<display value="Fryns-Smeets-Thiry syndrome"/>
</concept>
<concept>
<code value="2059"/>
<display value="Fryns syndrome"/>
</concept>
<concept>
<code value="2062"/>
<display
value="Progressive non-infectious anterior vertebral fusion"/>
</concept>
<concept>
<code value="2063"/>
<display
value="Splenogonadal fusion-limb defects-micrognathia syndrome"/>
</concept>
<concept>
<code value="2064"/>
<display
value="Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome"/>
</concept>
<concept>
<code value="206436"/>
<display value="Infantile Krabbe disease"/>
</concept>
<concept>
<code value="206443"/>
<display value="Late-infantile/juvenile Krabbe disease"/>
</concept>
<concept>
<code value="206448"/>
<display value="Adult Krabbe disease"/>
</concept>
<concept>
<code value="206470"/>
<display value="Cystadenoma of childhood"/>
</concept>
<concept>
<code value="206484"/>
<display value="Gonadoblastoma"/>
</concept>
<concept>
<code value="206489"/>
<display value="Malignant germ cell tumor of the vagina"/>
</concept>
<concept>
<code value="206492"/>
<display value="Vulvovaginal rhabdomyosarcoma"/>
</concept>
<concept>
<code value="2065"/>
<display value="Galloway-Mowat syndrome"/>
</concept>
<concept>
<code value="206538"/>
<display
value="Malignant non-dysgerminomatous germ cell tumor of ovary"/>
</concept>
<concept>
<code value="206546"/>
<display
value="Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"/>
</concept>
<concept>
<code value="206549"/>
<display
value="Anoctamin-5-related limb-girdle muscular dystrophy R12"/>
</concept>
<concept>
<code value="206554"/>
<display value="Fukutin-related limb-girdle muscular dystrophy R13"/>
</concept>
<concept>
<code value="206559"/>
<display value="POMT2-related limb-girdle muscular dystrophy R14"/>
</concept>
<concept>
<code value="206564"/>
<display value="POMGNT1-related limb-girdle muscular dystrophy R15"/>
</concept>
<concept>
<code value="206569"/>
<display value="Immune-mediated necrotizing myopathy"/>
</concept>
<concept>
<code value="206572"/>
<display value="Overlap myositis"/>
</concept>
<concept>
<code value="206575"/>
<display value="Rippling muscle disease with myasthenia gravis"/>
</concept>
<concept>
<code value="206580"/>
<display
value="Autosomal recessive lower motor neuron disease with childhood onset"/>
</concept>
<concept>
<code value="206583"/>
<display value="Adult polyglucosan body disease"/>
</concept>
<concept>
<code value="206586"/>
<display value="Neurolymphomatosis"/>
</concept>
<concept>
<code value="206594"/>
<display value="Subacute inflammatory demyelinating polyneuropathy"/>
</concept>
<concept>
<code value="206599"/>
<display
value="Isolated asymptomatic elevation of creatine phosphokinase"/>
</concept>
<concept>
<code value="2066"/>
<display value="Gamma-aminobutyric acid transaminase deficiency"/>
</concept>
<concept>
<code value="2067"/>
<display value="GAPO syndrome"/>
</concept>
<concept>
<code value="2069"/>
<display value="Gastrocutaneous syndrome"/>
</concept>
<concept>
<code value="206991"/>
<display value="Viral myositis"/>
</concept>
<concept>
<code value="206994"/>
<display value="Bacterial myositis"/>
</concept>
<concept>
<code value="207"/>
<display value="Crouzon syndrome"/>
</concept>
<concept>
<code value="2070"/>
<display value="Eosinophilic gastroenteritis"/>
</concept>
<concept>
<code value="207000"/>
<display value="Fungal myositis"/>
</concept>
<concept>
<code value="2072"/>
<display
value="Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"/>
</concept>
<concept>
<code value="2073"/>
<display value="Narcolepsy type 1"/>
</concept>
<concept>
<code value="2074"/>
<display value="Gemignani syndrome"/>
</concept>
<concept>
<code value="2075"/>
<display value="Genitopalatocardiac syndrome"/>
</concept>
<concept>
<code value="2077"/>
<display value="German syndrome"/>
</concept>
<concept>
<code value="2078"/>
<display value="Geroderma osteodysplastica"/>
</concept>
<concept>
<code value="2083"/>
<display
value="Prominent glabella-microcephaly-hypogenitalism syndrome"/>
</concept>
<concept>
<code value="2084"/>
<display
value="Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"/>
</concept>
<concept>
<code value="208441"/>
<display
value="Bilateral parasagittal parieto-occipital polymicrogyria"/>
</concept>
<concept>
<code value="208444"/>
<display value="Bilateral frontal polymicrogyria"/>
</concept>
<concept>
<code value="208447"/>
<display value="Bilateral generalized polymicrogyria"/>
</concept>
<concept>
<code value="2085"/>
<display value="Glaucoma-sleep apnea syndrome"/>
</concept>
<concept>
<code value="208513"/>
<display value="Spinocerebellar ataxia type 29"/>
</concept>
<concept>
<code value="208524"/>
<display value="Herpetiform pemphigus"/>
</concept>
<concept>
<code value="2086"/>
<display value="Optic pathway glioma"/>
</concept>
<concept>
<code value="2088"/>
<display value="Fanconi-Bickel syndrome"/>
</concept>
<concept>
<code value="2089"/>
<display
value="Glycogen storage disease due to hepatic glycogen synthase deficiency"/>
</concept>
<concept>
<code value="208989"/>
<display value="Non-paraneoplastic sensory ganglionopathy"/>
</concept>
<concept>
<code value="208999"/>
<display value="Paraneoplastic sensory ganglionopathy"/>
</concept>
<concept>
<code value="2090"/>
<display value="GMS syndrome"/>
</concept>
<concept>
<code value="209004"/>
<display
value="Polyneuropathy associated with IgM monoclonal gammopathy"/>
</concept>
<concept>
<code value="2091"/>
<display
value="Multinodular goiter-cystic kidney-polydactyly syndrome"/>
</concept>
<concept>
<code value="2092"/>
<display value="Focal dermal hypoplasia"/>
</concept>
<concept>
<code value="209335"/>
<display
value="Autosomal dominant adult-onset proximal spinal muscular atrophy"/>
</concept>
<concept>
<code value="209341"/>
<display
value="DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"/>
</concept>
<concept>
<code value="209370"/>
<display value="MECP2-related severe neonatal encephalopathy"/>
</concept>
<concept>
<code value="2095"/>
<display value="Gorlin-Chaudhry-Moss syndrome"/>
</concept>
<concept>
<code value="2097"/>
<display value="Grant syndrome"/>
</concept>
<concept>
<code value="2098"/>
<display value="Acromesomelic dysplasia, Grebe type"/>
</concept>
<concept>
<code value="209867"/>
<display
value="Autosomal dominant rhegmatogenous retinal detachment"/>
</concept>
<concept>
<code value="209902"/>
<display
value="Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"/>
</concept>
<concept>
<code value="209905"/>
<display value="Brain-lung-thyroid syndrome"/>
</concept>
<concept>
<code value="209908"/>
<display value="Isolated childhood apraxia of speech"/>
</concept>
<concept>
<code value="209916"/>
<display value="Extraskeletal myxoid chondrosarcoma"/>
</concept>
<concept>
<code value="209919"/>
<display value="Idiopathic copper-associated cirrhosis"/>
</concept>
<concept>
<code value="209932"/>
<display value="Cone dystrophy with supernormal rod response"/>
</concept>
<concept>
<code value="209943"/>
<display value="IRVAN syndrome"/>
</concept>
<concept>
<code value="209951"/>
<display value="Autosomal spastic paraplegia type 18"/>
</concept>
<concept>
<code value="209956"/>
<display value="Idiopathic uveal effusion syndrome"/>
</concept>
<concept>
<code value="209959"/>
<display value="Phacoanaphylactic uveitis"/>
</concept>
<concept>
<code value="209964"/>
<display value="Solitary rectal ulcer syndrome"/>
</concept>
<concept>
<code value="209967"/>
<display value="Episodic ataxia type 6"/>
</concept>
<concept>
<code value="209970"/>
<display value="Episodic ataxia type 7"/>
</concept>
<concept>
<code value="209973"/>
<display
value="Benign nocturnal alternating hemiplegia of childhood"/>
</concept>
<concept>
<code value="209981"/>
<display value="IRIDA syndrome"/>
</concept>
<concept>
<code value="210"/>
<display value="Cyclosporiasis"/>
</concept>
<concept>
<code value="2101"/>
<display value="Grubben-de Cock-Borghgraef syndrome"/>
</concept>
<concept>
<code value="210110"/>
<display value="Intermediate osteopetrosis"/>
</concept>
<concept>
<code value="210115"/>
<display
value="Sterile multifocal osteomyelitis with periostitis and pustulosis"/>
</concept>
<concept>
<code value="210122"/>
<display value="Congenital alveolar capillary dysplasia"/>
</concept>
<concept>
<code value="210128"/>
<display value="Urocanic aciduria"/>
</concept>
<concept>
<code value="210133"/>
<display
value="Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"/>
</concept>
<concept>
<code value="210136"/>
<display
value="Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"/>
</concept>
<concept>
<code value="210141"/>
<display value="Inherited congenital spastic tetraplegia"/>
</concept>
<concept>
<code value="210144"/>
<display value="Lethal polymalformative syndrome, Boissel type"/>
</concept>
<concept>
<code value="210159"/>
<display value="Adult hepatocellular carcinoma"/>
</concept>
<concept>
<code value="210163"/>
<display value="Congenital lethal myopathy, Compton-North type"/>
</concept>
<concept>
<code value="2102"/>
<display value="GTP cyclohydrolase I deficiency"/>
</concept>
<concept>
<code value="210272"/>
<display value="Mal de débarquement"/>
</concept>
<concept>
<code value="2104"/>
<display value="Dysmorphism-pectus carinatum-joint laxity syndrome"/>
</concept>
<concept>
<code value="210548"/>
<display
value="Macrocephaly-intellectual disability-autism syndrome"/>
</concept>
<concept>
<code value="210571"/>
<display value="Dystonia 16"/>
</concept>
<concept>
<code value="210576"/>
<display value="Congenital temporomandibular joint ankylosis"/>
</concept>
<concept>
<code value="210584"/>
<display value="Spindle cell hemangioma"/>
</concept>
<concept>
<code value="2107"/>
<display value="Hall-Riggs syndrome"/>
</concept>
<concept>
<code value="2108"/>
<display value="Hallermann-Streiff syndrome"/>
</concept>
<concept>
<code value="2109"/>
<display value="Hallermann-Streiff-like syndrome"/>
</concept>
<concept>
<code value="211"/>
<display value="Familial cylindromatosis"/>
</concept>
<concept>
<code value="2110"/>
<display value="Hallux varus-preaxial polysyndactyly syndrome"/>
</concept>
<concept>
<code value="211017"/>
<display value="Spinocerebellar ataxia type 30"/>
</concept>
<concept>
<code value="211067"/>
<display value="Episodic ataxia type 5"/>
</concept>
<concept>
<code value="2111"/>
<display value="Cystic hamartoma of lung and kidney"/>
</concept>
<concept>
<code value="2114"/>
<display value="Hip dysplasia, Beukes type"/>
</concept>
<concept>
<code value="2115"/>
<display value="Harrod syndrome"/>
</concept>
<concept>
<code value="2116"/>
<display value="Hartnup disease"/>
</concept>
<concept>
<code value="2117"/>
<display value="Hartsfield syndrome"/>
</concept>
<concept>
<code value="2118"/>
<display value="Hawkinsinuria"/>
</concept>
<concept>
<code value="2119"/>
<display value="HEC syndrome"/>
</concept>
<concept>
<code value="212"/>
<display value="Cystathioninuria"/>
</concept>
<concept>
<code value="2122"/>
<display value="Kaposiform hemangioendothelioma"/>
</concept>
<concept>
<code value="2123"/>
<display
value="Multifocal infantile hemangioma with extracutenous involvement"/>
</concept>
<concept>
<code value="2126"/>
<display value="Solitary fibrous tumor"/>
</concept>
<concept>
<code value="2128"/>
<display value="Isolated hemihyperplasia"/>
</concept>
<concept>
<code value="213"/>
<display value="Cystinosis"/>
</concept>
<concept>
<code value="2131"/>
<display value="Alternating hemiplegia of childhood"/>
</concept>
<concept>
<code value="2132"/>
<display value="Hemoglobin C disease"/>
</concept>
<concept>
<code value="2133"/>
<display value="Hemoglobin E disease"/>
</concept>
<concept>
<code value="2134"/>
<display value="Atypical hemolytic uremic syndrome"/>
</concept>
<concept>
<code value="2135"/>
<display value="Cutaneous mastocytosis-deafness-microtia syndrome"/>
</concept>
<concept>
<code value="213504"/>
<display value="Adenocarcinoma of ovary"/>
</concept>
<concept>
<code value="213512"/>
<display value="Malignant mixed Müllerian tumor of the ovary"/>
</concept>
<concept>
<code value="213528"/>
<display value="Rare adenocarcinoma of the breast"/>
</concept>
<concept>
<code value="213531"/>
<display value="Metaplastic carcinoma of the breast"/>
</concept>
<concept>
<code value="213557"/>
<display value="Salivary gland type cancer of the breast"/>
</concept>
<concept>
<code value="2136"/>
<display value="Hennekam syndrome"/>
</concept>
<concept>
<code value="213600"/>
<display value="Adenosarcoma of the corpus uteri"/>
</concept>
<concept>
<code value="213605"/>
<display value="Carcinofibroma of the corpus uteri"/>
</concept>
<concept>
<code value="213610"/>
<display value="Carcinosarcoma of the corpus uteri"/>
</concept>
<concept>
<code value="213615"/>
<display value="Rhabdomyosarcoma of the corpus uteri"/>
</concept>
<concept>
<code value="213625"/>
<display value="Leiomyosarcoma of the corpus uteri"/>
</concept>
<concept>
<code value="213630"/>
<display value="Primitive neuroectodermal tumor of the corpus uteri"/>
</concept>
<concept>
<code value="2137"/>
<display value="Autoimmune hepatitis"/>
</concept>
<concept>
<code value="213711"/>
<display value="Endometrial stromal sarcoma"/>
</concept>
<concept>
<code value="213716"/>
<display value="Squamous cell carcinoma of the corpus uteri"/>
</concept>
<concept>
<code value="213721"/>
<display value="Undifferentiated carcinoma of the corpus uteri"/>
</concept>
<concept>
<code value="213726"/>
<display value="Serous carcinoma of the corpus uteri"/>
</concept>
<concept>
<code value="213731"/>
<display
value="High-grade neuroendocrine carcinoma of the corpus uteri"/>
</concept>
<concept>
<code value="213736"/>
<display value="Low-grade neuroendocrine tumor of the corpus uteri"/>
</concept>
<concept>
<code value="213746"/>
<display value="Transitional cell carcinoma of the corpus uteri"/>
</concept>
<concept>
<code value="213751"/>
<display value="Malignant germ cell tumor of the corpus uteri"/>
</concept>
<concept>
<code value="213767"/>
<display value="Squamous cell carcinoma of the cervix uteri"/>
</concept>
<concept>
<code value="213772"/>
<display value="Adenocarcinoma of the cervix uteri"/>
</concept>
<concept>
<code value="213777"/>
<display
value="High-grade neuroendocrine carcinoma of the cervix uteri"/>
</concept>
<concept>
<code value="213787"/>
<display value="Carcinosarcoma of the cervix uteri"/>
</concept>
<concept>
<code value="213792"/>
<display value="Adenosarcoma of the cervix uteri"/>
</concept>
<concept>
<code value="2138"/>
<display value="46,XX ovotesticular difference of sex development"/>
</concept>
<concept>
<code value="213802"/>
<display value="Rhabdomyosarcoma of the cervix uteri"/>
</concept>
<concept>
<code value="213807"/>
<display value="Leiomyosarcoma of the cervix uteri"/>
</concept>
<concept>
<code value="213812"/>
<display value="Primitive neuroectodermal tumor of the cervix uteri"/>
</concept>
<concept>
<code value="213823"/>
<display value="Adenoid cystic carcinoma of the cervix uteri"/>
</concept>
<concept>
<code value="213828"/>
<display value="Adenoid basal carcinoma of the cervix uteri"/>
</concept>
<concept>
<code value="213833"/>
<display value="Glassy cell carcinoma of the cervix uteri"/>
</concept>
<concept>
<code value="213837"/>
<display value="Malignant germ cell tumor of the cervix uteri"/>
</concept>
<concept>
<code value="2139"/>
<display value="Hernández-Aguirre Negrete syndrome"/>
</concept>
<concept>
<code value="214"/>
<display value="Cystinuria"/>
</concept>
<concept>
<code value="2140"/>
<display value="Congenital diaphragmatic hernia"/>
</concept>
<concept>
<code value="2141"/>
<display
value="Diaphragmatic defect-limb deficiency-skull defect syndrome"/>
</concept>
<concept>
<code value="2143"/>
<display value="Donnai-Barrow syndrome"/>
</concept>
<concept>
<code value="2145"/>
<display value="Craniosynostosis, Herrmann-Opitz type"/>
</concept>
<concept>
<code value="2148"/>
<display
value="Lissencephaly type 1 due to doublecortin gene mutation"/>
</concept>
<concept>
<code value="2149"/>
<display value="Nodular neuronal heterotopia"/>
</concept>
<concept>
<code value="215"/>
<display value="Congenital stationary night blindness"/>
</concept>
<concept>
<code value="2150"/>
<display value="Hirschsprung disease-type D brachydactyly syndrome"/>
</concept>
<concept>
<code value="2151"/>
<display value="Hirschsprung disease-ganglioneuroblastoma syndrome"/>
</concept>
<concept>
<code value="2152"/>
<display value="Mowat-Wilson syndrome"/>
</concept>
<concept>
<code value="2153"/>
<display
value="Hirschsprung disease-nail hypoplasia-dysmorphism syndrome"/>
</concept>
<concept>
<code value="2155"/>
<display value="Hirschsprung disease-deafness-polydactyly syndrome"/>
</concept>
<concept>
<code value="2157"/>
<display value="Histidinemia"/>
</concept>
<concept>
<code value="2158"/>
<display value="Histidinuria-renal tubular defect syndrome"/>
</concept>
<concept>
<code value="2162"/>
<display value="Holoprosencephaly"/>
</concept>
<concept>
<code value="2163"/>
<display value="Holoprosencephaly-craniosynostosis syndrome"/>
</concept>
<concept>
<code value="2165"/>
<display value="Holoprosencephaly-caudal dysgenesis syndrome"/>
</concept>
<concept>
<code value="2166"/>
<display value="Holoprosencephaly-postaxial polydactyly syndrome"/>
</concept>
<concept>
<code value="216694"/>
<display
value="Congenitally corrected transposition of the great arteries"/>
</concept>
<concept>
<code value="2167"/>
<display value="Holzgreve syndrome"/>
</concept>
<concept>
<code value="216718"/>
<display
value="Isolated congenitally uncorrected transposition of the great arteries"/>
</concept>
<concept>
<code value="216729"/>
<display
value="Congenitally uncorrected transposition of the great arteries with cardiac malformation"/>
</concept>
<concept>
<code value="216796"/>
<display value="Osteogenesis imperfecta type 1"/>
</concept>
<concept>
<code value="216804"/>
<display value="Osteogenesis imperfecta type 2"/>
</concept>
<concept>
<code value="216812"/>
<display value="Osteogenesis imperfecta type 3"/>
</concept>
<concept>
<code value="216820"/>
<display value="Osteogenesis imperfecta type 4"/>
</concept>
<concept>
<code value="216828"/>
<display value="Osteogenesis imperfecta type 5"/>
</concept>
<concept>
<code value="216866"/>
<display
value="Classic pantothenate kinase-associated neurodegeneration"/>
</concept>
<concept>
<code value="216873"/>
<display
value="Atypical pantothenate kinase-associated neurodegeneration"/>
</concept>
<concept>
<code value="2169"/>
<display value="Methylcobalamin deficiency type cblE"/>
</concept>
<concept>
<code value="216972"/>
<display value="Niemann-Pick disease type C, severe perinatal form"/>
</concept>
<concept>
<code value="216975"/>
<display
value="Niemann-Pick disease type C, severe early infantile neurologic onset"/>
</concept>
<concept>
<code value="216978"/>
<display
value="Niemann-Pick disease type C, late infantile neurologic onset"/>
</concept>
<concept>
<code value="216981"/>
<display
value="Niemann-Pick disease type C, juvenile neurologic onset"/>
</concept>
<concept>
<code value="216986"/>
<display value="Niemann-Pick disease type C, adult neurologic onset"/>
</concept>
<concept>
<code value="217"/>
<display value="Isolated Dandy-Walker malformation"/>
</concept>
<concept>
<code value="2170"/>
<display value="Methylcobalamin deficiency type cblG"/>
</concept>
<concept>
<code value="217008"/>
<display value="Bockenheimer syndrome"/>
</concept>
<concept>
<code value="217012"/>
<display value="Spinocerebellar ataxia type 31"/>
</concept>
<concept>
<code value="217017"/>
<display value="Zechi-Ceide syndrome"/>
</concept>
<concept>
<code value="217026"/>
<display
value="Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"/>
</concept>
<concept>
<code value="217055"/>
<display
value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"/>
</concept>
<concept>
<code value="217059"/>
<display value="Isolated nail clubbing"/>
</concept>
<concept>
<code value="217064"/>
<display value="5-fluorouracil poisoning"/>
</concept>
<concept>
<code value="217067"/>
<display value="Pouchitis"/>
</concept>
<concept>
<code value="217080"/>
<display
value="Pulmonary fungal infections in patients deemed at risk"/>
</concept>
<concept>
<code value="217085"/>
<display value="Mucopolysaccharidosis type 2, severe form"/>
</concept>
<concept>
<code value="217093"/>
<display value="Mucopolysaccharidosis type 2, attenuated form"/>
</concept>
<concept>
<code value="2172"/>
<display
value="Microcephaly-glomerulonephritis-marfanoid habitus syndrome"/>
</concept>
<concept>
<code value="217253"/>
<display value="NMDA receptor encephalitis"/>
</concept>
<concept>
<code value="217260"/>
<display value="Progressive multifocal leukoencephalopathy"/>
</concept>
<concept>
<code value="217266"/>
<display value="BNAR syndrome"/>
</concept>
<concept>
<code value="217330"/>
<display
value="REN-related autosomal dominant tubulointerstitial kidney disease"/>
</concept>
<concept>
<code value="217335"/>
<display value="RIN2 syndrome"/>
</concept>
<concept>
<code value="217340"/>
<display value="17q21.31 microduplication syndrome"/>
</concept>
<concept>
<code value="217346"/>
<display value="19q13.11 microdeletion syndrome"/>
</concept>
<concept>
<code value="217371"/>
<display
value="Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"/>
</concept>
<concept>
<code value="217377"/>
<display value="Microduplication Xp11.22p11.23 syndrome"/>
</concept>
<concept>
<code value="217382"/>
<display
value="Neurodegenerative syndrome due to cerebral folate transport deficiency"/>
</concept>
<concept>
<code value="217385"/>
<display value="17p13.3 microduplication syndrome"/>
</concept>
<concept>
<code value="217390"/>
<display value="Combined immunodeficiency due to DOCK8 deficiency"/>
</concept>
<concept>
<code value="217396"/>
<display
value="Progressive polyneuropathy with bilateral striatal necrosis"/>
</concept>
<concept>
<code value="217399"/>
<display
value="Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation"/>
</concept>
<concept>
<code value="217407"/>
<display
value="Hereditary hypotrichosis with recurrent skin vesicles"/>
</concept>
<concept>
<code value="217467"/>
<display
value="Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"/>
</concept>
<concept>
<code value="217557"/>
<display value="Pulmonary interstitial glycogenosis"/>
</concept>
<concept>
<code value="217560"/>
<display value="Neuroendocrine cell hyperplasia of infancy"/>
</concept>
<concept>
<code value="217563"/>
<display value="Neonatal acute respiratory distress syndrome"/>
</concept>
<concept>
<code value="217566"/>
<display
value="Chronic respiratory distress with surfactant metabolism deficiency"/>
</concept>
<concept>
<code value="2176"/>
<display value="Infantile systemic hyalinosis"/>
</concept>
<concept>
<code value="217622"/>
<display value="Sensorineural deafness with dilated cardiomyopathy"/>
</concept>
<concept>
<code value="217656"/>
<display value="Inherited isolated arrhythmogenic cardiomyopathy"/>
</concept>
<concept>
<code value="2177"/>
<display value="Hydranencephaly"/>
</concept>
<concept>
<code value="218"/>
<display value="Darier disease"/>
</concept>
<concept>
<code value="2180"/>
<display
value="Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome"/>
</concept>
<concept>
<code value="2181"/>
<display value="Hydrocephaly-tall stature-joint laxity syndrome"/>
</concept>
<concept>
<code value="2182"/>
<display
value="Hydrocephalus with stenosis of the aqueduct of Sylvius"/>
</concept>
<concept>
<code value="2183"/>
<display value="Hydrocephalus-obesity-hypogonadism syndrome"/>
</concept>
<concept>
<code value="2184"/>
<display value="Hydrocephaly-low insertion umbilicus syndrome"/>
</concept>
<concept>
<code value="2185"/>
<display value="Congenital hydrocephalus"/>
</concept>
<concept>
<code value="2186"/>
<display value="Hydrocephalus-blue sclerae-nephropathy syndrome"/>
</concept>
<concept>
<code value="2189"/>
<display value="Hydrolethalus"/>
</concept>
<concept>
<code value="219"/>
<display
value="Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"/>
</concept>
<concept>
<code value="2195"/>
<display value="Dicarboxylic aminoaciduria"/>
</concept>
<concept>
<code value="2196"/>
<display
value="Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"/>
</concept>
<concept>
<code value="2197"/>
<display value="Idiopathic hypercalciuria"/>
</concept>
<concept>
<code value="2198"/>
<display
value="Palmoplantar keratoderma-esophageal carcinoma syndrome"/>
</concept>
<concept>
<code value="2199"/>
<display value="Epidermolytic palmoplantar keratoderma"/>
</concept>
<concept>
<code value="22"/>
<display value="Succinic semialdehyde dehydrogenase deficiency"/>
</concept>
<concept>
<code value="220"/>
<display value="Denys-Drash syndrome"/>
</concept>
<concept>
<code value="2200"/>
<display value="Focal palmoplantar and gingival keratoderma"/>
</concept>
<concept>
<code value="2201"/>
<display value="Palmoplantar keratoderma-spastic paralysis syndrome"/>
</concept>
<concept>
<code value="2202"/>
<display value="Palmoplantar keratoderma-deafness syndrome"/>
</concept>
<concept>
<code value="220295"/>
<display value="Xeroderma pigmentosum-Cockayne syndrome complex"/>
</concept>
<concept>
<code value="2203"/>
<display value="Hyperlysinemia"/>
</concept>
<concept>
<code value="220386"/>
<display value="Semilobar holoprosencephaly"/>
</concept>
<concept>
<code value="220393"/>
<display value="Diffuse cutaneous systemic sclerosis"/>
</concept>
<concept>
<code value="2204"/>
<display
value="Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type"/>
</concept>
<concept>
<code value="220402"/>
<display value="Limited cutaneous systemic sclerosis"/>
</concept>
<concept>
<code value="220407"/>
<display value="Limited systemic sclerosis"/>
</concept>
<concept>
<code value="220436"/>
<display value="Quebec platelet disorder"/>
</concept>
<concept>
<code value="220443"/>
<display
value="Bleeding diathesis due to thromboxane synthesis deficiency"/>
</concept>
<concept>
<code value="220448"/>
<display
value="Macrothrombocytopenia with mitral valve insufficiency"/>
</concept>
<concept>
<code value="220460"/>
<display value="Attenuated familial adenomatous polyposis"/>
</concept>
<concept>
<code value="220465"/>
<display value="Laron syndrome with immunodeficiency"/>
</concept>
<concept>
<code value="220493"/>
<display value="Joubert syndrome with ocular defect"/>
</concept>
<concept>
<code value="220497"/>
<display value="Joubert syndrome with renal defect"/>
</concept>
<concept>
<code value="2206"/>
<display value="Ankylosing vertebral hyperostosis with tylosis"/>
</concept>
<concept>
<code value="2209"/>
<display value="Maternal phenylketonuria syndrome"/>
</concept>
<concept>
<code value="221"/>
<display value="Dermatomyositis"/>
</concept>
<concept>
<code value="221008"/>
<display value="Rothmund-Thomson syndrome type 1"/>
</concept>
<concept>
<code value="221016"/>
<display value="Rothmund-Thomson syndrome type 2"/>
</concept>
<concept>
<code value="221039"/>
<display value="Hereditary sclerosing poikiloderma, Weary type"/>
</concept>
<concept>
<code value="221043"/>
<display
value="Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"/>
</concept>
<concept>
<code value="221046"/>
<display value="Poikiloderma with neutropenia"/>
</concept>
<concept>
<code value="221054"/>
<display value="Acrocephalopolydactyly"/>
</concept>
<concept>
<code value="221061"/>
<display value="Familial cerebral cavernous malformation"/>
</concept>
<concept>
<code value="221074"/>
<display value="Marchiafava-Bignami disease"/>
</concept>
<concept>
<code value="221078"/>
<display
value="Combined hyperactive dysfunction syndrome of the cranial nerves"/>
</concept>
<concept>
<code value="221083"/>
<display value="Hemifacial spasm"/>
</concept>
<concept>
<code value="221091"/>
<display value="Trigeminal neuralgia"/>
</concept>
<concept>
<code value="221098"/>
<display value="Glossopharyngeal neuralgia"/>
</concept>
<concept>
<code value="2211"/>
<display value="Hypertelorism-hypospadias-polysyndactyly syndrome"/>
</concept>
<concept>
<code value="221117"/>
<display value="Gerstmann syndrome"/>
</concept>
<concept>
<code value="221120"/>
<display value="Pseudoaminopterin syndrome"/>
</concept>
<concept>
<code value="221126"/>
<display value="Fowler vasculopathy"/>
</concept>
<concept>
<code value="221139"/>
<display
value="Combined immunodeficiency with facio-oculo-skeletal anomalies"/>
</concept>
<concept>
<code value="221142"/>
<display value="Confetti-like macular atrophy"/>
</concept>
<concept>
<code value="221145"/>
<display
value="Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"/>
</concept>
<concept>
<code value="2213"/>
<display value="Hypertelorism-microtia-facial clefting syndrome"/>
</concept>
<concept>
<code value="2215"/>
<display value="Multiple pterygium-malignant hyperthermia syndrome"/>
</concept>
<concept>
<code value="2216"/>
<display value="Maternal hyperthermia-induced birth defects"/>
</concept>
<concept>
<code value="2218"/>
<display
value="Cervical hypertrichosis-peripheral neuropathy syndrome"/>
</concept>
<concept>
<code value="222"/>
<display value="Erosive pustular dermatosis of the scalp"/>
</concept>
<concept>
<code value="2220"/>
<display value="Hypertrichosis cubiti"/>
</concept>
<concept>
<code value="2221"/>
<display value="Acquired hypertrichosis lanuginosa"/>
</concept>
<concept>
<code value="2222"/>
<display value="Hypertrichosis lanuginosa congenita"/>
</concept>
<concept>
<code value="2224"/>
<display value="Hypertryptophanemia"/>
</concept>
<concept>
<code value="2228"/>
<display value="Hypodontia-dysplasia of nails syndrome"/>
</concept>
<concept>
<code value="2229"/>
<display
value="Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"/>
</concept>
<concept>
<code value="223"/>
<display value="Arginine vasopressin resistance"/>
</concept>
<concept>
<code value="2230"/>
<display
value="Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome"/>
</concept>
<concept>
<code value="2232"/>
<display
value="Primary hypergonadotropic hypogonadism-partial alopecia syndrome"/>
</concept>
<concept>
<code value="2233"/>
<display
value="Hypogonadism-mitral valve prolapse-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2234"/>
<display
value="Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="2235"/>
<display
value="Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"/>
</concept>
<concept>
<code value="2237"/>
<display
value="Hypoparathyroidism-sensorineural deafness-renal disease syndrome"/>
</concept>
<concept>
<code value="2238"/>
<display value="Familial isolated hypoparathyroidism"/>
</concept>
<concept>
<code value="2239"/>
<display
value="Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"/>
</concept>
<concept>
<code value="2241"/>
<display
value="Megacystis-microcolon-intestinal hypoperistalsis syndrome"/>
</concept>
<concept>
<code value="2246"/>
<display
value="Cerebellar hypoplasia-tapetoretinal degeneration syndrome"/>
</concept>
<concept>
<code value="2248"/>
<display value="Hypoplastic left heart syndrome"/>
</concept>
<concept>
<code value="2249"/>
<display value="Ulna hypoplasia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2250"/>
<display
value="Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"/>
</concept>
<concept>
<code value="2251"/>
<display
value="Thumb deformity-alopecia-pigmentation anomaly syndrome"/>
</concept>
<concept>
<code value="225123"/>
<display value="TFR2-related hemochromatosis"/>
</concept>
<concept>
<code value="225147"/>
<display value="Sporadic infantile bilateral striatal necrosis"/>
</concept>
<concept>
<code value="225154"/>
<display value="Familial infantile bilateral striatal necrosis"/>
</concept>
<concept>
<code value="2252"/>
<display
value="Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"/>
</concept>
<concept>
<code value="2253"/>
<display value="Foveal hypoplasia-presenile cataract syndrome"/>
</concept>
<concept>
<code value="2254"/>
<display value="Pontocerebellar hypoplasia type 1"/>
</concept>
<concept>
<code value="2255"/>
<display
value="Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"/>
</concept>
<concept>
<code value="2256"/>
<display value="Fibulo-ulnar hypoplasia-renal anomalies syndrome"/>
</concept>
<concept>
<code value="2257"/>
<display value="Primary pulmonary hypoplasia"/>
</concept>
<concept>
<code value="226"/>
<display value="Dihydropteridine reductase deficiency"/>
</concept>
<concept>
<code value="2260"/>
<display value="Oligomeganephronia"/>
</concept>
<concept>
<code value="2261"/>
<display
value="Hypospadias-intellectual disability, Goldblatt type syndrome"/>
</concept>
<concept>
<code value="226307"/>
<display
value="Hypothyroidism due to deficient transcription factors involved in pituitary development or function"/>
</concept>
<concept>
<code value="226313"/>
<display
value="Congenital hypothyroidism due to maternal intake of antithyroid drugs"/>
</concept>
<concept>
<code value="226316"/>
<display value="Genetic transient congenital hypothyroidism"/>
</concept>
<concept>
<code value="2266"/>
<display value="Hypotrichosis-intellectual disability, Lopes type"/>
</concept>
<concept>
<code value="2268"/>
<display value="ICF syndrome"/>
</concept>
<concept>
<code value="2269"/>
<display
value="Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome"/>
</concept>
<concept>
<code value="227"/>
<display value="Diphallia"/>
</concept>
<concept>
<code value="2271"/>
<display
value="Congenital ichthyosis-microcephalus-tetraplegia syndrome"/>
</concept>
<concept>
<code value="2272"/>
<display value="Ichthyosis-oral and digital anomalies syndrome"/>
</concept>
<concept>
<code value="2273"/>
<display
value="Ichthyosis follicularis-alopecia-photophobia syndrome"/>
</concept>
<concept>
<code value="2274"/>
<display
value="Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"/>
</concept>
<concept>
<code value="227510"/>
<display value="Multiple system atrophy, cerebellar type"/>
</concept>
<concept>
<code value="227535"/>
<display value="Hereditary breast cancer"/>
</concept>
<concept>
<code value="227796"/>
<display value="Fundus albipunctatus"/>
</concept>
<concept>
<code value="2278"/>
<display
value="Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"/>
</concept>
<concept>
<code value="227972"/>
<display value="Toxic oil syndrome"/>
</concept>
<concept>
<code value="227976"/>
<display value="Autosomal recessive optic atrophy, OPA7 type"/>
</concept>
<concept>
<code value="227982"/>
<display value="Autoimmune polyendocrinopathy type 3"/>
</concept>
<concept>
<code value="227990"/>
<display value="Autoimmune polyendocrinopathy type 4"/>
</concept>
<concept>
<code value="228000"/>
<display value="Idiopathic CD4 lymphocytopenia"/>
</concept>
<concept>
<code value="228003"/>
<display
value="Severe combined immunodeficiency due to CORO1A deficiency"/>
</concept>
<concept>
<code value="228012"/>
<display
value="Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"/>
</concept>
<concept>
<code value="228113"/>
<display value="Anal fistula"/>
</concept>
<concept>
<code value="228116"/>
<display value="Hughes-Stovin syndrome"/>
</concept>
<concept>
<code value="228119"/>
<display value="Fusariosis"/>
</concept>
<concept>
<code value="228123"/>
<display value="Coccidioidomycosis"/>
</concept>
<concept>
<code value="228140"/>
<display value="Idiopathic ventricular fibrillation"/>
</concept>
<concept>
<code value="228157"/>
<display value="Marburg acute multiple sclerosis"/>
</concept>
<concept>
<code value="228165"/>
<display value="Baló concentric sclerosis"/>
</concept>
<concept>
<code value="228169"/>
<display value="Autosomal dominant striatal neurodegeneration"/>
</concept>
<concept>
<code value="228174"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2N"/>
</concept>
<concept>
<code value="228179"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2M"/>
</concept>
<concept>
<code value="228190"/>
<display
value="Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome"/>
</concept>
<concept>
<code value="2282"/>
<display
value="Dysmorphism-short stature-deafness-difference of sex development syndrome"/>
</concept>
<concept>
<code value="228227"/>
<display value="Late-onset focal dermal elastosis"/>
</concept>
<concept>
<code value="228236"/>
<display value="Linear focal elastosis"/>
</concept>
<concept>
<code value="228240"/>
<display value="Elastoderma"/>
</concept>
<concept>
<code value="228243"/>
<display value="Elastofibroma dorsi"/>
</concept>
<concept>
<code value="228247"/>
<display value="Acquired pseudoxanthoma elasticum"/>
</concept>
<concept>
<code value="228254"/>
<display value="Elastoma"/>
</concept>
<concept>
<code value="228264"/>
<display value="Papular elastorrhexis"/>
</concept>
<concept>
<code value="228272"/>
<display value="Primary anetoderma"/>
</concept>
<concept>
<code value="228277"/>
<display value="Familial anetoderma"/>
</concept>
<concept>
<code value="228285"/>
<display value="Acquired cutis laxa"/>
</concept>
<concept>
<code value="228290"/>
<display value="White fibrous papulosis of the neck"/>
</concept>
<concept>
<code value="228293"/>
<display
value="Pseudoxanthoma elasticum-like papillary dermal elastolysis"/>
</concept>
<concept>
<code value="228299"/>
<display value="Mid-dermal elastolysis"/>
</concept>
<concept>
<code value="228302"/>
<display
value="Carnitine palmitoyl transferase II deficiency, myopathic form"/>
</concept>
<concept>
<code value="228305"/>
<display
value="Carnitine palmitoyl transferase II deficiency, severe infantile form"/>
</concept>
<concept>
<code value="228308"/>
<display
value="Carnitine palmitoyl transferase II deficiency, neonatal form"/>
</concept>
<concept>
<code value="228329"/>
<display value="CLN1 disease"/>
</concept>
<concept>
<code value="228337"/>
<display value="CLN10 disease"/>
</concept>
<concept>
<code value="228343"/>
<display value="CLN4 disease"/>
</concept>
<concept>
<code value="228346"/>
<display value="CLN3 disease"/>
</concept>
<concept>
<code value="228349"/>
<display value="CLN2 disease"/>
</concept>
<concept>
<code value="228354"/>
<display value="CLN8 disease"/>
</concept>
<concept>
<code value="228360"/>
<display value="CLN5 disease"/>
</concept>
<concept>
<code value="228363"/>
<display value="CLN6 disease"/>
</concept>
<concept>
<code value="228366"/>
<display value="CLN7 disease"/>
</concept>
<concept>
<code value="228371"/>
<display value="Foodborne botulism"/>
</concept>
<concept>
<code value="228374"/>
<display value="Charcot-Marie-Tooth disease type 2B5"/>
</concept>
<concept>
<code value="228379"/>
<display value="Virus-associated trichodysplasia spinulosa"/>
</concept>
<concept>
<code value="228384"/>
<display value="5q14.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="228387"/>
<display value="Spondylo-megaepiphyseal-metaphyseal dysplasia"/>
</concept>
<concept>
<code value="228390"/>
<display
value="Frontonasal dysplasia-alopecia-genital anomalies syndrome"/>
</concept>
<concept>
<code value="228396"/>
<display
value="Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"/>
</concept>
<concept>
<code value="228399"/>
<display value="8q12 microduplication syndrome"/>
</concept>
<concept>
<code value="228402"/>
<display value="2q23.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="228410"/>
<display
value="Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="228415"/>
<display value="5q35 microduplication syndrome"/>
</concept>
<concept>
<code value="228423"/>
<display value="GATA2 deficiency spectrum"/>
</concept>
<concept>
<code value="228426"/>
<display
value="Syndromic multisystem autoimmune disease due to Itch deficiency"/>
</concept>
<concept>
<code value="228429"/>
<display value="Congenital generalized lipodystrophy type 4"/>
</concept>
<concept>
<code value="2285"/>
<display value="Primary basilar invagination"/>
</concept>
<concept>
<code value="2287"/>
<display value="Fused mandibular incisors"/>
</concept>
<concept>
<code value="2289"/>
<display value="Neuronal intranuclear inclusion disease"/>
</concept>
<concept>
<code value="229"/>
<display value="Familial aortic dissection"/>
</concept>
<concept>
<code value="2290"/>
<display value="Microvillus inclusion disease"/>
</concept>
<concept>
<code value="2291"/>
<display value="Congenital velopharyngeal incompetence"/>
</concept>
<concept>
<code value="2295"/>
<display value="Familial articular hypermobility syndrome"/>
</concept>
<concept>
<code value="2297"/>
<display value="Insulin-resistance syndrome type A"/>
</concept>
<concept>
<code value="229717"/>
<display value="Non-syndromic agammaglobulinemia"/>
</concept>
<concept>
<code value="2298"/>
<display value="Insulin-resistance syndrome type B"/>
</concept>
<concept>
<code value="2299"/>
<display value="Aortic arch interruption"/>
</concept>
<concept>
<code value="23"/>
<display value="Argininosuccinic aciduria"/>
</concept>
<concept>
<code value="230"/>
<display value="Dopamine beta-hydroxylase deficiency"/>
</concept>
<concept>
<code value="2300"/>
<display value="Isolated multiple intestinal atresia"/>
</concept>
<concept>
<code value="2301"/>
<display value="Congenital short bowel syndrome"/>
</concept>
<concept>
<code value="2302"/>
<display value="Asbestos intoxication"/>
</concept>
<concept>
<code value="2305"/>
<display value="Isotretinoin syndrome"/>
</concept>
<concept>
<code value="2306"/>
<display value="Isotretinoin-like syndrome"/>
</concept>
<concept>
<code value="2307"/>
<display value="IVIC syndrome"/>
</concept>
<concept>
<code value="2308"/>
<display value="Jacobsen syndrome"/>
</concept>
<concept>
<code value="230800"/>
<display value="Toxin-mediated infectious botulism"/>
</concept>
<concept>
<code value="230839"/>
<display value="Classical-like Ehlers-Danlos syndrome type 1"/>
</concept>
<concept>
<code value="230851"/>
<display value="Cardiac-valvular Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="230857"/>
<display value="Ehlers-Danlos/osteogenesis imperfecta syndrome"/>
</concept>
<concept>
<code value="2309"/>
<display value="Pachyonychia congenita"/>
</concept>
<concept>
<code value="231"/>
<display value="Dracunculiasis"/>
</concept>
<concept>
<code value="2310"/>
<display value="Absence deformity of leg-cataract syndrome"/>
</concept>
<concept>
<code value="231013"/>
<display value="Congenital trigeminal anesthesia"/>
</concept>
<concept>
<code value="231031"/>
<display value="Erythema palmare hereditarium"/>
</concept>
<concept>
<code value="231040"/>
<display value="Familial generalized lentiginosis"/>
</concept>
<concept>
<code value="231080"/>
<display
value="High-grade dysplasia in patients with Barrett esophagus"/>
</concept>
<concept>
<code value="2311"/>
<display value="Autosomal recessive spondylocostal dysostosis"/>
</concept>
<concept>
<code value="231108"/>
<display value="Rhabdoid tumor predisposition syndrome"/>
</concept>
<concept>
<code value="231111"/>
<display value="Drug-induced lupus erythematosus"/>
</concept>
<concept>
<code value="231117"/>
<display
value="Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"/>
</concept>
<concept>
<code value="231120"/>
<display value="Beckwith-Wiedemann syndrome due to CDKN1C mutation"/>
</concept>
<concept>
<code value="231127"/>
<display
value="Beckwith-Wiedemann syndrome due to 11p15 microdeletion"/>
</concept>
<concept>
<code value="231130"/>
<display
value="Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"/>
</concept>
<concept>
<code value="231137"/>
<display
value="Silver-Russell syndrome due to 7p11.2p13 microduplication"/>
</concept>
<concept>
<code value="231140"/>
<display
value="Silver-Russell syndrome due to an imprinting defect of 11p15"/>
</concept>
<concept>
<code value="231144"/>
<display
value="Silver-Russell syndrome due to 11p15 microduplication"/>
</concept>
<concept>
<code value="231147"/>
<display
value="Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"/>
</concept>
<concept>
<code value="231154"/>
<display
value="Combined immunodeficiency due to partial RAG1 deficiency"/>
</concept>
<concept>
<code value="231160"/>
<display value="Familial cerebral saccular aneurysm"/>
</concept>
<concept>
<code value="231169"/>
<display value="Usher syndrome type 1"/>
</concept>
<concept>
<code value="231178"/>
<display value="Usher syndrome type 2"/>
</concept>
<concept>
<code value="231183"/>
<display value="Usher syndrome type 3"/>
</concept>
<concept>
<code value="2312"/>
<display value="Transient familial neonatal hyperbilirubinemia"/>
</concept>
<concept>
<code value="231205"/>
<display
value="Common variable immunodeficiency without known genetic defect"/>
</concept>
<concept>
<code value="231214"/>
<display value="Beta-thalassemia major"/>
</concept>
<concept>
<code value="231222"/>
<display value="Beta-thalassemia intermedia"/>
</concept>
<concept>
<code value="231226"/>
<display value="Dominant beta-thalassemia"/>
</concept>
<concept>
<code value="231237"/>
<display value="Delta-beta-thalassemia"/>
</concept>
<concept>
<code value="231242"/>
<display value="Hemoglobin C-beta-thalassemia syndrome"/>
</concept>
<concept>
<code value="231249"/>
<display value="Hemoglobin E-beta-thalassemia syndrome"/>
</concept>
<concept>
<code value="231393"/>
<display value="Beta-thalassemia-X-linked thrombocytopenia syndrome"/>
</concept>
<concept>
<code value="2314"/>
<display
value="Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency"/>
</concept>
<concept>
<code value="231401"/>
<display value="Alpha-thalassemia-myelodysplastic syndrome"/>
</concept>
<concept>
<code value="231426"/>
<display
value="Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome"/>
</concept>
<concept>
<code value="231445"/>
<display value="Paraparetic variant of Guillain-Barré syndrome"/>
</concept>
<concept>
<code value="231450"/>
<display value="Acute pure sensory neuropathy"/>
</concept>
<concept>
<code value="231457"/>
<display value="Acute pandysautonomia"/>
</concept>
<concept>
<code value="231466"/>
<display value="Acute sensory ataxic neuropathy"/>
</concept>
<concept>
<code value="2315"/>
<display value="Johanson-Blizzard syndrome"/>
</concept>
<concept>
<code value="231500"/>
<display value="Hermansky-Pudlak syndrome due to BLOC-3 deficiency"/>
</concept>
<concept>
<code value="231512"/>
<display value="Hermansky-Pudlak syndrome due to BLOC-2 deficiency"/>
</concept>
<concept>
<code value="231531"/>
<display value="Hermansky-Pudlak syndrome due to BLOC-1 deficiency"/>
</concept>
<concept>
<code value="231556"/>
<display
value="Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome"/>
</concept>
<concept>
<code value="231568"/>
<display
value="Autosomal dominant generalized dystrophic epidermolysis bullosa"/>
</concept>
<concept>
<code value="231573"/>
<display value="Congenital erosive and vesicular dermatosis"/>
</concept>
<concept>
<code value="231580"/>
<display value="Primary unilateral adrenal hyperplasia"/>
</concept>
<concept>
<code value="2316"/>
<display value="Johnson neuroectodermal syndrome"/>
</concept>
<concept>
<code value="231625"/>
<display
value="Adrenocortical carcinoma with pure aldosterone hypersecretion"/>
</concept>
<concept>
<code value="231632"/>
<display value="Ectopic aldosterone-producing tumor"/>
</concept>
<concept>
<code value="231662"/>
<display value="Isolated growth hormone deficiency type IA"/>
</concept>
<concept>
<code value="231671"/>
<display value="Isolated growth hormone deficiency type IB"/>
</concept>
<concept>
<code value="231679"/>
<display value="Isolated growth hormone deficiency type II"/>
</concept>
<concept>
<code value="231692"/>
<display value="Isolated growth hormone deficiency type III"/>
</concept>
<concept>
<code value="231720"/>
<display
value="Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"/>
</concept>
<concept>
<code value="231736"/>
<display
value="Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome"/>
</concept>
<concept>
<code value="231742"/>
<display
value="Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"/>
</concept>
<concept>
<code value="2318"/>
<display value="Joubert syndrome with oculorenal defect"/>
</concept>
<concept>
<code value="2319"/>
<display value="Juberg-Hayward syndrome"/>
</concept>
<concept>
<code value="232"/>
<display value="Sickle cell anemia"/>
</concept>
<concept>
<code value="2321"/>
<display value="Jung syndrome"/>
</concept>
<concept>
<code value="2322"/>
<display value="Kabuki syndrome"/>
</concept>
<concept>
<code value="2323"/>
<display value="Sanjad-Sakati syndrome"/>
</concept>
<concept>
<code value="2324"/>
<display
value="Osteopenia-intellectual disability-sparse hair syndrome"/>
</concept>
<concept>
<code value="2325"/>
<display
value="Epidermolysis bullosa simplex with anodontia/hypodontia"/>
</concept>
<concept>
<code value="2326"/>
<display value="Kallmann syndrome-heart disease syndrome"/>
</concept>
<concept>
<code value="2328"/>
<display value="Kapur-Toriello syndrome"/>
</concept>
<concept>
<code value="2329"/>
<display value="Karsch-Neugebauer syndrome"/>
</concept>
<concept>
<code value="233"/>
<display value="Duane retraction syndrome"/>
</concept>
<concept>
<code value="2330"/>
<display value="Kasabach-Merritt phenomenon"/>
</concept>
<concept>
<code value="2331"/>
<display value="Kawasaki disease"/>
</concept>
<concept>
<code value="2332"/>
<display value="KBG syndrome"/>
</concept>
<concept>
<code value="2333"/>
<display value="Kenny-Caffey syndrome"/>
</concept>
<concept>
<code value="2334"/>
<display value="Autosomal dominant keratitis"/>
</concept>
<concept>
<code value="2337"/>
<display value="Diffuse palmoplantar keratoderma, Bothnian type"/>
</concept>
<concept>
<code value="2339"/>
<display
value="Keratosis follicularis-dwarfism-cerebral atrophy syndrome"/>
</concept>
<concept>
<code value="234"/>
<display value="Dubin-Johnson syndrome"/>
</concept>
<concept>
<code value="2340"/>
<display value="Keratosis follicularis spinulosa decalvans"/>
</concept>
<concept>
<code value="2342"/>
<display value="Haim-Munk syndrome"/>
</concept>
<concept>
<code value="2345"/>
<display value="Isolated Klippel-Feil syndrome"/>
</concept>
<concept>
<code value="2347"/>
<display value="Lethal Kniest-like dysplasia"/>
</concept>
<concept>
<code value="2348"/>
<display value="Familial partial lipodystrophy, Dunnigan type"/>
</concept>
<concept>
<code value="2349"/>
<display value="Muscular pseudohypertrophy-hypothyroidism syndrome"/>
</concept>
<concept>
<code value="235"/>
<display value="Dubowitz syndrome"/>
</concept>
<concept>
<code value="2351"/>
<display value="Kousseff syndrome"/>
</concept>
<concept>
<code value="2353"/>
<display value="Schilbach-Rott syndrome"/>
</concept>
<concept>
<code value="2356"/>
<display value="Arachnoid cyst"/>
</concept>
<concept>
<code value="2357"/>
<display value="Bronchogenic cyst"/>
</concept>
<concept>
<code value="236"/>
<display value="Trisomy 9p syndrome"/>
</concept>
<concept>
<code value="2363"/>
<display value="Lacrimoauriculodentodigital syndrome"/>
</concept>
<concept>
<code value="2364"/>
<display
value="Glycogen storage disease due to lactate dehydrogenase deficiency"/>
</concept>
<concept>
<code value="2368"/>
<display value="Gastroschisis"/>
</concept>
<concept>
<code value="2369"/>
<display value="Limb body wall complex"/>
</concept>
<concept>
<code value="237"/>
<display value="Duplication of urethra"/>
</concept>
<concept>
<code value="2370"/>
<display
value="Larsen-like osseous dysplasia-short stature syndrome"/>
</concept>
<concept>
<code value="2371"/>
<display value="Lethal Larsen-like syndrome"/>
</concept>
<concept>
<code value="2372"/>
<display value="Laryngocele"/>
</concept>
<concept>
<code value="2373"/>
<display value="Congenital laryngomalacia"/>
</concept>
<concept>
<code value="2374"/>
<display value="Isolated congenital laryngeal web"/>
</concept>
<concept>
<code value="2375"/>
<display
value="Laryngeal abductor paralysis-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2377"/>
<display value="Laurence-Moon syndrome"/>
</concept>
<concept>
<code value="2378"/>
<display value="Laurin-Sandrow syndrome"/>
</concept>
<concept>
<code value="2379"/>
<display
value="Early-onset parkinsonism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2380"/>
<display value="Legg-Calvé-Perthes disease"/>
</concept>
<concept>
<code value="2382"/>
<display value="Lennox-Gastaut syndrome"/>
</concept>
<concept>
<code value="238269"/>
<display value="AApoAII amyloidosis"/>
</concept>
<concept>
<code value="238305"/>
<display value="Infundibulo-neurohypophysitis"/>
</concept>
<concept>
<code value="238329"/>
<display value="Severe X-linked mitochondrial encephalomyopathy"/>
</concept>
<concept>
<code value="238446"/>
<display value="15q11q13 microduplication syndrome"/>
</concept>
<concept>
<code value="238455"/>
<display value="Infantile dystonia-parkinsonism"/>
</concept>
<concept>
<code value="238459"/>
<display value="SLC35A1-CDG"/>
</concept>
<concept>
<code value="238468"/>
<display value="Hypohidrotic ectodermal dysplasia"/>
</concept>
<concept>
<code value="238475"/>
<display value="Familial hypercholanemia"/>
</concept>
<concept>
<code value="238505"/>
<display value="Combined immunodeficiency due to CD27 deficiency"/>
</concept>
<concept>
<code value="238523"/>
<display value="Atypical hypotonia-cystinuria syndrome"/>
</concept>
<concept>
<code value="238557"/>
<display value="Chuvash erythrocytosis"/>
</concept>
<concept>
<code value="238569"/>
<display
value="Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"/>
</concept>
<concept>
<code value="238578"/>
<display
value="Familial clubfoot due to 17q23.1q23.2 microduplication"/>
</concept>
<concept>
<code value="238583"/>
<display
value="Hyperphenylalaninemia due to tetrahydrobiopterin deficiency"/>
</concept>
<concept>
<code value="238593"/>
<display value="IgG4-related mesenteritis"/>
</concept>
<concept>
<code value="2386"/>
<display
value="Leukoencephalopathy-palmoplantar keratoderma syndrome"/>
</concept>
<concept>
<code value="238606"/>
<display value="Primary orthostatic tremor"/>
</concept>
<concept>
<code value="238613"/>
<display value="Beckwith-Wiedemann syndrome due to NSD1 mutation"/>
</concept>
<concept>
<code value="238621"/>
<display
value="Ileal pouch anal anastomosis related faecal incontinence"/>
</concept>
<concept>
<code value="238624"/>
<display value="Idiopathic intracranial hypertension"/>
</concept>
<concept>
<code value="238637"/>
<display value="Megacystis-megaureter syndrome"/>
</concept>
<concept>
<code value="238642"/>
<display value="Primary megaureter, adult-onset form"/>
</concept>
<concept>
<code value="238646"/>
<display value="Congenital primary megaureter, obstructed form"/>
</concept>
<concept>
<code value="238650"/>
<display value="Congenital primary megaureter, refluxing form"/>
</concept>
<concept>
<code value="238654"/>
<display
value="Congenital primary megaureter, nonrefluxing and unobstructed form"/>
</concept>
<concept>
<code value="238666"/>
<display value="Isolated congenital hypogonadotropic hypogonadism"/>
</concept>
<concept>
<code value="238670"/>
<display value="Isolated thyrotropin-releasing hormone deficiency"/>
</concept>
<concept>
<code value="238688"/>
<display value="Neonatal iodine exposure"/>
</concept>
<concept>
<code value="2387"/>
<display value="Leukonychia totalis"/>
</concept>
<concept>
<code value="238722"/>
<display value="Familial congenital mirror movements"/>
</concept>
<concept>
<code value="238744"/>
<display value="Mammary-digital-nail syndrome"/>
</concept>
<concept>
<code value="238750"/>
<display value="4q21 microdeletion syndrome"/>
</concept>
<concept>
<code value="238763"/>
<display
value="Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"/>
</concept>
<concept>
<code value="238769"/>
<display value="1q44 microdeletion syndrome"/>
</concept>
<concept>
<code value="2388"/>
<display value="Choreoacanthocytosis"/>
</concept>
<concept>
<code value="239"/>
<display value="Dyggve-Melchior-Clausen disease"/>
</concept>
<concept>
<code value="2390"/>
<display value="Lichtenstein syndrome"/>
</concept>
<concept>
<code value="2391"/>
<display value="Congenitally short costocoracoid ligament"/>
</concept>
<concept>
<code value="2394"/>
<display value="Pyruvate dehydrogenase E3 deficiency"/>
</concept>
<concept>
<code value="2396"/>
<display value="Encephalocraniocutaneous lipomatosis"/>
</concept>
<concept>
<code value="2398"/>
<display value="Multiple symmetric lipomatosis"/>
</concept>
<concept>
<code value="2399"/>
<display value="Nasopalpebral lipoma-coloboma syndrome"/>
</concept>
<concept>
<code value="24"/>
<display value="Fumaric aciduria"/>
</concept>
<concept>
<code value="240"/>
<display value="Léri-Weill dyschondrosteosis"/>
</concept>
<concept>
<code value="2400"/>
<display value="Peripheral motor neuropathy-dysautonomia syndrome"/>
</concept>
<concept>
<code value="240071"/>
<display value="Classic progressive supranuclear palsy syndrome"/>
</concept>
<concept>
<code value="240085"/>
<display
value="Progressive supranuclear palsy-predominant parkinsonism syndrome"/>
</concept>
<concept>
<code value="240094"/>
<display
value="Progressive supranuclear palsy-pure akinesia with gait freezing syndrome"/>
</concept>
<concept>
<code value="240103"/>
<display
value="Progressive supranuclear palsy-corticobasal syndrome"/>
</concept>
<concept>
<code value="240112"/>
<display
value="Progressive supranuclear palsy-progressive non-fluent aphasia syndrome"/>
</concept>
<concept>
<code value="2404"/>
<display value="Loiasis"/>
</concept>
<concept>
<code value="2405"/>
<display value="Thickened earlobes-conductive deafness syndrome"/>
</concept>
<concept>
<code value="2406"/>
<display value="Locked-in syndrome"/>
</concept>
<concept>
<code value="2407"/>
<display value="Laryngo-onycho-cutaneous syndrome"/>
</concept>
<concept>
<code value="240760"/>
<display value="Nijmegen breakage syndrome-like disorder"/>
</concept>
<concept>
<code value="2408"/>
<display value="Lowe-Kohn-Cohen syndrome"/>
</concept>
<concept>
<code value="2409"/>
<display value="Lowry-MacLean syndrome"/>
</concept>
<concept>
<code value="241"/>
<display value="Dyschromatosis universalis hereditaria"/>
</concept>
<concept>
<code value="2410"/>
<display value="Hypergonadotropic hypogonadism-cataract syndrome"/>
</concept>
<concept>
<code value="2412"/>
<display value="Dislocation of the hip-dysmorphism syndrome"/>
</concept>
<concept>
<code value="2414"/>
<display value="Congenital pulmonary lymphangiectasia"/>
</concept>
<concept>
<code value="242"/>
<display value="46,XY complete gonadal dysgenesis"/>
</concept>
<concept>
<code value="2420"/>
<display value="Primary pulmonary lymphoma"/>
</concept>
<concept>
<code value="2427"/>
<display value="Macrocephaly-short stature-paraplegia syndrome"/>
</concept>
<concept>
<code value="2429"/>
<display
value="Macrocephaly-spastic paraplegia-dysmorphism syndrome"/>
</concept>
<concept>
<code value="243"/>
<display value="46,XX gonadal dysgenesis"/>
</concept>
<concept>
<code value="2430"/>
<display value="Congenital macroglossia"/>
</concept>
<concept>
<code value="2432"/>
<display value="Macrosomia-microphthalmia-cleft palate syndrome"/>
</concept>
<concept>
<code value="243343"/>
<display value="Dimethylglycine dehydrogenase deficiency"/>
</concept>
<concept>
<code value="243367"/>
<display value="Acute fatty liver of pregnancy"/>
</concept>
<concept>
<code value="2435"/>
<display
value="Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2437"/>
<display value="Czeizel-Losonci syndrome"/>
</concept>
<concept>
<code value="2438"/>
<display value="Hand-foot-genital syndrome"/>
</concept>
<concept>
<code value="2439"/>
<display value="Patterson-Stevenson-Fontaine syndrome"/>
</concept>
<concept>
<code value="244"/>
<display value="Primary ciliary dyskinesia"/>
</concept>
<concept>
<code value="2440"/>
<display value="Isolated split hand-split foot malformation"/>
</concept>
<concept>
<code value="244242"/>
<display value="HELLP syndrome"/>
</concept>
<concept>
<code value="244275"/>
<display
value="De novo thrombotic microangiopathy after kidney transplantation"/>
</concept>
<concept>
<code value="244283"/>
<display value="Biliary atresia with splenic malformation syndrome"/>
</concept>
<concept>
<code value="244305"/>
<display
value="Dominant hypophosphatemia with nephrolithiasis or osteoporosis"/>
</concept>
<concept>
<code value="244310"/>
<display value="RFT1-CDG"/>
</concept>
<concept>
<code value="2444"/>
<display value="Congenital pulmonary airway malformation"/>
</concept>
<concept>
<code value="245"/>
<display value="Nager syndrome"/>
</concept>
<concept>
<code value="2451"/>
<display value="Mucocutaneous venous malformations"/>
</concept>
<concept>
<code value="2456"/>
<display value="Familial supernumerary nipples"/>
</concept>
<concept>
<code value="2457"/>
<display value="Mandibuloacral dysplasia"/>
</concept>
<concept>
<code value="2459"/>
<display value="Mansonelliasis"/>
</concept>
<concept>
<code value="246"/>
<display value="Postaxial acrofacial dysostosis"/>
</concept>
<concept>
<code value="2460"/>
<display value="Van den Ende-Gupta syndrome"/>
</concept>
<concept>
<code value="2461"/>
<display value="Marden-Walker syndrome"/>
</concept>
<concept>
<code value="2462"/>
<display value="Shprintzen-Goldberg syndrome"/>
</concept>
<concept>
<code value="2463"/>
<display
value="Marfanoid habitus-autosomal recessive intellectual disability syndrome"/>
</concept>
<concept>
<code value="2464"/>
<display value="Marfanoid syndrome, De Silva type"/>
</concept>
<concept>
<code value="2466"/>
<display value="MASA syndrome"/>
</concept>
<concept>
<code value="2470"/>
<display value="Matthew-Wood syndrome"/>
</concept>
<concept>
<code value="2471"/>
<display value="McDonough syndrome"/>
</concept>
<concept>
<code value="247165"/>
<display value="Infantile mercury poisoning"/>
</concept>
<concept>
<code value="247198"/>
<display value="Progressive cerebello-cerebral atrophy"/>
</concept>
<concept>
<code value="247203"/>
<display value="Collecting duct carcinoma"/>
</concept>
<concept>
<code value="247234"/>
<display value="Sporadic adult-onset ataxia of unknown etiology"/>
</concept>
<concept>
<code value="247245"/>
<display value="Superficial siderosis"/>
</concept>
<concept>
<code value="247257"/>
<display value="Inhalational anthrax"/>
</concept>
<concept>
<code value="247262"/>
<display value="Hyperphosphatasia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2473"/>
<display value="McKusick-Kaufman syndrome"/>
</concept>
<concept>
<code value="247353"/>
<display value="Generalized pustular psoriasis"/>
</concept>
<concept>
<code value="247378"/>
<display
value="Autosomal recessive secondary polycythemia not associated with VHL gene"/>
</concept>
<concept>
<code value="2475"/>
<display value="White forelock with malformations"/>
</concept>
<concept>
<code value="247511"/>
<display value="Autosomal dominant secondary polycythemia"/>
</concept>
<concept>
<code value="247522"/>
<display
value="Primary ciliary dyskinesia-retinitis pigmentosa syndrome"/>
</concept>
<concept>
<code value="247525"/>
<display value="Citrullinemia type I"/>
</concept>
<concept>
<code value="247546"/>
<display value="Acute neonatal citrullinemia type I"/>
</concept>
<concept>
<code value="247573"/>
<display value="Late-onset citrullinemia type I"/>
</concept>
<concept>
<code value="247585"/>
<display value="Citrullinemia type II"/>
</concept>
<concept>
<code value="247598"/>
<display
value="Neonatal intrahepatic cholestasis due to citrin deficiency"/>
</concept>
<concept>
<code value="2476"/>
<display
value="Dysraphism-cleft lip/palate-limb reduction defects syndrome"/>
</concept>
<concept>
<code value="247604"/>
<display value="Juvenile primary lateral sclerosis"/>
</concept>
<concept>
<code value="247623"/>
<display value="Perinatal lethal hypophosphatasia"/>
</concept>
<concept>
<code value="247638"/>
<display value="Prenatal benign hypophosphatasia"/>
</concept>
<concept>
<code value="247651"/>
<display value="Infantile hypophosphatasia"/>
</concept>
<concept>
<code value="247667"/>
<display value="Childhood-onset hypophosphatasia"/>
</concept>
<concept>
<code value="247676"/>
<display value="Adult hypophosphatasia"/>
</concept>
<concept>
<code value="247685"/>
<display value="Odontohypophosphatasia"/>
</concept>
<concept>
<code value="247691"/>
<display
value="Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"/>
</concept>
<concept>
<code value="247698"/>
<display value="Multiple endocrine neoplasia type 2A"/>
</concept>
<concept>
<code value="2477"/>
<display value="Isolated megalencephaly"/>
</concept>
<concept>
<code value="247709"/>
<display value="Multiple endocrine neoplasia type 2B"/>
</concept>
<concept>
<code value="247718"/>
<display value="Inflammatory myopathy with abundant macrophages"/>
</concept>
<concept>
<code value="247724"/>
<display value="Idiopathic eosinophilic myositis"/>
</concept>
<concept>
<code value="247762"/>
<display value="Lipoblastoma"/>
</concept>
<concept>
<code value="247768"/>
<display value="Müllerian aplasia and hyperandrogenism"/>
</concept>
<concept>
<code value="247775"/>
<display value="Mayer-Rokitansky-Küster-Hauser syndrome type 1"/>
</concept>
<concept>
<code value="247790"/>
<display value="FTH1-related iron overload"/>
</concept>
<concept>
<code value="247794"/>
<display
value="Juvenile cataract-microcornea-renal glucosuria syndrome"/>
</concept>
<concept>
<code value="247798"/>
<display value="MUTYH-related polyposis"/>
</concept>
<concept>
<code value="2478"/>
<display
value="Megalencephalic leukoencephalopathy with subcortical cysts"/>
</concept>
<concept>
<code value="247815"/>
<display value="Autosomal recessive ataxia due to PEX10 deficiency"/>
</concept>
<concept>
<code value="247820"/>
<display
value="Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"/>
</concept>
<concept>
<code value="247827"/>
<display
value="Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome"/>
</concept>
<concept>
<code value="247834"/>
<display value="Occult macular dystrophy"/>
</concept>
<concept>
<code value="247868"/>
<display
value="NLRP12-associated hereditary periodic fever syndrome"/>
</concept>
<concept>
<code value="2479"/>
<display value="Megalocornea-intellectual disability syndrome"/>
</concept>
<concept>
<code value="248"/>
<display
value="Autosomal recessive hypohidrotic ectodermal dysplasia"/>
</concept>
<concept>
<code value="2481"/>
<display value="Neurocutaneous melanocytosis"/>
</concept>
<concept>
<code value="248111"/>
<display value="Juvenile Huntington disease"/>
</concept>
<concept>
<code value="2482"/>
<display value="Melhem-Fahl syndrome"/>
</concept>
<concept>
<code value="2483"/>
<display value="Melkersson-Rosenthal syndrome"/>
</concept>
<concept>
<code value="248340"/>
<display value="Isolated delta-storage pool disease"/>
</concept>
<concept>
<code value="2484"/>
<display value="Melnick-Needles syndrome"/>
</concept>
<concept>
<code value="248408"/>
<display value="Familial hypodysfibrinogenemia"/>
</concept>
<concept>
<code value="2485"/>
<display value="Melorheostosis"/>
</concept>
<concept>
<code value="2487"/>
<display value="Lower limb malformation-hypospadias syndrome"/>
</concept>
<concept>
<code value="2489"/>
<display
value="Upper limb defect-eye and ear abnormalities syndrome"/>
</concept>
<concept>
<code value="249"/>
<display value="Fibrous dysplasia of bone"/>
</concept>
<concept>
<code value="2491"/>
<display value="Müllerian duct anomalies-limb anomalies syndrome"/>
</concept>
<concept>
<code value="2492"/>
<display value="FATCO syndrome"/>
</concept>
<concept>
<code value="2494"/>
<display value="Ménétrier disease"/>
</concept>
<concept>
<code value="2495"/>
<display value="Meningioma"/>
</concept>
<concept>
<code value="2496"/>
<display value="Mesomelia-synostoses syndrome"/>
</concept>
<concept>
<code value="2497"/>
<display value="Upper limb mesomelic dysplasia, type Fryns"/>
</concept>
<concept>
<code value="2498"/>
<display value="Syndactyly type 8"/>
</concept>
<concept>
<code value="2499"/>
<display value="Metachondromatosis"/>
</concept>
<concept>
<code value="25"/>
<display value="Glutaryl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="2500"/>
<display value="Acrogeria"/>
</concept>
<concept>
<code value="2501"/>
<display value="Metaphyseal chondrodysplasia, Spahr type"/>
</concept>
<concept>
<code value="2502"/>
<display
value="Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"/>
</concept>
<concept>
<code value="2504"/>
<display
value="Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"/>
</concept>
<concept>
<code value="2505"/>
<display
value="Multiple benign circumferential skin creases on limbs"/>
</concept>
<concept>
<code value="2508"/>
<display
value="Corpus callosum agenesis-abnormal genitalia syndrome"/>
</concept>
<concept>
<code value="250831"/>
<display value="Logopenic progressive aphasia"/>
</concept>
<concept>
<code value="250923"/>
<display value="Isolated aniridia"/>
</concept>
<concept>
<code value="250932"/>
<display
value="Autosomal dominant optic atrophy and peripheral neuropathy"/>
</concept>
<concept>
<code value="250972"/>
<display value="Polymicrogyria with optic nerve hypoplasia"/>
</concept>
<concept>
<code value="250977"/>
<display value="AICA-ribosiduria"/>
</concept>
<concept>
<code value="250984"/>
<display value="Autosomal recessive Stickler syndrome"/>
</concept>
<concept>
<code value="250989"/>
<display value="1q21.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="250994"/>
<display value="1q21.1 microduplication syndrome"/>
</concept>
<concept>
<code value="250999"/>
<display value="1q41q42 microdeletion syndrome"/>
</concept>
<concept>
<code value="2510"/>
<display value="Micro syndrome"/>
</concept>
<concept>
<code value="251004"/>
<display
value="Paternal uniparental disomy of chromosome 1 syndrome"/>
</concept>
<concept>
<code value="251009"/>
<display
value="Maternal uniparental disomy of chromosome 1 syndrome"/>
</concept>
<concept>
<code value="251014"/>
<display value="2q31.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="251019"/>
<display value="2q32q33 deletion syndrome"/>
</concept>
<concept>
<code value="251028"/>
<display
value="SATB2-associated syndrome due to a chromosomal rearrangement"/>
</concept>
<concept>
<code value="251038"/>
<display value="3q29 microduplication syndrome"/>
</concept>
<concept>
<code value="251043"/>
<display value="Ring chromosome 5 syndrome"/>
</concept>
<concept>
<code value="251046"/>
<display value="6p22 microdeletion syndrome"/>
</concept>
<concept>
<code value="251056"/>
<display value="6q25.2q25.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="251061"/>
<display value="7q31 microdeletion syndrome"/>
</concept>
<concept>
<code value="251066"/>
<display value="8p11.2 deletion syndrome"/>
</concept>
<concept>
<code value="251071"/>
<display value="8p23.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="251076"/>
<display value="8p23.1 duplication syndrome"/>
</concept>
<concept>
<code value="2511"/>
<display value="Microbrachycephaly-ptosis-cleft lip syndrome"/>
</concept>
<concept>
<code value="2512"/>
<display value="Autosomal recessive primary microcephaly"/>
</concept>
<concept>
<code value="251262"/>
<display value="Familial osteochondritis dissecans"/>
</concept>
<concept>
<code value="251274"/>
<display value="Familial hyperaldosteronism type III"/>
</concept>
<concept>
<code value="251279"/>
<display
value="Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"/>
</concept>
<concept>
<code value="251282"/>
<display value="Autosomal dominant spastic ataxia type 1"/>
</concept>
<concept>
<code value="251287"/>
<display value="Benign concentric annular macular dystrophy"/>
</concept>
<concept>
<code value="251290"/>
<display value="Parietal foramina with clavicular hypoplasia"/>
</concept>
<concept>
<code value="251295"/>
<display value="Pigmented paravenous retinochoroidal atrophy"/>
</concept>
<concept>
<code value="2513"/>
<display value="Microcephaly-albinism-digital anomalies syndrome"/>
</concept>
<concept>
<code value="251304"/>
<display
value="Infantile onset panniculitis with uveitis and systemic granulomatosis"/>
</concept>
<concept>
<code value="251307"/>
<display value="Idiopathic recurrent pericarditis"/>
</concept>
<concept>
<code value="251325"/>
<display value="Drug-induced vasculitis"/>
</concept>
<concept>
<code value="251328"/>
<display value="Unclassified vasculitis"/>
</concept>
<concept>
<code value="251332"/>
<display
value="Unexplained long-lasting fever/inflammatory syndrome"/>
</concept>
<concept>
<code value="251347"/>
<display value="Ataxia-telangiectasia-like disorder"/>
</concept>
<concept>
<code value="251359"/>
<display value="Sickle cell-beta-thalassemia disease syndrome"/>
</concept>
<concept>
<code value="251365"/>
<display value="Sickle cell S-C disease"/>
</concept>
<concept>
<code value="251370"/>
<display value="Sickle cell S-D Punjab disease"/>
</concept>
<concept>
<code value="251375"/>
<display value="Sickle cell S-E disease"/>
</concept>
<concept>
<code value="251380"/>
<display
value="Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"/>
</concept>
<concept>
<code value="251383"/>
<display value="CK syndrome"/>
</concept>
<concept>
<code value="251393"/>
<display value="Localized junctional epidermolysis bullosa"/>
</concept>
<concept>
<code value="2514"/>
<display value="Autosomal dominant primary microcephaly"/>
</concept>
<concept>
<code value="2515"/>
<display value="Microcephaly-cardiomyopathy syndrome"/>
</concept>
<concept>
<code value="251510"/>
<display value="46,XY partial gonadal dysgenesis"/>
</concept>
<concept>
<code value="251515"/>
<display value="Distal arthrogryposis type 10"/>
</concept>
<concept>
<code value="251523"/>
<display value="Hyperzincemia and hypercalprotectinemia"/>
</concept>
<concept>
<code value="251576"/>
<display value="Gliosarcoma"/>
</concept>
<concept>
<code value="251579"/>
<display value="Giant cell glioblastoma"/>
</concept>
<concept>
<code value="251582"/>
<display value="Gliomatosis cerebri"/>
</concept>
<concept>
<code value="251589"/>
<display value="Anaplastic astrocytoma"/>
</concept>
<concept>
<code value="251595"/>
<display value="Diffuse astrocytoma"/>
</concept>
<concept>
<code value="251598"/>
<display value="Protoplasmic astrocytoma"/>
</concept>
<concept>
<code value="2516"/>
<display
value="Microcephaly-cardiac defect-lung malsegmentation syndrome"/>
</concept>
<concept>
<code value="251601"/>
<display value="Fibrillary astrocytoma"/>
</concept>
<concept>
<code value="251604"/>
<display value="Gemistocytic astrocytoma"/>
</concept>
<concept>
<code value="251607"/>
<display value="Pleomorphic xanthoastrocytoma"/>
</concept>
<concept>
<code value="251612"/>
<display value="Pilocytic astrocytoma"/>
</concept>
<concept>
<code value="251615"/>
<display value="Pilomyxoid astrocytoma"/>
</concept>
<concept>
<code value="251618"/>
<display value="Subependymal giant cell astrocytoma"/>
</concept>
<concept>
<code value="251623"/>
<display value="Pituicytoma"/>
</concept>
<concept>
<code value="251627"/>
<display value="Oligodendroglioma"/>
</concept>
<concept>
<code value="251630"/>
<display value="Anaplastic oligodendroglioma"/>
</concept>
<concept>
<code value="251636"/>
<display value="Ependymoma"/>
</concept>
<concept>
<code value="251639"/>
<display value="Subependymoma"/>
</concept>
<concept>
<code value="251643"/>
<display value="Myxopapillary ependymoma"/>
</concept>
<concept>
<code value="251646"/>
<display value="Anaplastic ependymoma"/>
</concept>
<concept>
<code value="251656"/>
<display value="Oligoastrocytoma"/>
</concept>
<concept>
<code value="251663"/>
<display value="Anaplastic oligoastrocytoma"/>
</concept>
<concept>
<code value="251671"/>
<display value="Angiocentric glioma"/>
</concept>
<concept>
<code value="251674"/>
<display value="Chordoid glioma"/>
</concept>
<concept>
<code value="251679"/>
<display value="Astroblastoma"/>
</concept>
<concept>
<code value="2518"/>
<display
value="Autosomal recessive chorioretinopathy-microcephaly syndrome"/>
</concept>
<concept>
<code value="251855"/>
<display value="Anaplastic/large cell medulloblastoma"/>
</concept>
<concept>
<code value="251858"/>
<display value="Medulloblastoma with extensive nodularity"/>
</concept>
<concept>
<code value="251863"/>
<display value="Desmoplastic/nodular medulloblastoma"/>
</concept>
<concept>
<code value="251867"/>
<display value="Classic medulloblastoma"/>
</concept>
<concept>
<code value="251877"/>
<display value="Ganglioneuroblastoma"/>
</concept>
<concept>
<code value="251899"/>
<display value="Choroid plexus carcinoma"/>
</concept>
<concept>
<code value="2519"/>
<display
value="Microcephaly-seizures-intellectual disability-heart disease syndrome"/>
</concept>
<concept>
<code value="251902"/>
<display value="Atypical papilloma of choroid plexus"/>
</concept>
<concept>
<code value="251909"/>
<display value="Pineoblastoma"/>
</concept>
<concept>
<code value="251912"/>
<display value="Pineocytoma"/>
</concept>
<concept>
<code value="251915"/>
<display value="Papillary tumor of the pineal region"/>
</concept>
<concept>
<code value="251919"/>
<display
value="Pineal parenchymal tumor of intermediate differentiation"/>
</concept>
<concept>
<code value="251927"/>
<display value="Extraventricular neurocytoma"/>
</concept>
<concept>
<code value="251931"/>
<display value="Cerebellar liponeurocytoma"/>
</concept>
<concept>
<code value="251937"/>
<display value="Gangliocytoma"/>
</concept>
<concept>
<code value="251940"/>
<display value="Desmoplastic infantile astrocytoma/ganglioglioma"/>
</concept>
<concept>
<code value="251946"/>
<display value="Dysembryoplastic neuroepithelial tumor"/>
</concept>
<concept>
<code value="251949"/>
<display value="Ganglioglioma"/>
</concept>
<concept>
<code value="251957"/>
<display value="Anaplastic ganglioglioma"/>
</concept>
<concept>
<code value="251962"/>
<display value="Papillary glioneuronal tumor"/>
</concept>
<concept>
<code value="251975"/>
<display value="Rosette-forming glioneuronal tumor"/>
</concept>
<concept>
<code value="251992"/>
<display value="Ganglioneuroma"/>
</concept>
<concept>
<code value="252006"/>
<display value="Yolk sac tumor of central nervous system"/>
</concept>
<concept>
<code value="252015"/>
<display value="Choriocarcinoma of the central nervous system"/>
</concept>
<concept>
<code value="252018"/>
<display value="Teratoma of the central nervous system"/>
</concept>
<concept>
<code value="252021"/>
<display value="Mixed germ cell tumor of central nervous system"/>
</concept>
<concept>
<code value="252031"/>
<display value="Diffuse leptomeningeal melanocytosis"/>
</concept>
<concept>
<code value="252046"/>
<display value="Meningeal melanocytoma"/>
</concept>
<concept>
<code value="252050"/>
<display value="Primary melanoma of the central nervous system"/>
</concept>
<concept>
<code value="252054"/>
<display value="Hemangioblastoma"/>
</concept>
<concept>
<code value="2521"/>
<display
value="Microcephaly-cleft palate-abnormal retinal pigmentation syndrome"/>
</concept>
<concept>
<code value="252128"/>
<display
value="Malignant peripheral nerve sheath tumor with perineurial differentiation"/>
</concept>
<concept>
<code value="252164"/>
<display value="Benign schwannoma"/>
</concept>
<concept>
<code value="252175"/>
<display value="Vestibular schwannoma"/>
</concept>
<concept>
<code value="252183"/>
<display value="Neurofibroma"/>
</concept>
<concept>
<code value="2522"/>
<display
value="Microcephaly-cervical spine fusion anomalies syndrome"/>
</concept>
<concept>
<code value="252202"/>
<display value="Constitutional mismatch repair deficiency syndrome"/>
</concept>
<concept>
<code value="252206"/>
<display value="Melanoma and neural system tumor syndrome"/>
</concept>
<concept>
<code value="252212"/>
<display value="Malignant triton tumor"/>
</concept>
<concept>
<code value="2523"/>
<display
value="Microcephaly-brain defect-spasticity-hypernatremia syndrome"/>
</concept>
<concept>
<code value="2524"/>
<display value="Pontocerebellar hypoplasia type 2"/>
</concept>
<concept>
<code value="2526"/>
<display value="Microcephaly-lymphedema-chorioretinopathy syndrome"/>
</concept>
<concept>
<code value="2528"/>
<display value="Microcephaly-microcornea syndrome, Seemanova type"/>
</concept>
<concept>
<code value="2533"/>
<display
value="Microcephaly-deafness-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2536"/>
<display
value="Microcornea-glaucoma-absent frontal sinuses syndrome"/>
</concept>
<concept>
<code value="2538"/>
<display value="Microgastria-limb reduction defect syndrome"/>
</concept>
<concept>
<code value="254334"/>
<display
value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"/>
</concept>
<concept>
<code value="254343"/>
<display
value="Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"/>
</concept>
<concept>
<code value="254346"/>
<display value="19p13.12 microdeletion syndrome"/>
</concept>
<concept>
<code value="254351"/>
<display value="Distal 7q11.23 microdeletion syndrome"/>
</concept>
<concept>
<code value="254361"/>
<display value="Plectin-related limb-girdle muscular dystrophy R17"/>
</concept>
<concept>
<code value="254379"/>
<display value="Linear lichen planus"/>
</concept>
<concept>
<code value="254395"/>
<display value="Actinic lichen planus"/>
</concept>
<concept>
<code value="254411"/>
<display value="Annular atrophic lichen planus"/>
</concept>
<concept>
<code value="254424"/>
<display value="Annular lichen planus"/>
</concept>
<concept>
<code value="254449"/>
<display value="Atrophic lichen planus"/>
</concept>
<concept>
<code value="254463"/>
<display value="Lichen planus pigmentosus"/>
</concept>
<concept>
<code value="254478"/>
<display value="Lichen planus pemphigoides"/>
</concept>
<concept>
<code value="254492"/>
<display value="Frontal fibrosing alopecia"/>
</concept>
<concept>
<code value="254504"/>
<display value="Inhalational botulism"/>
</concept>
<concept>
<code value="254509"/>
<display value="Iatrogenic botulism"/>
</concept>
<concept>
<code value="254516"/>
<display value="Temple syndrome"/>
</concept>
<concept>
<code value="254519"/>
<display value="Kagami-Ogata syndrome"/>
</concept>
<concept>
<code value="254525"/>
<display
value="Temple syndrome due to paternal 14q32.2 microdeletion"/>
</concept>
<concept>
<code value="254528"/>
<display
value="Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"/>
</concept>
<concept>
<code value="254531"/>
<display
value="Temple syndrome due to paternal 14q32.2 hypomethylation"/>
</concept>
<concept>
<code value="254534"/>
<display
value="Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"/>
</concept>
<concept>
<code value="254688"/>
<display value="Complete hydatidiform mole"/>
</concept>
<concept>
<code value="254693"/>
<display value="Partial hydatidiform mole"/>
</concept>
<concept>
<code value="254698"/>
<display value="Epithelioid trophoblastic tumor"/>
</concept>
<concept>
<code value="2547"/>
<display value="Microphthalmia-microtia-fetal akinesia syndrome"/>
</concept>
<concept>
<code value="254704"/>
<display value="Genetic hyperferritinemia without iron overload"/>
</concept>
<concept>
<code value="254851"/>
<display value="Mitochondrial DNA-related dystonia"/>
</concept>
<concept>
<code value="254854"/>
<display value="Pure mitochondrial myopathy"/>
</concept>
<concept>
<code value="254857"/>
<display value="Lethal infantile mitochondrial myopathy"/>
</concept>
<concept>
<code value="254864"/>
<display
value="Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"/>
</concept>
<concept>
<code value="254875"/>
<display
value="Mitochondrial DNA depletion syndrome, myopathic form"/>
</concept>
<concept>
<code value="254881"/>
<display value="Spinocerebellar ataxia with epilepsy"/>
</concept>
<concept>
<code value="254886"/>
<display
value="Autosomal recessive progressive external ophthalmoplegia"/>
</concept>
<concept>
<code value="254892"/>
<display
value="Autosomal dominant progressive external ophthalmoplegia"/>
</concept>
<concept>
<code value="254898"/>
<display
value="Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"/>
</concept>
<concept>
<code value="2549"/>
<display value="Oculoauriculovertebral spectrum with radial defects"/>
</concept>
<concept>
<code value="254902"/>
<display
value="Renal tubulopathy-encephalopathy-liver failure syndrome"/>
</concept>
<concept>
<code value="254905"/>
<display value="Isolated cytochrome C oxidase deficiency"/>
</concept>
<concept>
<code value="254913"/>
<display value="Isolated ATP synthase deficiency"/>
</concept>
<concept>
<code value="254920"/>
<display value="Combined oxidative phosphorylation defect type 2"/>
</concept>
<concept>
<code value="254925"/>
<display value="Combined oxidative phosphorylation defect type 4"/>
</concept>
<concept>
<code value="254930"/>
<display value="Combined oxidative phosphorylation defect type 7"/>
</concept>
<concept>
<code value="2551"/>
<display value="Microspherophakia-metaphyseal dysplasia syndrome"/>
</concept>
<concept>
<code value="255132"/>
<display
value="Adult-onset autosomal recessive sideroblastic anemia"/>
</concept>
<concept>
<code value="255138"/>
<display value="Pyruvate dehydrogenase E1-beta deficiency"/>
</concept>
<concept>
<code value="255182"/>
<display
value="Pyruvate dehydrogenase E3-binding protein deficiency"/>
</concept>
<concept>
<code value="2552"/>
<display value="Microsporidiosis"/>
</concept>
<concept>
<code value="255210"/>
<display value="Mitochondrial DNA-associated Leigh syndrome"/>
</concept>
<concept>
<code value="255229"/>
<display value="Navajo neurohepatopathy"/>
</concept>
<concept>
<code value="255235"/>
<display
value="Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"/>
</concept>
<concept>
<code value="2554"/>
<display value="Ear-patella-short stature syndrome"/>
</concept>
<concept>
<code value="2556"/>
<display value="Microphthalmia with linear skin defects syndrome"/>
</concept>
<concept>
<code value="2557"/>
<display value="Mietens syndrome"/>
</concept>
<concept>
<code value="2558"/>
<display value="Mikati-Najjar-Sahli syndrome"/>
</concept>
<concept>
<code value="256"/>
<display value="Early-onset generalized limb-onset dystonia"/>
</concept>
<concept>
<code value="2560"/>
<display
value="Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"/>
</concept>
<concept>
<code value="2561"/>
<display value="Pyramidal molars-abnormal upper lip syndrome"/>
</concept>
<concept>
<code value="2563"/>
<display value="MOMO syndrome"/>
</concept>
<concept>
<code value="2564"/>
<display value="Tetramelic monodactyly"/>
</concept>
<concept>
<code value="2565"/>
<display value="Mononen-Karnes-Senac syndrome"/>
</concept>
<concept>
<code value="2566"/>
<display value="Chronic Epstein-Barr virus infection syndrome"/>
</concept>
<concept>
<code value="257"/>
<display
value="Epidermolysis bullosa simplex with muscular dystrophy"/>
</concept>
<concept>
<code value="2570"/>
<display
value="Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome"/>
</concept>
<concept>
<code value="2571"/>
<display value="X-linked immunoneurologic disorder"/>
</concept>
<concept>
<code value="2572"/>
<display value="Spastic ataxia-corneal dystrophy syndrome"/>
</concept>
<concept>
<code value="2573"/>
<display value="Moyamoya disease"/>
</concept>
<concept>
<code value="2574"/>
<display value="Moynahan syndrome"/>
</concept>
<concept>
<code value="2575"/>
<display
value="Cystic fibrosis-gastritis-megaloblastic anemia syndrome"/>
</concept>
<concept>
<code value="2576"/>
<display value="Mulibrey nanism"/>
</concept>
<concept>
<code value="2578"/>
<display value="Mayer-Rokitansky-Küster-Hauser syndrome type 2"/>
</concept>
<concept>
<code value="2579"/>
<display
value="Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"/>
</concept>
<concept>
<code value="258"/>
<display
value="Laminin subunit alpha 2-related congenital muscular dystrophy"/>
</concept>
<concept>
<code value="2582"/>
<display
value="Myalgia-eosinophilia syndrome associated with tryptophan"/>
</concept>
<concept>
<code value="2583"/>
<display value="Mycetoma"/>
</concept>
<concept>
<code value="2584"/>
<display value="Classic mycosis fungoides"/>
</concept>
<concept>
<code value="2585"/>
<display value="Ataxia-pancytopenia syndrome"/>
</concept>
<concept>
<code value="2587"/>
<display value="Myeloperoxidase deficiency"/>
</concept>
<concept>
<code value="2588"/>
<display value="Myhre syndrome"/>
</concept>
<concept>
<code value="2589"/>
<display value="Myoclonus-cerebellar ataxia-deafness syndrome"/>
</concept>
<concept>
<code value="2590"/>
<display
value="Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"/>
</concept>
<concept>
<code value="2591"/>
<display value="Infantile myofibromatosis"/>
</concept>
<concept>
<code value="2593"/>
<display value="Tubular aggregate myopathy"/>
</concept>
<concept>
<code value="2596"/>
<display value="Myopathy and diabetes mellitus"/>
</concept>
<concept>
<code value="25968"/>
<display value="Self-limited childhood occipital epilepsy"/>
</concept>
<concept>
<code value="2597"/>
<display
value="Mitochondrial myopathy-lactic acidosis-deafness syndrome"/>
</concept>
<concept>
<code value="2598"/>
<display value="Mitochondrial myopathy and sideroblastic anemia"/>
</concept>
<concept>
<code value="25980"/>
<display value="X-linked myopathy with excessive autophagy"/>
</concept>
<concept>
<code value="26"/>
<display value="Methylmalonic acidemia with homocystinuria"/>
</concept>
<concept>
<code value="260305"/>
<display value="Autosomal recessive sideroblastic anemia"/>
</concept>
<concept>
<code value="2604"/>
<display value="Familial visceral myopathy"/>
</concept>
<concept>
<code value="2608"/>
<display value="N syndrome"/>
</concept>
<concept>
<code value="2609"/>
<display value="Isolated complex I deficiency"/>
</concept>
<concept>
<code value="261"/>
<display value="Emery-Dreifuss muscular dystrophy"/>
</concept>
<concept>
<code value="26106"/>
<display value="Hereditary diffuse gastric cancer"/>
</concept>
<concept>
<code value="2611"/>
<display value="Linear verrucous nevus syndrome"/>
</concept>
<concept>
<code value="261102"/>
<display value="Distal 7q11.23 microduplication syndrome"/>
</concept>
<concept>
<code value="261112"/>
<display value="Monosomy 9p syndrome"/>
</concept>
<concept>
<code value="261120"/>
<display value="14q11.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="261144"/>
<display value="FOXG1 syndrome due to 14q12 microdeletion"/>
</concept>
<concept>
<code value="261183"/>
<display value="15q11.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="261190"/>
<display
value="Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion"/>
</concept>
<concept>
<code value="261197"/>
<display value="Proximal 16p11.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="2612"/>
<display value="Linear nevus sebaceus syndrome"/>
</concept>
<concept>
<code value="261204"/>
<display value="16p11.2p12.2 microduplication syndrome"/>
</concept>
<concept>
<code value="261211"/>
<display value="16p11.2p12.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="261222"/>
<display value="Distal 16p11.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="261229"/>
<display value="14q11.2 microduplication syndrome"/>
</concept>
<concept>
<code value="261236"/>
<display value="16p13.11 microdeletion syndrome"/>
</concept>
<concept>
<code value="261243"/>
<display value="16p13.11 microduplication syndrome"/>
</concept>
<concept>
<code value="261250"/>
<display value="16q24.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="261257"/>
<display value="Distal 17p13.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="261265"/>
<display value="17q12 microdeletion syndrome"/>
</concept>
<concept>
<code value="261272"/>
<display value="17q12 microduplication syndrome"/>
</concept>
<concept>
<code value="261279"/>
<display value="17q23.1q23.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="261290"/>
<display value="Trisomy 17p syndrome"/>
</concept>
<concept>
<code value="261295"/>
<display value="20p12.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="2613"/>
<display value="Nail-patella-like renal disease"/>
</concept>
<concept>
<code value="261304"/>
<display value="Paternal 20q13.2q13.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="261311"/>
<display value="20q13.33 microdeletion syndrome"/>
</concept>
<concept>
<code value="261318"/>
<display value="Trisomy 20p syndrome"/>
</concept>
<concept>
<code value="261323"/>
<display value="21q22.11q22.12 microdeletion syndrome"/>
</concept>
<concept>
<code value="261330"/>
<display value="Distal 22q11.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="261337"/>
<display value="Distal 22q11.2 microduplication syndrome"/>
</concept>
<concept>
<code value="261344"/>
<display value="Trisomy 1q syndrome"/>
</concept>
<concept>
<code value="261349"/>
<display value="2p15p16.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="26137"/>
<display value="Juvenile temporal arteritis"/>
</concept>
<concept>
<code value="2614"/>
<display value="Nail-patella syndrome"/>
</concept>
<concept>
<code value="261476"/>
<display value="Xp21 deletion syndrome"/>
</concept>
<concept>
<code value="261483"/>
<display value="Xq27.3q28 duplication syndrome"/>
</concept>
<concept>
<code value="261494"/>
<display value="Kleefstra syndrome"/>
</concept>
<concept>
<code value="261501"/>
<display value="Atypical Norrie disease due to Xp11.3 microdeletion"/>
</concept>
<concept>
<code value="261519"/>
<display
value="Maternal uniparental disomy of chromosome X syndrome"/>
</concept>
<concept>
<code value="261524"/>
<display
value="Paternal uniparental disomy of chromosome X syndrome"/>
</concept>
<concept>
<code value="261529"/>
<display value="Ring chromosome Y syndrome"/>
</concept>
<concept>
<code value="261534"/>
<display value="49,XXXYY syndrome"/>
</concept>
<concept>
<code value="261537"/>
<display value="Mowat-Wilson syndrome due to monosomy 2q22"/>
</concept>
<concept>
<code value="261552"/>
<display value="Mowat-Wilson syndrome due to a ZEB2 point mutation"/>
</concept>
<concept>
<code value="261584"/>
<display value="5q22 microdeletion syndrome"/>
</concept>
<concept>
<code value="2616"/>
<display value="3M syndrome"/>
</concept>
<concept>
<code value="261600"/>
<display value="Alagille syndrome due to 20p12 microdeletion"/>
</concept>
<concept>
<code value="261619"/>
<display value="Alagille syndrome due to a JAG1 point mutation"/>
</concept>
<concept>
<code value="261629"/>
<display value="Alagille syndrome due to a NOTCH2 point mutation"/>
</concept>
<concept>
<code value="261638"/>
<display value="Okihiro syndrome due to 20q13 microdeletion"/>
</concept>
<concept>
<code value="261647"/>
<display value="Okihiro syndrome due to a point mutation"/>
</concept>
<concept>
<code value="261652"/>
<display value="Kleefstra syndrome due to a point mutation"/>
</concept>
<concept>
<code value="2617"/>
<display value="Microcephalic primordial dwarfism, Montreal type"/>
</concept>
<concept>
<code value="2619"/>
<display value="Brachydactylous dwarfism, Mseleni type"/>
</concept>
<concept>
<code value="2623"/>
<display value="Geleophysic dysplasia"/>
</concept>
<concept>
<code value="2631"/>
<display
value="Mesomelic dwarfism-cleft palate-camptodactyly syndrome"/>
</concept>
<concept>
<code value="2632"/>
<display value="Langer mesomelic dysplasia"/>
</concept>
<concept>
<code value="263297"/>
<display
value="Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"/>
</concept>
<concept>
<code value="2633"/>
<display value="Mesomelic dysplasia, Nievergelt type"/>
</concept>
<concept>
<code value="263310"/>
<display value="Thymoma type A"/>
</concept>
<concept>
<code value="263317"/>
<display value="Thymoma type B"/>
</concept>
<concept>
<code value="263324"/>
<display value="Thymoma type AB"/>
</concept>
<concept>
<code value="263331"/>
<display value="Well-differentiated thymic neuroendocrine carcinoma"/>
</concept>
<concept>
<code value="263335"/>
<display
value="Moderately-differentiated thymic neuroendocrine carcinoma"/>
</concept>
<concept>
<code value="263339"/>
<display
value="Poorly differentiated thymic neuroendocrine carcinoma"/>
</concept>
<concept>
<code value="263347"/>
<display value="MRCS syndrome"/>
</concept>
<concept>
<code value="263352"/>
<display value="Postcardiotomy right ventricular failure"/>
</concept>
<concept>
<code value="2634"/>
<display value="Mesomelic dwarfism, Reinhardt-Pfeiffer type"/>
</concept>
<concept>
<code value="263410"/>
<display
value="Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"/>
</concept>
<concept>
<code value="263413"/>
<display value="Angiosarcoma"/>
</concept>
<concept>
<code value="263425"/>
<display value="Nevus of Ota"/>
</concept>
<concept>
<code value="263432"/>
<display value="Nevus of Ito"/>
</concept>
<concept>
<code value="263435"/>
<display value="Congenital smooth muscle hamartoma"/>
</concept>
<concept>
<code value="263455"/>
<display value="Congenital hyperinsulinism due to HNF4A deficiency"/>
</concept>
<concept>
<code value="263458"/>
<display value="Hyperinsulinism due to INSR deficiency"/>
</concept>
<concept>
<code value="263463"/>
<display value="CHST3-related skeletal dysplasia"/>
</concept>
<concept>
<code value="263479"/>
<display value="Fuchs heterochromic iridocyclitis"/>
</concept>
<concept>
<code value="26348"/>
<display value="Acquired prothrombin deficiency"/>
</concept>
<concept>
<code value="263482"/>
<display value="Spondyloepimetaphyseal dysplasia, Maroteaux type"/>
</concept>
<concept>
<code value="263487"/>
<display value="COG5-CDG"/>
</concept>
<concept>
<code value="26349"/>
<display value="Protein S acquired deficiency"/>
</concept>
<concept>
<code value="263494"/>
<display value="DPM3-CDG"/>
</concept>
<concept>
<code value="2635"/>
<display value="Metatropic dysplasia"/>
</concept>
<concept>
<code value="263501"/>
<display value="COG4-CDG"/>
</concept>
<concept>
<code value="263508"/>
<display value="COG1-CDG"/>
</concept>
<concept>
<code value="263516"/>
<display value="Progressive myoclonic epilepsy type 3"/>
</concept>
<concept>
<code value="263524"/>
<display value="Acute necrotizing encephalopathy of childhood"/>
</concept>
<concept>
<code value="263534"/>
<display value="Acral peeling skin syndrome"/>
</concept>
<concept>
<code value="263543"/>
<display value="Generalized peeling skin syndrome"/>
</concept>
<concept>
<code value="263548"/>
<display value="Peeling skin syndrome type A"/>
</concept>
<concept>
<code value="263553"/>
<display value="Peeling skin syndrome type B"/>
</concept>
<concept>
<code value="2636"/>
<display
value="Microcephalic osteodysplastic primordial dwarfism types I and III"/>
</concept>
<concept>
<code value="263662"/>
<display value="Familial multiple meningioma"/>
</concept>
<concept>
<code value="263665"/>
<display value="NK-cell enteropathy"/>
</concept>
<concept>
<code value="2637"/>
<display
value="Microcephalic osteodysplastic primordial dwarfism type II"/>
</concept>
<concept>
<code value="2639"/>
<display value="Fibular aplasia-complex brachydactyly syndrome"/>
</concept>
<concept>
<code value="264200"/>
<display value="14q22q23 microdeletion syndrome"/>
</concept>
<concept>
<code value="2643"/>
<display value="Microcephalic primordial dwarfism, Toriello type"/>
</concept>
<concept>
<code value="264450"/>
<display value="Trisomy 8p syndrome"/>
</concept>
<concept>
<code value="2645"/>
<display value="Osteoglosphonic dysplasia"/>
</concept>
<concept>
<code value="264580"/>
<display
value="Glycogen storage disease due to liver phosphorylase kinase deficiency"/>
</concept>
<concept>
<code value="264675"/>
<display value="Hereditary pulmonary alveolar proteinosis"/>
</concept>
<concept>
<code value="264688"/>
<display value="Congenital chylothorax"/>
</concept>
<concept>
<code value="264691"/>
<display value="Isolated pulmonary capillaritis"/>
</concept>
<concept>
<code value="264978"/>
<display
value="Drug or radiation exposure-related interstitial lung disease"/>
</concept>
<concept>
<code value="2655"/>
<display value="Thanatophoric dysplasia"/>
</concept>
<concept>
<code value="2658"/>
<display value="Lenz-Majewski hyperostotic dwarfism"/>
</concept>
<concept>
<code value="2662"/>
<display value="Keipert syndrome"/>
</concept>
<concept>
<code value="2663"/>
<display value="Nathalie syndrome"/>
</concept>
<concept>
<code value="2665"/>
<display value="Congenital mesoblastic nephroma"/>
</concept>
<concept>
<code value="2666"/>
<display
value="Adult familial nephronophthisis-spastic quadriparesia syndrome"/>
</concept>
<concept>
<code value="2668"/>
<display value="Nephropathy-deafness-hyperparathyroidism syndrome"/>
</concept>
<concept>
<code value="2669"/>
<display
value="Nephrosis-deafness-urinary tract-digital malformations syndrome"/>
</concept>
<concept>
<code value="267"/>
<display value="Calpain-3-related limb-girdle muscular dystrophy R1"/>
</concept>
<concept>
<code value="2670"/>
<display value="Pierson syndrome"/>
</concept>
<concept>
<code value="2671"/>
<display value="Neu-Laxova syndrome"/>
</concept>
<concept>
<code value="2672"/>
<display value="Neuhauser-Eichner-Opitz syndrome"/>
</concept>
<concept>
<code value="2673"/>
<display value="Neurofaciodigitorenal syndrome"/>
</concept>
<concept>
<code value="2674"/>
<display value="Cyprus facial-neuromusculoskeletal syndrome"/>
</concept>
<concept>
<code value="2678"/>
<display value="Familial isolated café-au-lait macules"/>
</concept>
<concept>
<code value="26790"/>
<display value="Pseudomyxoma peritonei"/>
</concept>
<concept>
<code value="26791"/>
<display value="Multiple acyl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="26792"/>
<display value="Short chain acyl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="26793"/>
<display value="Very long chain acyl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="268"/>
<display value="Dysferlin-related limb-girdle muscular dystrophy R2"/>
</concept>
<concept>
<code value="2680"/>
<display value="Hypomyelination neuropathy-arthrogryposis syndrome"/>
</concept>
<concept>
<code value="268114"/>
<display
value="RAS-associated autoimmune leukoproliferative disease"/>
</concept>
<concept>
<code value="268129"/>
<display value="Spheroid body myopathy"/>
</concept>
<concept>
<code value="268139"/>
<display value="Intraocular medulloepithelioma"/>
</concept>
<concept>
<code value="268145"/>
<display value="Classic maple syrup urine disease"/>
</concept>
<concept>
<code value="268162"/>
<display value="Intermediate maple syrup urine disease"/>
</concept>
<concept>
<code value="268173"/>
<display value="Intermittent maple syrup urine disease"/>
</concept>
<concept>
<code value="268184"/>
<display value="Thiamine-responsive maple syrup urine disease"/>
</concept>
<concept>
<code value="268249"/>
<display value="Mycophenolate mofetil embryopathy"/>
</concept>
<concept>
<code value="268261"/>
<display
value="DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"/>
</concept>
<concept>
<code value="268316"/>
<display value="Complication in hemodialysis"/>
</concept>
<concept>
<code value="268322"/>
<display value="Hereditary thrombocytopenia with normal platelets"/>
</concept>
<concept>
<code value="268363"/>
<display value="Open iniencephaly"/>
</concept>
<concept>
<code value="268366"/>
<display value="Closed iniencephaly"/>
</concept>
<concept>
<code value="2686"/>
<display value="Cyclic neutropenia"/>
</concept>
<concept>
<code value="2688"/>
<display value="Adult idiopathic neutropenia"/>
</concept>
<concept>
<code value="268810"/>
<display value="Isolated posterior meningocele"/>
</concept>
<concept>
<code value="268820"/>
<display value="Cranial meningocele"/>
</concept>
<concept>
<code value="268823"/>
<display value="Occipital encephalocele"/>
</concept>
<concept>
<code value="268826"/>
<display value="Parietal encephalocele"/>
</concept>
<concept>
<code value="268829"/>
<display value="Basal encephalocele"/>
</concept>
<concept>
<code value="268861"/>
<display value="Primary tethered cord syndrome"/>
</concept>
<concept>
<code value="268865"/>
<display value="Neurenteric cyst"/>
</concept>
<concept>
<code value="268868"/>
<display value="Isolated amyelia"/>
</concept>
<concept>
<code value="268882"/>
<display value="Arnold-Chiari malformation type I"/>
</concept>
<concept>
<code value="268936"/>
<display value="Isolated arhinencephaly"/>
</concept>
<concept>
<code value="268940"/>
<display value="Bilateral polymicrogyria"/>
</concept>
<concept>
<code value="268943"/>
<display value="Unilateral polymicrogyria"/>
</concept>
<concept>
<code value="268947"/>
<display value="Unilateral focal polymicrogyria"/>
</concept>
<concept>
<code value="268961"/>
<display value="Isolated focal cortical dysplasia type I"/>
</concept>
<concept>
<code value="268973"/>
<display value="Isolated focal cortical dysplasia type Ia"/>
</concept>
<concept>
<code value="268980"/>
<display value="Isolated focal cortical dysplasia type Ib"/>
</concept>
<concept>
<code value="268987"/>
<display value="Isolated focal cortical dysplasia type Ic"/>
</concept>
<concept>
<code value="268994"/>
<display value="Isolated focal cortical dysplasia type II"/>
</concept>
<concept>
<code value="269"/>
<display value="Facioscapulohumeral dystrophy"/>
</concept>
<concept>
<code value="2690"/>
<display value="Neutropenia-monocytopenia-deafness syndrome"/>
</concept>
<concept>
<code value="269001"/>
<display value="Isolated focal cortical dysplasia type IIa"/>
</concept>
<concept>
<code value="269008"/>
<display value="Isolated focal cortical dysplasia type IIb"/>
</concept>
<concept>
<code value="269197"/>
<display value="Glioependymal/ependymal cyst"/>
</concept>
<concept>
<code value="269203"/>
<display value="Isolated cerebellar vermis agenesis"/>
</concept>
<concept>
<code value="269206"/>
<display value="Isolated total cerebellar vermis agenesis"/>
</concept>
<concept>
<code value="269209"/>
<display value="Isolated partial cerebellar vermis agenesis"/>
</concept>
<concept>
<code value="269212"/>
<display
value="Isolated Dandy-Walker malformation with hydrocephalus"/>
</concept>
<concept>
<code value="269215"/>
<display
value="Isolated Dandy-Walker malformation without hydrocephalus"/>
</concept>
<concept>
<code value="269218"/>
<display
value="Isolated unilateral hemispheric cerebellar hypoplasia"/>
</concept>
<concept>
<code value="269221"/>
<display
value="Isolated bilateral hemispheric cerebellar hypoplasia"/>
</concept>
<concept>
<code value="269229"/>
<display value="Pontine tegmental cap dysplasia"/>
</concept>
<concept>
<code value="2695"/>
<display value="Bifid nose"/>
</concept>
<concept>
<code value="269505"/>
<display value="Congenital communicating hydrocephalus"/>
</concept>
<concept>
<code value="269510"/>
<display value="Congenital non-communicating hydrocephalus"/>
</concept>
<concept>
<code value="2697"/>
<display
value="Arthrogryposis-renal dysfunction-cholestasis syndrome"/>
</concept>
<concept>
<code value="2698"/>
<display
value="Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"/>
</concept>
<concept>
<code value="2699"/>
<display value="Median nodule of the upper lip"/>
</concept>
<concept>
<code value="27"/>
<display value="Vitamin B12-unresponsive methylmalonic acidemia"/>
</concept>
<concept>
<code value="270"/>
<display value="Oculopharyngeal muscular dystrophy"/>
</concept>
<concept>
<code value="2700"/>
<display value="Noma"/>
</concept>
<concept>
<code value="2701"/>
<display
value="Noonan syndrome-like disorder with loose anagen hair"/>
</concept>
<concept>
<code value="2703"/>
<display
value="Port-wine nevi-mega cisterna magna-hydrocephalus syndrome"/>
</concept>
<concept>
<code value="2704"/>
<display value="Urofacial syndrome"/>
</concept>
<concept>
<code value="2707"/>
<display value="Oculocerebrofacial syndrome, Kaufman type"/>
</concept>
<concept>
<code value="2709"/>
<display value="Oculodental syndrome, Rutherfurd type"/>
</concept>
<concept>
<code value="2710"/>
<display value="Oculodentodigital dysplasia"/>
</concept>
<concept>
<code value="2712"/>
<display value="Oculofaciocardiodental syndrome"/>
</concept>
<concept>
<code value="2713"/>
<display value="Oculoosteocutaneous syndrome"/>
</concept>
<concept>
<code value="2714"/>
<display value="Oculo-palato-cerebral syndrome"/>
</concept>
<concept>
<code value="2715"/>
<display value="Severe oculo-renal-cerebellar syndrome"/>
</concept>
<concept>
<code value="2717"/>
<display value="Oculotrichoanal syndrome"/>
</concept>
<concept>
<code value="2718"/>
<display value="Oculotrichodysplasia"/>
</concept>
<concept>
<code value="271861"/>
<display value="Hereditary ATTR amyloidosis"/>
</concept>
<concept>
<code value="2719"/>
<display value="Oculocerebral hypopigmentation syndrome, Cross type"/>
</concept>
<concept>
<code value="272"/>
<display value="Congenital muscular dystrophy, Fukuyama type"/>
</concept>
<concept>
<code value="2720"/>
<display value="Oculocerebral hypopigmentation syndrome, Preus type"/>
</concept>
<concept>
<code value="2721"/>
<display value="Odonto-onycho-dermal dysplasia"/>
</concept>
<concept>
<code value="2722"/>
<display value="Odonto-onycho dysplasia-alopecia syndrome"/>
</concept>
<concept>
<code value="2723"/>
<display value="Odontotrichomelic syndrome"/>
</concept>
<concept>
<code value="2724"/>
<display value="Odontomatosis-aortae esophagus stenosis syndrome"/>
</concept>
<concept>
<code value="2728"/>
<display
value="Blepharophimosis-intellectual disability syndrome, Ohdo type"/>
</concept>
<concept>
<code value="273"/>
<display value="Steinert myotonic dystrophy"/>
</concept>
<concept>
<code value="2730"/>
<display value="Postaxial tetramelic oligodactyly"/>
</concept>
<concept>
<code value="2732"/>
<display value="Olivopontocerebellar atrophy-deafness syndrome"/>
</concept>
<concept>
<code value="2733"/>
<display value="Omodysplasia"/>
</concept>
<concept>
<code value="2736"/>
<display value="Lethal omphalocele-cleft palate syndrome"/>
</concept>
<concept>
<code value="2737"/>
<display value="Onchocerciasis"/>
</concept>
<concept>
<code value="274"/>
<display value="Bernard-Soulier syndrome"/>
</concept>
<concept>
<code value="2741"/>
<display value="Ophthalmomandibulomelic dysplasia"/>
</concept>
<concept>
<code value="2743"/>
<display
value="Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome"/>
</concept>
<concept>
<code value="2744"/>
<display value="Horizontal gaze palsy with progressive scoliosis"/>
</concept>
<concept>
<code value="2745"/>
<display value="Opitz GBBB syndrome"/>
</concept>
<concept>
<code value="2746"/>
<display value="Opsismodysplasia"/>
</concept>
<concept>
<code value="275"/>
<display
value="Severe combined immunodeficiency due to DCLRE1C deficiency"/>
</concept>
<concept>
<code value="2750"/>
<display value="Orofaciodigital syndrome type 1"/>
</concept>
<concept>
<code value="2751"/>
<display value="Orofaciodigital syndrome type 2"/>
</concept>
<concept>
<code value="2753"/>
<display value="Orofaciodigital syndrome type 4"/>
</concept>
<concept>
<code value="2754"/>
<display value="Orofaciodigital syndrome type 6"/>
</concept>
<concept>
<code value="2755"/>
<display value="Orofaciodigital syndrome type 8"/>
</concept>
<concept>
<code value="275517"/>
<display
value="Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency"/>
</concept>
<concept>
<code value="275523"/>
<display value="Dianzani autoimmune lymphoproliferative disease"/>
</concept>
<concept>
<code value="275543"/>
<display value="L1 syndrome"/>
</concept>
<concept>
<code value="275555"/>
<display value="Preeclampsia"/>
</concept>
<concept>
<code value="275761"/>
<display value="Lysosomal acid lipase deficiency"/>
</concept>
<concept>
<code value="275766"/>
<display value="Idiopathic pulmonary arterial hypertension"/>
</concept>
<concept>
<code value="275777"/>
<display value="Heritable pulmonary arterial hypertension"/>
</concept>
<concept>
<code value="275864"/>
<display value="Behavioral variant of frontotemporal dementia"/>
</concept>
<concept>
<code value="275872"/>
<display value="Frontotemporal dementia with motor neuron disease"/>
</concept>
<concept>
<code value="2759"/>
<display
value="Imperforate oropharynx-costovertebral anomalies syndrome"/>
</concept>
<concept>
<code value="275944"/>
<display
value="Hemolytic disease of the newborn with Kell alloimmunization"/>
</concept>
<concept>
<code value="276"/>
<display
value="T-B+ severe combined immunodeficiency due to gamma chain deficiency"/>
</concept>
<concept>
<code value="2760"/>
<display value="OSLAM syndrome"/>
</concept>
<concept>
<code value="276066"/>
<display
value="Bile acid CoA ligase deficiency and defective amidation"/>
</concept>
<concept>
<code value="276145"/>
<display value="Malignant epithelial tumor of salivary glands"/>
</concept>
<concept>
<code value="276148"/>
<display value="Benign epithelial tumor of salivary glands"/>
</concept>
<concept>
<code value="276152"/>
<display value="Multiple endocrine neoplasia type 4"/>
</concept>
<concept>
<code value="276174"/>
<display value="Idiopathic recurrent stupor"/>
</concept>
<concept>
<code value="276183"/>
<display value="Spinocerebellar ataxia type 32"/>
</concept>
<concept>
<code value="276193"/>
<display value="Spinocerebellar ataxia type 35"/>
</concept>
<concept>
<code value="276198"/>
<display value="Spinocerebellar ataxia type 36"/>
</concept>
<concept>
<code value="2762"/>
<display value="Progressive osseous heteroplasia"/>
</concept>
<concept>
<code value="276212"/>
<display value="Mucopolysaccharidosis type 6, rapidly progressing"/>
</concept>
<concept>
<code value="276223"/>
<display value="Mucopolysaccharidosis type 6, slowly progressing"/>
</concept>
<concept>
<code value="276234"/>
<display
value="Non-syndromic male infertility due to sperm motility disorder"/>
</concept>
<concept>
<code value="276238"/>
<display value="Machado-Joseph disease type 1"/>
</concept>
<concept>
<code value="276241"/>
<display value="Machado-Joseph disease type 2"/>
</concept>
<concept>
<code value="276244"/>
<display value="Machado-Joseph disease type 3"/>
</concept>
<concept>
<code value="276280"/>
<display value="Hemihyperplasia-multiple lipomatosis syndrome"/>
</concept>
<concept>
<code value="2763"/>
<display value="Osteocraniostenosis"/>
</concept>
<concept>
<code value="276399"/>
<display value="Familial multinodular goiter"/>
</concept>
<concept>
<code value="2764"/>
<display value="Osteochondritis dissecans"/>
</concept>
<concept>
<code value="276405"/>
<display value="Hyperbiliverdinemia"/>
</concept>
<concept>
<code value="276413"/>
<display value="10q22.3q23.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="276422"/>
<display value="10q22.3q23.3 microduplication syndrome"/>
</concept>
<concept>
<code value="276429"/>
<display value="Hypnic headache"/>
</concept>
<concept>
<code value="276432"/>
<display value="Ogden syndrome"/>
</concept>
<concept>
<code value="276435"/>
<display value="Lower motor neuron syndrome with late-adult onset"/>
</concept>
<concept>
<code value="276556"/>
<display value="Hyperinsulinism due to UCP2 deficiency"/>
</concept>
<concept>
<code value="276575"/>
<display
value="Autosomal dominant hyperinsulinism due to SUR1 deficiency"/>
</concept>
<concept>
<code value="276580"/>
<display
value="Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"/>
</concept>
<concept>
<code value="276598"/>
<display
value="Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"/>
</concept>
<concept>
<code value="276603"/>
<display
value="Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"/>
</concept>
<concept>
<code value="276608"/>
<display
value="Non-insulinoma pancreatogenous hypoglycemia syndrome"/>
</concept>
<concept>
<code value="276621"/>
<display value="Sporadic pheochromocytoma/secreting paraganglioma"/>
</concept>
<concept>
<code value="276630"/>
<display
value="Symptomatic form of Coffin-Lowry syndrome in female carriers"/>
</concept>
<concept>
<code value="2767"/>
<display value="Carpotarsal osteochondromatosis"/>
</concept>
<concept>
<code value="2768"/>
<display value="Blount disease"/>
</concept>
<concept>
<code value="2769"/>
<display value="Familial osteodysplasia, Anderson type"/>
</concept>
<concept>
<code value="277"/>
<display
value="Severe combined immunodeficiency due to adenosine deaminase deficiency"/>
</concept>
<concept>
<code value="2770"/>
<display value="Nasu-Hakola disease"/>
</concept>
<concept>
<code value="2771"/>
<display value="Bruck syndrome"/>
</concept>
<concept>
<code value="2772"/>
<display
value="Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"/>
</concept>
<concept>
<code value="2773"/>
<display
value="Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2774"/>
<display
value="Multicentric carpo-tarsal osteolysis with or without nephropathy"/>
</concept>
<concept>
<code value="2776"/>
<display value="Autosomal recessive distal osteolysis syndrome"/>
</concept>
<concept>
<code value="2777"/>
<display value="Osteomesopyknosis"/>
</concept>
<concept>
<code value="2779"/>
<display
value="Osteopathia striata-pigmentary dermopathy-white forelock syndrome"/>
</concept>
<concept>
<code value="2780"/>
<display value="Osteopathia striata-cranial sclerosis syndrome"/>
</concept>
<concept>
<code value="2783"/>
<display value="Autosomal dominant osteopetrosis type 1"/>
</concept>
<concept>
<code value="2785"/>
<display value="Osteopetrosis with renal tubular acidosis"/>
</concept>
<concept>
<code value="2786"/>
<display
value="Osteoporosis-oculocutaneous hypopigmentation syndrome"/>
</concept>
<concept>
<code value="2788"/>
<display value="Osteoporosis-pseudoglioma syndrome"/>
</concept>
<concept>
<code value="2789"/>
<display value="Lateral meningocele syndrome"/>
</concept>
<concept>
<code value="2790"/>
<display value="Endosteal hyperostosis, Worth type"/>
</concept>
<concept>
<code value="2791"/>
<display value="Otodental syndrome"/>
</concept>
<concept>
<code value="2792"/>
<display value="Otofaciocervical syndrome"/>
</concept>
<concept>
<code value="2793"/>
<display value="Otoonychoperoneal syndrome"/>
</concept>
<concept>
<code value="2795"/>
<display value="Fowler urethral sphincter dysfunction syndrome"/>
</concept>
<concept>
<code value="2796"/>
<display value="Pachydermoperiostosis"/>
</concept>
<concept>
<code value="2798"/>
<display
value="Pachygyria-intellectual disability-epilepsy syndrome"/>
</concept>
<concept>
<code value="279882"/>
<display value="Spasmus nutans"/>
</concept>
<concept>
<code value="279888"/>
<display value="Acute endophthalmitis"/>
</concept>
<concept>
<code value="279891"/>
<display value="Chronic endophthalmitis"/>
</concept>
<concept>
<code value="279894"/>
<display value="Toxic maculopathy due to antimalarial drugs"/>
</concept>
<concept>
<code value="279897"/>
<display value="Primary oculocerebral lymphoma"/>
</concept>
<concept>
<code value="279904"/>
<display value="Primary intraocular lymphoma"/>
</concept>
<concept>
<code value="279914"/>
<display value="Intermediate uveitis"/>
</concept>
<concept>
<code value="279919"/>
<display value="Infectious posterior uveitis"/>
</concept>
<concept>
<code value="279922"/>
<display value="Infectious anterior uveitis"/>
</concept>
<concept>
<code value="279925"/>
<display value="Infectious panuveitis"/>
</concept>
<concept>
<code value="279928"/>
<display value="Paraneoplastic uveitis"/>
</concept>
<concept>
<code value="279934"/>
<display
value="Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"/>
</concept>
<concept>
<code value="279943"/>
<display value="Hereditary neutrophilia"/>
</concept>
<concept>
<code value="279947"/>
<display value="Postorgasmic illness syndrome"/>
</concept>
<concept>
<code value="28"/>
<display value="Vitamin B12-responsive methylmalonic acidemia"/>
</concept>
<concept>
<code value="280"/>
<display value="Wolf-Hirschhorn syndrome"/>
</concept>
<concept>
<code value="2800"/>
<display value="Extramammary Paget disease"/>
</concept>
<concept>
<code value="280062"/>
<display value="Calciphylaxis"/>
</concept>
<concept>
<code value="280065"/>
<display value="Calciphylaxis cutis"/>
</concept>
<concept>
<code value="280068"/>
<display value="Visceral calciphylaxis"/>
</concept>
<concept>
<code value="280071"/>
<display value="ALG11-CDG"/>
</concept>
<concept>
<code value="2801"/>
<display value="Juvenile Paget disease"/>
</concept>
<concept>
<code value="280133"/>
<display value="Complement component 3 deficiency"/>
</concept>
<concept>
<code value="280142"/>
<display
value="Severe combined immunodeficiency due to LCK deficiency"/>
</concept>
<concept>
<code value="280183"/>
<display
value="Methylmalonic aciduria due to transcobalamin receptor defect"/>
</concept>
<concept>
<code value="280195"/>
<display value="Septopreoptic holoprosencephaly"/>
</concept>
<concept>
<code value="2802"/>
<display
value="X-linked sideroblastic anemia and spinocerebellar ataxia"/>
</concept>
<concept>
<code value="280200"/>
<display value="Microform holoprosencephaly"/>
</concept>
<concept>
<code value="280205"/>
<display value="Laryngotracheoesophageal cleft type 0"/>
</concept>
<concept>
<code value="280210"/>
<display value="Pelizaeus-Merzbacher disease, connatal form"/>
</concept>
<concept>
<code value="280219"/>
<display value="Pelizaeus-Merzbacher disease, classic form"/>
</concept>
<concept>
<code value="280224"/>
<display value="Pelizaeus-Merzbacher disease, transitional form"/>
</concept>
<concept>
<code value="280229"/>
<display value="Pelizaeus-Merzbacher disease in female carriers"/>
</concept>
<concept>
<code value="280234"/>
<display value="Null syndrome"/>
</concept>
<concept>
<code value="280270"/>
<display value="Pelizaeus-Merzbacher-like disease"/>
</concept>
<concept>
<code value="280282"/>
<display
value="Pelizaeus-Merzbacher-like disease due to GJC2 mutation"/>
</concept>
<concept>
<code value="280288"/>
<display
value="Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"/>
</concept>
<concept>
<code value="280293"/>
<display
value="Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"/>
</concept>
<concept>
<code value="280302"/>
<display value="Autoimmune pancreatitis type 1"/>
</concept>
<concept>
<code value="280315"/>
<display value="Autoimmune pancreatitis type 2"/>
</concept>
<concept>
<code value="280325"/>
<display value="Distal deletion 12p syndrome"/>
</concept>
<concept>
<code value="280333"/>
<display
value="Alpha-dystroglycan-related limb-girdle muscular dystrophy R16"/>
</concept>
<concept>
<code value="280356"/>
<display value="PLIN1-related familial partial lipodystrophy"/>
</concept>
<concept>
<code value="280365"/>
<display
value="Autosomal semi-dominant severe lipodystrophic laminopathy"/>
</concept>
<concept>
<code value="280379"/>
<display
value="Erythropoietic uroporphyria associated with myeloid malignancy"/>
</concept>
<concept>
<code value="280384"/>
<display
value="Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"/>
</concept>
<concept>
<code value="280397"/>
<display value="Familial Alzheimer-like prion disease"/>
</concept>
<concept>
<code value="2804"/>
<display value="W syndrome"/>
</concept>
<concept>
<code value="280403"/>
<display
value="Familial omphalocele syndrome with facial dysmorphism"/>
</concept>
<concept>
<code value="280406"/>
<display
value="Familial steroid-resistant nephrotic syndrome with sensorineural deafness"/>
</concept>
<concept>
<code value="2805"/>
<display value="Partial pancreatic agenesis"/>
</concept>
<concept>
<code value="280553"/>
<display value="Fatal infantile hypertonic myofibrillar myopathy"/>
</concept>
<concept>
<code value="280558"/>
<display value="Warsaw breakage syndrome"/>
</concept>
<concept>
<code value="280576"/>
<display value="Nestor-Guillermo progeria syndrome"/>
</concept>
<concept>
<code value="280586"/>
<display
value="Chondrodysplasia with joint dislocations, gPAPP type"/>
</concept>
<concept>
<code value="280598"/>
<display
value="Hereditary sensorimotor neuropathy with hyperelastic skin"/>
</concept>
<concept>
<code value="2806"/>
<display value="Subacute sclerosing leukoencephalitis"/>
</concept>
<concept>
<code value="280615"/>
<display value="Hemoglobinopathy Toms River"/>
</concept>
<concept>
<code value="280620"/>
<display value="Progressive myoclonic epilepsy type 6"/>
</concept>
<concept>
<code value="280628"/>
<display value="Familial progressive hyper- and hypopigmentation"/>
</concept>
<concept>
<code value="280633"/>
<display
value="Multiple congenital anomalies-hypotonia-seizures syndrome"/>
</concept>
<concept>
<code value="280640"/>
<display value="Occipital pachygyria and polymicrogyria"/>
</concept>
<concept>
<code value="280654"/>
<display value="Autosomal recessive nail dysplasia"/>
</concept>
<concept>
<code value="280671"/>
<display value="Megaconial congenital muscular dystrophy"/>
</concept>
<concept>
<code value="280679"/>
<display
value="Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"/>
</concept>
<concept>
<code value="2807"/>
<display value="Papilloma of choroid plexus"/>
</concept>
<concept>
<code value="280763"/>
<display
value="Severe intellectual disability and progressive spastic paraplegia"/>
</concept>
<concept>
<code value="280774"/>
<display value="Generalized essential telangiectasia"/>
</concept>
<concept>
<code value="280779"/>
<display value="Cutaneous collagenous vasculopathy"/>
</concept>
<concept>
<code value="280785"/>
<display value="Bullous diffuse cutaneous mastocytosis"/>
</concept>
<concept>
<code value="280794"/>
<display value="Pseudoxanthomatous diffuse cutaneous mastocytosis"/>
</concept>
<concept>
<code value="2808"/>
<display value="Laryngeal abductor paralysis"/>
</concept>
<concept>
<code value="280802"/>
<display value="Intralobar congenital pulmonary sequestration"/>
</concept>
<concept>
<code value="280811"/>
<display value="Extralobar congenital pulmonary sequestration"/>
</concept>
<concept>
<code value="280821"/>
<display
value="Communicating congenital bronchopulmonary-foregut malformation"/>
</concept>
<concept>
<code value="280827"/>
<display value="Congenital pulmonary airway malformation type 0"/>
</concept>
<concept>
<code value="280832"/>
<display value="Congenital pulmonary airway malformation type 1"/>
</concept>
<concept>
<code value="280840"/>
<display value="Congenital pulmonary airway malformation type 2"/>
</concept>
<concept>
<code value="280847"/>
<display value="Congenital pulmonary airway malformation type 3"/>
</concept>
<concept>
<code value="280854"/>
<display value="Congenital pulmonary airway malformation type 4"/>
</concept>
<concept>
<code value="2809"/>
<display value="Familial recurrent peripheral facial palsy"/>
</concept>
<concept>
<code value="280914"/>
<display value="Isolated idiopathic anterior uveitis"/>
</concept>
<concept>
<code value="280917"/>
<display value="Idiopathic posterior uveitis"/>
</concept>
<concept>
<code value="280921"/>
<display value="Idiopathic panuveitis"/>
</concept>
<concept>
<code value="281"/>
<display value="Monosomy 5p syndrome"/>
</concept>
<concept>
<code value="281090"/>
<display value="Syndromic recessive X-linked ichthyosis"/>
</concept>
<concept>
<code value="281122"/>
<display value="Self-improving collodion baby"/>
</concept>
<concept>
<code value="281127"/>
<display value="Acral self-healing collodion baby"/>
</concept>
<concept>
<code value="281139"/>
<display value="Annular epidermolytic ichthyosis"/>
</concept>
<concept>
<code value="281190"/>
<display value="Congenital reticular ichthyosiform erythroderma"/>
</concept>
<concept>
<code value="2812"/>
<display value="Parana hard skin syndrome"/>
</concept>
<concept>
<code value="281201"/>
<display
value="Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"/>
</concept>
<concept>
<code value="2815"/>
<display value="Spastic paraparesis-deafness syndrome"/>
</concept>
<concept>
<code value="2818"/>
<display
value="Spastic paraplegia-glaucoma-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2819"/>
<display
value="Spastic paraplegia-facial-cutaneous lesions syndrome"/>
</concept>
<concept>
<code value="2820"/>
<display value="Spastic paraplegia-nephritis-deafness syndrome"/>
</concept>
<concept>
<code value="2821"/>
<display value="Spastic paraplegia-neuropathy-poikiloderma syndrome"/>
</concept>
<concept>
<code value="282166"/>
<display value="Inherited Creutzfeldt-Jakob disease"/>
</concept>
<concept>
<code value="2822"/>
<display value="Autosomal recessive spastic paraplegia type 11"/>
</concept>
<concept>
<code value="2824"/>
<display
value="Paraplegia-intellectual disability-hyperkeratosis syndrome"/>
</concept>
<concept>
<code value="2825"/>
<display value="PARC syndrome"/>
</concept>
<concept>
<code value="2826"/>
<display value="Spastic paraplegia-precocious puberty syndrome"/>
</concept>
<concept>
<code value="2828"/>
<display value="Young-onset Parkinson disease"/>
</concept>
<concept>
<code value="283"/>
<display value="Demodicidosis"/>
</concept>
<concept>
<code value="2831"/>
<display value="Rhizomelic dysplasia, Patterson-Lowry type"/>
</concept>
<concept>
<code value="2832"/>
<display value="Short tarsus-absence of lower eyelashes syndrome"/>
</concept>
<concept>
<code value="2833"/>
<display value="Stiff skin syndrome"/>
</concept>
<concept>
<code value="2834"/>
<display value="Wrinkly skin syndrome"/>
</concept>
<concept>
<code value="2835"/>
<display
value="Pectus excavatum-macrocephaly-dysplastic nails syndrome"/>
</concept>
<concept>
<code value="2836"/>
<display value="PEHO syndrome"/>
</concept>
<concept>
<code value="28378"/>
<display value="Tyrosinemia type 2"/>
</concept>
<concept>
<code value="2838"/>
<display value="Renal caliceal diverticuli-deafness syndrome"/>
</concept>
<concept>
<code value="2839"/>
<display value="Pelvis-shoulder dysplasia"/>
</concept>
<concept>
<code value="284"/>
<display value="Alveolar echinococcosis"/>
</concept>
<concept>
<code value="2840"/>
<display
value="Pelvic dysplasia-arthrogryposis of lower limbs syndrome"/>
</concept>
<concept>
<code value="2841"/>
<display value="Hailey-Hailey disease"/>
</concept>
<concept>
<code value="284139"/>
<display value="Larsen-like syndrome, B3GAT3 type"/>
</concept>
<concept>
<code value="284149"/>
<display value="Craniosynostosis-dental anomalies"/>
</concept>
<concept>
<code value="284160"/>
<display value="8q21.11 microdeletion syndrome"/>
</concept>
<concept>
<code value="284169"/>
<display
value="Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"/>
</concept>
<concept>
<code value="284180"/>
<display value="Xp22.13p22.2 duplication syndrome"/>
</concept>
<concept>
<code value="2842"/>
<display value="Penoscrotal transposition"/>
</concept>
<concept>
<code value="284227"/>
<display value="TEMPI syndrome"/>
</concept>
<concept>
<code value="284232"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2O"/>
</concept>
<concept>
<code value="284247"/>
<display value="Familial retinal arterial macroaneurysm"/>
</concept>
<concept>
<code value="284271"/>
<display
value="Autosomal recessive cerebellar ataxia-psychomotor delay syndrome"/>
</concept>
<concept>
<code value="284282"/>
<display
value="Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency"/>
</concept>
<concept>
<code value="284289"/>
<display value="Adult-onset autosomal recessive cerebellar ataxia"/>
</concept>
<concept>
<code value="2843"/>
<display value="Pentosuria"/>
</concept>
<concept>
<code value="284324"/>
<display
value="Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"/>
</concept>
<concept>
<code value="284332"/>
<display
value="Infantile-onset autosomal recessive nonprogressive cerebellar ataxia"/>
</concept>
<concept>
<code value="284339"/>
<display value="Pontocerebellar hypoplasia type 7"/>
</concept>
<concept>
<code value="284343"/>
<display value="DICER1 tumor-predisposition syndrome"/>
</concept>
<concept>
<code value="284362"/>
<display value="Fetal lung interstitial tumor"/>
</concept>
<concept>
<code value="284388"/>
<display value="Reversible cerebral vasoconstriction syndrome"/>
</concept>
<concept>
<code value="284395"/>
<display
value="Well-differentiated fetal adenocarcinoma of the lung"/>
</concept>
<concept>
<code value="284400"/>
<display value="Small cell carcinoma of the bladder"/>
</concept>
<concept>
<code value="284411"/>
<display value="Glycerol kinase deficiency, juvenile form"/>
</concept>
<concept>
<code value="284414"/>
<display value="Glycerol kinase deficiency, adult form"/>
</concept>
<concept>
<code value="284417"/>
<display
value="Phosphoserine aminotransferase deficiency, infantile/juvenile form"/>
</concept>
<concept>
<code value="284426"/>
<display
value="Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"/>
</concept>
<concept>
<code value="284435"/>
<display
value="Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"/>
</concept>
<concept>
<code value="284448"/>
<display value="CLIPPERS"/>
</concept>
<concept>
<code value="284454"/>
<display value="Acute zonal occult outer retinopathy"/>
</concept>
<concept>
<code value="284460"/>
<display value="Acute annular outer retinopathy"/>
</concept>
<concept>
<code value="2847"/>
<display value="Pericardial and diaphragmatic defect"/>
</concept>
<concept>
<code value="2848"/>
<display
value="Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"/>
</concept>
<concept>
<code value="2849"/>
<display value="Perlman syndrome"/>
</concept>
<concept>
<code value="284963"/>
<display value="Marfan syndrome type 1"/>
</concept>
<concept>
<code value="284973"/>
<display value="Marfan syndrome type 2"/>
</concept>
<concept>
<code value="284979"/>
<display value="Neonatal Marfan syndrome"/>
</concept>
<concept>
<code value="284984"/>
<display value="Aneurysm-osteoarthritis syndrome"/>
</concept>
<concept>
<code value="285"/>
<display value="Hypermobile Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="2850"/>
<display value="Alopecia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2854"/>
<display value="Fuhrmann syndrome"/>
</concept>
<concept>
<code value="2855"/>
<display value="Perrault syndrome"/>
</concept>
<concept>
<code value="2856"/>
<display value="Persistent Müllerian duct syndrome"/>
</concept>
<concept>
<code value="286"/>
<display value="Vascular Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="2863"/>
<display value="Short stature-wormian bones-dextrocardia syndrome"/>
</concept>
<concept>
<code value="2865"/>
<display value="Short stature-webbed neck-heart disease syndrome"/>
</concept>
<concept>
<code value="2866"/>
<display
value="Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"/>
</concept>
<concept>
<code value="2867"/>
<display value="Short stature, Brussels type"/>
</concept>
<concept>
<code value="2868"/>
<display
value="Short stature-valvular heart disease-characteristic facies syndrome"/>
</concept>
<concept>
<code value="2869"/>
<display value="Peutz-Jeghers syndrome"/>
</concept>
<concept>
<code value="287"/>
<display value="Classical Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="2871"/>
<display value="Pfeiffer-Palm-Teller syndrome"/>
</concept>
<concept>
<code value="2872"/>
<display value="Cardiocranial syndrome, Pfeiffer type"/>
</concept>
<concept>
<code value="2874"/>
<display value="Phakomatosis pigmentokeratotica"/>
</concept>
<concept>
<code value="2875"/>
<display value="Phakomatosis pigmentovascularis"/>
</concept>
<concept>
<code value="2876"/>
<display value="PHAVER syndrome"/>
</concept>
<concept>
<code value="2879"/>
<display value="Phocomelia, Schinzel type"/>
</concept>
<concept>
<code value="288"/>
<display value="Hereditary elliptocytosis"/>
</concept>
<concept>
<code value="2880"/>
<display value="Phosphoenolpyruvate carboxykinase deficiency"/>
</concept>
<concept>
<code value="2881"/>
<display value="Cutaneous photosensitivity-lethal colitis syndrome"/>
</concept>
<concept>
<code value="2882"/>
<display value="Sitosterolemia"/>
</concept>
<concept>
<code value="2884"/>
<display value="Piebaldism"/>
</concept>
<concept>
<code value="2885"/>
<display value="Piebald trait-neurologic defects syndrome"/>
</concept>
<concept>
<code value="2886"/>
<display value="TARP syndrome"/>
</concept>
<concept>
<code value="2888"/>
<display value="Pierre Robin syndrome-faciodigital anomaly syndrome"/>
</concept>
<concept>
<code value="2889"/>
<display value="Pili torti"/>
</concept>
<concept>
<code value="289"/>
<display value="Ellis Van Creveld syndrome"/>
</concept>
<concept>
<code value="2890"/>
<display value="Pili torti-onychodysplasia syndrome"/>
</concept>
<concept>
<code value="2891"/>
<display
value="Pili torti-developmental delay-neurological abnormalities syndrome"/>
</concept>
<concept>
<code value="289157"/>
<display value="Hypocalcemic vitamin D-dependent rickets"/>
</concept>
<concept>
<code value="289176"/>
<display value="Autosomal recessive hypophosphatemic rickets"/>
</concept>
<concept>
<code value="2892"/>
<display value="Pilodental dysplasia-refractive errors syndrome"/>
</concept>
<concept>
<code value="289266"/>
<display
value="Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"/>
</concept>
<concept>
<code value="289290"/>
<display
value="Hypermethioninemia encephalopathy due to adenosine kinase deficiency"/>
</concept>
<concept>
<code value="289307"/>
<display
value="Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency"/>
</concept>
<concept>
<code value="289326"/>
<display value="Tropical spastic paraparesis"/>
</concept>
<concept>
<code value="289347"/>
<display value="Infective dermatitis associated with HTLV-1"/>
</concept>
<concept>
<code value="289356"/>
<display value="Primary non-gestational choriocarcinoma of ovary"/>
</concept>
<concept>
<code value="289362"/>
<display
value="Non-central nervous system-localized embryonal carcinoma"/>
</concept>
<concept>
<code value="289365"/>
<display value="Familial vesicoureteral reflux"/>
</concept>
<concept>
<code value="289377"/>
<display value="Early-onset myopathy with fatal cardiomyopathy"/>
</concept>
<concept>
<code value="289380"/>
<display value="Myosclerosis"/>
</concept>
<concept>
<code value="289385"/>
<display value="Malignancy diagnosed during pregnancy"/>
</concept>
<concept>
<code value="289390"/>
<display value="Primary Sjögren disease"/>
</concept>
<concept>
<code value="289465"/>
<display value="Isolated congenital adermatoglyphia"/>
</concept>
<concept>
<code value="289478"/>
<display value="PASH syndrome"/>
</concept>
<concept>
<code value="289483"/>
<display value="Intellectual disability-alacrima-achalasia syndrome"/>
</concept>
<concept>
<code value="289494"/>
<display value="4H leukodystrophy"/>
</concept>
<concept>
<code value="289499"/>
<display
value="Congenital cataract microcornea with corneal opacity"/>
</concept>
<concept>
<code value="289504"/>
<display value="Combined malonic and methylmalonic acidemia"/>
</concept>
<concept>
<code value="289513"/>
<display value="12q15q21 microdeletion syndrome"/>
</concept>
<concept>
<code value="289522"/>
<display value="Microtriplication 11q24.1 syndrome"/>
</concept>
<concept>
<code value="289539"/>
<display value="BAP1-related tumor predisposition syndrome"/>
</concept>
<concept>
<code value="289548"/>
<display
value="Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"/>
</concept>
<concept>
<code value="289553"/>
<display
value="Dysmorphism-conductive hearing loss-heart defect syndrome"/>
</concept>
<concept>
<code value="289560"/>
<display
value="Mitochondrial membrane protein-associated neurodegeneration"/>
</concept>
<concept>
<code value="289586"/>
<display value="Exfoliative ichthyosis"/>
</concept>
<concept>
<code value="289596"/>
<display value="Juvenile nasopharyngeal angiofibroma"/>
</concept>
<concept>
<code value="2896"/>
<display value="Pitt-Hopkins syndrome"/>
</concept>
<concept>
<code value="289601"/>
<display
value="Hereditary arterial and articular multiple calcification syndrome"/>
</concept>
<concept>
<code value="289661"/>
<display
value="Epstein-Barr virus-positive diffuse large B-cell lymphoma"/>
</concept>
<concept>
<code value="289666"/>
<display value="Plasmablastic lymphoma"/>
</concept>
<concept>
<code value="289682"/>
<display value="Lymphoepithelial-like carcinoma"/>
</concept>
<concept>
<code value="289685"/>
<display value="Myopericytoma"/>
</concept>
<concept>
<code value="2897"/>
<display value="Pityriasis rubra pilaris"/>
</concept>
<concept>
<code value="2898"/>
<display
value="X-linked intellectual disability-plagiocephaly syndrome"/>
</concept>
<concept>
<code value="289846"/>
<display
value="Glutathione synthetase deficiency with 5-oxoprolinuria"/>
</concept>
<concept>
<code value="289849"/>
<display
value="Glutathione synthetase deficiency without 5-oxoprolinuria"/>
</concept>
<concept>
<code value="289857"/>
<display value="Neonatal glycine encephalopathy"/>
</concept>
<concept>
<code value="289860"/>
<display value="Infantile glycine encephalopathy"/>
</concept>
<concept>
<code value="289863"/>
<display value="Atypical glycine encephalopathy"/>
</concept>
<concept>
<code value="289877"/>
<display value="Transient hyperammonemia of the newborn"/>
</concept>
<concept>
<code value="289891"/>
<display
value="Hypermethioninemia due to glycine N-methyltransferase deficiency"/>
</concept>
<concept>
<code value="2899"/>
<display value="Brachyolmia-amelogenesis imperfecta syndrome"/>
</concept>
<concept>
<code value="289916"/>
<display
value="Vitamin B12-unresponsive methylmalonic acidemia type mut0"/>
</concept>
<concept>
<code value="29"/>
<display value="Mevalonic aciduria"/>
</concept>
<concept>
<code value="290"/>
<display value="Congenital rubella syndrome"/>
</concept>
<concept>
<code value="2900"/>
<display value="Leri pleonosteosis"/>
</concept>
<concept>
<code value="2901"/>
<display value="Neuralgic amyotrophy"/>
</concept>
<concept>
<code value="2902"/>
<display value="Idiopathic chronic eosinophilic pneumonia"/>
</concept>
<concept>
<code value="2903"/>
<display value="Familial spontaneous pneumothorax"/>
</concept>
<concept>
<code value="2905"/>
<display value="POEMS syndrome"/>
</concept>
<concept>
<code value="2907"/>
<display value="Hereditary acrokeratotic poikiloderma"/>
</concept>
<concept>
<code value="29072"/>
<display value="Hereditary pheochromocytoma-paraganglioma"/>
</concept>
<concept>
<code value="29073"/>
<display value="Multiple myeloma"/>
</concept>
<concept>
<code value="2908"/>
<display value="Kindler epidermolysis bullosa"/>
</concept>
<concept>
<code value="2909"/>
<display value="Rothmund-Thomson syndrome"/>
</concept>
<concept>
<code value="291"/>
<display value="Congenital varicella syndrome"/>
</concept>
<concept>
<code value="2911"/>
<display value="Poland syndrome"/>
</concept>
<concept>
<code value="2912"/>
<display value="Poliomyelitis"/>
</concept>
<concept>
<code value="2916"/>
<display
value="Postaxial polydactyly-dental and vertebral anomalies syndrome"/>
</concept>
<concept>
<code value="2917"/>
<display value="Polydactyly-myopia syndrome"/>
</concept>
<concept>
<code value="2919"/>
<display value="Orofaciodigital syndrome type 5"/>
</concept>
<concept>
<code value="292"/>
<display value="Congenital enterovirus infection"/>
</concept>
<concept>
<code value="2920"/>
<display value="Oliver syndrome"/>
</concept>
<concept>
<code value="29207"/>
<display value="Reactive arthritis"/>
</concept>
<concept>
<code value="2921"/>
<display
value="Preaxial polydactyly-colobomata-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2924"/>
<display value="Isolated polycystic liver disease"/>
</concept>
<concept>
<code value="2926"/>
<display value="Digital extensor muscle aplasia-polyneuropathy"/>
</concept>
<concept>
<code value="2928"/>
<display
value="Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome"/>
</concept>
<concept>
<code value="2929"/>
<display value="Juvenile polyposis syndrome"/>
</concept>
<concept>
<code value="293"/>
<display value="Congenital herpes simplex virus infection"/>
</concept>
<concept>
<code value="2930"/>
<display value="Cronkhite-Canada syndrome"/>
</concept>
<concept>
<code value="293144"/>
<display value="Familial clubfoot due to 5q31 microdeletion"/>
</concept>
<concept>
<code value="293150"/>
<display value="Familial clubfoot due to PITX1 point mutation"/>
</concept>
<concept>
<code value="293165"/>
<display
value="Skin fragility-woolly hair-palmoplantar keratoderma syndrome"/>
</concept>
<concept>
<code value="293168"/>
<display
value="Infantile-onset ascending hereditary spastic paralysis"/>
</concept>
<concept>
<code value="293173"/>
<display value="Acute generalized exanthematous pustulosis"/>
</concept>
<concept>
<code value="293181"/>
<display value="Epilepsy of infancy with migrating focal seizures"/>
</concept>
<concept>
<code value="293199"/>
<display value="Pleomorphic rhabdomyosarcoma"/>
</concept>
<concept>
<code value="2932"/>
<display value="Chronic inflammatory demyelinating polyneuropathy"/>
</concept>
<concept>
<code value="293202"/>
<display value="Epithelioid sarcoma"/>
</concept>
<concept>
<code value="293208"/>
<display value="Celiac artery compression syndrome"/>
</concept>
<concept>
<code value="293284"/>
<display
value="Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"/>
</concept>
<concept>
<code value="293375"/>
<display value="Grayson-Wilbrandt corneal dystrophy"/>
</concept>
<concept>
<code value="293381"/>
<display value="Epithelial recurrent erosion dystrophy"/>
</concept>
<concept>
<code value="2934"/>
<display value="Polysyndactyly-cardiac malformation syndrome"/>
</concept>
<concept>
<code value="293462"/>
<display value="Pre-Descemet corneal dystrophy"/>
</concept>
<concept>
<code value="2935"/>
<display value="Crossed polysyndactyly"/>
</concept>
<concept>
<code value="293603"/>
<display value="Congenital hereditary endothelial dystrophy type II"/>
</concept>
<concept>
<code value="293621"/>
<display value="X-linked endothelial corneal dystrophy"/>
</concept>
<concept>
<code value="293633"/>
<display value="PYCR1-related De Barsy syndrome"/>
</concept>
<concept>
<code value="293707"/>
<display
value="Blepharophimosis-intellectual disability syndrome, MKB type"/>
</concept>
<concept>
<code value="293725"/>
<display
value="Blepharophimosis-intellectual disability syndrome, Verloes type"/>
</concept>
<concept>
<code value="293807"/>
<display value="Ketamine-induced biliary dilatation"/>
</concept>
<concept>
<code value="293812"/>
<display value="Fixed drug eruption"/>
</concept>
<concept>
<code value="293822"/>
<display
value="MITF-related melanoma and renal cell carcinoma predisposition syndrome"/>
</concept>
<concept>
<code value="293825"/>
<display value="Congenital dyserythropoietic anemia type IV"/>
</concept>
<concept>
<code value="293843"/>
<display value="3MC syndrome"/>
</concept>
<concept>
<code value="293864"/>
<display
value="Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"/>
</concept>
<concept>
<code value="293888"/>
<display
value="Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant"/>
</concept>
<concept>
<code value="293899"/>
<display
value="Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant"/>
</concept>
<concept>
<code value="293910"/>
<display
value="Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"/>
</concept>
<concept>
<code value="293925"/>
<display
value="Lethal occipital encephalocele-skeletal dysplasia syndrome"/>
</concept>
<concept>
<code value="293936"/>
<display value="EDICT syndrome"/>
</concept>
<concept>
<code value="293939"/>
<display value="Distal Xq28 microduplication syndrome"/>
</concept>
<concept>
<code value="293948"/>
<display value="1p21.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="293955"/>
<display
value="Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"/>
</concept>
<concept>
<code value="293958"/>
<display
value="Hypertelorism-preauricular sinus-punctual pits-deafness syndrome"/>
</concept>
<concept>
<code value="293964"/>
<display
value="Hypoinsulinemic hypoglycemia and body hemihypertrophy"/>
</concept>
<concept>
<code value="293967"/>
<display
value="Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome"/>
</concept>
<concept>
<code value="293978"/>
<display
value="Deficiency in anterior pituitary function-variable immunodeficiency syndrome"/>
</concept>
<concept>
<code value="293987"/>
<display
value="Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"/>
</concept>
<concept>
<code value="294"/>
<display value="Fetal cytomegalovirus syndrome"/>
</concept>
<concept>
<code value="2940"/>
<display value="Porencephaly"/>
</concept>
<concept>
<code value="294016"/>
<display value="Microcephaly-capillary malformation syndrome"/>
</concept>
<concept>
<code value="294023"/>
<display value="Neonatal inflammatory skin and bowel disease"/>
</concept>
<concept>
<code value="294026"/>
<display
value="Syndactyly-nystagmus syndrome due to 2q31.1 microduplication"/>
</concept>
<concept>
<code value="2941"/>
<display
value="Porencephaly-cerebellar hypoplasia-internal malformations syndrome"/>
</concept>
<concept>
<code value="2942"/>
<display value="Postpoliomyelitis syndrome"/>
</concept>
<concept>
<code value="294415"/>
<display value="Renal-hepatic-pancreatic dysplasia"/>
</concept>
<concept>
<code value="294422"/>
<display value="Chronic intestinal failure"/>
</concept>
<concept>
<code value="2946"/>
<display value="Brachydactyly-long thumb syndrome"/>
</concept>
<concept>
<code value="2947"/>
<display value="Triphalangeal thumbs-brachyectrodactyly syndrome"/>
</concept>
<concept>
<code value="294967"/>
<display value="Isolated amelia of upper limb"/>
</concept>
<concept>
<code value="294969"/>
<display value="Isolated amelia of lower limb"/>
</concept>
<concept>
<code value="294971"/>
<display value="Isolated tetra-amelia"/>
</concept>
<concept>
<code value="294973"/>
<display value="Isolated humeral agenesis/hypoplasia"/>
</concept>
<concept>
<code value="294975"/>
<display
value="Isolated absence of upper arm and forearm with hand present"/>
</concept>
<concept>
<code value="294977"/>
<display
value="Isolated absence of thigh and lower leg with foot present"/>
</concept>
<concept>
<code value="294979"/>
<display value="Isolated absence of both forearm and hand"/>
</concept>
<concept>
<code value="294981"/>
<display value="Isolated absence of both lower leg and foot"/>
</concept>
<concept>
<code value="294983"/>
<display value="Isolated acheiria"/>
</concept>
<concept>
<code value="294986"/>
<display value="Isolated apodia"/>
</concept>
<concept>
<code value="294988"/>
<display value="Isolated hypoplasia of thumb"/>
</concept>
<concept>
<code value="295"/>
<display value="Fetal parvovirus syndrome"/>
</concept>
<concept>
<code value="295000"/>
<display value="Amniotic band syndrome"/>
</concept>
<concept>
<code value="295002"/>
<display value="Isolated hyperphalangy"/>
</concept>
<concept>
<code value="295004"/>
<display value="Central polydactyly"/>
</concept>
<concept>
<code value="295012"/>
<display value="Syndactyly type 6"/>
</concept>
<concept>
<code value="295014"/>
<display value="Familial isolated clinodactyly of fingers"/>
</concept>
<concept>
<code value="295016"/>
<display value="Camptodactyly of fingers"/>
</concept>
<concept>
<code value="295018"/>
<display value="Congenital pseudoarthrosis of the tibia"/>
</concept>
<concept>
<code value="295020"/>
<display value="Congenital pseudoarthrosis of the femur"/>
</concept>
<concept>
<code value="295022"/>
<display value="Congenital pseudoarthrosis of the fibula"/>
</concept>
<concept>
<code value="295024"/>
<display value="Congenital pseudoarthrosis of the radius"/>
</concept>
<concept>
<code value="295026"/>
<display value="Congenital pseudoarthrosis of the ulna"/>
</concept>
<concept>
<code value="295028"/>
<display value="Isolated tibio-fibular synostosis"/>
</concept>
<concept>
<code value="295030"/>
<display value="True congenital shoulder dislocation"/>
</concept>
<concept>
<code value="295032"/>
<display value="Isolated congenital radial head dislocation"/>
</concept>
<concept>
<code value="295034"/>
<display value="Congenital knee dislocation"/>
</concept>
<concept>
<code value="295036"/>
<display value="Congenital patella dislocation"/>
</concept>
<concept>
<code value="295044"/>
<display value="Macrodactyly of fingers"/>
</concept>
<concept>
<code value="295047"/>
<display value="Macrodactyly of toes"/>
</concept>
<concept>
<code value="295049"/>
<display value="Upper limb hypertrophy"/>
</concept>
<concept>
<code value="295051"/>
<display value="Lower limb hypertrophy"/>
</concept>
<concept>
<code value="2951"/>
<display
value="Absent thumb-short stature-immunodeficiency syndrome"/>
</concept>
<concept>
<code value="295187"/>
<display value="Zygodactyly type 1"/>
</concept>
<concept>
<code value="295189"/>
<display value="Zygodactyly type 2"/>
</concept>
<concept>
<code value="295191"/>
<display value="Zygodactyly type 3"/>
</concept>
<concept>
<code value="295193"/>
<display value="Zygodactyly type 4"/>
</concept>
<concept>
<code value="295195"/>
<display value="Synpolydactyly type 1"/>
</concept>
<concept>
<code value="295197"/>
<display value="Synpolydactyly type 2"/>
</concept>
<concept>
<code value="295199"/>
<display value="Synpolydactyly type 3"/>
</concept>
<concept>
<code value="2952"/>
<display
value="Adducted thumbs-arthrogryposis syndrome, Christian type"/>
</concept>
<concept>
<code value="295201"/>
<display value="Congenital vertical talus, unilateral"/>
</concept>
<concept>
<code value="295203"/>
<display value="Congenital vertical talus, bilateral"/>
</concept>
<concept>
<code value="295225"/>
<display value="Congenital elbow dislocation, unilateral"/>
</concept>
<concept>
<code value="295227"/>
<display value="Congenital elbow dislocation, bilateral"/>
</concept>
<concept>
<code value="295229"/>
<display value="Congenital genu recurvatum"/>
</concept>
<concept>
<code value="295232"/>
<display value="Congenital genu flexum"/>
</concept>
<concept>
<code value="295239"/>
<display value="Macrodactyly of fingers, unilateral"/>
</concept>
<concept>
<code value="295241"/>
<display value="Macrodactyly of fingers, bilateral"/>
</concept>
<concept>
<code value="295243"/>
<display value="Macrodactyly of toes, unilateral"/>
</concept>
<concept>
<code value="295245"/>
<display value="Macrodactyly of toes, bilateral"/>
</concept>
<concept>
<code value="2953"/>
<display value="Musculocontractural Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="2956"/>
<display value="Acrodysplasia scoliosis"/>
</concept>
<concept>
<code value="2957"/>
<display value="Guttmacher syndrome"/>
</concept>
<concept>
<code value="2958"/>
<display
value="X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"/>
</concept>
<concept>
<code value="2959"/>
<display value="Progeria-short stature-pigmented nevi syndrome"/>
</concept>
<concept>
<code value="296"/>
<display value="Ollier disease"/>
</concept>
<concept>
<code value="2962"/>
<display value="De Barsy syndrome"/>
</concept>
<concept>
<code value="2963"/>
<display value="Progeroid syndrome, Petty type"/>
</concept>
<concept>
<code value="2964"/>
<display value="Autosomal dominant prognathism"/>
</concept>
<concept>
<code value="2965"/>
<display value="Prolactinoma"/>
</concept>
<concept>
<code value="2966"/>
<display value="Properdin deficiency"/>
</concept>
<concept>
<code value="2967"/>
<display value="Transcobalamin I deficiency"/>
</concept>
<concept>
<code value="2968"/>
<display value="Leukocyte adhesion deficiency"/>
</concept>
<concept>
<code value="2969"/>
<display value="Proteus-like syndrome"/>
</concept>
<concept>
<code value="297"/>
<display value="Tick-borne encephalitis"/>
</concept>
<concept>
<code value="2970"/>
<display value="Prune belly syndrome"/>
</concept>
<concept>
<code value="2971"/>
<display value="Peroxisomal acyl-CoA oxidase deficiency"/>
</concept>
<concept>
<code value="2972"/>
<display
value="Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome"/>
</concept>
<concept>
<code value="2973"/>
<display
value="46,XX difference of sex development-anorectal anomalies syndrome"/>
</concept>
<concept>
<code value="2975"/>
<display
value="46,XX difference of sex development-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="2976"/>
<display value="Pseudoleprechaunism syndrome, Patterson type"/>
</concept>
<concept>
<code value="2978"/>
<display value="Chronic intestinal pseudoobstruction syndrome"/>
</concept>
<concept>
<code value="298"/>
<display
value="Mitochondrial neurogastrointestinal encephalomyopathy"/>
</concept>
<concept>
<code value="2980"/>
<display value="Acrootoocular syndrome"/>
</concept>
<concept>
<code value="29822"/>
<display value="Spontaneous periodic hypothermia"/>
</concept>
<concept>
<code value="2983"/>
<display
value="Difference of sex development-intellectual disability syndrome"/>
</concept>
<concept>
<code value="2985"/>
<display value="Pseudoprogeria syndrome"/>
</concept>
<concept>
<code value="2987"/>
<display value="Antecubital pterygium syndrome"/>
</concept>
<concept>
<code value="2988"/>
<display
value="Pterygium colli-intellectual disability-digital anomalies syndrome"/>
</concept>
<concept>
<code value="2989"/>
<display value="Familial pterygium of the conjunctiva"/>
</concept>
<concept>
<code value="2990"/>
<display value="Autosomal recessive multiple pterygium syndrome"/>
</concept>
<concept>
<code value="2994"/>
<display
value="Short stature-craniofacial anomalies-genital hypoplasia syndrome"/>
</concept>
<concept>
<code value="2995"/>
<display value="Baraitser-Winter cerebrofrontofacial syndrome"/>
</concept>
<concept>
<code value="2997"/>
<display value="Ptosis-vocal cord paralysis syndrome"/>
</concept>
<concept>
<code value="2999"/>
<display value="Ptosis-strabismus-ectopic pupils syndrome"/>
</concept>
<concept>
<code value="30"/>
<display value="Hereditary orotic aciduria"/>
</concept>
<concept>
<code value="300"/>
<display value="Bifunctional enzyme deficiency"/>
</concept>
<concept>
<code value="3000"/>
<display value="Familial peripheral male-limited precocious puberty"/>
</concept>
<concept>
<code value="300179"/>
<display
value="Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"/>
</concept>
<concept>
<code value="3002"/>
<display value="Immune thrombocytopenia"/>
</concept>
<concept>
<code value="300284"/>
<display
value="Connective tissue disorder due to lysyl hydroxylase-3 deficiency"/>
</concept>
<concept>
<code value="300293"/>
<display
value="Transient infantile hypertriglyceridemia and hepatosteatosis"/>
</concept>
<concept>
<code value="300298"/>
<display
value="Severe congenital hypochromic anemia with ringed sideroblasts"/>
</concept>
<concept>
<code value="3003"/>
<display value="Pyknoachondrogenesis"/>
</concept>
<concept>
<code value="300305"/>
<display value="11p15.4 microduplication syndrome"/>
</concept>
<concept>
<code value="300313"/>
<display
value="Congenital cataract-hearing loss-severe developmental delay syndrome"/>
</concept>
<concept>
<code value="300319"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2P"/>
</concept>
<concept>
<code value="300324"/>
<display value="Persistent polyclonal B-cell lymphocytosis"/>
</concept>
<concept>
<code value="300333"/>
<display
value="Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"/>
</concept>
<concept>
<code value="300345"/>
<display value="Autosomal systemic lupus erythematosus"/>
</concept>
<concept>
<code value="300359"/>
<display
value="PLCG2-associated antibody deficiency and immune dysregulation"/>
</concept>
<concept>
<code value="300373"/>
<display value="X-linked acrogigantism"/>
</concept>
<concept>
<code value="300382"/>
<display
value="Progeroid and marfanoid aspect-lipodystrophy syndrome"/>
</concept>
<concept>
<code value="300385"/>
<display value="Pituitary carcinoma"/>
</concept>
<concept>
<code value="3004"/>
<display
value="Mirror polydactyly-vertebral segmentation-limbs defects syndrome"/>
</concept>
<concept>
<code value="300493"/>
<display value="Sagliker syndrome"/>
</concept>
<concept>
<code value="300496"/>
<display
value="Multiple congenital anomalies-hypotonia-seizures syndrome type 2"/>
</concept>
<concept>
<code value="3005"/>
<display value="Pyle disease"/>
</concept>
<concept>
<code value="300501"/>
<display
value="Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"/>
</concept>
<concept>
<code value="300504"/>
<display value="Onychocytic matricoma"/>
</concept>
<concept>
<code value="300512"/>
<display value="Onychomatricoma"/>
</concept>
<concept>
<code value="300525"/>
<display value="Pseudohypoaldosteronism type 2D"/>
</concept>
<concept>
<code value="300530"/>
<display value="Pseudohypoaldosteronism type 2E"/>
</concept>
<concept>
<code value="300536"/>
<display value="DDOST-CDG"/>
</concept>
<concept>
<code value="300547"/>
<display value="Autosomal recessive infantile hypercalcemia"/>
</concept>
<concept>
<code value="300552"/>
<display value="Follicular cholangitis and pancreatitis"/>
</concept>
<concept>
<code value="300557"/>
<display value="Carcinoma of the ampulla of Vater"/>
</concept>
<concept>
<code value="300564"/>
<display value="Combined pulmonary fibrosis-emphysema syndrome"/>
</concept>
<concept>
<code value="300570"/>
<display
value="Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"/>
</concept>
<concept>
<code value="300573"/>
<display value="Polymicrogyria due to TUBB2B mutation"/>
</concept>
<concept>
<code value="3006"/>
<display
value="Pyridoxine-dependent-developmental and epileptic encephalopathy"/>
</concept>
<concept>
<code value="300605"/>
<display value="Juvenile amyotrophic lateral sclerosis"/>
</concept>
<concept>
<code value="300751"/>
<display
value="Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"/>
</concept>
<concept>
<code value="3008"/>
<display value="Pyruvate carboxylase deficiency"/>
</concept>
<concept>
<code value="300849"/>
<display
value="Diffuse large B-cell lymphoma of the central nervous system"/>
</concept>
<concept>
<code value="300857"/>
<display value="T-cell/histiocyte rich large B cell lymphoma"/>
</concept>
<concept>
<code value="300865"/>
<display value="Primary cutaneous anaplastic large cell lymphoma"/>
</concept>
<concept>
<code value="300869"/>
<display value="Splenic diffuse red pulp small B-cell lymphoma"/>
</concept>
<concept>
<code value="300878"/>
<display value="Hairy cell leukemia variant"/>
</concept>
<concept>
<code value="300888"/>
<display
value="Diffuse large B-cell lymphoma with chronic inflammation"/>
</concept>
<concept>
<code value="300895"/>
<display value="ALK-positive anaplastic large cell lymphoma"/>
</concept>
<concept>
<code value="300903"/>
<display value="ALK-negative anaplastic large cell lymphoma"/>
</concept>
<concept>
<code value="3010"/>
<display value="Qazi-Markouizos syndrome"/>
</concept>
<concept>
<code value="3011"/>
<display
value="Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"/>
</concept>
<concept>
<code value="3015"/>
<display value="Radio-renal syndrome"/>
</concept>
<concept>
<code value="3016"/>
<display value="Absent radius-anogenital anomalies syndrome"/>
</concept>
<concept>
<code value="3018"/>
<display
value="Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"/>
</concept>
<concept>
<code value="3019"/>
<display value="Ramon syndrome"/>
</concept>
<concept>
<code value="302"/>
<display value="Inherited epidermodysplasia verruciformis"/>
</concept>
<concept>
<code value="3020"/>
<display value="Ramsay Hunt syndrome"/>
</concept>
<concept>
<code value="3021"/>
<display value="RAPADILINO syndrome"/>
</concept>
<concept>
<code value="3023"/>
<display
value="External auditory canal atresia-vertical talus-hypertelorism syndrome"/>
</concept>
<concept>
<code value="3026"/>
<display value="Radial ray hypoplasia-choanal atresia syndrome"/>
</concept>
<concept>
<code value="3027"/>
<display value="Caudal regression syndrome"/>
</concept>
<concept>
<code value="3032"/>
<display value="NPHP3-related Meckel-like syndrome"/>
</concept>
<concept>
<code value="3033"/>
<display value="Renal tubular dysgenesis"/>
</concept>
<concept>
<code value="3034"/>
<display value="Delayed membranous cranial ossification"/>
</concept>
<concept>
<code value="3035"/>
<display value="Growth delay-hydrocephaly-lung hypoplasia syndrome"/>
</concept>
<concept>
<code value="3038"/>
<display
value="Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"/>
</concept>
<concept>
<code value="30391"/>
<display value="Isolated biliary atresia"/>
</concept>
<concept>
<code value="3041"/>
<display
value="Intellectual disability-balding-patella luxation-acromicria syndrome"/>
</concept>
<concept>
<code value="3042"/>
<display
value="Intellectual disability-cataracts-calcified pinnae-myopathy syndrome"/>
</concept>
<concept>
<code value="3044"/>
<display
value="Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"/>
</concept>
<concept>
<code value="3047"/>
<display
value="Blepharophimosis-intellectual disability syndrome, SBBYS type"/>
</concept>
<concept>
<code value="3051"/>
<display value="Nicolaides-Baraitser syndrome"/>
</concept>
<concept>
<code value="3052"/>
<display
value="X-linked intellectual disability-seizures-psoriasis syndrome"/>
</concept>
<concept>
<code value="3055"/>
<display
value="X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"/>
</concept>
<concept>
<code value="3057"/>
<display value="Monoamine oxidase A deficiency"/>
</concept>
<concept>
<code value="306"/>
<display value="Self-limited infantile epilepsy"/>
</concept>
<concept>
<code value="3063"/>
<display value="X-linked intellectual disability, Snyder type"/>
</concept>
<concept>
<code value="306431"/>
<display
value="Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies"/>
</concept>
<concept>
<code value="306498"/>
<display value="PTEN hamartoma tumor syndrome"/>
</concept>
<concept>
<code value="306504"/>
<display
value="Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome"/>
</concept>
<concept>
<code value="306511"/>
<display value="Autosomal recessive spastic paraplegia type 48"/>
</concept>
<concept>
<code value="306516"/>
<display
value="Primary hypomagnesemia with hypercalciuria and nephrocalcinosis"/>
</concept>
<concept>
<code value="306527"/>
<display value="Isolated hereditary congenital facial paralysis"/>
</concept>
<concept>
<code value="306530"/>
<display
value="Congenital hereditary facial paralysis-variable hearing loss syndrome"/>
</concept>
<concept>
<code value="306542"/>
<display
value="Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"/>
</concept>
<concept>
<code value="306547"/>
<display
value="Porencephaly-microcephaly-bilateral congenital cataract syndrome"/>
</concept>
<concept>
<code value="306550"/>
<display value="FADD-related immunodeficiency"/>
</concept>
<concept>
<code value="306553"/>
<display value="Myospherulosis"/>
</concept>
<concept>
<code value="306558"/>
<display
value="Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"/>
</concept>
<concept>
<code value="306577"/>
<display
value="Hereditary sodium channelopathy-related small fibers neuropathy"/>
</concept>
<concept>
<code value="306617"/>
<display value="X-linked complicated spastic paraplegia type 1"/>
</concept>
<concept>
<code value="306644"/>
<display value="Complication after organ transplantation"/>
</concept>
<concept>
<code value="306658"/>
<display value="Familial normophosphatemic tumoral calcinosis"/>
</concept>
<concept>
<code value="306661"/>
<display
value="Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"/>
</concept>
<concept>
<code value="306669"/>
<display value="Hemiparkinsonism-hemiatrophy syndrome"/>
</concept>
<concept>
<code value="306674"/>
<display value="Kufor-Rakeb syndrome"/>
</concept>
<concept>
<code value="306682"/>
<display value="Manganese poisoning"/>
</concept>
<concept>
<code value="306686"/>
<display
value="Delayed encephalopathy due to carbon monoxide poisoning"/>
</concept>
<concept>
<code value="306692"/>
<display value="Cyanide-induced parkinsonism-dystonia"/>
</concept>
<concept>
<code value="306731"/>
<display value="Sydenham chorea"/>
</concept>
<concept>
<code value="306734"/>
<display value="Primary dystonia, DYT21 type"/>
</concept>
<concept>
<code value="306741"/>
<display value="Hemidystonia-hemiatrophy syndrome"/>
</concept>
<concept>
<code value="306776"/>
<display value="Sporadic hyperekplexia"/>
</concept>
<concept>
<code value="3068"/>
<display
value="Intellectual disability-myopathy-short stature-endocrine defect syndrome"/>
</concept>
<concept>
<code value="307"/>
<display value="Juvenile myoclonic epilepsy"/>
</concept>
<concept>
<code value="3071"/>
<display value="Costello syndrome"/>
</concept>
<concept>
<code value="3074"/>
<display
value="Intellectual disability-short stature-hypertelorism syndrome"/>
</concept>
<concept>
<code value="3077"/>
<display
value="X-linked intellectual disability-psychosis-macroorchidism syndrome"/>
</concept>
<concept>
<code value="307766"/>
<display value="Curly hair-acral keratoderma-caries syndrome"/>
</concept>
<concept>
<code value="3078"/>
<display
value="Severe X-linked intellectual disability, Gustavson type"/>
</concept>
<concept>
<code value="3079"/>
<display value="Intellectual disability, Buenos-Aires type"/>
</concept>
<concept>
<code value="307936"/>
<display
value="Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome"/>
</concept>
<concept>
<code value="308"/>
<display value="Progressive myoclonic epilepsy type 1"/>
</concept>
<concept>
<code value="3080"/>
<display value="Intellectual disability, Wolff type"/>
</concept>
<concept>
<code value="308013"/>
<display value="Focal acral hyperkeratosis"/>
</concept>
<concept>
<code value="3082"/>
<display
value="Intellectual disability-polydactyly-uncombable hair syndrome"/>
</concept>
<concept>
<code value="308380"/>
<display value="Methylcobalamin deficiency type cblDv1"/>
</concept>
<concept>
<code value="308386"/>
<display
value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"/>
</concept>
<concept>
<code value="308393"/>
<display
value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"/>
</concept>
<concept>
<code value="308400"/>
<display
value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"/>
</concept>
<concept>
<code value="308410"/>
<display
value="Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"/>
</concept>
<concept>
<code value="308425"/>
<display
value="Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"/>
</concept>
<concept>
<code value="308442"/>
<display
value="Vitamin B12-responsive methylmalonic acidemia, type cblDv2"/>
</concept>
<concept>
<code value="308473"/>
<display value="Erythrocyte galactose epimerase deficiency"/>
</concept>
<concept>
<code value="308487"/>
<display value="Generalized galactose epimerase deficiency"/>
</concept>
<concept>
<code value="3085"/>
<display
value="Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"/>
</concept>
<concept>
<code value="308552"/>
<display
value="Glycogen storage disease due to acid maltase deficiency, infantile onset"/>
</concept>
<concept>
<code value="3086"/>
<display value="Autosomal dominant vitreoretinochoroidopathy"/>
</concept>
<concept>
<code value="308621"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"/>
</concept>
<concept>
<code value="308638"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"/>
</concept>
<concept>
<code value="308655"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"/>
</concept>
<concept>
<code value="308670"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"/>
</concept>
<concept>
<code value="308684"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"/>
</concept>
<concept>
<code value="308698"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"/>
</concept>
<concept>
<code value="308712"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"/>
</concept>
<concept>
<code value="3088"/>
<display value="Revesz syndrome"/>
</concept>
<concept>
<code value="309015"/>
<display value="Familial lipoprotein lipase deficiency"/>
</concept>
<concept>
<code value="309020"/>
<display value="Familial apolipoprotein C-II deficiency"/>
</concept>
<concept>
<code value="309025"/>
<display value="Mevalonate kinase deficiency"/>
</concept>
<concept>
<code value="309031"/>
<display value="Pancreatic triacylglycerol lipase deficiency"/>
</concept>
<concept>
<code value="309108"/>
<display value="Pancreatic colipase deficiency"/>
</concept>
<concept>
<code value="309111"/>
<display value="Combined pancreatic lipase-colipase deficiency"/>
</concept>
<concept>
<code value="309147"/>
<display value="Hyper-beta-alaninemia"/>
</concept>
<concept>
<code value="309155"/>
<display value="Sandhoff disease, infantile form"/>
</concept>
<concept>
<code value="309162"/>
<display value="Sandhoff disease, juvenile form"/>
</concept>
<concept>
<code value="309169"/>
<display value="Sandhoff disease, adult form"/>
</concept>
<concept>
<code value="309178"/>
<display value="Tay-Sachs disease, infantile form"/>
</concept>
<concept>
<code value="309185"/>
<display value="Tay-Sachs disease, juvenile form"/>
</concept>
<concept>
<code value="309192"/>
<display value="Tay-Sachs disease, adult form"/>
</concept>
<concept>
<code value="3092"/>
<display value="Fixed subaortic stenosis"/>
</concept>
<concept>
<code value="30924"/>
<display value="Primary hypomagnesemia with secondary hypocalcemia"/>
</concept>
<concept>
<code value="309246"/>
<display value="GM2 gangliosidosis, AB variant"/>
</concept>
<concept>
<code value="30925"/>
<display value="Hereditary arginine vasopressin deficiency"/>
</concept>
<concept>
<code value="309252"/>
<display
value="Atypical Gaucher disease due to saposin C deficiency"/>
</concept>
<concept>
<code value="309256"/>
<display value="Metachromatic leukodystrophy, late infantile form"/>
</concept>
<concept>
<code value="309263"/>
<display value="Metachromatic leukodystrophy, juvenile form"/>
</concept>
<concept>
<code value="309271"/>
<display value="Metachromatic leukodystrophy, adult form"/>
</concept>
<concept>
<code value="309282"/>
<display value="Alpha-mannosidosis, infantile form"/>
</concept>
<concept>
<code value="309288"/>
<display value="Alpha-mannosidosis, adult form"/>
</concept>
<concept>
<code value="309297"/>
<display value="Mucopolysaccharidosis type 4A"/>
</concept>
<concept>
<code value="3093"/>
<display value="Congenital aortic valve stenosis"/>
</concept>
<concept>
<code value="309310"/>
<display value="Mucopolysaccharidosis type 4B"/>
</concept>
<concept>
<code value="309324"/>
<display value="Free sialic acid storage disease, infantile form"/>
</concept>
<concept>
<code value="309331"/>
<display value="Intermediate severe Salla disease"/>
</concept>
<concept>
<code value="309334"/>
<display value="Salla disease"/>
</concept>
<concept>
<code value="3095"/>
<display value="Atypical Rett syndrome"/>
</concept>
<concept>
<code value="3096"/>
<display value="Reye syndrome"/>
</concept>
<concept>
<code value="3097"/>
<display value="Meacham syndrome"/>
</concept>
<concept>
<code value="309789"/>
<display value="Rhizomelic chondrodysplasia punctata type 1"/>
</concept>
<concept>
<code value="309796"/>
<display value="Rhizomelic chondrodysplasia punctata type 2"/>
</concept>
<concept>
<code value="3098"/>
<display value="Rhizomelic syndrome, Urbach type"/>
</concept>
<concept>
<code value="309803"/>
<display value="Rhizomelic chondrodysplasia punctata type 3"/>
</concept>
<concept>
<code value="309854"/>
<display
value="Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"/>
</concept>
<concept>
<code value="3099"/>
<display value="Rheumatic fever"/>
</concept>
<concept>
<code value="31"/>
<display value="Oxoglutaric aciduria"/>
</concept>
<concept>
<code value="3101"/>
<display value="Richieri Costa-da Silva syndrome"/>
</concept>
<concept>
<code value="3102"/>
<display value="Richieri Costa-Pereira syndrome"/>
</concept>
<concept>
<code value="3103"/>
<display value="Roberts syndrome"/>
</concept>
<concept>
<code value="3104"/>
<display value="Robin sequence-oligodactyly syndrome"/>
</concept>
<concept>
<code value="31043"/>
<display
value="Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"/>
</concept>
<concept>
<code value="3107"/>
<display value="Autosomal dominant Robinow syndrome"/>
</concept>
<concept>
<code value="3109"/>
<display value="Mayer-Rokitansky-Küster-Hauser syndrome"/>
</concept>
<concept>
<code value="3110"/>
<display value="Rombo syndrome"/>
</concept>
<concept>
<code value="3111"/>
<display value="Rotor syndrome"/>
</concept>
<concept>
<code value="31112"/>
<display value="Dermatofibrosarcoma protuberans"/>
</concept>
<concept>
<code value="3115"/>
<display value="Roussy-Lévy syndrome"/>
</concept>
<concept>
<code value="31150"/>
<display value="Tangier disease"/>
</concept>
<concept>
<code value="312"/>
<display value="Autosomal dominant epidermolytic ichthyosis"/>
</concept>
<concept>
<code value="31202"/>
<display value="Melioidosis"/>
</concept>
<concept>
<code value="31204"/>
<display value="Nocardiosis"/>
</concept>
<concept>
<code value="31205"/>
<display value="Rat-bite fever"/>
</concept>
<concept>
<code value="3121"/>
<display value="Ruvalcaba syndrome"/>
</concept>
<concept>
<code value="3124"/>
<display value="Saccharopinuria"/>
</concept>
<concept>
<code value="3129"/>
<display value="Sarcosinemia"/>
</concept>
<concept>
<code value="313"/>
<display value="Lamellar ichthyosis"/>
</concept>
<concept>
<code value="3130"/>
<display value="Satoyoshi syndrome"/>
</concept>
<concept>
<code value="3132"/>
<display value="Say-Barber-Miller syndrome"/>
</concept>
<concept>
<code value="3134"/>
<display value="SCARF syndrome"/>
</concept>
<concept>
<code value="3137"/>
<display value="Alpha-N-acetylgalactosaminidase deficiency"/>
</concept>
<concept>
<code value="313772"/>
<display
value="Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"/>
</concept>
<concept>
<code value="313781"/>
<display value="20p13 microdeletion syndrome"/>
</concept>
<concept>
<code value="313795"/>
<display value="Jawad syndrome"/>
</concept>
<concept>
<code value="3138"/>
<display value="Ulnar-mammary syndrome"/>
</concept>
<concept>
<code value="313800"/>
<display
value="Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"/>
</concept>
<concept>
<code value="313808"/>
<display
value="Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia"/>
</concept>
<concept>
<code value="313838"/>
<display value="Coats plus syndrome"/>
</concept>
<concept>
<code value="313846"/>
<display
value="Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"/>
</concept>
<concept>
<code value="313850"/>
<display value="Infantile cerebellar-retinal degeneration"/>
</concept>
<concept>
<code value="313855"/>
<display value="FGFR2-related bent bone dysplasia"/>
</concept>
<concept>
<code value="313884"/>
<display value="12p12.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="313892"/>
<display
value="Developmental and speech delay due to SOX5 deficiency"/>
</concept>
<concept>
<code value="313906"/>
<display value="Congenital pancreatic cyst"/>
</concept>
<concept>
<code value="313920"/>
<display value="Epstein-Barr virus-associated gastric carcinoma"/>
</concept>
<concept>
<code value="313936"/>
<display value="PENS syndrome"/>
</concept>
<concept>
<code value="313947"/>
<display value="2q23.1 microduplication syndrome"/>
</concept>
<concept>
<code value="314"/>
<display value="Erythroderma desquamativum"/>
</concept>
<concept>
<code value="314002"/>
<display
value="Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome"/>
</concept>
<concept>
<code value="314017"/>
<display value="Idiopathic linear interstitial keratitis"/>
</concept>
<concept>
<code value="314022"/>
<display
value="Gastric adenocarcinoma and proximal polyposis of the stomach"/>
</concept>
<concept>
<code value="314029"/>
<display value="High bone mass osteogenesis imperfecta"/>
</concept>
<concept>
<code value="314034"/>
<display value="7p22.1 microduplication syndrome"/>
</concept>
<concept>
<code value="314041"/>
<display
value="Marfanoid habitus-inguinal hernia-advanced bone age syndrome"/>
</concept>
<concept>
<code value="314051"/>
<display
value="Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"/>
</concept>
<concept>
<code value="3143"/>
<display value="Autoimmune polyendocrinopathy type 2"/>
</concept>
<concept>
<code value="314373"/>
<display
value="Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"/>
</concept>
<concept>
<code value="314376"/>
<display
value="Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"/>
</concept>
<concept>
<code value="314381"/>
<display value="Hereditary sensory and autonomic neuropathy type 6"/>
</concept>
<concept>
<code value="314389"/>
<display value="Xq12-q13.3 duplication syndrome"/>
</concept>
<concept>
<code value="314394"/>
<display
value="Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"/>
</concept>
<concept>
<code value="314399"/>
<display value="Autosomal dominant aplasia and myelodysplasia"/>
</concept>
<concept>
<code value="3144"/>
<display value="Schneckenbecken dysplasia"/>
</concept>
<concept>
<code value="314404"/>
<display
value="Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"/>
</concept>
<concept>
<code value="314419"/>
<display value="Ameloblastoma"/>
</concept>
<concept>
<code value="314422"/>
<display value="Ameloblastic carcinoma"/>
</concept>
<concept>
<code value="314432"/>
<display value="Spigelian hernia-cryptorchidism syndrome"/>
</concept>
<concept>
<code value="314451"/>
<display value="Meigs syndrome"/>
</concept>
<concept>
<code value="314459"/>
<display value="Pseudo-Meigs syndrome"/>
</concept>
<concept>
<code value="314466"/>
<display value="Atypical Meigs syndrome"/>
</concept>
<concept>
<code value="314473"/>
<display value="Ovarian fibroma"/>
</concept>
<concept>
<code value="314478"/>
<display value="Ovarian fibrothecoma"/>
</concept>
<concept>
<code value="314485"/>
<display
value="Young adult-onset distal hereditary motor neuropathy"/>
</concept>
<concept>
<code value="3145"/>
<display
value="Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="314555"/>
<display
value="Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome"/>
</concept>
<concept>
<code value="314566"/>
<display value="Primary progressive apraxia of speech"/>
</concept>
<concept>
<code value="314572"/>
<display
value="Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"/>
</concept>
<concept>
<code value="314575"/>
<display
value="Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"/>
</concept>
<concept>
<code value="314585"/>
<display value="15q overgrowth syndrome"/>
</concept>
<concept>
<code value="314588"/>
<display value="Distal triplication 15q syndrome"/>
</concept>
<concept>
<code value="314597"/>
<display value="Chudley-McCullough syndrome"/>
</concept>
<concept>
<code value="314603"/>
<display
value="Autosomal recessive spastic ataxia with leukoencephalopathy"/>
</concept>
<concept>
<code value="314613"/>
<display value="Growing teratoma syndrome"/>
</concept>
<concept>
<code value="314621"/>
<display value="Duplication of the pituitary gland"/>
</concept>
<concept>
<code value="314629"/>
<display value="CLN11 disease"/>
</concept>
<concept>
<code value="314632"/>
<display value="CLN12 disease"/>
</concept>
<concept>
<code value="314637"/>
<display
value="Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"/>
</concept>
<concept>
<code value="314647"/>
<display
value="Non-progressive cerebellar ataxia with intellectual disability"/>
</concept>
<concept>
<code value="314652"/>
<display value="Variant ABeta2M amyloidosis"/>
</concept>
<concept>
<code value="314655"/>
<display
value="Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"/>
</concept>
<concept>
<code value="314662"/>
<display
value="Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"/>
</concept>
<concept>
<code value="314667"/>
<display value="TMEM165-CDG"/>
</concept>
<concept>
<code value="314679"/>
<display value="Cerebrofacioarticular syndrome"/>
</concept>
<concept>
<code value="314684"/>
<display value="Primary bone lymphoma"/>
</concept>
<concept>
<code value="314689"/>
<display value="Combined immunodeficiency due to STK4 deficiency"/>
</concept>
<concept>
<code value="314697"/>
<display value="Acquired porencephaly"/>
</concept>
<concept>
<code value="314701"/>
<display value="Primary systemic amyloidosis"/>
</concept>
<concept>
<code value="314709"/>
<display value="Primary localized amyloidosis"/>
</concept>
<concept>
<code value="314718"/>
<display
value="Lethal arteriopathy syndrome due to fibulin-4 deficiency"/>
</concept>
<concept>
<code value="314721"/>
<display value="Atypical dentin dysplasia due to SMOC2 deficiency"/>
</concept>
<concept>
<code value="314769"/>
<display value="Somatomammotropinoma"/>
</concept>
<concept>
<code value="314777"/>
<display value="Familial isolated pituitary adenoma"/>
</concept>
<concept>
<code value="314786"/>
<display value="Silent pituitary adenoma"/>
</concept>
<concept>
<code value="314790"/>
<display value="Null pituitary adenoma"/>
</concept>
<concept>
<code value="314795"/>
<display value="SHOX-related short stature"/>
</concept>
<concept>
<code value="3148"/>
<display value="Malignant peripheral nerve sheath tumor"/>
</concept>
<concept>
<code value="314802"/>
<display value="Short stature due to partial GHR deficiency"/>
</concept>
<concept>
<code value="314811"/>
<display value="Short stature due to GHSR deficiency"/>
</concept>
<concept>
<code value="314889"/>
<display value="Autosomal dominant proximal renal tubular acidosis"/>
</concept>
<concept>
<code value="314911"/>
<display value="Severe Canavan disease"/>
</concept>
<concept>
<code value="314918"/>
<display value="Mild Canavan disease"/>
</concept>
<concept>
<code value="314950"/>
<display value="Primary hypereosinophilic syndrome"/>
</concept>
<concept>
<code value="314962"/>
<display value="Secondary hypereosinophilic syndrome"/>
</concept>
<concept>
<code value="314970"/>
<display value="Lymphocytic hypereosinophilic syndrome"/>
</concept>
<concept>
<code value="314978"/>
<display value="X-linked non progressive cerebellar ataxia"/>
</concept>
<concept>
<code value="314993"/>
<display
value="Cataract-congenital heart disease-neural tube defect syndrome"/>
</concept>
<concept>
<code value="315"/>
<display value="Erythrokeratoderma ''en cocardes''"/>
</concept>
<concept>
<code value="3151"/>
<display
value="Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"/>
</concept>
<concept>
<code value="3152"/>
<display value="Sclerosteosis"/>
</concept>
<concept>
<code value="315306"/>
<display
value="Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"/>
</concept>
<concept>
<code value="315311"/>
<display
value="Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"/>
</concept>
<concept>
<code value="3156"/>
<display value="Senior-Loken syndrome"/>
</concept>
<concept>
<code value="3157"/>
<display value="Septo-optic dysplasia spectrum"/>
</concept>
<concept>
<code value="316"/>
<display value="Progressive symmetric erythrokeratodermia"/>
</concept>
<concept>
<code value="3161"/>
<display value="Congenital pulmonary sequestration"/>
</concept>
<concept>
<code value="3162"/>
<display value="Sézary syndrome"/>
</concept>
<concept>
<code value="3163"/>
<display value="SHORT syndrome"/>
</concept>
<concept>
<code value="3164"/>
<display value="Omphalocele syndrome, Shprintzen-Goldberg type"/>
</concept>
<concept>
<code value="3165"/>
<display value="Eosinophilic fasciitis"/>
</concept>
<concept>
<code value="3166"/>
<display value="Sialuria"/>
</concept>
<concept>
<code value="3167"/>
<display value="Siegler-Brewer-Carey syndrome"/>
</concept>
<concept>
<code value="3168"/>
<display value="Sillence syndrome"/>
</concept>
<concept>
<code value="3169"/>
<display value="Sirenomelia"/>
</concept>
<concept>
<code value="317"/>
<display value="Erythrokeratodermia variabilis"/>
</concept>
<concept>
<code value="31709"/>
<display value="Infantile convulsions and choreoathetosis"/>
</concept>
<concept>
<code value="3172"/>
<display value="Eyebrow duplication-syndactyly syndrome"/>
</concept>
<concept>
<code value="3173"/>
<display value="Infantile spasms-broad thumbs syndrome"/>
</concept>
<concept>
<code value="31740"/>
<display value="Hypersensitivity pneumonitis"/>
</concept>
<concept>
<code value="317425"/>
<display
value="Severe combined immunodeficiency due to DNA-PKcs deficiency"/>
</concept>
<concept>
<code value="317428"/>
<display value="Combined immunodeficiency due to ORAI1 deficiency"/>
</concept>
<concept>
<code value="317430"/>
<display value="Combined immunodeficiency due to STIM1 deficiency"/>
</concept>
<concept>
<code value="317473"/>
<display
value="Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency"/>
</concept>
<concept>
<code value="317476"/>
<display value="XMEN"/>
</concept>
<concept>
<code value="3175"/>
<display
value="X-linked spasticity-intellectual disability-epilepsy syndrome"/>
</concept>
<concept>
<code value="3176"/>
<display value="Spina bifida-hypospadias syndrome"/>
</concept>
<concept>
<code value="3177"/>
<display
value="Spinocerebellar degeneration-corneal dystrophy syndrome"/>
</concept>
<concept>
<code value="318"/>
<display value="Acute erythroid leukemia"/>
</concept>
<concept>
<code value="3180"/>
<display value="Spondylocamptodactyly syndrome"/>
</concept>
<concept>
<code value="3181"/>
<display value="Sprengel deformity"/>
</concept>
<concept>
<code value="31824"/>
<display value="Colchicine poisoning"/>
</concept>
<concept>
<code value="31825"/>
<display value="Methanol poisoning"/>
</concept>
<concept>
<code value="31826"/>
<display value="Ethylene glycol poisoning"/>
</concept>
<concept>
<code value="31827"/>
<display value="Paraquat poisoning"/>
</concept>
<concept>
<code value="31828"/>
<display value="Digitalis poisoning"/>
</concept>
<concept>
<code value="31837"/>
<display value="Pulmonary venoocclusive disease"/>
</concept>
<concept>
<code value="3184"/>
<display value="Steatocystoma multiplex-natal teeth syndrome"/>
</concept>
<concept>
<code value="3186"/>
<display
value="Holoprosencephaly-radial heart renal anomalies syndrome"/>
</concept>
<concept>
<code value="3189"/>
<display value="Congenital pulmonary valvar stenosis"/>
</concept>
<concept>
<code value="319"/>
<display value="Skeletal Ewing sarcoma"/>
</concept>
<concept>
<code value="3190"/>
<display value="Subpulmonary stenosis"/>
</concept>
<concept>
<code value="3191"/>
<display value="Subaortic stenosis-short stature syndrome"/>
</concept>
<concept>
<code value="319160"/>
<display
value="Congenital myopathy with internal nuclei and atypical cores"/>
</concept>
<concept>
<code value="319171"/>
<display value="Distal 17p13.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="319182"/>
<display value="Wiedemann-Steiner syndrome"/>
</concept>
<concept>
<code value="319189"/>
<display value="Familial cortical myoclonus"/>
</concept>
<concept>
<code value="319192"/>
<display value="Diencephalic-mesencephalic junction dysplasia"/>
</concept>
<concept>
<code value="319195"/>
<display value="Chondroectodermal dysplasia with night blindness"/>
</concept>
<concept>
<code value="319199"/>
<display value="Autosomal recessive spastic paraplegia type 53"/>
</concept>
<concept>
<code value="3192"/>
<display value="Supravalvular pulmonary stenosis"/>
</concept>
<concept>
<code value="319205"/>
<display value="Bilateral massive adrenal hemorrhage"/>
</concept>
<concept>
<code value="319213"/>
<display value="Lujo hemorrhagic fever"/>
</concept>
<concept>
<code value="319218"/>
<display value="Ebola hemorrhagic fever"/>
</concept>
<concept>
<code value="319223"/>
<display value="Argentine hemorrhagic fever"/>
</concept>
<concept>
<code value="319229"/>
<display value="Bolivian hemorrhagic fever"/>
</concept>
<concept>
<code value="319234"/>
<display value="Venezuelan hemorrhagic fever"/>
</concept>
<concept>
<code value="319239"/>
<display value="Brazilian hemorrhagic fever"/>
</concept>
<concept>
<code value="319244"/>
<display value="Chapare hemorrhagic fever"/>
</concept>
<concept>
<code value="319247"/>
<display value="Hantavirus pulmonary syndrome"/>
</concept>
<concept>
<code value="319251"/>
<display value="Rift valley fever"/>
</concept>
<concept>
<code value="319254"/>
<display value="Kyasanur forest disease"/>
</concept>
<concept>
<code value="319266"/>
<display value="Omsk hemorrhagic fever"/>
</concept>
<concept>
<code value="319276"/>
<display value="Clear cell renal carcinoma"/>
</concept>
<concept>
<code value="319287"/>
<display
value="Multilocular cystic renal neoplasm of low malignant potential"/>
</concept>
<concept>
<code value="319298"/>
<display value="Papillary renal cell carcinoma"/>
</concept>
<concept>
<code value="3193"/>
<display value="Supravalvular aortic stenosis"/>
</concept>
<concept>
<code value="319303"/>
<display value="Chromophobe renal cell carcinoma"/>
</concept>
<concept>
<code value="319308"/>
<display value="MiT family translocation renal cell carcinoma"/>
</concept>
<concept>
<code value="319319"/>
<display value="Renal medullary carcinoma"/>
</concept>
<concept>
<code value="319322"/>
<display value="Mucinous tubular and spindle cell renal carcinoma"/>
</concept>
<concept>
<code value="319325"/>
<display value="Tubulocystic renal cell carcinoma"/>
</concept>
<concept>
<code value="319332"/>
<display
value="Autosomal recessive myogenic arthrogryposis multiplex congenita"/>
</concept>
<concept>
<code value="319340"/>
<display value="Carney complex-trismus-pseudocamptodactyly syndrome"/>
</concept>
<concept>
<code value="3194"/>
<display value="Corneodermatoosseous syndrome"/>
</concept>
<concept>
<code value="319462"/>
<display
value="Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"/>
</concept>
<concept>
<code value="319465"/>
<display value="Inherited acute myeloid leukemia"/>
</concept>
<concept>
<code value="319480"/>
<display value="Acute myeloid leukemia with CEBPA somatic mutations"/>
</concept>
<concept>
<code value="319487"/>
<display value="Familial papillary or follicular thyroid carcinoma"/>
</concept>
<concept>
<code value="319504"/>
<display value="Combined oxidative phosphorylation defect type 8"/>
</concept>
<concept>
<code value="319509"/>
<display value="Combined oxidative phosphorylation defect type 9"/>
</concept>
<concept>
<code value="319514"/>
<display value="Combined oxidative phosphorylation defect type 13"/>
</concept>
<concept>
<code value="319519"/>
<display value="Combined oxidative phosphorylation defect type 14"/>
</concept>
<concept>
<code value="319524"/>
<display value="Combined oxidative phosphorylation defect type 15"/>
</concept>
<concept>
<code value="319547"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"/>
</concept>
<concept>
<code value="319552"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"/>
</concept>
<concept>
<code value="319558"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"/>
</concept>
<concept>
<code value="319563"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"/>
</concept>
<concept>
<code value="319569"/>
<display
value="Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"/>
</concept>
<concept>
<code value="319574"/>
<display
value="Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"/>
</concept>
<concept>
<code value="319581"/>
<display
value="Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"/>
</concept>
<concept>
<code value="319589"/>
<display
value="Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"/>
</concept>
<concept>
<code value="319595"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"/>
</concept>
<concept>
<code value="3196"/>
<display
value="Steroid dehydrogenase deficiency-dental anomalies syndrome"/>
</concept>
<concept>
<code value="319600"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"/>
</concept>
<concept>
<code value="319605"/>
<display
value="X-linked mendelian susceptibility to mycobacterial diseases"/>
</concept>
<concept>
<code value="319635"/>
<display value="Amyloidosis cutis dyschromia"/>
</concept>
<concept>
<code value="319640"/>
<display value="Retinal macular dystrophy type 2"/>
</concept>
<concept>
<code value="319646"/>
<display value="PGM1-CDG"/>
</concept>
<concept>
<code value="319651"/>
<display
value="Constitutional megaloblastic anemia with severe neurologic disease"/>
</concept>
<concept>
<code value="319667"/>
<display value="Primary lymphoma of the conjunctiva"/>
</concept>
<concept>
<code value="319671"/>
<display value="Alazami syndrome"/>
</concept>
<concept>
<code value="319675"/>
<display value="Microcephalic primordial dwarfism, Dauber type"/>
</concept>
<concept>
<code value="319678"/>
<display
value="Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"/>
</concept>
<concept>
<code value="3197"/>
<display value="Hereditary hyperekplexia"/>
</concept>
<concept>
<code value="3198"/>
<display value="Stiff person spectrum disorder"/>
</concept>
<concept>
<code value="3199"/>
<display value="Stimmler syndrome"/>
</concept>
<concept>
<code value="32"/>
<display value="Glutathione synthetase deficiency"/>
</concept>
<concept>
<code value="320"/>
<display value="Apparent mineralocorticoid excess"/>
</concept>
<concept>
<code value="3200"/>
<display value="Arthrogryposis-ectodermal dysplasia syndrome"/>
</concept>
<concept>
<code value="3201"/>
<display
value="Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome"/>
</concept>
<concept>
<code value="3202"/>
<display value="Dehydrated hereditary stomatocytosis"/>
</concept>
<concept>
<code value="3203"/>
<display value="Overhydrated hereditary stomatocytosis"/>
</concept>
<concept>
<code value="320355"/>
<display value="Autosomal dominant spastic paraplegia type 41"/>
</concept>
<concept>
<code value="320360"/>
<display value="MT-ATP6-related mitochondrial spastic paraplegia"/>
</concept>
<concept>
<code value="320365"/>
<display value="Autosomal dominant spastic paraplegia type 36"/>
</concept>
<concept>
<code value="320370"/>
<display value="Autosomal recessive spastic paraplegia type 43"/>
</concept>
<concept>
<code value="320375"/>
<display value="Autosomal recessive spastic paraplegia type 55"/>
</concept>
<concept>
<code value="320380"/>
<display value="Autosomal recessive spastic paraplegia type 54"/>
</concept>
<concept>
<code value="320385"/>
<display
value="Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"/>
</concept>
<concept>
<code value="320391"/>
<display value="Autosomal recessive spastic paraplegia type 46"/>
</concept>
<concept>
<code value="320396"/>
<display value="Autosomal recessive spastic paraplegia type 45"/>
</concept>
<concept>
<code value="3204"/>
<display value="Stormorken-Sjaastad-Langslet syndrome"/>
</concept>
<concept>
<code value="320401"/>
<display value="Autosomal recessive spastic paraplegia type 44"/>
</concept>
<concept>
<code value="320406"/>
<display
value="Spastic paraplegia-optic atrophy-neuropathy syndrome"/>
</concept>
<concept>
<code value="320411"/>
<display value="Autosomal recessive spastic paraplegia type 56"/>
</concept>
<concept>
<code value="3205"/>
<display value="Sturge-Weber syndrome"/>
</concept>
<concept>
<code value="3206"/>
<display value="Stüve-Wiedemann syndrome"/>
</concept>
<concept>
<code value="3207"/>
<display
value="White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome"/>
</concept>
<concept>
<code value="3208"/>
<display value="Isolated succinate-CoQ reductase deficiency"/>
</concept>
<concept>
<code value="321"/>
<display value="Multiple osteochondromas"/>
</concept>
<concept>
<code value="3214"/>
<display value="Deaf blind hypopigmentation syndrome, Yemenite type"/>
</concept>
<concept>
<code value="3216"/>
<display value="Conductive deafness-malformed external ear syndrome"/>
</concept>
<concept>
<code value="3217"/>
<display
value="Deafness-small bowel diverticulosis-neuropathy syndrome"/>
</concept>
<concept>
<code value="3218"/>
<display
value="Deafness-epiphyseal dysplasia-short stature syndrome"/>
</concept>
<concept>
<code value="3219"/>
<display value="Fountain syndrome"/>
</concept>
<concept>
<code value="322"/>
<display value="Exstrophy-epispadias complex"/>
</concept>
<concept>
<code value="3220"/>
<display value="Deafness-enamel hypoplasia-nail defects syndrome"/>
</concept>
<concept>
<code value="3222"/>
<display
value="Phosphoribosylpyrophosphate synthetase superactivity"/>
</concept>
<concept>
<code value="3224"/>
<display
value="Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"/>
</concept>
<concept>
<code value="3225"/>
<display
value="Hearing loss-familial salivary gland insensitivity to aldosterone syndrome"/>
</concept>
<concept>
<code value="3230"/>
<display value="Deafness-oligodontia syndrome"/>
</concept>
<concept>
<code value="3232"/>
<display value="Deafness-ear malformation-facial palsy syndrome"/>
</concept>
<concept>
<code value="3233"/>
<display value="Cochleosaccular degeneration-cataract syndrome"/>
</concept>
<concept>
<code value="3235"/>
<display value="Progressive deafness with stapes fixation"/>
</concept>
<concept>
<code value="3236"/>
<display
value="Conductive deafness-ptosis-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="3237"/>
<display value="Multiple synostoses syndrome"/>
</concept>
<concept>
<code value="3238"/>
<display value="Cardiospondylocarpofacial syndrome"/>
</concept>
<concept>
<code value="3239"/>
<display value="Deafness-vitiligo-achalasia syndrome"/>
</concept>
<concept>
<code value="324"/>
<display value="Fabry disease"/>
</concept>
<concept>
<code value="3240"/>
<display
value="Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome"/>
</concept>
<concept>
<code value="3241"/>
<display value="Deafness-craniofacial syndrome"/>
</concept>
<concept>
<code value="3242"/>
<display value="Renpenning syndrome"/>
</concept>
<concept>
<code value="324262"/>
<display
value="Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"/>
</concept>
<concept>
<code value="324290"/>
<display value="PRDM8-related progressive myoclonus epilepsy"/>
</concept>
<concept>
<code value="324294"/>
<display
value="T-cell immunodeficiency with epidermodysplasia verruciformis"/>
</concept>
<concept>
<code value="324299"/>
<display
value="Multiple paragangliomas associated with polycythemia"/>
</concept>
<concept>
<code value="3243"/>
<display value="Sweet syndrome"/>
</concept>
<concept>
<code value="324307"/>
<display
value="Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="324313"/>
<display value="9p13 microdeletion syndrome"/>
</concept>
<concept>
<code value="324321"/>
<display value="Sinoatrial node dysfunction and deafness"/>
</concept>
<concept>
<code value="324353"/>
<display value="Congenital achiasma"/>
</concept>
<concept>
<code value="324364"/>
<display
value="Mixed sclerosing bone dystrophy with extra-skeletal manifestations"/>
</concept>
<concept>
<code value="324381"/>
<display value="Hereditary inclusion body myopathy type 4"/>
</concept>
<concept>
<code value="324410"/>
<display
value="X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"/>
</concept>
<concept>
<code value="324416"/>
<display
value="Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"/>
</concept>
<concept>
<code value="324422"/>
<display value="ALG13-CDG"/>
</concept>
<concept>
<code value="324442"/>
<display
value="Autosomal recessive axonal neuropathy with neuromyotonia"/>
</concept>
<concept>
<code value="324525"/>
<display
value="Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation"/>
</concept>
<concept>
<code value="324530"/>
<display
value="Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"/>
</concept>
<concept>
<code value="324535"/>
<display value="Combined oxidative phosphorylation defect type 11"/>
</concept>
<concept>
<code value="324540"/>
<display
value="Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome"/>
</concept>
<concept>
<code value="324561"/>
<display
value="Hypopigmentation-punctate palmoplantar keratoderma syndrome"/>
</concept>
<concept>
<code value="324569"/>
<display value="Pontocerebellar hypoplasia type 8"/>
</concept>
<concept>
<code value="324575"/>
<display value="Hyperinsulinism due to HNF1A deficiency"/>
</concept>
<concept>
<code value="324581"/>
<display value="Benign Samaritan congenital myopathy"/>
</concept>
<concept>
<code value="324585"/>
<display
value="Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"/>
</concept>
<concept>
<code value="324588"/>
<display value="Familial dyskinesia and facial myokymia"/>
</concept>
<concept>
<code value="3246"/>
<display
value="Symphalangism with multiple anomalies of hands and feet"/>
</concept>
<concept>
<code value="324601"/>
<display value="X-linked cleft palate and ankyloglossia"/>
</concept>
<concept>
<code value="324604"/>
<display value="Classic multiminicore myopathy"/>
</concept>
<concept>
<code value="324611"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"/>
</concept>
<concept>
<code value="324625"/>
<display value="Chikungunya"/>
</concept>
<concept>
<code value="324632"/>
<display value="Hendra virus infection"/>
</concept>
<concept>
<code value="324636"/>
<display value="Autoerythrocyte sensitization syndrome"/>
</concept>
<concept>
<code value="324648"/>
<display value="Invasive non-typhoidal salmonellosis"/>
</concept>
<concept>
<code value="324703"/>
<display value="ABetaL34V amyloidosis"/>
</concept>
<concept>
<code value="324708"/>
<display value="ABeta amyloidosis, Iowa type"/>
</concept>
<concept>
<code value="324713"/>
<display value="ABeta amyloidosis, Italian type"/>
</concept>
<concept>
<code value="324718"/>
<display value="ABetaA21G amyloidosis"/>
</concept>
<concept>
<code value="324723"/>
<display value="ABeta amyloidosis, Arctic type"/>
</concept>
<concept>
<code value="324737"/>
<display value="SRD5A3-CDG"/>
</concept>
<concept>
<code value="3248"/>
<display value="Isolated distal symphalangism"/>
</concept>
<concept>
<code value="324964"/>
<display
value="Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis"/>
</concept>
<concept>
<code value="324972"/>
<display value="MAGIC syndrome"/>
</concept>
<concept>
<code value="324977"/>
<display value="Proteasome-associated autoinflammatory syndrome"/>
</concept>
<concept>
<code value="325"/>
<display value="Congenital factor II deficiency"/>
</concept>
<concept>
<code value="3250"/>
<display value="Proximal symphalangism"/>
</concept>
<concept>
<code value="325124"/>
<display value="Testicular agenesis"/>
</concept>
<concept>
<code value="3253"/>
<display value="Cleft lip/palate-ectodermal dysplasia syndrome"/>
</concept>
<concept>
<code value="325345"/>
<display value="46,XY ovotesticular difference of sex development"/>
</concept>
<concept>
<code value="325448"/>
<display value="Leydig cell hypoplasia due to LHB deficiency"/>
</concept>
<concept>
<code value="3255"/>
<display value="Filippi syndrome"/>
</concept>
<concept>
<code value="325524"/>
<display
value="Classic congenital lipoid adrenal hyperplasia due to STAR deficency"/>
</concept>
<concept>
<code value="325529"/>
<display
value="Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"/>
</concept>
<concept>
<code value="3258"/>
<display value="Cenani-Lenz syndrome"/>
</concept>
<concept>
<code value="3259"/>
<display value="Syndactyly-polydactyly-ear lobe syndrome"/>
</concept>
<concept>
<code value="326"/>
<display value="Congenital factor V deficiency"/>
</concept>
<concept>
<code value="3260"/>
<display value="Idiopathic hypereosinophilic syndrome"/>
</concept>
<concept>
<code value="3261"/>
<display value="Autoimmune lymphoproliferative syndrome"/>
</concept>
<concept>
<code value="3262"/>
<display value="Dobrow syndrome"/>
</concept>
<concept>
<code value="3263"/>
<display value="Syngnathia-cleft palate syndrome"/>
</concept>
<concept>
<code value="3265"/>
<display value="Isolated humero-radial synostosis"/>
</concept>
<concept>
<code value="3266"/>
<display value="Isolated humero-radio-ulnar synostosis"/>
</concept>
<concept>
<code value="3268"/>
<display
value="Radioulnar synostosis-microcephaly-scoliosis syndrome"/>
</concept>
<concept>
<code value="3269"/>
<display value="Isolated radio-ulnar synostosis"/>
</concept>
<concept>
<code value="327"/>
<display value="Congenital factor VII deficiency"/>
</concept>
<concept>
<code value="3270"/>
<display
value="Radioulnar synostosis-developmental delay-hypotonia syndrome"/>
</concept>
<concept>
<code value="3273"/>
<display value="Synovial sarcoma"/>
</concept>
<concept>
<code value="3275"/>
<display value="Spondylocarpotarsal synostosis"/>
</concept>
<concept>
<code value="328"/>
<display value="Congenital factor X deficiency"/>
</concept>
<concept>
<code value="3282"/>
<display value="Multifocal atrial tachycardia"/>
</concept>
<concept>
<code value="3283"/>
<display value="His bundle tachycardia"/>
</concept>
<concept>
<code value="3286"/>
<display
value="Catecholaminergic polymorphic ventricular tachycardia"/>
</concept>
<concept>
<code value="3287"/>
<display value="Takayasu arteritis"/>
</concept>
<concept>
<code value="329"/>
<display value="Congenital factor XI deficiency"/>
</concept>
<concept>
<code value="3291"/>
<display value="Teebi-Shaltout syndrome"/>
</concept>
<concept>
<code value="329173"/>
<display
value="Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"/>
</concept>
<concept>
<code value="329178"/>
<display
value="Congenital muscular dystrophy with intellectual disability and severe epilepsy"/>
</concept>
<concept>
<code value="329191"/>
<display
value="Tall stature-long halluces-multiple extra-epiphyses syndrome"/>
</concept>
<concept>
<code value="329195"/>
<display
value="Developmental delay with autism spectrum disorder and gait instability"/>
</concept>
<concept>
<code value="3292"/>
<display value="Tel Hashomer camptodactyly syndrome"/>
</concept>
<concept>
<code value="329211"/>
<display
value="Autosomal dominant neovascular inflammatory vitreoretinopathy"/>
</concept>
<concept>
<code value="329217"/>
<display value="Cerebral sinovenous thrombosis"/>
</concept>
<concept>
<code value="329224"/>
<display value="Schuurs-Hoeijmakers syndrome"/>
</concept>
<concept>
<code value="329228"/>
<display
value="Microcephalic primordial dwarfism due to ZNF335 deficiency"/>
</concept>
<concept>
<code value="329235"/>
<display
value="X-linked central congenital hypothyroidism with late-onset testicular enlargement"/>
</concept>
<concept>
<code value="329242"/>
<display
value="Congenital chronic diarrhea with protein-losing enteropathy"/>
</concept>
<concept>
<code value="329249"/>
<display
value="Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"/>
</concept>
<concept>
<code value="329258"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2Q"/>
</concept>
<concept>
<code value="329284"/>
<display value="Beta-propeller protein-associated neurodegeneration"/>
</concept>
<concept>
<code value="3293"/>
<display
value="Telecanthus-hypertelorism-strabismus-pes cavus syndrome"/>
</concept>
<concept>
<code value="329308"/>
<display value="Fatty acid hydroxylase-associated neurodegeneration"/>
</concept>
<concept>
<code value="329314"/>
<display
value="Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"/>
</concept>
<concept>
<code value="329319"/>
<display value="Thrombocythemia with distal limb defects"/>
</concept>
<concept>
<code value="329329"/>
<display value="Autosomal recessive frontotemporal pachygyria"/>
</concept>
<concept>
<code value="329332"/>
<display
value="Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome"/>
</concept>
<concept>
<code value="329336"/>
<display
value="Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"/>
</concept>
<concept>
<code value="3294"/>
<display value="Extensor tendons of finger anomalies"/>
</concept>
<concept>
<code value="329457"/>
<display value="Distal arthrogryposis type 5D"/>
</concept>
<concept>
<code value="329466"/>
<display value="Autosomal dominant focal dystonia, DYT25 type"/>
</concept>
<concept>
<code value="329469"/>
<display
value="Acute megakaryoblastic leukemia in children without Down syndrome"/>
</concept>
<concept>
<code value="329475"/>
<display value="Spastic paraplegia-Paget disease of bone syndrome"/>
</concept>
<concept>
<code value="329478"/>
<display value="Adult-onset distal myopathy due to VCP mutation"/>
</concept>
<concept>
<code value="329481"/>
<display value="Lipoprotein glomerulopathy"/>
</concept>
<concept>
<code value="32960"/>
<display
value="Tumor necrosis factor receptor 1 associated periodic syndrome"/>
</concept>
<concept>
<code value="329802"/>
<display value="5p13 microduplication syndrome"/>
</concept>
<concept>
<code value="329813"/>
<display
value="Mosaic genome-wide paternal uniparental disomy syndrome"/>
</concept>
<concept>
<code value="329874"/>
<display value="Idiopathic giant cell myocarditis"/>
</concept>
<concept>
<code value="329883"/>
<display value="Non-hypoproteinemic hypertrophic gastropathy"/>
</concept>
<concept>
<code value="329894"/>
<display value="Juvenile overlap myositis"/>
</concept>
<concept>
<code value="3299"/>
<display value="Tetanus"/>
</concept>
<concept>
<code value="329903"/>
<display
value="Immunoglobulin-mediated membranoproliferative glomerulonephritis"/>
</concept>
<concept>
<code value="329918"/>
<display value="C3 glomerulopathy"/>
</concept>
<concept>
<code value="329931"/>
<display value="C3 glomerulonephritis"/>
</concept>
<concept>
<code value="329942"/>
<display
value="Transient neonatal multiple acyl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="329967"/>
<display value="Intermittent hydrarthrosis"/>
</concept>
<concept>
<code value="329971"/>
<display
value="Generalized juvenile polyposis/juvenile polyposis coli"/>
</concept>
<concept>
<code value="329977"/>
<display value="Classic neuroendocrine tumor of appendix"/>
</concept>
<concept>
<code value="329984"/>
<display value="Goblet cell carcinoma"/>
</concept>
<concept>
<code value="33"/>
<display value="Isovaleric acidemia"/>
</concept>
<concept>
<code value="330"/>
<display value="Congenital factor XII deficiency"/>
</concept>
<concept>
<code value="330001"/>
<display value="Wild type ATTR amyloidosis"/>
</concept>
<concept>
<code value="33001"/>
<display value="Lymphedema-distichiasis syndrome"/>
</concept>
<concept>
<code value="330012"/>
<display value="High altitude pulmonary edema"/>
</concept>
<concept>
<code value="330015"/>
<display value="Lead poisoning"/>
</concept>
<concept>
<code value="330021"/>
<display value="Mercury poisoning"/>
</concept>
<concept>
<code value="330029"/>
<display value="Hypotrichosis-deafness syndrome"/>
</concept>
<concept>
<code value="330032"/>
<display value="Hemoglobin Lepore-beta-thalassemia syndrome"/>
</concept>
<concept>
<code value="330041"/>
<display value="Hemoglobin M disease"/>
</concept>
<concept>
<code value="330050"/>
<display
value="DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"/>
</concept>
<concept>
<code value="330054"/>
<display
value="Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"/>
</concept>
<concept>
<code value="330058"/>
<display value="Hydroa vacciniforme"/>
</concept>
<concept>
<code value="330061"/>
<display value="Actinic prurigo"/>
</concept>
<concept>
<code value="330064"/>
<display value="Chronic actinic dermatitis"/>
</concept>
<concept>
<code value="3301"/>
<display value="Tetraamelia-multiple malformations syndrome"/>
</concept>
<concept>
<code value="3303"/>
<display value="Tetralogy of Fallot"/>
</concept>
<concept>
<code value="3304"/>
<display
value="Fallot complex-intellectual disability-growth delay syndrome"/>
</concept>
<concept>
<code value="3305"/>
<display value="Tetraploidy syndrome"/>
</concept>
<concept>
<code value="3306"/>
<display value="Inverted duplicated chromosome 15 syndrome"/>
</concept>
<concept>
<code value="33067"/>
<display value="Metaphyseal chondrodysplasia, Jansen type"/>
</concept>
<concept>
<code value="33069"/>
<display value="Dravet syndrome"/>
</concept>
<concept>
<code value="3307"/>
<display value="Tetrasomy 18p syndrome"/>
</concept>
<concept>
<code value="3309"/>
<display value="Tetrasomy 5p syndrome"/>
</concept>
<concept>
<code value="331"/>
<display value="Congenital factor XIII deficiency"/>
</concept>
<concept>
<code value="3310"/>
<display value="Tetrasomy 9p syndrome"/>
</concept>
<concept>
<code value="33108"/>
<display value="Lethal multiple pterygium syndrome"/>
</concept>
<concept>
<code value="33110"/>
<display value="Autosomal non-syndromic agammaglobulinemia"/>
</concept>
<concept>
<code value="33111"/>
<display value="Granulomatous slack skin"/>
</concept>
<concept>
<code value="331176"/>
<display
value="Severe congenital neutropenia due to G6PC3 deficiency"/>
</concept>
<concept>
<code value="331187"/>
<display value="Immunodeficiency due to MASP-2 deficiency"/>
</concept>
<concept>
<code value="331190"/>
<display value="Immunodeficiency due to ficolin3 deficiency"/>
</concept>
<concept>
<code value="3312"/>
<display value="Thalidomide embryopathy"/>
</concept>
<concept>
<code value="331206"/>
<display
value="Severe combined immunodeficiency due to complete RAG1/2 deficiency"/>
</concept>
<concept>
<code value="331226"/>
<display value="Susceptibility to infection due to TYK2 deficiency"/>
</concept>
<concept>
<code value="331235"/>
<display value="Selective IgM deficiency"/>
</concept>
<concept>
<code value="3314"/>
<display value="Thiemann disease, familial form"/>
</concept>
<concept>
<code value="3316"/>
<display value="Thomas syndrome"/>
</concept>
<concept>
<code value="3317"/>
<display value="Thoracolaryngopelvic dysplasia"/>
</concept>
<concept>
<code value="3318"/>
<display value="Essential thrombocythemia"/>
</concept>
<concept>
<code value="3319"/>
<display value="Congenital amegakaryocytic thrombocytopenia"/>
</concept>
<concept>
<code value="332"/>
<display value="Congenital intrinsic factor deficiency"/>
</concept>
<concept>
<code value="3320"/>
<display value="Thrombocytopenia-absent radius syndrome"/>
</concept>
<concept>
<code value="33208"/>
<display value="Idiopathic hypersomnia"/>
</concept>
<concept>
<code value="3322"/>
<display value="Hoyeraal-Hreidarsson syndrome"/>
</concept>
<concept>
<code value="33226"/>
<display value="Waldenström macroglobulinemia"/>
</concept>
<concept>
<code value="3324"/>
<display value="Familial thrombomodulin anomalies"/>
</concept>
<concept>
<code value="3325"/>
<display value="Classic heparin-induced thrombocytopenia"/>
</concept>
<concept>
<code value="3326"/>
<display value="Thymic-renal-anal-lung dysplasia"/>
</concept>
<concept>
<code value="3327"/>
<display value="Thyrocerebrorenal syndrome"/>
</concept>
<concept>
<code value="33276"/>
<display value="Kaposi sarcoma"/>
</concept>
<concept>
<code value="3328"/>
<display value="Absent tibia-polydactyly-arachnoid cyst syndrome"/>
</concept>
<concept>
<code value="3329"/>
<display value="Tibial aplasia-ectrodactyly syndrome"/>
</concept>
<concept>
<code value="333"/>
<display value="Farber disease"/>
</concept>
<concept>
<code value="33314"/>
<display value="Jessner lymphocytic infiltration of the skin"/>
</concept>
<concept>
<code value="33355"/>
<display value="Reticular dysgenesis"/>
</concept>
<concept>
<code value="33364"/>
<display value="Trichothiodystrophy"/>
</concept>
<concept>
<code value="3337"/>
<display value="Primary Fanconi renotubular syndrome"/>
</concept>
<concept>
<code value="3338"/>
<display value="Toriello-Carey syndrome"/>
</concept>
<concept>
<code value="3339"/>
<display value="Oculoectodermal syndrome"/>
</concept>
<concept>
<code value="334"/>
<display value="Hereditary atrial fibrillation"/>
</concept>
<concept>
<code value="33402"/>
<display value="Pediatric hepatocellular carcinoma"/>
</concept>
<concept>
<code value="33408"/>
<display value="Bullous lichen planus"/>
</concept>
<concept>
<code value="3341"/>
<display
value="Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"/>
</concept>
<concept>
<code value="3342"/>
<display value="Arterial tortuosity syndrome"/>
</concept>
<concept>
<code value="3343"/>
<display value="Toxocariasis"/>
</concept>
<concept>
<code value="3344"/>
<display value="Weismann-Netter syndrome"/>
</concept>
<concept>
<code value="33445"/>
<display value="Neuroectodermal melanolysosomal disease"/>
</concept>
<concept>
<code value="3346"/>
<display value="Tracheal agenesis"/>
</concept>
<concept>
<code value="3347"/>
<display value="Mounier-Kühn syndrome"/>
</concept>
<concept>
<code value="33475"/>
<display value="Meningococcal meningitis"/>
</concept>
<concept>
<code value="3348"/>
<display value="Tracheobronchopathia osteochondroplastica"/>
</concept>
<concept>
<code value="335"/>
<display value="Congenital fibrinogen deficiency"/>
</concept>
<concept>
<code value="3350"/>
<display value="Tremor-nystagmus-duodenal ulcer syndrome"/>
</concept>
<concept>
<code value="3351"/>
<display value="Trichodental syndrome"/>
</concept>
<concept>
<code value="3352"/>
<display value="Tricho-dento-osseous syndrome"/>
</concept>
<concept>
<code value="3353"/>
<display value="Trichodermodysplasia-dental alterations syndrome"/>
</concept>
<concept>
<code value="33543"/>
<display value="Kleine-Levin syndrome"/>
</concept>
<concept>
<code value="3355"/>
<display value="Trichoodontoonychial dysplasia"/>
</concept>
<concept>
<code value="33572"/>
<display value="5-oxoprolinase deficiency"/>
</concept>
<concept>
<code value="33573"/>
<display value="Gamma-glutamyl transpeptidase deficiency"/>
</concept>
<concept>
<code value="33574"/>
<display value="Glutamate-cysteine ligase deficiency"/>
</concept>
<concept>
<code value="33577"/>
<display value="Nodular non-suppurative panniculitis"/>
</concept>
<concept>
<code value="3361"/>
<display value="Trichodysplasia-xeroderma syndrome"/>
</concept>
<concept>
<code value="3363"/>
<display
value="Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"/>
</concept>
<concept>
<code value="3365"/>
<display value="Trigonocephaly-broad thumbs syndrome"/>
</concept>
<concept>
<code value="3366"/>
<display value="Non-syndromic metopic craniosynostosis"/>
</concept>
<concept>
<code value="3368"/>
<display value="Trigonocephaly-bifid nose-acral anomalies syndrome"/>
</concept>
<concept>
<code value="3369"/>
<display
value="Trigonocephaly-short stature-developmental delay syndrome"/>
</concept>
<concept>
<code value="337"/>
<display value="Fibrodysplasia ossificans progressiva"/>
</concept>
<concept>
<code value="3374"/>
<display value="Unilateral ocular duplication"/>
</concept>
<concept>
<code value="3375"/>
<display value="Trisomy X syndrome"/>
</concept>
<concept>
<code value="3376"/>
<display value="Triploidy syndrome"/>
</concept>
<concept>
<code value="3377"/>
<display value="Trismus-pseudocamptodactyly syndrome"/>
</concept>
<concept>
<code value="3378"/>
<display value="Trisomy 13 syndrome"/>
</concept>
<concept>
<code value="3379"/>
<display value="Distal duplication 17q syndrome"/>
</concept>
<concept>
<code value="3380"/>
<display value="Trisomy 18 syndrome"/>
</concept>
<concept>
<code value="3383"/>
<display value="Humerus trochlea aplasia"/>
</concept>
<concept>
<code value="3384"/>
<display value="Common arterial trunk"/>
</concept>
<concept>
<code value="3385"/>
<display value="African trypanosomiasis"/>
</concept>
<concept>
<code value="3386"/>
<display value="American trypanosomiasis"/>
</concept>
<concept>
<code value="3387"/>
<display value="Isolated anterior cervical hypertrichosis"/>
</concept>
<concept>
<code value="3392"/>
<display value="Tularemia"/>
</concept>
<concept>
<code value="340"/>
<display value="Hemorrhagic fever-renal syndrome"/>
</concept>
<concept>
<code value="3400"/>
<display value="Aorto-ventricular tunnel"/>
</concept>
<concept>
<code value="3402"/>
<display value="Transient tyrosinemia of the newborn"/>
</concept>
<concept>
<code value="3403"/>
<display value="Uhl anomaly"/>
</concept>
<concept>
<code value="3404"/>
<display value="Ulbright-Hodes syndrome"/>
</concept>
<concept>
<code value="3405"/>
<display
value="Umbilical cord ulceration-intestinal atresia syndrome"/>
</concept>
<concept>
<code value="3406"/>
<display value="Ulerythema ophryogenesis"/>
</concept>
<concept>
<code value="3408"/>
<display value="Upington disease"/>
</concept>
<concept>
<code value="3409"/>
<display value="Urban-Rogers-Meyer syndrome"/>
</concept>
<concept>
<code value="3411"/>
<display value="Double uterus-hemivagina-renal agenesis syndrome"/>
</concept>
<concept>
<code value="3412"/>
<display value="VACTERL with hydrocephalus"/>
</concept>
<concept>
<code value="34145"/>
<display value="Immunoglobulin A nephropathy"/>
</concept>
<concept>
<code value="34149"/>
<display
value="Autosomal dominant tubulointerstitial kidney disease"/>
</concept>
<concept>
<code value="3416"/>
<display value="Hyperostosis corticalis generalisata"/>
</concept>
<concept>
<code value="3417"/>
<display value="Van den Bosch syndrome"/>
</concept>
<concept>
<code value="342"/>
<display value="Familial Mediterranean fever"/>
</concept>
<concept>
<code value="34217"/>
<display value="Naxos disease"/>
</concept>
<concept>
<code value="3424"/>
<display value="Velo-facial-skeletal syndrome"/>
</concept>
<concept>
<code value="3426"/>
<display value="Double outlet right ventricle"/>
</concept>
<concept>
<code value="3427"/>
<display value="Double outlet left ventricle"/>
</concept>
<concept>
<code value="3429"/>
<display value="Verloove Vanhorick-Brubakk syndrome"/>
</concept>
<concept>
<code value="343"/>
<display value="Hyperimmunoglobulinemia D with periodic fever"/>
</concept>
<concept>
<code value="3433"/>
<display value="Microcephaly-brachydactyly-kyphoscoliosis syndrome"/>
</concept>
<concept>
<code value="3434"/>
<display value="MMEP syndrome"/>
</concept>
<concept>
<code value="3437"/>
<display value="Vogt-Koyanagi-Harada disease"/>
</concept>
<concept>
<code value="3439"/>
<display value="Von Voss-Cherstvoy syndrome"/>
</concept>
<concept>
<code value="3440"/>
<display value="Waardenburg syndrome"/>
</concept>
<concept>
<code value="3447"/>
<display value="Weaver syndrome"/>
</concept>
<concept>
<code value="3448"/>
<display value="Weaver-Williams syndrome"/>
</concept>
<concept>
<code value="3449"/>
<display value="Weill-Marchesani syndrome"/>
</concept>
<concept>
<code value="345"/>
<display value="Dissecting cellulitis of the scalp"/>
</concept>
<concept>
<code value="34514"/>
<display
value="Telethonin-related limb-girdle muscular dystrophy R7"/>
</concept>
<concept>
<code value="34515"/>
<display value="FKRP-related limb-girdle muscular dystrophy R9"/>
</concept>
<concept>
<code value="34516"/>
<display value="DNAJB6-related limb-girdle muscular dystrophy D1"/>
</concept>
<concept>
<code value="3452"/>
<display value="Whipple disease"/>
</concept>
<concept>
<code value="34520"/>
<display
value="Congenital muscular dystrophy with integrin alpha-7 deficiency"/>
</concept>
<concept>
<code value="34528"/>
<display
value="Autosomal dominant primary hypomagnesemia with hypocalciuria"/>
</concept>
<concept>
<code value="3453"/>
<display value="Autoimmune polyendocrinopathy type 1"/>
</concept>
<concept>
<code value="3454"/>
<display value="Wieacker-Wolff syndrome"/>
</concept>
<concept>
<code value="3455"/>
<display value="Wiedemann-Rautenstrauch syndrome"/>
</concept>
<concept>
<code value="3456"/>
<display value="Wildervanck syndrome"/>
</concept>
<concept>
<code value="34587"/>
<display value="Danon disease"/>
</concept>
<concept>
<code value="3459"/>
<display value="Wilson-Turner syndrome"/>
</concept>
<concept>
<code value="34592"/>
<display
value="Immunodeficiency by defective expression of MHC class I"/>
</concept>
<concept>
<code value="346"/>
<display value="Quinquaud folliculitis decalvans"/>
</concept>
<concept>
<code value="3463"/>
<display value="Wolfram syndrome"/>
</concept>
<concept>
<code value="3464"/>
<display value="Woodhouse-Sakati syndrome"/>
</concept>
<concept>
<code value="3465"/>
<display value="Worster-Drought syndrome"/>
</concept>
<concept>
<code value="3466"/>
<display value="WT limb-blood syndrome"/>
</concept>
<concept>
<code value="3467"/>
<display value="Hereditary xanthinuria"/>
</concept>
<concept>
<code value="3469"/>
<display value="XK aprosencephaly syndrome"/>
</concept>
<concept>
<code value="347"/>
<display value="Frasier syndrome"/>
</concept>
<concept>
<code value="3471"/>
<display value="Young syndrome"/>
</concept>
<concept>
<code value="3472"/>
<display value="Yunis-Varon syndrome"/>
</concept>
<concept>
<code value="3473"/>
<display value="Zimmermann-Laband syndrome"/>
</concept>
<concept>
<code value="3474"/>
<display value="CHIME syndrome"/>
</concept>
<concept>
<code value="348"/>
<display value="Fructose-1,6-bisphosphatase deficiency"/>
</concept>
<concept>
<code value="349"/>
<display value="Fucosidosis"/>
</concept>
<concept>
<code value="35"/>
<display value="Propionic acidemia"/>
</concept>
<concept>
<code value="35062"/>
<display
value="Severe disseminated cytomegalovirus infection in immunocompetent patients"/>
</concept>
<concept>
<code value="35063"/>
<display value="Fulminant viral hepatitis"/>
</concept>
<concept>
<code value="35069"/>
<display value="Infantile neuroaxonal dystrophy"/>
</concept>
<concept>
<code value="35078"/>
<display
value="T-B+ severe combined immunodeficiency due to JAK3 deficiency"/>
</concept>
<concept>
<code value="35093"/>
<display value="Non-syndromic sagittal craniosynostosis"/>
</concept>
<concept>
<code value="35099"/>
<display value="Non-syndromic bicoronal craniosynostosis"/>
</concept>
<concept>
<code value="351"/>
<display value="Galactosialidosis"/>
</concept>
<concept>
<code value="35107"/>
<display value="Desmosterolosis"/>
</concept>
<concept>
<code value="35120"/>
<display
value="Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"/>
</concept>
<concept>
<code value="35121"/>
<display value="Lysosomal acid phosphatase deficiency"/>
</concept>
<concept>
<code value="35122"/>
<display value="Congenital sucrase-isomaltase deficiency"/>
</concept>
<concept>
<code value="35125"/>
<display value="Epidermal nevus syndrome"/>
</concept>
<concept>
<code value="35173"/>
<display value="X-linked dominant chondrodysplasia punctata"/>
</concept>
<concept>
<code value="352328"/>
<display value="MEGDEL syndrome"/>
</concept>
<concept>
<code value="352333"/>
<display
value="Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"/>
</concept>
<concept>
<code value="352403"/>
<display
value="Spectrin-associated autosomal recessive cerebellar ataxia"/>
</concept>
<concept>
<code value="352447"/>
<display
value="Progressive external ophthalmoplegia-myopathy-emaciation syndrome"/>
</concept>
<concept>
<code value="352470"/>
<display value="DNA2-related mitochondrial DNA deletion syndrome"/>
</concept>
<concept>
<code value="352479"/>
<display value="ISPD-related limb-girdle muscular dystrophy R20"/>
</concept>
<concept>
<code value="352490"/>
<display value="Autism spectrum disorder due to AUTS2 deficiency"/>
</concept>
<concept>
<code value="352530"/>
<display
value="Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="352540"/>
<display value="Oncogenic osteomalacia"/>
</concept>
<concept>
<code value="352563"/>
<display
value="Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"/>
</concept>
<concept>
<code value="352577"/>
<display value="Bainbridge-Ropers syndrome"/>
</concept>
<concept>
<code value="352582"/>
<display value="Familial infantile myoclonic epilepsy"/>
</concept>
<concept>
<code value="352587"/>
<display
value="Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"/>
</concept>
<concept>
<code value="352596"/>
<display value="Progressive myoclonic epilepsy with dystonia"/>
</concept>
<concept>
<code value="352629"/>
<display value="16q24.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="352636"/>
<display value="Phalangeal microgeodic syndrome"/>
</concept>
<concept>
<code value="352641"/>
<display
value="Autosomal recessive cerebellar ataxia with late-onset spasticity"/>
</concept>
<concept>
<code value="352649"/>
<display
value="Brain dopamine-serotonin vesicular transport disease"/>
</concept>
<concept>
<code value="352654"/>
<display
value="Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"/>
</concept>
<concept>
<code value="352657"/>
<display value="Hereditary benign intraepithelial dyskeratosis"/>
</concept>
<concept>
<code value="352662"/>
<display
value="Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"/>
</concept>
<concept>
<code value="352665"/>
<display
value="Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion"/>
</concept>
<concept>
<code value="352670"/>
<display
value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"/>
</concept>
<concept>
<code value="352675"/>
<display value="X-linked Charcot-Marie-Tooth disease type 6"/>
</concept>
<concept>
<code value="352682"/>
<display
value="Cobblestone lissencephaly without muscular or ocular involvement"/>
</concept>
<concept>
<code value="352709"/>
<display value="CLN13 disease"/>
</concept>
<concept>
<code value="352712"/>
<display
value="Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"/>
</concept>
<concept>
<code value="352718"/>
<display
value="Progressive retinal dystrophy due to retinol transport defect"/>
</concept>
<concept>
<code value="352723"/>
<display value="Attenuated Chédiak-Higashi syndrome"/>
</concept>
<concept>
<code value="352731"/>
<display value="Oculocutaneous albinism type 1"/>
</concept>
<concept>
<code value="352734"/>
<display value="Minimal pigment oculocutaneous albinism type 1"/>
</concept>
<concept>
<code value="352737"/>
<display
value="Temperature-sensitive oculocutaneous albinism type 1"/>
</concept>
<concept>
<code value="352745"/>
<display value="Oculocutaneous albinism type 7"/>
</concept>
<concept>
<code value="352763"/>
<display value="Scleredema"/>
</concept>
<concept>
<code value="353"/>
<display
value="Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"/>
</concept>
<concept>
<code value="353217"/>
<display
value="Epileptic encephalopathy with global cerebral demyelination"/>
</concept>
<concept>
<code value="353220"/>
<display value="Familial primary localized cutaneous amyloidosis"/>
</concept>
<concept>
<code value="353253"/>
<display value="Burning mouth syndrome"/>
</concept>
<concept>
<code value="353277"/>
<display value="Rubinstein-Taybi syndrome due to CREBBP mutations"/>
</concept>
<concept>
<code value="353281"/>
<display
value="Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"/>
</concept>
<concept>
<code value="353284"/>
<display
value="Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"/>
</concept>
<concept>
<code value="353298"/>
<display value="Roifman syndrome"/>
</concept>
<concept>
<code value="353308"/>
<display value="Pyruvate carboxylase deficiency, infantile type"/>
</concept>
<concept>
<code value="353314"/>
<display
value="Pyruvate carboxylase deficiency, severe neonatal type"/>
</concept>
<concept>
<code value="353320"/>
<display value="Pyruvate carboxylase deficiency, benign type"/>
</concept>
<concept>
<code value="353327"/>
<display
value="Congenital myasthenic syndromes with glycosylation defect"/>
</concept>
<concept>
<code value="353334"/>
<display value="Congenital retinal arteriovenous communication"/>
</concept>
<concept>
<code value="353344"/>
<display value="Idiopathic macular telangiectasia type 1"/>
</concept>
<concept>
<code value="353351"/>
<display value="Idiopathic macular telangiectasia type 3"/>
</concept>
<concept>
<code value="353356"/>
<display value="Vasoproliferative tumor of the retina"/>
</concept>
<concept>
<code value="354"/>
<display value="GM1 gangliosidosis"/>
</concept>
<concept>
<code value="355"/>
<display value="Gaucher disease"/>
</concept>
<concept>
<code value="356"/>
<display value="Gerstmann-Straussler-Scheinker syndrome"/>
</concept>
<concept>
<code value="35612"/>
<display value="Nanophthalmos"/>
</concept>
<concept>
<code value="35664"/>
<display value="ALDH18A1-related De Barsy syndrome"/>
</concept>
<concept>
<code value="35686"/>
<display value="Serpiginous choroiditis"/>
</concept>
<concept>
<code value="35687"/>
<display value="Erdheim-Chester disease"/>
</concept>
<concept>
<code value="35689"/>
<display value="Primary lateral sclerosis"/>
</concept>
<concept>
<code value="356961"/>
<display value="SLC35A2-CDG"/>
</concept>
<concept>
<code value="356978"/>
<display value="D,L-2-hydroxyglutaric aciduria"/>
</concept>
<concept>
<code value="356996"/>
<display
value="ANK3-related intellectual disability-sleep disturbance syndrome"/>
</concept>
<concept>
<code value="357001"/>
<display value="19p13.13 microdeletion syndrome"/>
</concept>
<concept>
<code value="357008"/>
<display value="Hemolytic uremic syndrome with DGKE deficiency"/>
</concept>
<concept>
<code value="35701"/>
<display value="3-hydroxy-3-methylglutaryl-CoA synthase deficiency"/>
</concept>
<concept>
<code value="357027"/>
<display value="Hereditary retinoblastoma"/>
</concept>
<concept>
<code value="357034"/>
<display value="Non-hereditary retinoblastoma"/>
</concept>
<concept>
<code value="35704"/>
<display value="L-Arginine:glycine amidinotransferase deficiency"/>
</concept>
<concept>
<code value="357043"/>
<display value="Amyotrophic lateral sclerosis type 4"/>
</concept>
<concept>
<code value="357058"/>
<display value="Autosomal recessive cutis laxa type 2A"/>
</concept>
<concept>
<code value="35706"/>
<display value="Glutaric acidemia type 3"/>
</concept>
<concept>
<code value="357064"/>
<display value="Autosomal recessive cutis laxa type 2B"/>
</concept>
<concept>
<code value="357074"/>
<display value="Autosomal recessive cutis laxa type 2, classic type"/>
</concept>
<concept>
<code value="35708"/>
<display value="Aromatic L-amino acid decarboxylase deficiency"/>
</concept>
<concept>
<code value="35710"/>
<display value="Glucose-galactose malabsorption"/>
</concept>
<concept>
<code value="357107"/>
<display value="Arterial thoracic outlet syndrome"/>
</concept>
<concept>
<code value="357131"/>
<display value="Venous thoracic outlet syndrome"/>
</concept>
<concept>
<code value="357154"/>
<display value="Oral submucous fibrosis"/>
</concept>
<concept>
<code value="357158"/>
<display
value="Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome"/>
</concept>
<concept>
<code value="357175"/>
<display
value="Short ulna-dysmorphism-hypotonia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="357220"/>
<display value="Primary essential cutis verticis gyrata"/>
</concept>
<concept>
<code value="357225"/>
<display value="Primary non-essential cutis verticis gyrata"/>
</concept>
<concept>
<code value="357237"/>
<display value="Combined immunodeficiency due to CARD11 deficiency"/>
</concept>
<concept>
<code value="357329"/>
<display value="Combined immunodeficiency due to IL21R deficiency"/>
</concept>
<concept>
<code value="357332"/>
<display
value="Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"/>
</concept>
<concept>
<code value="35737"/>
<display value="Morning glory disc anomaly"/>
</concept>
<concept>
<code value="358"/>
<display value="Gitelman syndrome"/>
</concept>
<concept>
<code value="35858"/>
<display value="Imerslund-Gräsbeck syndrome"/>
</concept>
<concept>
<code value="35878"/>
<display value="Hyperinsulinism-hyperammonemia syndrome"/>
</concept>
<concept>
<code value="35889"/>
<display value="Acute opioid intoxication"/>
</concept>
<concept>
<code value="35909"/>
<display value="Combined deficiency of factor V and factor VIII"/>
</concept>
<concept>
<code value="36"/>
<display value="Acrocallosal syndrome"/>
</concept>
<concept>
<code value="360"/>
<display value="Glioblastoma"/>
</concept>
<concept>
<code value="361"/>
<display value="Familial glucocorticoid deficiency"/>
</concept>
<concept>
<code value="36234"/>
<display value="Bacterial toxic-shock syndrome"/>
</concept>
<concept>
<code value="36235"/>
<display value="Staphylococcal scarlet fever"/>
</concept>
<concept>
<code value="36236"/>
<display value="Staphylococcal scalded skin syndrome"/>
</concept>
<concept>
<code value="36237"/>
<display value="Bullous impetigo"/>
</concept>
<concept>
<code value="36238"/>
<display value="Staphylococcal necrotizing pneumonia"/>
</concept>
<concept>
<code value="36258"/>
<display value="Buerger disease"/>
</concept>
<concept>
<code value="36273"/>
<display value="Gastric linitis plastica"/>
</concept>
<concept>
<code value="363396"/>
<display value="High myopia-sensorineural deafness syndrome"/>
</concept>
<concept>
<code value="363400"/>
<display
value="Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome"/>
</concept>
<concept>
<code value="363409"/>
<display
value="Fetal akinesia-cerebral and retinal hemorrhage syndrome"/>
</concept>
<concept>
<code value="363412"/>
<display
value="Hypomyelination with brain stem and spinal cord involvement and leg spasticity"/>
</concept>
<concept>
<code value="363417"/>
<display value="Temtamy preaxial brachydactyly syndrome"/>
</concept>
<concept>
<code value="363424"/>
<display value="Multiple mitochondrial dysfunctions syndrome type 3"/>
</concept>
<concept>
<code value="363429"/>
<display
value="Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"/>
</concept>
<concept>
<code value="363432"/>
<display
value="Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"/>
</concept>
<concept>
<code value="363444"/>
<display
value="THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="363447"/>
<display
value="Autosomal dominant childhood-onset proximal spinal muscular atrophy"/>
</concept>
<concept>
<code value="363454"/>
<display
value="BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"/>
</concept>
<concept>
<code value="363478"/>
<display value="Paratesticular adenocarcinoma"/>
</concept>
<concept>
<code value="363483"/>
<display value="Testicular teratoma"/>
</concept>
<concept>
<code value="363489"/>
<display value="Sex cord-stromal tumor of testis"/>
</concept>
<concept>
<code value="363494"/>
<display value="Non-seminomatous germ cell tumor of testis"/>
</concept>
<concept>
<code value="363523"/>
<display
value="Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"/>
</concept>
<concept>
<code value="363528"/>
<display value="Intellectual disability-strabismus syndrome"/>
</concept>
<concept>
<code value="363534"/>
<display
value="Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"/>
</concept>
<concept>
<code value="363540"/>
<display
value="Leukoencephalopathy with mild cerebellar ataxia and white matter edema"/>
</concept>
<concept>
<code value="363549"/>
<display
value="Acute encephalopathy with biphasic seizures and late reduced diffusion"/>
</concept>
<concept>
<code value="36355"/>
<display value="Bleeding disorder due to P2Y12 defect"/>
</concept>
<concept>
<code value="363558"/>
<display value="New-onset refractory status epilepticus"/>
</concept>
<concept>
<code value="363611"/>
<display value="CTCF-related neurodevelopmental disorder"/>
</concept>
<concept>
<code value="363618"/>
<display value="LMNA-related cardiocutaneous progeria syndrome"/>
</concept>
<concept>
<code value="363623"/>
<display value="GMPPB-related limb-girdle muscular dystrophy R19"/>
</concept>
<concept>
<code value="363649"/>
<display
value="Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"/>
</concept>
<concept>
<code value="363654"/>
<display value="X-linked parkinsonism-spasticity syndrome"/>
</concept>
<concept>
<code value="363659"/>
<display value="20q11.2 microduplication syndrome"/>
</concept>
<concept>
<code value="363665"/>
<display
value="Acroosteolysis-keloid-like lesions-premature aging syndrome"/>
</concept>
<concept>
<code value="36367"/>
<display value="Distal deletion 1q syndrome"/>
</concept>
<concept>
<code value="363677"/>
<display
value="Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"/>
</concept>
<concept>
<code value="363680"/>
<display value="2p13.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="363686"/>
<display
value="Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"/>
</concept>
<concept>
<code value="363694"/>
<display
value="Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"/>
</concept>
<concept>
<code value="363700"/>
<display
value="Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"/>
</concept>
<concept>
<code value="363705"/>
<display value="Craniofaciofrontodigital syndrome"/>
</concept>
<concept>
<code value="363710"/>
<display value="Spinocerebellar ataxia type 37"/>
</concept>
<concept>
<code value="363717"/>
<display value="Alexander disease type I"/>
</concept>
<concept>
<code value="363722"/>
<display value="Alexander disease type II"/>
</concept>
<concept>
<code value="363727"/>
<display
value="X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"/>
</concept>
<concept>
<code value="363741"/>
<display
value="Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="363746"/>
<display value="Balint syndrome"/>
</concept>
<concept>
<code value="36383"/>
<display
value="COL4A1/2-related familial vascular leukoencephalopathy"/>
</concept>
<concept>
<code value="36386"/>
<display value="Hereditary sensory and autonomic neuropathy type 1"/>
</concept>
<concept>
<code value="36387"/>
<display value="Genetic epilepsy with febrile seizure plus"/>
</concept>
<concept>
<code value="363958"/>
<display value="17q21.31 microdeletion syndrome"/>
</concept>
<concept>
<code value="363965"/>
<display value="Koolen-De Vries syndrome due to a point mutation"/>
</concept>
<concept>
<code value="363969"/>
<display value="Autosomal recessive cerebral atrophy"/>
</concept>
<concept>
<code value="36397"/>
<display value="Adiposis dolorosa"/>
</concept>
<concept>
<code value="363972"/>
<display
value="Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"/>
</concept>
<concept>
<code value="363976"/>
<display value="Giant cell tumor of bone"/>
</concept>
<concept>
<code value="363981"/>
<display value="Charcot-Marie-Tooth disease type 4B3"/>
</concept>
<concept>
<code value="363989"/>
<display value="Familial benign flecked retina"/>
</concept>
<concept>
<code value="363992"/>
<display
value="Ichthyosis-short stature-brachydactyly-microspherophakia syndrome"/>
</concept>
<concept>
<code value="363999"/>
<display value="Non-immune hydrops fetalis"/>
</concept>
<concept>
<code value="364"/>
<display
value="Glycogen storage disease due to glucose-6-phosphatase deficiency"/>
</concept>
<concept>
<code value="364013"/>
<display value="Immune hydrops fetalis"/>
</concept>
<concept>
<code value="364028"/>
<display
value="X-linked intellectual disability due to GRIA3 mutations"/>
</concept>
<concept>
<code value="364033"/>
<display
value="Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood"/>
</concept>
<concept>
<code value="364039"/>
<display value="Hydroa vacciniforme-like lymphoma"/>
</concept>
<concept>
<code value="364043"/>
<display value="ALK-positive large B-cell lymphoma"/>
</concept>
<concept>
<code value="364055"/>
<display value="Severe early-childhood-onset retinal dystrophy"/>
</concept>
<concept>
<code value="364063"/>
<display value="Infantile epileptic-dyskinetic encephalopathy"/>
</concept>
<concept>
<code value="36412"/>
<display value="Hypocomplementemic urticarial vasculitis"/>
</concept>
<concept>
<code value="364198"/>
<display value="Bipartite talus"/>
</concept>
<concept>
<code value="36426"/>
<display value="Stevens-Johnson syndrome"/>
</concept>
<concept>
<code value="364577"/>
<display
value="Intellectual disability-brachydactyly-Pierre Robin syndrome"/>
</concept>
<concept>
<code value="365"/>
<display
value="Glycogen storage disease due to acid maltase deficiency"/>
</concept>
<concept>
<code value="366"/>
<display
value="Glycogen storage disease due to glycogen debranching enzyme deficiency"/>
</concept>
<concept>
<code value="367"/>
<display
value="Glycogen storage disease due to glycogen branching enzyme deficiency"/>
</concept>
<concept>
<code value="368"/>
<display
value="Glycogen storage disease due to muscle glycogen phosphorylase deficiency"/>
</concept>
<concept>
<code value="36899"/>
<display value="Myoclonus-dystonia syndrome"/>
</concept>
<concept>
<code value="369"/>
<display
value="Glycogen storage disease due to liver glycogen phosphorylase deficiency"/>
</concept>
<concept>
<code value="36913"/>
<display value="Autoimmune hypoparathyroidism"/>
</concept>
<concept>
<code value="369837"/>
<display
value="Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="369840"/>
<display value="TRAPPC11-related limb-girdle muscular dystrophy R18"/>
</concept>
<concept>
<code value="369847"/>
<display
value="Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"/>
</concept>
<concept>
<code value="369852"/>
<display
value="Congenital neutropenia-myelofibrosis-nephromegaly syndrome"/>
</concept>
<concept>
<code value="369861"/>
<display
value="Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"/>
</concept>
<concept>
<code value="369867"/>
<display
value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"/>
</concept>
<concept>
<code value="369873"/>
<display value="Obesity due to SIM1 deficiency"/>
</concept>
<concept>
<code value="369881"/>
<display value="2p21 microdeletion syndrome without cystinuria"/>
</concept>
<concept>
<code value="369891"/>
<display
value="Developmental delay-facial dysmorphism syndrome due to MED13L deficiency"/>
</concept>
<concept>
<code value="369897"/>
<display
value="Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"/>
</concept>
<concept>
<code value="369913"/>
<display value="Combined oxidative phosphorylation defect type 17"/>
</concept>
<concept>
<code value="369920"/>
<display value="Pontocerebellar hypoplasia type 9"/>
</concept>
<concept>
<code value="369929"/>
<display
value="Primary hyperaldosteronism-seizures-neurological abnormalities syndrome"/>
</concept>
<concept>
<code value="369939"/>
<display
value="Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"/>
</concept>
<concept>
<code value="369942"/>
<display value="CADDS"/>
</concept>
<concept>
<code value="369950"/>
<display
value="Intellectual disability-seizures-macrocephaly-obesity syndrome"/>
</concept>
<concept>
<code value="369955"/>
<display
value="Methylmalonic acidemia with homocystinuria, type cblJ"/>
</concept>
<concept>
<code value="369962"/>
<display
value="Methylmalonic acidemia with homocystinuria, type cblX"/>
</concept>
<concept>
<code value="369970"/>
<display
value="Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"/>
</concept>
<concept>
<code value="369979"/>
<display
value="Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"/>
</concept>
<concept>
<code value="369992"/>
<display
value="Severe dermatitis-multiple allergies-metabolic wasting syndrome"/>
</concept>
<concept>
<code value="369999"/>
<display
value="Diffuse palmoplantar keratoderma with painful fissures"/>
</concept>
<concept>
<code value="37"/>
<display value="Acrodermatitis enteropathica"/>
</concept>
<concept>
<code value="370002"/>
<display value="Focal palmoplantar keratoderma with joint keratoses"/>
</concept>
<concept>
<code value="370010"/>
<display
value="Intellectual disability-facial dysmorphism-hand anomalies syndrome"/>
</concept>
<concept>
<code value="370015"/>
<display
value="Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"/>
</concept>
<concept>
<code value="370022"/>
<display
value="Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"/>
</concept>
<concept>
<code value="370026"/>
<display
value="Acute myeloid leukemia with t(8;16)(p11;p13) translocation"/>
</concept>
<concept>
<code value="370034"/>
<display value="Familial syringomyelia"/>
</concept>
<concept>
<code value="370039"/>
<display value="Angora hair nevus"/>
</concept>
<concept>
<code value="370046"/>
<display value="Didymosis aplasticosebacea"/>
</concept>
<concept>
<code value="370052"/>
<display value="SCALP syndrome"/>
</concept>
<concept>
<code value="370059"/>
<display value="NEVADA syndrome"/>
</concept>
<concept>
<code value="370076"/>
<display value="Fetal carbamazepine syndrome"/>
</concept>
<concept>
<code value="370079"/>
<display value="Proximal 16p11.2 microduplication syndrome"/>
</concept>
<concept>
<code value="370088"/>
<display
value="Acute infantile liver failure-multisystemic involvement syndrome"/>
</concept>
<concept>
<code value="370091"/>
<display value="Oculocutaneous albinism type 5"/>
</concept>
<concept>
<code value="370097"/>
<display value="Oculocutaneous albinism type 6"/>
</concept>
<concept>
<code value="370103"/>
<display value="Primary dystonia, DYT17 type"/>
</concept>
<concept>
<code value="370109"/>
<display value="Ataxia-telangiectasia variant"/>
</concept>
<concept>
<code value="370127"/>
<display value="Medich giant platelet syndrome"/>
</concept>
<concept>
<code value="370131"/>
<display value="White platelet syndrome"/>
</concept>
<concept>
<code value="370334"/>
<display value="Extraskeletal Ewing sarcoma"/>
</concept>
<concept>
<code value="370348"/>
<display value="Peripheral primitive neuroectodermal tumor"/>
</concept>
<concept>
<code value="370396"/>
<display value="Small cell carcinoma of the ovary"/>
</concept>
<concept>
<code value="37042"/>
<display
value="Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"/>
</concept>
<concept>
<code value="370921"/>
<display value="STT3A-CDG"/>
</concept>
<concept>
<code value="370924"/>
<display value="STT3B-CDG"/>
</concept>
<concept>
<code value="370927"/>
<display value="SSR4-CDG"/>
</concept>
<concept>
<code value="370930"/>
<display value="XYLT1-CDG"/>
</concept>
<concept>
<code value="370933"/>
<display value="GM3 synthase deficiency"/>
</concept>
<concept>
<code value="370943"/>
<display
value="Autism spectrum disorder-epilepsy-arthrogryposis syndrome"/>
</concept>
<concept>
<code value="370959"/>
<display
value="Congenital muscular dystrophy with cerebellar involvement"/>
</concept>
<concept>
<code value="370968"/>
<display
value="Congenital muscular dystrophy with intellectual disability"/>
</concept>
<concept>
<code value="370980"/>
<display
value="Congenital muscular dystrophy without intellectual disability"/>
</concept>
<concept>
<code value="370997"/>
<display
value="Muscle-eye-brain disease with bilateral multicystic leucodystrophy"/>
</concept>
<concept>
<code value="371"/>
<display
value="Glycogen storage disease due to muscle phosphofructokinase deficiency"/>
</concept>
<concept>
<code value="371007"/>
<display value="Congenital muscular dystrophy with hyperlaxity"/>
</concept>
<concept>
<code value="371364"/>
<display
value="Hypotonia-speech impairment-severe cognitive delay syndrome"/>
</concept>
<concept>
<code value="371428"/>
<display
value="Multicentric osteolysis-nodulosis-arthropathy spectrum"/>
</concept>
<concept>
<code value="37202"/>
<display value="Interstitial cystitis"/>
</concept>
<concept>
<code value="373"/>
<display value="Simpson-Golabi-Behmel syndrome"/>
</concept>
<concept>
<code value="375"/>
<display value="Anti-glomerular basement membrane disease"/>
</concept>
<concept>
<code value="37553"/>
<display value="Andersen-Tawil syndrome"/>
</concept>
<concept>
<code value="37559"/>
<display value="Acquired kinky hair syndrome"/>
</concept>
<concept>
<code value="376"/>
<display value="Gordon syndrome"/>
</concept>
<concept>
<code value="37612"/>
<display value="Episodic ataxia type 1"/>
</concept>
<concept>
<code value="377"/>
<display value="Gorlin syndrome"/>
</concept>
<concept>
<code value="37748"/>
<display value="Schnitzler syndrome"/>
</concept>
<concept>
<code value="379"/>
<display value="Chronic granulomatous disease"/>
</concept>
<concept>
<code value="38"/>
<display value="Acrokeratoelastoidosis of Costa"/>
</concept>
<concept>
<code value="380"/>
<display value="Greig cephalopolysyndactyly syndrome"/>
</concept>
<concept>
<code value="381"/>
<display value="Griscelli syndrome"/>
</concept>
<concept>
<code value="382"/>
<display value="Guanidinoacetate methyltransferase deficiency"/>
</concept>
<concept>
<code value="384"/>
<display value="Huriez syndrome"/>
</concept>
<concept>
<code value="386"/>
<display value="Hepatic cystic hamartoma"/>
</concept>
<concept>
<code value="388"/>
<display value="Hirschsprung disease"/>
</concept>
<concept>
<code value="38874"/>
<display value="Dihydropyrimidinuria"/>
</concept>
<concept>
<code value="389"/>
<display value="Langerhans cell histiocytosis"/>
</concept>
<concept>
<code value="39"/>
<display value="Acromelanosis"/>
</concept>
<concept>
<code value="390"/>
<display value="Histoplasmosis"/>
</concept>
<concept>
<code value="39041"/>
<display value="Omenn syndrome"/>
</concept>
<concept>
<code value="39044"/>
<display value="Uveal melanoma"/>
</concept>
<concept>
<code value="391"/>
<display value="Classic Hodgkin lymphoma"/>
</concept>
<concept>
<code value="391307"/>
<display
value="Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="391311"/>
<display
value="Susceptibility to viral and mycobacterial infections due to STAT1 deficiency"/>
</concept>
<concept>
<code value="391316"/>
<display
value="Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"/>
</concept>
<concept>
<code value="391320"/>
<display value="East Texas bleeding disorder"/>
</concept>
<concept>
<code value="391327"/>
<display value="X-linked calvarial hyperostosis"/>
</concept>
<concept>
<code value="391330"/>
<display value="X-linked osteoporosis with fractures"/>
</concept>
<concept>
<code value="391343"/>
<display value="Fatal post-viral neurodegenerative disorder"/>
</concept>
<concept>
<code value="391348"/>
<display
value="Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"/>
</concept>
<concept>
<code value="391351"/>
<display value="SURF1-related Charcot-Marie-Tooth disease type 4"/>
</concept>
<concept>
<code value="391366"/>
<display
value="Growth retardation-mild developmental delay-chronic hepatitis syndrome"/>
</concept>
<concept>
<code value="391372"/>
<display value="FOXP1 Syndrome"/>
</concept>
<concept>
<code value="391376"/>
<display
value="Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome"/>
</concept>
<concept>
<code value="391384"/>
<display value="Familial episodic pain syndrome"/>
</concept>
<concept>
<code value="391389"/>
<display
value="Familial episodic pain syndrome with predominantly upper body involvement"/>
</concept>
<concept>
<code value="391392"/>
<display
value="Familial episodic pain syndrome with predominantly lower limb involvement"/>
</concept>
<concept>
<code value="391397"/>
<display value="Hereditary sensory and autonomic neuropathy type 7"/>
</concept>
<concept>
<code value="391408"/>
<display
value="Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"/>
</concept>
<concept>
<code value="391411"/>
<display value="Atypical juvenile parkinsonism"/>
</concept>
<concept>
<code value="391417"/>
<display value="HSD10 disease"/>
</concept>
<concept>
<code value="391428"/>
<display value="HSD10 disease, infantile type"/>
</concept>
<concept>
<code value="391457"/>
<display value="HSD10 disease, neonatal type"/>
</concept>
<concept>
<code value="391474"/>
<display value="Frontorhiny"/>
</concept>
<concept>
<code value="391487"/>
<display
value="STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"/>
</concept>
<concept>
<code value="391490"/>
<display value="Adult-onset myasthenia gravis"/>
</concept>
<concept>
<code value="391497"/>
<display value="Juvenile myasthenia gravis"/>
</concept>
<concept>
<code value="391504"/>
<display value="Transient neonatal myasthenia gravis"/>
</concept>
<concept>
<code value="391641"/>
<display value="Feingold syndrome type 1"/>
</concept>
<concept>
<code value="391646"/>
<display value="Feingold syndrome type 2"/>
</concept>
<concept>
<code value="391651"/>
<display value="Glomus tumor"/>
</concept>
<concept>
<code value="391655"/>
<display
value="Off-periods in Parkinson disease not responding to oral treatment"/>
</concept>
<concept>
<code value="391665"/>
<display value="Homozygous familial hypercholesterolemia"/>
</concept>
<concept>
<code value="391673"/>
<display value="Necrotizing enterocolitis"/>
</concept>
<concept>
<code value="391677"/>
<display
value="Short stature-optic atrophy-Pelger-Huët anomaly syndrome"/>
</concept>
<concept>
<code value="391723"/>
<display value="Mucinous adenocarcinoma of the appendix"/>
</concept>
<concept>
<code value="392"/>
<display value="Holt-Oram syndrome"/>
</concept>
<concept>
<code value="393"/>
<display value="46,XX testicular difference of sex development"/>
</concept>
<concept>
<code value="394"/>
<display
value="Homocystinuria due to cystathionine beta-synthase deficiency"/>
</concept>
<concept>
<code value="394529"/>
<display
value="Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"/>
</concept>
<concept>
<code value="394532"/>
<display
value="Multiple acyl-CoA dehydrogenase deficiency, mild type"/>
</concept>
<concept>
<code value="395"/>
<display
value="Homocystinuria due to methylene tetrahydrofolate reductase deficiency"/>
</concept>
<concept>
<code value="396"/>
<display value="Chronic hiccup"/>
</concept>
<concept>
<code value="397"/>
<display value="Giant cell arteritis"/>
</concept>
<concept>
<code value="397587"/>
<display value="Deep dermatophytosis"/>
</concept>
<concept>
<code value="397590"/>
<display value="Silver-Russell syndrome due to a point mutation"/>
</concept>
<concept>
<code value="397593"/>
<display
value="Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"/>
</concept>
<concept>
<code value="397606"/>
<display value="PrP systemic amyloidosis"/>
</concept>
<concept>
<code value="397612"/>
<display value="Macrocephaly-developmental delay syndrome"/>
</concept>
<concept>
<code value="397615"/>
<display value="Obesity due to CEP19 deficiency"/>
</concept>
<concept>
<code value="397618"/>
<display
value="Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"/>
</concept>
<concept>
<code value="397623"/>
<display
value="Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="397685"/>
<display value="Familial hyperprolactinemia"/>
</concept>
<concept>
<code value="397692"/>
<display value="Hereditary isolated aplastic anemia"/>
</concept>
<concept>
<code value="397709"/>
<display
value="Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"/>
</concept>
<concept>
<code value="397715"/>
<display
value="Joubert syndrome with Jeune asphyxiating thoracic dystrophy"/>
</concept>
<concept>
<code value="397725"/>
<display value="COASY protein-associated neurodegeneration"/>
</concept>
<concept>
<code value="397735"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2U"/>
</concept>
<concept>
<code value="397744"/>
<display
value="Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"/>
</concept>
<concept>
<code value="397750"/>
<display
value="Periodic paralysis with later-onset distal motor neuropathy"/>
</concept>
<concept>
<code value="397755"/>
<display
value="Periodic paralysis with transient compartment-like syndrome"/>
</concept>
<concept>
<code value="397758"/>
<display
value="Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"/>
</concept>
<concept>
<code value="397787"/>
<display value="Combined immunodeficiency due to IKBKB deficiency"/>
</concept>
<concept>
<code value="397922"/>
<display value="Ferro-cerebro-cutaneous syndrome"/>
</concept>
<concept>
<code value="397927"/>
<display
value="Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"/>
</concept>
<concept>
<code value="397933"/>
<display
value="Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"/>
</concept>
<concept>
<code value="397937"/>
<display value="Polyglucosan body myopathy type 1"/>
</concept>
<concept>
<code value="397941"/>
<display value="MAN1B1-CDG"/>
</concept>
<concept>
<code value="397946"/>
<display value="Autosomal spastic paraplegia type 58"/>
</concept>
<concept>
<code value="397951"/>
<display
value="Microcephaly-thin corpus callosum-intellectual disability syndrome"/>
</concept>
<concept>
<code value="397959"/>
<display value="TCR-alpha-beta-positive T-cell deficiency"/>
</concept>
<concept>
<code value="397964"/>
<display value="Combined immunodeficiency due to MALT1 deficiency"/>
</concept>
<concept>
<code value="397968"/>
<display value="Charcot-Marie-Tooth disease type 2R"/>
</concept>
<concept>
<code value="397973"/>
<display
value="Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"/>
</concept>
<concept>
<code value="398053"/>
<display value="Adenocarcinoma of the penis"/>
</concept>
<concept>
<code value="398058"/>
<display value="Squamous cell carcinoma of the penis"/>
</concept>
<concept>
<code value="398063"/>
<display value="Refractory celiac disease"/>
</concept>
<concept>
<code value="398069"/>
<display value="Schaaf-Yang syndrome"/>
</concept>
<concept>
<code value="398079"/>
<display value="SIM1-related Prader-Willi-like syndrome"/>
</concept>
<concept>
<code value="398088"/>
<display value="Hereditary cryohydrocytosis with normal stomatin"/>
</concept>
<concept>
<code value="398097"/>
<display value="Neonatal antiphospholipid syndrome"/>
</concept>
<concept>
<code value="398109"/>
<display value="Neonatal autoimmune hemolytic anemia"/>
</concept>
<concept>
<code value="398117"/>
<display value="Neonatal dermatomyositis"/>
</concept>
<concept>
<code value="39812"/>
<display value="Graft versus host disease"/>
</concept>
<concept>
<code value="398124"/>
<display value="Neonatal lupus erythematosus"/>
</concept>
<concept>
<code value="398127"/>
<display value="Neonatal scleroderma"/>
</concept>
<concept>
<code value="398147"/>
<display value="Persistent idiopathic facial pain"/>
</concept>
<concept>
<code value="398156"/>
<display value="Oculoauriculofrontonasal syndrome"/>
</concept>
<concept>
<code value="398166"/>
<display value="Focal facial dermal dysplasia"/>
</concept>
<concept>
<code value="398173"/>
<display value="Focal facial dermal dysplasia type II"/>
</concept>
<concept>
<code value="398189"/>
<display value="Focal facial dermal dysplasia type IV"/>
</concept>
<concept>
<code value="398961"/>
<display value="Mucinous adenocarcinoma of ovary"/>
</concept>
<concept>
<code value="398971"/>
<display value="Clear cell adenocarcinoma of the ovary"/>
</concept>
<concept>
<code value="398987"/>
<display value="Malignant teratoma of ovary"/>
</concept>
<concept>
<code value="399"/>
<display value="Huntington disease"/>
</concept>
<concept>
<code value="399058"/>
<display value="Alpha-B crystallin-related late-onset myopathy"/>
</concept>
<concept>
<code value="399081"/>
<display value="KLHL9-related early-onset distal myopathy"/>
</concept>
<concept>
<code value="399086"/>
<display value="HNRNPA1-related adult-onset distal myopathy"/>
</concept>
<concept>
<code value="399096"/>
<display value="Distal anoctaminopathy"/>
</concept>
<concept>
<code value="399103"/>
<display value="Distal nebulin myopathy"/>
</concept>
<concept>
<code value="399175"/>
<display value="Traumatic avascular necrosis"/>
</concept>
<concept>
<code value="399180"/>
<display value="Secondary non-traumatic avascular necrosis"/>
</concept>
<concept>
<code value="399293"/>
<display value="Osteonecrosis of the jaw"/>
</concept>
<concept>
<code value="399307"/>
<display value="Idiopathic avascular necrosis"/>
</concept>
<concept>
<code value="399329"/>
<display value="Epiphysiolysis of the hip"/>
</concept>
<concept>
<code value="399805"/>
<display
value="Male infertility with azoospermia or oligozoospermia due to single gene mutation"/>
</concept>
<concept>
<code value="399808"/>
<display
value="Male infertility with teratozoospermia due to single gene mutation"/>
</concept>
<concept>
<code value="40"/>
<display value="Acromesomelic dysplasia, Maroteaux type"/>
</concept>
<concept>
<code value="400"/>
<display value="Cystic echinococcosis"/>
</concept>
<concept>
<code value="401"/>
<display value="Hymenolepiasis"/>
</concept>
<concept>
<code value="401764"/>
<display value="Pancytopenia-developmental delay syndrome"/>
</concept>
<concept>
<code value="401768"/>
<display value="Proximal myopathy with extrapyramidal signs"/>
</concept>
<concept>
<code value="401777"/>
<display value="Optic atrophy-intellectual disability syndrome"/>
</concept>
<concept>
<code value="401780"/>
<display value="Autosomal recessive spastic paraplegia type 61"/>
</concept>
<concept>
<code value="401785"/>
<display value="Autosomal recessive spastic paraplegia type 62"/>
</concept>
<concept>
<code value="401795"/>
<display value="Autosomal recessive spastic paraplegia type 59"/>
</concept>
<concept>
<code value="401800"/>
<display value="Autosomal recessive spastic paraplegia type 60"/>
</concept>
<concept>
<code value="401805"/>
<display value="Autosomal recessive spastic paraplegia type 63"/>
</concept>
<concept>
<code value="401810"/>
<display value="Autosomal recessive spastic paraplegia type 64"/>
</concept>
<concept>
<code value="401815"/>
<display value="Autosomal recessive spastic paraplegia type 66"/>
</concept>
<concept>
<code value="401820"/>
<display value="Autosomal recessive spastic paraplegia type 67"/>
</concept>
<concept>
<code value="401830"/>
<display value="Autosomal recessive spastic paraplegia type 69"/>
</concept>
<concept>
<code value="401835"/>
<display value="Autosomal recessive spastic paraplegia type 70"/>
</concept>
<concept>
<code value="401840"/>
<display value="Autosomal recessive spastic paraplegia type 71"/>
</concept>
<concept>
<code value="401849"/>
<display value="Autosomal spastic paraplegia type 72"/>
</concept>
<concept>
<code value="401859"/>
<display value="Lipoic acid synthetase deficiency"/>
</concept>
<concept>
<code value="401862"/>
<display value="Lipoyl transferase 1 deficiency"/>
</concept>
<concept>
<code value="401866"/>
<display value="Childhood-onset spasticity with hyperglycinemia"/>
</concept>
<concept>
<code value="401869"/>
<display value="Multiple mitochondrial dysfunctions syndrome type 1"/>
</concept>
<concept>
<code value="401874"/>
<display value="Multiple mitochondrial dysfunctions syndrome type 2"/>
</concept>
<concept>
<code value="401901"/>
<display
value="Huntington disease-like syndrome due to C9ORF72 expansions"/>
</concept>
<concept>
<code value="401911"/>
<display value="AXIN2-related polyposis"/>
</concept>
<concept>
<code value="401920"/>
<display value="Fibrolamellar hepatocellular carcinoma"/>
</concept>
<concept>
<code value="401923"/>
<display value="9q31.1q31.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="401935"/>
<display value="14q24.1q24.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="401942"/>
<display value="Familial median cleft of the upper and lower lips"/>
</concept>
<concept>
<code value="401945"/>
<display value="Moyamoya disease with early-onset achalasia"/>
</concept>
<concept>
<code value="401948"/>
<display
value="Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"/>
</concept>
<concept>
<code value="401953"/>
<display value="Episodic ataxia with slurred speech"/>
</concept>
<concept>
<code value="401959"/>
<display
value="Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"/>
</concept>
<concept>
<code value="401964"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"/>
</concept>
<concept>
<code value="401973"/>
<display value="MEND syndrome"/>
</concept>
<concept>
<code value="401979"/>
<display
value="Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"/>
</concept>
<concept>
<code value="401986"/>
<display value="1p31p32 microdeletion syndrome"/>
</concept>
<concept>
<code value="401996"/>
<display value="Karyomegalic interstitial nephritis"/>
</concept>
<concept>
<code value="402003"/>
<display
value="Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"/>
</concept>
<concept>
<code value="402014"/>
<display value="Acute myeloid leukemia with t(6;9)(p23;q34)"/>
</concept>
<concept>
<code value="402017"/>
<display value="Acute myeloid leukemia with t(9;11)(p22;q23)"/>
</concept>
<concept>
<code value="402020"/>
<display
value="Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"/>
</concept>
<concept>
<code value="402023"/>
<display
value="Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)"/>
</concept>
<concept>
<code value="402026"/>
<display value="Acute myeloid leukemia with NPM1 somatic mutations"/>
</concept>
<concept>
<code value="402035"/>
<display value="Eosinophilic colitis"/>
</concept>
<concept>
<code value="402041"/>
<display value="Autosomal recessive distal renal tubular acidosis"/>
</concept>
<concept>
<code value="402075"/>
<display value="Familial bicuspid aortic valve"/>
</concept>
<concept>
<code value="402082"/>
<display value="Progressive myoclonic epilepsy type 5"/>
</concept>
<concept>
<code value="402364"/>
<display
value="Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"/>
</concept>
<concept>
<code value="402823"/>
<display value="Hepatitis delta"/>
</concept>
<concept>
<code value="403"/>
<display value="Familial hyperaldosteronism type I"/>
</concept>
<concept>
<code value="40366"/>
<display value="Acitretin/etretinate embryopathy"/>
</concept>
<concept>
<code value="404"/>
<display value="Familial hyperaldosteronism type II"/>
</concept>
<concept>
<code value="404437"/>
<display
value="Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"/>
</concept>
<concept>
<code value="404443"/>
<display value="Tatton-Brown-Rahman syndrome"/>
</concept>
<concept>
<code value="404448"/>
<display value="ADNP syndrome"/>
</concept>
<concept>
<code value="404451"/>
<display
value="FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"/>
</concept>
<concept>
<code value="404454"/>
<display
value="Alacrimia-choreoathetosis-liver dysfunction syndrome"/>
</concept>
<concept>
<code value="404463"/>
<display value="Multisystemic smooth muscle dysfunction syndrome"/>
</concept>
<concept>
<code value="404466"/>
<display value="Female infertility due to zona pellucida defect"/>
</concept>
<concept>
<code value="404473"/>
<display
value="Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome"/>
</concept>
<concept>
<code value="404476"/>
<display
value="Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"/>
</concept>
<concept>
<code value="404493"/>
<display
value="Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"/>
</concept>
<concept>
<code value="404499"/>
<display
value="Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency"/>
</concept>
<concept>
<code value="404507"/>
<display value="Chondromyxoid fibroma"/>
</concept>
<concept>
<code value="404511"/>
<display value="Clear cell papillary renal cell carcinoma"/>
</concept>
<concept>
<code value="404514"/>
<display
value="Acquired cystic disease-associated renal cell carcinoma"/>
</concept>
<concept>
<code value="404521"/>
<display
value="Spinal muscular atrophy with respiratory distress type 2"/>
</concept>
<concept>
<code value="404546"/>
<display value="DITRA"/>
</concept>
<concept>
<code value="404553"/>
<display value="Deficiency of adenosine deaminase 2"/>
</concept>
<concept>
<code value="404560"/>
<display value="Familial atypical multiple mole melanoma syndrome"/>
</concept>
<concept>
<code value="405"/>
<display value="Familial hypocalciuric hypercalcemia"/>
</concept>
<concept>
<code value="407"/>
<display value="Glycine encephalopathy"/>
</concept>
<concept>
<code value="408"/>
<display value="Isolated glycerol kinase deficiency"/>
</concept>
<concept>
<code value="409"/>
<display value="Hyperkeratosis lenticularis perstans"/>
</concept>
<concept>
<code value="40923"/>
<display value="Eales disease"/>
</concept>
<concept>
<code value="41"/>
<display value="Dyschromatosis symmetrica hereditaria"/>
</concept>
<concept>
<code value="411493"/>
<display value="Pontocerebellar hypoplasia type 10"/>
</concept>
<concept>
<code value="411501"/>
<display value="Williams-Campbell syndrome"/>
</concept>
<concept>
<code value="411511"/>
<display value="Angelman syndrome due to a point mutation"/>
</concept>
<concept>
<code value="411515"/>
<display
value="Angelman syndrome due to imprinting defect in 15q11-q13"/>
</concept>
<concept>
<code value="411527"/>
<display value="Central retinal vein occlusion"/>
</concept>
<concept>
<code value="411536"/>
<display
value="Mild phosphoribosylpyrophosphate synthetase superactivity"/>
</concept>
<concept>
<code value="411543"/>
<display
value="Severe phosphoribosylpyrophosphate synthetase superactivity"/>
</concept>
<concept>
<code value="411590"/>
<display value="Wolfram-like syndrome"/>
</concept>
<concept>
<code value="411593"/>
<display value="Insulin autoimmune syndrome"/>
</concept>
<concept>
<code value="411602"/>
<display value="Hereditary late-onset Parkinson disease"/>
</concept>
<concept>
<code value="411629"/>
<display value="Infantile nephropathic cystinosis"/>
</concept>
<concept>
<code value="411634"/>
<display value="Juvenile nephropathic cystinosis"/>
</concept>
<concept>
<code value="411641"/>
<display value="Ocular cystinosis"/>
</concept>
<concept>
<code value="411696"/>
<display
value="Proton-pump inhibitor-responsive esophageal eosinophilia"/>
</concept>
<concept>
<code value="411703"/>
<display value="Pulmonary non-tuberculous mycobacterial infection"/>
</concept>
<concept>
<code value="411709"/>
<display value="Renal agenesis"/>
</concept>
<concept>
<code value="411712"/>
<display value="Maternal riboflavin deficiency"/>
</concept>
<concept>
<code value="411777"/>
<display value="Generalized eruptive keratoacanthoma"/>
</concept>
<concept>
<code value="411788"/>
<display value="Familial isolated trichomegaly"/>
</concept>
<concept>
<code value="411986"/>
<display
value="Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="412"/>
<display value="Dysbetalipoproteinemia"/>
</concept>
<concept>
<code value="412022"/>
<display
value="Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"/>
</concept>
<concept>
<code value="412035"/>
<display value="13q12.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="412057"/>
<display
value="Autosomal recessive cerebellar ataxia due to STUB1 deficiency"/>
</concept>
<concept>
<code value="412066"/>
<display
value="PRKAR1B-related neurodegenerative dementia with intermediate filaments"/>
</concept>
<concept>
<code value="412069"/>
<display
value="AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"/>
</concept>
<concept>
<code value="412181"/>
<display
value="Epidermolysis bullosa simplex due to BP230 deficiency"/>
</concept>
<concept>
<code value="412189"/>
<display
value="Epidermolysis bullosa simplex due to exophilin 5 deficiency"/>
</concept>
<concept>
<code value="412206"/>
<display value="Primary failure of tooth eruption"/>
</concept>
<concept>
<code value="412217"/>
<display value="Dystonia-aphonia syndrome"/>
</concept>
<concept>
<code value="414"/>
<display value="Gyrate atrophy of choroid and retina"/>
</concept>
<concept>
<code value="415"/>
<display
value="Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"/>
</concept>
<concept>
<code value="416"/>
<display value="Primary hyperoxaluria"/>
</concept>
<concept>
<code value="417"/>
<display value="Neonatal severe primary hyperparathyroidism"/>
</concept>
<concept>
<code value="41751"/>
<display value="Bietti crystalline dystrophy"/>
</concept>
<concept>
<code value="418945"/>
<display value="Carcinoma of esophagus, salivary gland type"/>
</concept>
<concept>
<code value="418951"/>
<display value="Undifferentiated carcinoma of esophagus"/>
</concept>
<concept>
<code value="418959"/>
<display value="Squamous cell carcinoma of the stomach"/>
</concept>
<concept>
<code value="419"/>
<display value="Hyperprolinemia type 1"/>
</concept>
<concept>
<code value="42"/>
<display value="Medium chain acyl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="420179"/>
<display value="Malan overgrowth syndrome"/>
</concept>
<concept>
<code value="420259"/>
<display value="Secondary pulmonary alveolar proteinosis"/>
</concept>
<concept>
<code value="420402"/>
<display value="Semicircular canal dehiscence syndrome"/>
</concept>
<concept>
<code value="420429"/>
<display
value="Glycogen storage disease due to acid maltase deficiency, late-onset"/>
</concept>
<concept>
<code value="420485"/>
<display
value="Cranio-cervical dystonia with laryngeal and upper-limb involvement"/>
</concept>
<concept>
<code value="420492"/>
<display value="Adult-onset cervical dystonia, DYT23 type"/>
</concept>
<concept>
<code value="420556"/>
<display value="Visual snow syndrome"/>
</concept>
<concept>
<code value="420561"/>
<display value="Temple-Baraitser syndrome"/>
</concept>
<concept>
<code value="420566"/>
<display value="Bleeding disorder due to CalDAG-GEFI deficiency"/>
</concept>
<concept>
<code value="420573"/>
<display
value="Severe combined immunodeficiency due to CTPS1 deficiency"/>
</concept>
<concept>
<code value="420584"/>
<display
value="Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="420611"/>
<display value="Transient myeloproliferative syndrome"/>
</concept>
<concept>
<code value="42062"/>
<display value="Iminoglycinuria"/>
</concept>
<concept>
<code value="420686"/>
<display value="Woolly hair-palmoplantar keratoderma syndrome"/>
</concept>
<concept>
<code value="420699"/>
<display
value="Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"/>
</concept>
<concept>
<code value="420702"/>
<display
value="Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"/>
</concept>
<concept>
<code value="420728"/>
<display value="Combined oxidative phosphorylation defect type 20"/>
</concept>
<concept>
<code value="420733"/>
<display value="Combined oxidative phosphorylation defect type 21"/>
</concept>
<concept>
<code value="420741"/>
<display value="RIDDLE syndrome"/>
</concept>
<concept>
<code value="420789"/>
<display
value="Autoimmune encephalopathy with parasomnia and obstructive sleep apnea"/>
</concept>
<concept>
<code value="420794"/>
<display value="Cono-spondylar dysplasia"/>
</concept>
<concept>
<code value="422"/>
<display
value="Idiopathic/heritable pulmonary arterial hypertension"/>
</concept>
<concept>
<code value="422526"/>
<display value="Hereditary clear cell renal cell carcinoma"/>
</concept>
<concept>
<code value="423"/>
<display value="Malignant hyperthermia of anesthesia"/>
</concept>
<concept>
<code value="423275"/>
<display value="Spinocerebellar ataxia type 40"/>
</concept>
<concept>
<code value="423296"/>
<display value="Spinocerebellar ataxia type 38"/>
</concept>
<concept>
<code value="423306"/>
<display
value="Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="423384"/>
<display
value="Severe congenital neutropenia due to JAGN1 deficiency"/>
</concept>
<concept>
<code value="423454"/>
<display
value="Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"/>
</concept>
<concept>
<code value="423461"/>
<display value="Mucolipidosis type III alpha/beta"/>
</concept>
<concept>
<code value="423470"/>
<display value="Mucolipidosis type III gamma"/>
</concept>
<concept>
<code value="423479"/>
<display
value="X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency"/>
</concept>
<concept>
<code value="423693"/>
<display
value="Double outlet right ventricle with subaortic or doubly committed ventricular septal defect"/>
</concept>
<concept>
<code value="423712"/>
<display
value="Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy"/>
</concept>
<concept>
<code value="423717"/>
<display value="Cutaneous larva migrans"/>
</concept>
<concept>
<code value="423786"/>
<display value="Undifferentiated carcinoma of stomach"/>
</concept>
<concept>
<code value="423894"/>
<display
value="Microcephaly-complex motor and sensory axonal neuropathy syndrome"/>
</concept>
<concept>
<code value="423968"/>
<display value="Squamous cell carcinoma of the small intestine"/>
</concept>
<concept>
<code value="423994"/>
<display value="Squamous cell carcinoma of the colon"/>
</concept>
<concept>
<code value="424"/>
<display
value="Familial hyperthyroidism due to mutations in TSH receptor"/>
</concept>
<concept>
<code value="424002"/>
<display value="Squamous cell carcinoma of the rectum"/>
</concept>
<concept>
<code value="424016"/>
<display value="Adenocarcinoma of the anal canal"/>
</concept>
<concept>
<code value="424019"/>
<display value="Squamous cell carcinoma of the anal canal"/>
</concept>
<concept>
<code value="424027"/>
<display value="Progressive myoclonic epilepsy type 8"/>
</concept>
<concept>
<code value="424039"/>
<display value="Squamous cell carcinoma of pancreas"/>
</concept>
<concept>
<code value="424046"/>
<display value="Acinar cell carcinoma of pancreas"/>
</concept>
<concept>
<code value="424053"/>
<display value="Mucinous cystadenocarcinoma of the pancreas"/>
</concept>
<concept>
<code value="424058"/>
<display
value="Intraductal papillary mucinous carcinoma of pancreas"/>
</concept>
<concept>
<code value="424065"/>
<display value="Pancreatic solid pseudopapillary neoplasm"/>
</concept>
<concept>
<code value="424073"/>
<display value="Serous cystadenocarcinoma of pancreas"/>
</concept>
<concept>
<code value="424080"/>
<display
value="Undifferentiated carcinoma with osteoclast-like giant cells of pancreas"/>
</concept>
<concept>
<code value="424099"/>
<display
value="Colobomatous microphthalmia-rhizomelic dysplasia syndrome"/>
</concept>
<concept>
<code value="424107"/>
<display value="Congenital myopathy with myasthenic-like onset"/>
</concept>
<concept>
<code value="424261"/>
<display value="TOR1AIP1-related limb-girdle muscular dystrophy"/>
</concept>
<concept>
<code value="424943"/>
<display
value="Adenocarcinoma of the liver and intrahepatic biliary tract"/>
</concept>
<concept>
<code value="424970"/>
<display
value="Undifferentiated carcinoma of liver and intrahepatic biliary tract"/>
</concept>
<concept>
<code value="424975"/>
<display
value="Squamous cell carcinoma of liver and intrahepatic biliary tract"/>
</concept>
<concept>
<code value="424982"/>
<display value="Biliary cystadenocarcinoma"/>
</concept>
<concept>
<code value="424991"/>
<display
value="Adenocarcinoma of the gallbladder and extrahepatic biliary tract"/>
</concept>
<concept>
<code value="424996"/>
<display
value="Squamous cell carcinoma of gallbladder and extrahepatic biliary tract"/>
</concept>
<concept>
<code value="425"/>
<display value="Apolipoprotein A-I deficiency"/>
</concept>
<concept>
<code value="425120"/>
<display value="STING-associated vasculopathy with onset in infancy"/>
</concept>
<concept>
<code value="42642"/>
<display value="PFAPA syndrome"/>
</concept>
<concept>
<code value="42665"/>
<display value="Tietz syndrome"/>
</concept>
<concept>
<code value="427"/>
<display value="Familial hypoaldosteronism"/>
</concept>
<concept>
<code value="42775"/>
<display value="PHACE syndrome"/>
</concept>
<concept>
<code value="428"/>
<display value="Autosomal dominant hypocalcemia"/>
</concept>
<concept>
<code value="429"/>
<display value="Hypochondroplasia"/>
</concept>
<concept>
<code value="43"/>
<display value="X-linked adrenoleukodystrophy"/>
</concept>
<concept>
<code value="431140"/>
<display
value="X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"/>
</concept>
<concept>
<code value="431149"/>
<display value="Combined immunodeficiency due to OX40 deficiency"/>
</concept>
<concept>
<code value="43115"/>
<display
value="Hereditary myopathy with lactic acidosis due to ISCU deficiency"/>
</concept>
<concept>
<code value="43116"/>
<display value="Serotonin syndrome"/>
</concept>
<concept>
<code value="431166"/>
<display
value="Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"/>
</concept>
<concept>
<code value="43117"/>
<display value="Acute tricyclic antidepressant poisoning"/>
</concept>
<concept>
<code value="43119"/>
<display
value="Acute poisoning by drugs with membrane-stabilizing effect"/>
</concept>
<concept>
<code value="431255"/>
<display value="Scapuloperoneal spinal muscular atrophy"/>
</concept>
<concept>
<code value="431272"/>
<display value="X-linked scapuloperoneal muscular dystrophy"/>
</concept>
<concept>
<code value="431329"/>
<display value="Autosomal recessive spastic paraplegia type 57"/>
</concept>
<concept>
<code value="431341"/>
<display value="Patent urachus"/>
</concept>
<concept>
<code value="431344"/>
<display value="Urachal sinus"/>
</concept>
<concept>
<code value="431347"/>
<display value="Urachal diverticulum"/>
</concept>
<concept>
<code value="431361"/>
<display
value="Progressive encephalopathy with leukodystrophy due to DECR deficiency"/>
</concept>
<concept>
<code value="432"/>
<display value="Normosmic congenital hypogonadotropic hypogonadism"/>
</concept>
<concept>
<code value="43393"/>
<display value="Lambert-Eaton myasthenic syndrome"/>
</concept>
<concept>
<code value="434179"/>
<display value="Orofaciodigital syndrome type 14"/>
</concept>
<concept>
<code value="435329"/>
<display value="Familial ossifying fibroma"/>
</concept>
<concept>
<code value="435372"/>
<display value="Anterior urethral valve"/>
</concept>
<concept>
<code value="435387"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2Y"/>
</concept>
<concept>
<code value="435438"/>
<display value="Progressive myoclonic epilepsy type 7"/>
</concept>
<concept>
<code value="435628"/>
<display value="Keppen-Lubinsky syndrome"/>
</concept>
<concept>
<code value="435638"/>
<display value="3p25.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="435651"/>
<display value="CIDEC-related familial partial lipodystrophy"/>
</concept>
<concept>
<code value="435660"/>
<display value="LIPE-related familial partial lipodystrophy"/>
</concept>
<concept>
<code value="435804"/>
<display
value="Short stature-advanced bone age-early-onset osteoarthritis syndrome"/>
</concept>
<concept>
<code value="435819"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"/>
</concept>
<concept>
<code value="435845"/>
<display
value="Lethal neonatal spasticity-epileptic encephalopathy syndrome"/>
</concept>
<concept>
<code value="435930"/>
<display
value="Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"/>
</concept>
<concept>
<code value="435934"/>
<display value="COG2-CDG"/>
</concept>
<concept>
<code value="435938"/>
<display
value="X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"/>
</concept>
<concept>
<code value="435953"/>
<display
value="Progeroid features-hepatocellular carcinoma predisposition syndrome"/>
</concept>
<concept>
<code value="435988"/>
<display value="Chronic atrial and intestinal dysrhythmia syndrome"/>
</concept>
<concept>
<code value="435998"/>
<display
value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type D"/>
</concept>
<concept>
<code value="436"/>
<display value="Hypophosphatasia"/>
</concept>
<concept>
<code value="436003"/>
<display
value="Contractures-developmental delay-Pierre Robin syndrome"/>
</concept>
<concept>
<code value="436141"/>
<display value="HIDEA syndrome"/>
</concept>
<concept>
<code value="436144"/>
<display
value="Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"/>
</concept>
<concept>
<code value="436151"/>
<display
value="Intellectual disability-expressive aphasia-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="436159"/>
<display
value="Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"/>
</concept>
<concept>
<code value="436166"/>
<display
value="Periodic fever-infantile enterocolitis-autoinflammatory syndrome"/>
</concept>
<concept>
<code value="436169"/>
<display value="Thrombomodulin-related bleeding disorder"/>
</concept>
<concept>
<code value="436174"/>
<display
value="Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"/>
</concept>
<concept>
<code value="436182"/>
<display
value="Microcephalic primordial dwarfism-insulin resistance syndrome"/>
</concept>
<concept>
<code value="436242"/>
<display
value="Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"/>
</concept>
<concept>
<code value="436245"/>
<display
value="Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"/>
</concept>
<concept>
<code value="436252"/>
<display
value="Combined immunodeficiency-multiple intestinal atresia"/>
</concept>
<concept>
<code value="436271"/>
<display
value="Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"/>
</concept>
<concept>
<code value="436274"/>
<display
value="Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"/>
</concept>
<concept>
<code value="437552"/>
<display
value="Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"/>
</concept>
<concept>
<code value="438075"/>
<display
value="Ketoacidosis due to monocarboxylate transporter-1 deficiency"/>
</concept>
<concept>
<code value="438114"/>
<display
value="RARS-related autosomal recessive hypomyelinating leukodystrophy"/>
</concept>
<concept>
<code value="438117"/>
<display value="Steel syndrome"/>
</concept>
<concept>
<code value="438134"/>
<display
value="PCNA-related progressive neurodegenerative photosensitivity syndrome"/>
</concept>
<concept>
<code value="438159"/>
<display
value="STAT3-related early-onset multisystem autoimmune disease"/>
</concept>
<concept>
<code value="438178"/>
<display value="Fatty acyl-CoA reductase 1 deficiency"/>
</concept>
<concept>
<code value="438207"/>
<display value="Severe autosomal recessive macrothrombocytopenia"/>
</concept>
<concept>
<code value="438213"/>
<display
value="PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"/>
</concept>
<concept>
<code value="438216"/>
<display
value="PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"/>
</concept>
<concept>
<code value="438266"/>
<display
value="Progressive encephalomyelitis with rigidity and myoclonus"/>
</concept>
<concept>
<code value="438274"/>
<display value="GCGR-related hyperglucagonemia"/>
</concept>
<concept>
<code value="438279"/>
<display value="Human infection by orthopoxvirus"/>
</concept>
<concept>
<code value="439"/>
<display value="Isolated right ventricular hypoplasia"/>
</concept>
<concept>
<code value="439167"/>
<display value="Placental insufficiency"/>
</concept>
<concept>
<code value="439175"/>
<display value="Pediatric arterial ischemic stroke"/>
</concept>
<concept>
<code value="439196"/>
<display value="Zinc-responsive necrolytic acral erythema"/>
</concept>
<concept>
<code value="439202"/>
<display value="Non-recovering obstetric brachial plexus lesion"/>
</concept>
<concept>
<code value="439212"/>
<display
value="Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"/>
</concept>
<concept>
<code value="439218"/>
<display
value="KCNQ2-related developmental and epileptic encephalopathy"/>
</concept>
<concept>
<code value="439224"/>
<display value="ALECT2 amyloidosis"/>
</concept>
<concept>
<code value="439232"/>
<display value="AApoAIV amyloidosis"/>
</concept>
<concept>
<code value="439254"/>
<display value="ITM2B amyloidosis"/>
</concept>
<concept>
<code value="439729"/>
<display value="Cutaneous polyarteritis nodosa"/>
</concept>
<concept>
<code value="439737"/>
<display value="Primary polyarteritis nodosa"/>
</concept>
<concept>
<code value="439746"/>
<display value="Secondary polyarteritis nodosa"/>
</concept>
<concept>
<code value="439755"/>
<display value="Single-organ polyarteritis nodosa"/>
</concept>
<concept>
<code value="439762"/>
<display value="Systemic polyarteritis nodosa"/>
</concept>
<concept>
<code value="439822"/>
<display value="PDE4D haploinsufficiency syndrome"/>
</concept>
<concept>
<code value="439854"/>
<display
value="Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"/>
</concept>
<concept>
<code value="439881"/>
<display value="Plastic bronchitis"/>
</concept>
<concept>
<code value="439897"/>
<display
value="Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"/>
</concept>
<concept>
<code value="44"/>
<display value="Neonatal adrenoleukodystrophy"/>
</concept>
<concept>
<code value="440221"/>
<display value="Congenital oculomotor nerve palsy"/>
</concept>
<concept>
<code value="440233"/>
<display value="Congenital abducens nerve palsy"/>
</concept>
<concept>
<code value="440354"/>
<display
value="Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"/>
</concept>
<concept>
<code value="440368"/>
<display value="Necrotizing soft tissue infection"/>
</concept>
<concept>
<code value="440392"/>
<display value="Interstitial lung disease due to SP-C deficiency"/>
</concept>
<concept>
<code value="440402"/>
<display value="Interstitial lung disease due to ABCA3 deficiency"/>
</concept>
<concept>
<code value="440427"/>
<display
value="Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"/>
</concept>
<concept>
<code value="440437"/>
<display value="Familial colorectal cancer Type X"/>
</concept>
<concept>
<code value="440706"/>
<display value="Ribose-5-P isomerase deficiency"/>
</concept>
<concept>
<code value="440713"/>
<display value="Isolated sedoheptulokinase deficiency"/>
</concept>
<concept>
<code value="440724"/>
<display value="Extensive peripapillary myelinated nerve fibers"/>
</concept>
<concept>
<code value="440727"/>
<display
value="Combined hamartoma of the retina and retinal pigment epithelium"/>
</concept>
<concept>
<code value="440731"/>
<display value="L-ferritin deficiency"/>
</concept>
<concept>
<code value="440987"/>
<display value="Isolated agenesis of gallbladder"/>
</concept>
<concept>
<code value="441"/>
<display value="Pure autonomic failure"/>
</concept>
<concept>
<code value="441447"/>
<display value="Early-onset posterior subcapsular cataract"/>
</concept>
<concept>
<code value="441452"/>
<display value="Early-onset lamellar cataract"/>
</concept>
<concept>
<code value="442582"/>
<display value="AH amyloidosis"/>
</concept>
<concept>
<code value="442835"/>
<display value="Non-specific early-onset epileptic encephalopathy"/>
</concept>
<concept>
<code value="443057"/>
<display value="Sporadic porphyria cutanea tarda"/>
</concept>
<concept>
<code value="443062"/>
<display value="Familial porphyria cutanea tarda"/>
</concept>
<concept>
<code value="443070"/>
<display value="Hemicrania continua"/>
</concept>
<concept>
<code value="443073"/>
<display value="Charcot-Marie-Tooth disease type 2S"/>
</concept>
<concept>
<code value="443079"/>
<display value="Central serous chorioretinopathy"/>
</concept>
<concept>
<code value="443084"/>
<display value="Baroreflex failure"/>
</concept>
<concept>
<code value="443087"/>
<display
value="46,XY difference of sex development due to testicular 17,20-desmolase deficiency"/>
</concept>
<concept>
<code value="443098"/>
<display value="Hyperostosis cranialis interna"/>
</concept>
<concept>
<code value="443101"/>
<display value="Hypothalamic adipsic hypernatraemia syndrome"/>
</concept>
<concept>
<code value="443159"/>
<display value="Lymphoplasmacytic lymphoma without IgM production"/>
</concept>
<concept>
<code value="443162"/>
<display value="NDE1-related microhydranencephaly"/>
</concept>
<concept>
<code value="443167"/>
<display value="NUT midline carcinoma"/>
</concept>
<concept>
<code value="443173"/>
<display value="Postpartum psychosis"/>
</concept>
<concept>
<code value="443180"/>
<display value="Spontaneous intracranial hypotension"/>
</concept>
<concept>
<code value="443192"/>
<display value="Classic stiff person syndrome"/>
</concept>
<concept>
<code value="443197"/>
<display value="X-linked erythropoietic protoporphyria"/>
</concept>
<concept>
<code value="443227"/>
<display value="Paratyphoid fever"/>
</concept>
<concept>
<code value="443236"/>
<display
value="Postural orthostatic tachycardia syndrome due to NET deficiency"/>
</concept>
<concept>
<code value="443291"/>
<display value="HIV-associated cancer"/>
</concept>
<concept>
<code value="443804"/>
<display value="Focal stiff limb syndrome"/>
</concept>
<concept>
<code value="443811"/>
<display value="PGM3-CDG"/>
</concept>
<concept>
<code value="443950"/>
<display value="DNAJB2-related Charcot-Marie-Tooth disease type 2"/>
</concept>
<concept>
<code value="443988"/>
<display value="Ventriculomegaly-cystic kidney disease"/>
</concept>
<concept>
<code value="443995"/>
<display value="Mandibulofacial dysostosis with alopecia"/>
</concept>
<concept>
<code value="444"/>
<display value="Marie Unna hereditary hypotrichosis"/>
</concept>
<concept>
<code value="444002"/>
<display value="11q22.2q22.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="444013"/>
<display value="Combined oxidative phosphorylation defect type 23"/>
</concept>
<concept>
<code value="444048"/>
<display value="46,XX ovarian dysgenesis-short stature syndrome"/>
</concept>
<concept>
<code value="444051"/>
<display value="20q11.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="444069"/>
<display
value="Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"/>
</concept>
<concept>
<code value="444072"/>
<display value="Cerebellar-facial-dental syndrome"/>
</concept>
<concept>
<code value="444077"/>
<display
value="Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"/>
</concept>
<concept>
<code value="444092"/>
<display
value="Autoimmune interstitial lung disease-arthritis syndrome"/>
</concept>
<concept>
<code value="444099"/>
<display value="Autosomal dominant spastic paraplegia type 73"/>
</concept>
<concept>
<code value="444138"/>
<display
value="Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"/>
</concept>
<concept>
<code value="444316"/>
<display value="Idiopathic phalangeal acro-osteolysis"/>
</concept>
<concept>
<code value="444458"/>
<display value="Combined oxidative phosphorylation defect type 24"/>
</concept>
<concept>
<code value="444463"/>
<display
value="Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency"/>
</concept>
<concept>
<code value="444490"/>
<display value="Familial chylomicronemia syndrome"/>
</concept>
<concept>
<code value="445018"/>
<display value="Combined immunodeficiency due to LRBA deficiency"/>
</concept>
<concept>
<code value="445038"/>
<display
value="3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome"/>
</concept>
<concept>
<code value="445062"/>
<display
value="Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"/>
</concept>
<concept>
<code value="445110"/>
<display
value="Limb-girdle muscular dystrophy due to POMK deficiency"/>
</concept>
<concept>
<code value="446"/>
<display value="Neonatal hemochromatosis"/>
</concept>
<concept>
<code value="447"/>
<display value="Paroxysmal nocturnal hemoglobinuria"/>
</concept>
<concept>
<code value="447731"/>
<display value="NIK deficiency"/>
</concept>
<concept>
<code value="447737"/>
<display value="Combined immunodeficiency due to DOCK2 deficiency"/>
</concept>
<concept>
<code value="447740"/>
<display value="Aggressive periodontitis"/>
</concept>
<concept>
<code value="447753"/>
<display value="Autosomal dominant spastic paraplegia type 9A"/>
</concept>
<concept>
<code value="447757"/>
<display value="Autosomal dominant spastic paraplegia type 9B"/>
</concept>
<concept>
<code value="447760"/>
<display value="Autosomal recessive spastic paraplegia type 9B"/>
</concept>
<concept>
<code value="447764"/>
<display value="IgG4-related sclerosing cholangitis"/>
</concept>
<concept>
<code value="447774"/>
<display value="Secondary sclerosing cholangitis"/>
</concept>
<concept>
<code value="447777"/>
<display value="Keratocystic odontogenic tumor"/>
</concept>
<concept>
<code value="447784"/>
<display value="Mitochondrial pyruvate carrier deficiency"/>
</concept>
<concept>
<code value="447788"/>
<display value="Cerebral visual impairment"/>
</concept>
<concept>
<code value="447795"/>
<display value="Lipoyl transferase 2 deficiency"/>
</concept>
<concept>
<code value="447877"/>
<display value="Polymerase proofreading-related polyposis"/>
</concept>
<concept>
<code value="447881"/>
<display value="Idiopathic dropped head syndrome"/>
</concept>
<concept>
<code value="447893"/>
<display
value="Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"/>
</concept>
<concept>
<code value="447896"/>
<display value="Tremor-ataxia-central hypomyelination syndrome"/>
</concept>
<concept>
<code value="447954"/>
<display value="Combined oxidative phosphorylation defect type 25"/>
</concept>
<concept>
<code value="447961"/>
<display
value="Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"/>
</concept>
<concept>
<code value="447964"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2V"/>
</concept>
<concept>
<code value="447974"/>
<display
value="Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="447977"/>
<display value="Progressive scapulohumeroperoneal distal myopathy"/>
</concept>
<concept>
<code value="447980"/>
<display value="19p13.3 microduplication syndrome"/>
</concept>
<concept>
<code value="447997"/>
<display
value="Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"/>
</concept>
<concept>
<code value="448010"/>
<display value="CAD-CDG"/>
</concept>
<concept>
<code value="448237"/>
<display value="Zika virus disease"/>
</concept>
<concept>
<code value="448242"/>
<display value="Autosomal recessive brachyolmia"/>
</concept>
<concept>
<code value="448251"/>
<display
value="Progressive autosomal recessive ataxia-deafness syndrome"/>
</concept>
<concept>
<code value="448264"/>
<display
value="Isolated focal non-epidermolytic palmoplantar keratoderma"/>
</concept>
<concept>
<code value="448267"/>
<display value="Regressive spondylometaphyseal dysplasia"/>
</concept>
<concept>
<code value="448270"/>
<display value="Ectopia cordis"/>
</concept>
<concept>
<code value="44890"/>
<display value="Gastrointestinal stromal tumor"/>
</concept>
<concept>
<code value="449"/>
<display value="Hepatoblastoma"/>
</concept>
<concept>
<code value="449266"/>
<display value="Pleural empyema"/>
</concept>
<concept>
<code value="449280"/>
<display value="Scedosporiosis"/>
</concept>
<concept>
<code value="449285"/>
<display value="Snakebite envenomation"/>
</concept>
<concept>
<code value="449395"/>
<display value="IgG4-related kidney disease"/>
</concept>
<concept>
<code value="449400"/>
<display value="IgG4-related aortitis"/>
</concept>
<concept>
<code value="449427"/>
<display value="IgG4-related pachymeningitis"/>
</concept>
<concept>
<code value="449432"/>
<display value="IgG4-related submandibular gland disease"/>
</concept>
<concept>
<code value="449563"/>
<display value="IgG4-related ophthalmic disease"/>
</concept>
<concept>
<code value="449566"/>
<display value="Eosinophilic angiocentric fibrosis"/>
</concept>
<concept>
<code value="45"/>
<display value="Adenosine monophosphate deaminase deficiency"/>
</concept>
<concept>
<code value="450322"/>
<display value="Polyclonal hyperviscosity syndrome"/>
</concept>
<concept>
<code value="451602"/>
<display value="Primary cutaneous plasmacytosis"/>
</concept>
<concept>
<code value="451607"/>
<display value="Cutaneous pseudolymphoma"/>
</concept>
<concept>
<code value="451612"/>
<display value="Familial congenital nasolacrimal duct obstruction"/>
</concept>
<concept>
<code value="452"/>
<display value="X-linked lissencephaly with abnormal genitalia"/>
</concept>
<concept>
<code value="453499"/>
<display
value="Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="453504"/>
<display
value="Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"/>
</concept>
<concept>
<code value="453510"/>
<display
value="Congenital insensitivity to pain with severe intellectual disability"/>
</concept>
<concept>
<code value="453521"/>
<display
value="Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency"/>
</concept>
<concept>
<code value="453533"/>
<display value="Polyendocrine-polyneuropathy syndrome"/>
</concept>
<concept>
<code value="45358"/>
<display value="Congenital fibrosis of extraocular muscles"/>
</concept>
<concept>
<code value="454"/>
<display value="Acquired ichthyosis"/>
</concept>
<concept>
<code value="45448"/>
<display value="Miyoshi myopathy"/>
</concept>
<concept>
<code value="45452"/>
<display value="Idiopathic neonatal atrial flutter"/>
</concept>
<concept>
<code value="45453"/>
<display value="Incessant infant ventricular tachycardia"/>
</concept>
<concept>
<code value="454706"/>
<display value="Progressive muscular atrophy"/>
</concept>
<concept>
<code value="454710"/>
<display value="Anti-p200 pemphigoid"/>
</concept>
<concept>
<code value="454714"/>
<display value="Plasma cell leukemia"/>
</concept>
<concept>
<code value="454718"/>
<display value="Holmes-Adie syndrome"/>
</concept>
<concept>
<code value="454723"/>
<display value="Endometrioid carcinoma of ovary"/>
</concept>
<concept>
<code value="454742"/>
<display value="Variably protease-sensitive prionopathy"/>
</concept>
<concept>
<code value="454745"/>
<display value="Kuru"/>
</concept>
<concept>
<code value="454750"/>
<display value="Isolated tracheoesophageal fistula"/>
</concept>
<concept>
<code value="454831"/>
<display value="Acute radiation syndrome"/>
</concept>
<concept>
<code value="454836"/>
<display value="Avian influenza"/>
</concept>
<concept>
<code value="454840"/>
<display value="NTHL1-related polyposis"/>
</concept>
<concept>
<code value="454887"/>
<display value="Corticobasal syndrome"/>
</concept>
<concept>
<code value="455"/>
<display value="Superficial epidermolytic ichthyosis"/>
</concept>
<concept>
<code value="456298"/>
<display value="1p35.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="456312"/>
<display
value="Infantile multisystem neurologic-endocrine-pancreatic disease"/>
</concept>
<concept>
<code value="456318"/>
<display
value="Hereditary sensory neuropathy-deafness-dementia syndrome"/>
</concept>
<concept>
<code value="456328"/>
<display
value="X-linked myotubular myopathy-abnormal genitalia syndrome"/>
</concept>
<concept>
<code value="456333"/>
<display value="Hereditary neuroendocrine tumor of small intestine"/>
</concept>
<concept>
<code value="456369"/>
<display value="Polyglucosan body myopathy type 2"/>
</concept>
<concept>
<code value="457"/>
<display value="Harlequin ichthyosis"/>
</concept>
<concept>
<code value="457050"/>
<display
value="Autosomal dominant mitochondrial myopathy with exercise intolerance"/>
</concept>
<concept>
<code value="457077"/>
<display value="TAFRO syndrome"/>
</concept>
<concept>
<code value="457083"/>
<display value="Isolated splenogonadal fusion"/>
</concept>
<concept>
<code value="457088"/>
<display
value="Predisposition to invasive fungal disease due to CARD9 deficiency"/>
</concept>
<concept>
<code value="457095"/>
<display value="Actinomycosis"/>
</concept>
<concept>
<code value="457185"/>
<display
value="Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"/>
</concept>
<concept>
<code value="457193"/>
<display
value="KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome"/>
</concept>
<concept>
<code value="457205"/>
<display
value="Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome"/>
</concept>
<concept>
<code value="457212"/>
<display
value="Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"/>
</concept>
<concept>
<code value="457223"/>
<display
value="Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"/>
</concept>
<concept>
<code value="457240"/>
<display
value="X-linked intellectual disability-short stature-overweight syndrome"/>
</concept>
<concept>
<code value="457246"/>
<display value="Clear cell sarcoma of kidney"/>
</concept>
<concept>
<code value="457260"/>
<display
value="X-linked intellectual disability-hypotonia-movement disorder syndrome"/>
</concept>
<concept>
<code value="457265"/>
<display value="Progressive myoclonic epilepsy type 9"/>
</concept>
<concept>
<code value="457279"/>
<display
value="Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"/>
</concept>
<concept>
<code value="457284"/>
<display
value="Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="457351"/>
<display
value="Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"/>
</concept>
<concept>
<code value="457359"/>
<display
value="Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"/>
</concept>
<concept>
<code value="457365"/>
<display
value="Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="457375"/>
<display
value="ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement"/>
</concept>
<concept>
<code value="457378"/>
<display value="Complex lethal osteochondrodysplasia"/>
</concept>
<concept>
<code value="457395"/>
<display
value="Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"/>
</concept>
<concept>
<code value="457406"/>
<display value="Multiple mitochondrial dysfunctions syndrome type 4"/>
</concept>
<concept>
<code value="457485"/>
<display
value="Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"/>
</concept>
<concept>
<code value="458718"/>
<display value="Idiopathic spontaneous coronary artery dissection"/>
</concept>
<concept>
<code value="458758"/>
<display value="Composite hemangioendothelioma"/>
</concept>
<concept>
<code value="458763"/>
<display value="Retiform hemangioendothelioma"/>
</concept>
<concept>
<code value="458768"/>
<display value="Papillary intralymphatic angioendothelioma"/>
</concept>
<concept>
<code value="458785"/>
<display value="Partially involuting congenital hemangioma"/>
</concept>
<concept>
<code value="458792"/>
<display value="Mixed cystic lymphatic malformation"/>
</concept>
<concept>
<code value="458798"/>
<display value="Spinocerebellar ataxia type 41"/>
</concept>
<concept>
<code value="458803"/>
<display value="Spinocerebellar ataxia type 42"/>
</concept>
<concept>
<code value="459033"/>
<display value="Ataxia-oculomotor apraxia type 4"/>
</concept>
<concept>
<code value="459051"/>
<display value="Spondyloepiphyseal dysplasia, Stanescu type"/>
</concept>
<concept>
<code value="459056"/>
<display value="Autosomal recessive spastic paraplegia type 75"/>
</concept>
<concept>
<code value="459061"/>
<display
value="Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"/>
</concept>
<concept>
<code value="459070"/>
<display
value="X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"/>
</concept>
<concept>
<code value="459074"/>
<display
value="Corpus callosum agenesis-macrocephaly-hypertelorism syndrome"/>
</concept>
<concept>
<code value="46"/>
<display value="Adenylosuccinate lyase deficiency"/>
</concept>
<concept>
<code value="46059"/>
<display value="Lathosterolosis"/>
</concept>
<concept>
<code value="461"/>
<display value="Recessive X-linked ichthyosis"/>
</concept>
<concept>
<code value="46135"/>
<display value="Primary central nervous system lymphoma"/>
</concept>
<concept>
<code value="46348"/>
<display value="Paroxysmal extreme pain disorder"/>
</concept>
<concept>
<code value="464"/>
<display value="Incontinentia pigmenti"/>
</concept>
<concept>
<code value="464282"/>
<display
value="Spastic paraplegia-severe developmental delay-epilepsy syndrome"/>
</concept>
<concept>
<code value="464288"/>
<display
value="Short stature-brachydactyly-obesity-global developmental delay syndrome"/>
</concept>
<concept>
<code value="464306"/>
<display value="DYRK1A-related intellectual disability syndrome"/>
</concept>
<concept>
<code value="464311"/>
<display
value="Intellectual disability syndrome due to a DYRK1A point mutation"/>
</concept>
<concept>
<code value="464318"/>
<display value="Verrucous hemangioma"/>
</concept>
<concept>
<code value="464321"/>
<display
value="Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome"/>
</concept>
<concept>
<code value="464329"/>
<display value="Kaposiform lymphangiomatosis"/>
</concept>
<concept>
<code value="464336"/>
<display value="BENTA disease"/>
</concept>
<concept>
<code value="464343"/>
<display value="Catastrophic antiphospholipid syndrome"/>
</concept>
<concept>
<code value="464359"/>
<display value="Benign metanephric tumor"/>
</concept>
<concept>
<code value="464366"/>
<display value="NEK9-related lethal skeletal dysplasia"/>
</concept>
<concept>
<code value="464370"/>
<display value="Neonatal alloimmune neutropenia"/>
</concept>
<concept>
<code value="464440"/>
<display value="Primary dystonia, DYT27 type"/>
</concept>
<concept>
<code value="464443"/>
<display value="COG6-CGD"/>
</concept>
<concept>
<code value="464453"/>
<display value="Acquired methemoglobinemia"/>
</concept>
<concept>
<code value="464458"/>
<display value="Paracetamol poisoning"/>
</concept>
<concept>
<code value="464724"/>
<display
value="Fever-associated acute infantile liver failure syndrome"/>
</concept>
<concept>
<code value="464738"/>
<display value="Basel-Vanagaite-Smirin-Yosef syndrome"/>
</concept>
<concept>
<code value="464756"/>
<display value="Familial gastric type 1 neuroendocrine tumor"/>
</concept>
<concept>
<code value="464760"/>
<display value="Familial cavitary optic disc anomaly"/>
</concept>
<concept>
<code value="46486"/>
<display value="Mucous membrane pemphigoid"/>
</concept>
<concept>
<code value="46487"/>
<display value="Epidermolysis bullosa acquisita"/>
</concept>
<concept>
<code value="46488"/>
<display value="Linear IgA dermatosis"/>
</concept>
<concept>
<code value="465"/>
<display
value="Congenital plasminogen activator inhibitor type 1 deficiency"/>
</concept>
<concept>
<code value="46532"/>
<display
value="Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"/>
</concept>
<concept>
<code value="465508"/>
<display value="Symptomatic form of HFE-related hemochromatosis"/>
</concept>
<concept>
<code value="465824"/>
<display value="Fetal encasement syndrome"/>
</concept>
<concept>
<code value="466"/>
<display value="Fatal familial insomnia"/>
</concept>
<concept>
<code value="466026"/>
<display
value="Class I glucose-6-phosphate dehydrogenase deficiency"/>
</concept>
<concept>
<code value="46627"/>
<display value="Char syndrome"/>
</concept>
<concept>
<code value="466650"/>
<display value="Exercise-induced malignant hyperthermia"/>
</concept>
<concept>
<code value="466670"/>
<display value="Cyanide poisoning"/>
</concept>
<concept>
<code value="466677"/>
<display value="Scorpion envenomation"/>
</concept>
<concept>
<code value="466682"/>
<display value="Euthyroid Graves orbitopathy"/>
</concept>
<concept>
<code value="466688"/>
<display
value="Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"/>
</concept>
<concept>
<code value="466695"/>
<display value="Supratip dysplasia"/>
</concept>
<concept>
<code value="466703"/>
<display value="TMEM199-CDG"/>
</concept>
<concept>
<code value="466718"/>
<display value="Martinique crinkled retinal pigment epitheliopathy"/>
</concept>
<concept>
<code value="466722"/>
<display value="Autosomal recessive spastic paraplegia type 77"/>
</concept>
<concept>
<code value="466729"/>
<display value="Familial patent arterial duct"/>
</concept>
<concept>
<code value="466768"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2Z"/>
</concept>
<concept>
<code value="466775"/>
<display
value="Autosomal recessive Charcot-Marie-Tooth disease type 2X"/>
</concept>
<concept>
<code value="466784"/>
<display
value="Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"/>
</concept>
<concept>
<code value="466791"/>
<display
value="Macrocephaly-intellectual disability-left ventricular non compaction syndrome"/>
</concept>
<concept>
<code value="466794"/>
<display
value="Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"/>
</concept>
<concept>
<code value="466806"/>
<display
value="Autosomal dominant thrombocytopenia with platelet secretion defect"/>
</concept>
<concept>
<code value="466921"/>
<display
value="Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"/>
</concept>
<concept>
<code value="466926"/>
<display value="Seizures-scoliosis-macrocephaly syndrome"/>
</concept>
<concept>
<code value="466934"/>
<display
value="VPS11-related autosomal recessive hypomyelinating leukodystrophy"/>
</concept>
<concept>
<code value="466943"/>
<display
value="WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"/>
</concept>
<concept>
<code value="466950"/>
<display
value="Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"/>
</concept>
<concept>
<code value="466962"/>
<display value="SMARCA4-deficient sarcoma of thorax"/>
</concept>
<concept>
<code value="467166"/>
<display value="Tubulinopathy-associated dysgyria"/>
</concept>
<concept>
<code value="467176"/>
<display
value="Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"/>
</concept>
<concept>
<code value="46724"/>
<display value="Cerebral arteriovenous malformation"/>
</concept>
<concept>
<code value="468620"/>
<display
value="Intellectual disability-epilepsy-extrapyramidal syndrome"/>
</concept>
<concept>
<code value="468631"/>
<display
value="Microcephalic cortical malformations-short stature due to RTTN deficiency"/>
</concept>
<concept>
<code value="468635"/>
<display value="Cryptogenic multifocal ulcerous stenosing enteritis"/>
</concept>
<concept>
<code value="468641"/>
<display value="Chronic enteropathy associated with SLCO2A1 gene"/>
</concept>
<concept>
<code value="468661"/>
<display value="Autosomal recessive spastic paraplegia type 74"/>
</concept>
<concept>
<code value="468666"/>
<display
value="Isolated generalized anhidrosis with normal sweat glands"/>
</concept>
<concept>
<code value="468672"/>
<display value="Colobomatous macrophthalmia-microcornea syndrome"/>
</concept>
<concept>
<code value="468678"/>
<display value="White-Sutton syndrome"/>
</concept>
<concept>
<code value="468684"/>
<display value="CCDC115-CDG"/>
</concept>
<concept>
<code value="468699"/>
<display value="SLC39A8-CDG"/>
</concept>
<concept>
<code value="468717"/>
<display value="Rhizomelic chondrodysplasia punctata type 5"/>
</concept>
<concept>
<code value="468726"/>
<display value="Severe primary trimethylaminuria"/>
</concept>
<concept>
<code value="469"/>
<display value="Hereditary fructose intolerance"/>
</concept>
<concept>
<code value="47"/>
<display value="X-linked agammaglobulinemia"/>
</concept>
<concept>
<code value="470"/>
<display value="Lysinuric protein intolerance"/>
</concept>
<concept>
<code value="47044"/>
<display value="Hereditary papillary renal cell carcinoma"/>
</concept>
<concept>
<code value="47045"/>
<display value="Familial cold urticaria"/>
</concept>
<concept>
<code value="47159"/>
<display value="Proximal renal tubular acidosis"/>
</concept>
<concept>
<code value="472"/>
<display value="Isosporiasis"/>
</concept>
<concept>
<code value="474"/>
<display value="Jeune syndrome"/>
</concept>
<concept>
<code value="475"/>
<display value="Isolated Joubert syndrome"/>
</concept>
<concept>
<code value="476084"/>
<display value="BVES-related limb-girdle muscular dystrophy"/>
</concept>
<concept>
<code value="476093"/>
<display
value="Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"/>
</concept>
<concept>
<code value="476096"/>
<display value="Erythrokeratodermia-cardiomyopathy syndrome"/>
</concept>
<concept>
<code value="476113"/>
<display value="Combined immunodeficiency due to TFRC deficiency"/>
</concept>
<concept>
<code value="476119"/>
<display
value="Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"/>
</concept>
<concept>
<code value="47612"/>
<display value="Felty syndrome"/>
</concept>
<concept>
<code value="476126"/>
<display
value="Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"/>
</concept>
<concept>
<code value="476394"/>
<display value="PMP2-related Charcot-Marie-Tooth disease type 1"/>
</concept>
<concept>
<code value="476406"/>
<display
value="Congenital generalized hypercontractile muscle stiffness syndrome"/>
</concept>
<concept>
<code value="477"/>
<display value="KID syndrome"/>
</concept>
<concept>
<code value="477650"/>
<display value="Fibroblastic rheumatism"/>
</concept>
<concept>
<code value="477661"/>
<display value="IL21-related infantile inflammatory bowel disease"/>
</concept>
<concept>
<code value="477673"/>
<display
value="Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"/>
</concept>
<concept>
<code value="477684"/>
<display value="Combined oxidative phosphorylation defect type 26"/>
</concept>
<concept>
<code value="477738"/>
<display value="Pediatric multiple sclerosis"/>
</concept>
<concept>
<code value="477742"/>
<display value="Nodular fasciitis"/>
</concept>
<concept>
<code value="477749"/>
<display
value="Pontine autosomal dominant microangiopathy with leukoencephalopathy"/>
</concept>
<concept>
<code value="477774"/>
<display value="Combined oxidative phosphorylation defect type 27"/>
</concept>
<concept>
<code value="477781"/>
<display value="Primary condylar hyperplasia"/>
</concept>
<concept>
<code value="477787"/>
<display
value="Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"/>
</concept>
<concept>
<code value="477814"/>
<display
value="Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"/>
</concept>
<concept>
<code value="477817"/>
<display value="PMP22-RAI1 contiguous gene duplication syndrome"/>
</concept>
<concept>
<code value="477831"/>
<display value="Kosaki overgrowth syndrome"/>
</concept>
<concept>
<code value="477857"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"/>
</concept>
<concept>
<code value="477993"/>
<display
value="Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"/>
</concept>
<concept>
<code value="478"/>
<display value="Kallmann syndrome"/>
</concept>
<concept>
<code value="478029"/>
<display value="Combined oxidative phosphorylation defect type 29"/>
</concept>
<concept>
<code value="478042"/>
<display value="Combined oxidative phosphorylation defect type 30"/>
</concept>
<concept>
<code value="478049"/>
<display
value="Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"/>
</concept>
<concept>
<code value="478664"/>
<display value="Hereditary sensory and autonomic neuropathy type 8"/>
</concept>
<concept>
<code value="48"/>
<display value="Congenital bilateral absence of vas deferens"/>
</concept>
<concept>
<code value="480"/>
<display value="Kearns-Sayre syndrome"/>
</concept>
<concept>
<code value="480476"/>
<display
value="Progressive familial intrahepatic cholestasis type 5"/>
</concept>
<concept>
<code value="480483"/>
<display
value="Progressive familial intrahepatic cholestasis type 4"/>
</concept>
<concept>
<code value="480491"/>
<display
value="MYO5B-related progressive familial intrahepatic cholestasis"/>
</concept>
<concept>
<code value="480501"/>
<display value="Choledochal cyst"/>
</concept>
<concept>
<code value="480506"/>
<display value="Primary intrahepatic lithiasis"/>
</concept>
<concept>
<code value="480512"/>
<display value="Idiopathic ductopenia"/>
</concept>
<concept>
<code value="480520"/>
<display value="Caroli syndrome"/>
</concept>
<concept>
<code value="480524"/>
<display value="Idiopathic peliosis hepatis"/>
</concept>
<concept>
<code value="480528"/>
<display
value="Lethal hydranencephaly-diaphragmatic hernia syndrome"/>
</concept>
<concept>
<code value="480531"/>
<display value="Congenital portosystemic shunt"/>
</concept>
<concept>
<code value="480536"/>
<display value="MSH3-related polyposis"/>
</concept>
<concept>
<code value="480541"/>
<display
value="High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"/>
</concept>
<concept>
<code value="480553"/>
<display value="Aneurysmal bone cyst"/>
</concept>
<concept>
<code value="480556"/>
<display value="Isolated neonatal sclerosing cholangitis"/>
</concept>
<concept>
<code value="480682"/>
<display value="POGLUT1-related limb-girdle muscular dystrophy R21"/>
</concept>
<concept>
<code value="480701"/>
<display value="Facial diplegia with paresthesias"/>
</concept>
<concept>
<code value="480851"/>
<display
value="Hereditary thrombocytopenia with early-onset myelofibrosis"/>
</concept>
<concept>
<code value="480864"/>
<display
value="Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="480880"/>
<display
value="X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"/>
</concept>
<concept>
<code value="480898"/>
<display
value="Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"/>
</concept>
<concept>
<code value="480907"/>
<display
value="X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"/>
</concept>
<concept>
<code value="481"/>
<display value="Kennedy disease"/>
</concept>
<concept>
<code value="48104"/>
<display value="Pyoderma gangrenosum"/>
</concept>
<concept>
<code value="481152"/>
<display
value="PYCR2-related microcephaly-progressive leukoencephalopathy"/>
</concept>
<concept>
<code value="48162"/>
<display value="Lewis-Sumner syndrome"/>
</concept>
<concept>
<code value="481662"/>
<display value="Familial Chilblain lupus"/>
</concept>
<concept>
<code value="481665"/>
<display value="USP18 deficiency"/>
</concept>
<concept>
<code value="481986"/>
<display value="Familial schizencephaly"/>
</concept>
<concept>
<code value="482"/>
<display value="Kimura disease"/>
</concept>
<concept>
<code value="482077"/>
<display
value="HTRA1-related autosomal dominant cerebral small vessel disease"/>
</concept>
<concept>
<code value="482601"/>
<display
value="Adenylosuccinate synthetase-like 1-related distal myopathy"/>
</concept>
<concept>
<code value="482606"/>
<display
value="X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"/>
</concept>
<concept>
<code value="483"/>
<display
value="Congenital high-molecular-weight kininogen deficiency"/>
</concept>
<concept>
<code value="48372"/>
<display value="Nodular regenerative hyperplasia of the liver"/>
</concept>
<concept>
<code value="48377"/>
<display value="Subcorneal pustular dermatosis"/>
</concept>
<concept>
<code value="48431"/>
<display
value="Congenital cataracts-facial dysmorphism-neuropathy syndrome"/>
</concept>
<concept>
<code value="48435"/>
<display value="Postinfectious vasculitis"/>
</concept>
<concept>
<code value="485"/>
<display value="Kniest dysplasia"/>
</concept>
<concept>
<code value="485275"/>
<display value="Acquired schizencephaly"/>
</concept>
<concept>
<code value="485350"/>
<display
value="CLCN4-related X-linked intellectual disability syndrome"/>
</concept>
<concept>
<code value="485358"/>
<display value="Propylthiouracil embryofetopathy"/>
</concept>
<concept>
<code value="485405"/>
<display value="16p12.1p12.3 triplication syndrome"/>
</concept>
<concept>
<code value="485418"/>
<display value="EMILIN-1-related connective tissue disease"/>
</concept>
<concept>
<code value="485421"/>
<display
value="MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"/>
</concept>
<concept>
<code value="485426"/>
<display value="Isolated congenital hepatic fibrosis"/>
</concept>
<concept>
<code value="486"/>
<display value="Autosomal dominant severe congenital neutropenia"/>
</concept>
<concept>
<code value="48652"/>
<display value="Phelan-McDermid syndrome"/>
</concept>
<concept>
<code value="486811"/>
<display
value="Prenatal-onset spinal muscular atrophy with congenital bone fractures"/>
</concept>
<concept>
<code value="486815"/>
<display
value="Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"/>
</concept>
<concept>
<code value="48686"/>
<display value="Primary effusion lymphoma"/>
</concept>
<concept>
<code value="487"/>
<display value="Krabbe disease"/>
</concept>
<concept>
<code value="48736"/>
<display value="Embryonal carcinoma of the central nervous system"/>
</concept>
<concept>
<code value="487796"/>
<display value="Takenouchi-Kosaki syndrome"/>
</concept>
<concept>
<code value="487809"/>
<display value="Pediatric collagenous gastritis"/>
</concept>
<concept>
<code value="487814"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation"/>
</concept>
<concept>
<code value="487825"/>
<display value="Pierpont syndrome"/>
</concept>
<concept>
<code value="488"/>
<display value="Urachal cyst"/>
</concept>
<concept>
<code value="488168"/>
<display
value="Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"/>
</concept>
<concept>
<code value="48818"/>
<display value="Aceruloplasminemia"/>
</concept>
<concept>
<code value="488191"/>
<display value="Female infertility due to oocyte meiotic arrest"/>
</concept>
<concept>
<code value="488197"/>
<display
value="Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"/>
</concept>
<concept>
<code value="488232"/>
<display
value="Split-foot malformation-mesoaxial polydactyly syndrome"/>
</concept>
<concept>
<code value="488239"/>
<display value="Acute macular neuroretinopathy"/>
</concept>
<concept>
<code value="488265"/>
<display value="Osteofibrous dysplasia"/>
</concept>
<concept>
<code value="488280"/>
<display value="14q32 duplication syndrome"/>
</concept>
<concept>
<code value="488333"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2W"/>
</concept>
<concept>
<code value="488434"/>
<display value="Camptodactyly syndrome, Guadalajara type 3"/>
</concept>
<concept>
<code value="488437"/>
<display value="SIX2-related frontonasal dysplasia"/>
</concept>
<concept>
<code value="488586"/>
<display value="Congenital amyoplasia"/>
</concept>
<concept>
<code value="488594"/>
<display value="Autosomal recessive spastic paraplegia type 76"/>
</concept>
<concept>
<code value="488613"/>
<display
value="Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"/>
</concept>
<concept>
<code value="488618"/>
<display value="Transketolase deficiency"/>
</concept>
<concept>
<code value="488627"/>
<display
value="Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"/>
</concept>
<concept>
<code value="488632"/>
<display
value="TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome"/>
</concept>
<concept>
<code value="488635"/>
<display
value="Early-onset epilepsy-intellectual disability-brain anomalies syndrome"/>
</concept>
<concept>
<code value="488642"/>
<display
value="TELO2-related intellectual disability-neurodevelopmental disorder"/>
</concept>
<concept>
<code value="488647"/>
<display
value="DDX41-related hematologic malignancy predisposition syndrome"/>
</concept>
<concept>
<code value="488650"/>
<display value="Distal myopathy, Tateyama type"/>
</concept>
<concept>
<code value="48918"/>
<display value="Focal myositis"/>
</concept>
<concept>
<code value="49"/>
<display value="Penile agenesis"/>
</concept>
<concept>
<code value="490"/>
<display value="Omphalomesenteric cyst"/>
</concept>
<concept>
<code value="49041"/>
<display value="IgG4-related retroperitoneal fibrosis"/>
</concept>
<concept>
<code value="49042"/>
<display value="Dentinogenesis imperfecta"/>
</concept>
<concept>
<code value="492"/>
<display value="Proliferating trichilemmal cyst"/>
</concept>
<concept>
<code value="493"/>
<display value="Familial keratoacanthoma"/>
</concept>
<concept>
<code value="493342"/>
<display value="Vibratory urticaria"/>
</concept>
<concept>
<code value="49382"/>
<display value="Achromatopsia"/>
</concept>
<concept>
<code value="494"/>
<display value="Keratoderma hereditarium mutilans"/>
</concept>
<concept>
<code value="494344"/>
<display value="RERE-related neurodevelopmental syndrome"/>
</concept>
<concept>
<code value="494418"/>
<display value="Vulvar carcinoma"/>
</concept>
<concept>
<code value="494421"/>
<display value="Sacrococcygeal teratoma"/>
</concept>
<concept>
<code value="494424"/>
<display value="Extracranial carotid artery aneurysm"/>
</concept>
<concept>
<code value="494428"/>
<display value="Idiopathic pleuroparenchymal fibroelastosis"/>
</concept>
<concept>
<code value="494433"/>
<display value="MIRAGE syndrome"/>
</concept>
<concept>
<code value="494439"/>
<display
value="Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="494444"/>
<display
value="DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"/>
</concept>
<concept>
<code value="494448"/>
<display value="Vulvar squamous cell carcinoma"/>
</concept>
<concept>
<code value="494451"/>
<display value="Vulvar basal cell carcinoma"/>
</concept>
<concept>
<code value="494454"/>
<display value="Vulvar adenocarcinoma"/>
</concept>
<concept>
<code value="494526"/>
<display
value="Infantile-onset generalized dyskinesia with orofacial involvement"/>
</concept>
<concept>
<code value="494541"/>
<display
value="Childhood-onset benign chorea with striatal involvement"/>
</concept>
<concept>
<code value="494547"/>
<display value="Squamous cell carcinoma of the hypopharynx"/>
</concept>
<concept>
<code value="494550"/>
<display value="Squamous cell carcinoma of the larynx"/>
</concept>
<concept>
<code value="495"/>
<display
value="Transgrediens et progrediens palmoplantar keratoderma"/>
</concept>
<concept>
<code value="495274"/>
<display value="Charcot-Marie-Tooth disease type 2T"/>
</concept>
<concept>
<code value="49566"/>
<display value="Acquired purpura fulminans"/>
</concept>
<concept>
<code value="495818"/>
<display value="9q33.3q34.11 microdeletion syndrome"/>
</concept>
<concept>
<code value="495844"/>
<display
value="C11ORF73-related autosomal recessive hypomyelinating leukodystrophy"/>
</concept>
<concept>
<code value="495875"/>
<display
value="Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="495879"/>
<display value="Congenital agenesis of the scrotum"/>
</concept>
<concept>
<code value="495930"/>
<display value="Familial monosomy 7 syndrome"/>
</concept>
<concept>
<code value="496641"/>
<display
value="Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"/>
</concept>
<concept>
<code value="496686"/>
<display
value="Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"/>
</concept>
<concept>
<code value="496689"/>
<display
value="Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"/>
</concept>
<concept>
<code value="496693"/>
<display
value="Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome"/>
</concept>
<concept>
<code value="496751"/>
<display value="EVEN-plus syndrome"/>
</concept>
<concept>
<code value="496756"/>
<display
value="Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"/>
</concept>
<concept>
<code value="496790"/>
<display
value="Ocular anomalies-axonal neuropathy-developmental delay syndrome"/>
</concept>
<concept>
<code value="497188"/>
<display value="Diffuse intrinsic pontine glioma"/>
</concept>
<concept>
<code value="497737"/>
<display value="Epidermolytic nevus"/>
</concept>
<concept>
<code value="497757"/>
<display
value="MME-related autosomal dominant Charcot Marie Tooth disease type 2"/>
</concept>
<concept>
<code value="497764"/>
<display value="Spinocerebellar ataxia type 43"/>
</concept>
<concept>
<code value="497906"/>
<display value="Childhood-onset basal ganglia degeneration syndrome"/>
</concept>
<concept>
<code value="49804"/>
<display value="Lichen amyloidosis"/>
</concept>
<concept>
<code value="498228"/>
<display value="Phyllodes tumor of the prostate"/>
</concept>
<concept>
<code value="498251"/>
<display value="Menstrual cycle-dependent periodic fever"/>
</concept>
<concept>
<code value="49827"/>
<display value="Thiamine-responsive megaloblastic anemia syndrome"/>
</concept>
<concept>
<code value="498359"/>
<display value="Aquagenic palmoplantar keratoderma"/>
</concept>
<concept>
<code value="498474"/>
<display value="Hyaline fibromatosis syndrome"/>
</concept>
<concept>
<code value="498481"/>
<display value="LRP5-related primary osteoporosis"/>
</concept>
<concept>
<code value="498485"/>
<display
value="Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"/>
</concept>
<concept>
<code value="498488"/>
<display value="Overgrowth syndrome with 2q37 translocation"/>
</concept>
<concept>
<code value="498494"/>
<display value="Mirror-image polydactyly"/>
</concept>
<concept>
<code value="498497"/>
<display value="Short rib-polydactyly syndrome type 5"/>
</concept>
<concept>
<code value="498602"/>
<display value="Sugarman brachydactyly"/>
</concept>
<concept>
<code value="498693"/>
<display
value="MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"/>
</concept>
<concept>
<code value="499"/>
<display value="Kerion celsi"/>
</concept>
<concept>
<code value="499009"/>
<display value="Congenital syphilis"/>
</concept>
<concept>
<code value="499085"/>
<display value="Chronic relapsing inflammatory optic neuritis"/>
</concept>
<concept>
<code value="499096"/>
<display value="Isolated optic neuritis"/>
</concept>
<concept>
<code value="499103"/>
<display value="Recurrent idiopathic neuroretinitis"/>
</concept>
<concept>
<code value="499107"/>
<display value="Idiopathic optic perineuritis"/>
</concept>
<concept>
<code value="499182"/>
<display value="Pilomatrix carcinoma"/>
</concept>
<concept>
<code value="5"/>
<display
value="Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="50"/>
<display value="Aicardi syndrome"/>
</concept>
<concept>
<code value="500"/>
<display value="Noonan syndrome with multiple lentigines"/>
</concept>
<concept>
<code value="500055"/>
<display value="Hao-Fountain syndrome due to 16p13.2 microdeletion"/>
</concept>
<concept>
<code value="500062"/>
<display
value="Infantile-onset periodic fever-panniculitis-dermatosis syndrome"/>
</concept>
<concept>
<code value="500095"/>
<display
value="Tall stature-intellectual disability-renal anomalies syndrome"/>
</concept>
<concept>
<code value="500135"/>
<display
value="Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"/>
</concept>
<concept>
<code value="500144"/>
<display
value="Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"/>
</concept>
<concept>
<code value="500150"/>
<display
value="Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="500159"/>
<display
value="Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"/>
</concept>
<concept>
<code value="500163"/>
<display value="Witteveen-Kolk syndrome"/>
</concept>
<concept>
<code value="500166"/>
<display
value="SIN3-related intellectual disability syndrome due to a point mutation"/>
</concept>
<concept>
<code value="500180"/>
<display
value="Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"/>
</concept>
<concept>
<code value="500188"/>
<display
value="X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="500464"/>
<display
value="Squamous cell carcinoma of the nasal cavity and paranasal sinuses"/>
</concept>
<concept>
<code value="500478"/>
<display value="Squamous cell carcinoma of the oropharynx"/>
</concept>
<concept>
<code value="500533"/>
<display
value="Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"/>
</concept>
<concept>
<code value="500545"/>
<display
value="Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"/>
</concept>
<concept>
<code value="500548"/>
<display value="Osteosclerotic metaphyseal dysplasia"/>
</concept>
<concept>
<code value="501"/>
<display value="Lafora disease"/>
</concept>
<concept>
<code value="502"/>
<display value="Trichorhinophalangeal syndrome type 2"/>
</concept>
<concept>
<code value="502305"/>
<display value="Cochleovestibular malformation"/>
</concept>
<concept>
<code value="502318"/>
<display value="Cochlear nerve deficiency"/>
</concept>
<concept>
<code value="502363"/>
<display value="Squamous cell carcinoma of the oral cavity"/>
</concept>
<concept>
<code value="502366"/>
<display value="Squamous cell carcinoma of the lip"/>
</concept>
<concept>
<code value="502423"/>
<display
value="Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"/>
</concept>
<concept>
<code value="502430"/>
<display value="Weiss-Kruszka Syndrome"/>
</concept>
<concept>
<code value="502434"/>
<display
value="STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome"/>
</concept>
<concept>
<code value="502437"/>
<display value="4q25 proximal deletion syndrome"/>
</concept>
<concept>
<code value="502444"/>
<display value="Alkaline ceramidase 3 deficiency"/>
</concept>
<concept>
<code value="502499"/>
<display value="Erythema multiforme major"/>
</concept>
<concept>
<code value="50251"/>
<display value="Pleural mesothelioma"/>
</concept>
<concept>
<code value="503"/>
<display value="Larsen syndrome"/>
</concept>
<concept>
<code value="504"/>
<display value="Creeping myiasis"/>
</concept>
<concept>
<code value="504476"/>
<display
value="Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"/>
</concept>
<concept>
<code value="504523"/>
<display
value="Severe combined immunodeficiency due to LAT deficiency"/>
</concept>
<concept>
<code value="504530"/>
<display value="Combined immunodeficiency due to Moesin deficiency"/>
</concept>
<concept>
<code value="505"/>
<display value="Graham Little-Piccardi-Lassueur syndrome"/>
</concept>
<concept>
<code value="505208"/>
<display value="3-methylglutaconic aciduria type 8"/>
</concept>
<concept>
<code value="505216"/>
<display value="3-methylglutaconic aciduria type 9"/>
</concept>
<concept>
<code value="505227"/>
<display value="Combined immunodeficiency due to GINS1 deficiency"/>
</concept>
<concept>
<code value="505237"/>
<display
value="Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome"/>
</concept>
<concept>
<code value="505242"/>
<display
value="Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"/>
</concept>
<concept>
<code value="505248"/>
<display
value="Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders"/>
</concept>
<concept>
<code value="505395"/>
<display value="Ventilator-induced diaphragmatic dysfunction"/>
</concept>
<concept>
<code value="505652"/>
<display value="CDKL5-deficiency disorder"/>
</concept>
<concept>
<code value="506"/>
<display value="Leigh syndrome"/>
</concept>
<concept>
<code value="506075"/>
<display value="Non-functioning neuroendocrine tumor of pancreas"/>
</concept>
<concept>
<code value="506090"/>
<display
value="Serotonin-producing neuroendocrine tumor of pancreas"/>
</concept>
<concept>
<code value="506098"/>
<display value="Neuroendocrine carcinoma of pancreas"/>
</concept>
<concept>
<code value="506112"/>
<display
value="Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas"/>
</concept>
<concept>
<code value="506136"/>
<display value="Neuroendocrine neoplasm of esophagus"/>
</concept>
<concept>
<code value="506307"/>
<display value="Stromme syndrome"/>
</concept>
<concept>
<code value="506334"/>
<display
value="Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"/>
</concept>
<concept>
<code value="506353"/>
<display
value="Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"/>
</concept>
<concept>
<code value="506358"/>
<display value="Gabriele-de Vries syndrome"/>
</concept>
<concept>
<code value="506784"/>
<display
value="Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome"/>
</concept>
<concept>
<code value="507"/>
<display value="Leishmaniasis"/>
</concept>
<concept>
<code value="508"/>
<display value="Donohue syndrome"/>
</concept>
<concept>
<code value="50809"/>
<display value="Talo-patello-scaphoid osteolysis"/>
</concept>
<concept>
<code value="508093"/>
<display value="MEPAN syndrome"/>
</concept>
<concept>
<code value="50810"/>
<display value="Microlissencephaly-micromelia syndrome"/>
</concept>
<concept>
<code value="50811"/>
<display
value="Lipodystrophy-intellectual disability-deafness syndrome"/>
</concept>
<concept>
<code value="50812"/>
<display
value="Zellweger-like syndrome without peroxisomal anomalies"/>
</concept>
<concept>
<code value="50814"/>
<display value="Craniolenticulosutural dysplasia"/>
</concept>
<concept>
<code value="50815"/>
<display value="Branchiogenic deafness syndrome"/>
</concept>
<concept>
<code value="50839"/>
<display value="Cat-scratch disease"/>
</concept>
<concept>
<code value="508410"/>
<display value="Familial intestinal malrotation"/>
</concept>
<concept>
<code value="508476"/>
<display
value="Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"/>
</concept>
<concept>
<code value="508488"/>
<display value="8q24.3 microdeletion syndrome"/>
</concept>
<concept>
<code value="508498"/>
<display
value="Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"/>
</concept>
<concept>
<code value="508501"/>
<display
value="Oral-facial-digital syndrome with short stature and brachymesophalangy"/>
</concept>
<concept>
<code value="508512"/>
<display
value="Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"/>
</concept>
<concept>
<code value="508523"/>
<display value="Hyperphenylalaninemia due to DNAJC12 deficiency"/>
</concept>
<concept>
<code value="508529"/>
<display
value="Intermediate epidermolysis bullosa simplex with cardiomyopathy"/>
</concept>
<concept>
<code value="508533"/>
<display
value="Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"/>
</concept>
<concept>
<code value="508542"/>
<display
value="Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome"/>
</concept>
<concept>
<code value="509"/>
<display value="Leptospirosis"/>
</concept>
<concept>
<code value="50918"/>
<display value="Kikuchi-Fujimoto disease"/>
</concept>
<concept>
<code value="50942"/>
<display value="Striate palmoplantar keratoderma"/>
</concept>
<concept>
<code value="50943"/>
<display value="Keratolytic winter erythema"/>
</concept>
<concept>
<code value="50944"/>
<display value="Schöpf-Schulz-Passarge syndrome"/>
</concept>
<concept>
<code value="50945"/>
<display value="Blomstrand lethal chondrodysplasia"/>
</concept>
<concept>
<code value="51"/>
<display value="Aicardi-Goutières syndrome"/>
</concept>
<concept>
<code value="510"/>
<display value="Lesch-Nyhan syndrome"/>
</concept>
<concept>
<code value="51083"/>
<display value="Congenital short QT syndrome"/>
</concept>
<concept>
<code value="51084"/>
<display
value="Torsade-de-pointes syndrome with short coupling interval"/>
</concept>
<concept>
<code value="511"/>
<display value="Maple syrup urine disease"/>
</concept>
<concept>
<code value="51188"/>
<display value="Ethylmalonic encephalopathy"/>
</concept>
<concept>
<code value="512"/>
<display value="Metachromatic leukodystrophy"/>
</concept>
<concept>
<code value="512017"/>
<display
value="Chronic lymphoproliferative disorder of natural killer cells"/>
</concept>
<concept>
<code value="51208"/>
<display value="Formiminoglutamic aciduria"/>
</concept>
<concept>
<code value="512103"/>
<display value="Autosomal recessive epidermolytic ichthyosis"/>
</concept>
<concept>
<code value="512260"/>
<display value="Congenital cerebellar ataxia due to RNU12 mutation"/>
</concept>
<concept>
<code value="513436"/>
<display value="Autosomal recessive spastic paraplegia type 78"/>
</concept>
<concept>
<code value="513456"/>
<display
value="Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="514"/>
<display value="Acute monoblastic/monocytic leukemia"/>
</concept>
<concept>
<code value="514352"/>
<display
value="Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome"/>
</concept>
<concept>
<code value="51608"/>
<display value="Generalized arterial calcification of infancy"/>
</concept>
<concept>
<code value="51636"/>
<display value="WHIM syndrome"/>
</concept>
<concept>
<code value="517"/>
<display value="Acute myelomonocytic leukemia"/>
</concept>
<concept>
<code value="518"/>
<display value="Acute megakaryoblastic leukemia"/>
</concept>
<concept>
<code value="51890"/>
<display value="Anterior cutaneous nerve entrapment syndrome"/>
</concept>
<concept>
<code value="519384"/>
<display value="Congenital cystic eye"/>
</concept>
<concept>
<code value="519386"/>
<display value="Isolated congenital entropion"/>
</concept>
<concept>
<code value="519388"/>
<display value="Autosomal recessive anterior segment dysgenesis"/>
</concept>
<concept>
<code value="519390"/>
<display value="Isolated blepharochalasis"/>
</concept>
<concept>
<code value="519392"/>
<display value="Isolated iridoschisis"/>
</concept>
<concept>
<code value="519396"/>
<display value="Isolated microspherophakia"/>
</concept>
<concept>
<code value="519398"/>
<display value="Isolated foveal hypoplasia"/>
</concept>
<concept>
<code value="519400"/>
<display value="Peripapillary staphyloma"/>
</concept>
<concept>
<code value="519402"/>
<display value="Isolated megalopapilla"/>
</concept>
<concept>
<code value="519404"/>
<display value="Optic disc pit"/>
</concept>
<concept>
<code value="519406"/>
<display value="Thygeson superficial punctate keratitis"/>
</concept>
<concept>
<code value="519408"/>
<display value="Mooren ulcer"/>
</concept>
<concept>
<code value="519410"/>
<display value="Terrien marginal degeneration"/>
</concept>
<concept>
<code value="519930"/>
<display value="Fungal keratitis"/>
</concept>
<concept>
<code value="52"/>
<display value="Alagille syndrome"/>
</concept>
<concept>
<code value="520"/>
<display value="Acute promyelocytic leukemia"/>
</concept>
<concept>
<code value="52022"/>
<display value="Potocki-Shaffer syndrome"/>
</concept>
<concept>
<code value="52047"/>
<display value="Braddock syndrome"/>
</concept>
<concept>
<code value="52054"/>
<display
value="Craniosynostosis-intracranial calcifications syndrome"/>
</concept>
<concept>
<code value="52055"/>
<display
value="Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"/>
</concept>
<concept>
<code value="52056"/>
<display value="Ulnar/fibula ray defect-brachydactyly syndrome"/>
</concept>
<concept>
<code value="521"/>
<display value="Chronic myeloid leukemia"/>
</concept>
<concept>
<code value="521123"/>
<display value="Radiation-induced plexopathy"/>
</concept>
<concept>
<code value="521127"/>
<display value="Osteoradionecrosis of the mandible"/>
</concept>
<concept>
<code value="521219"/>
<display value="Mirizzi syndrome"/>
</concept>
<concept>
<code value="521258"/>
<display value="Xq25 microduplication syndrome"/>
</concept>
<concept>
<code value="521268"/>
<display
value="Sodium-dependent multivitamin transporter deficiency"/>
</concept>
<concept>
<code value="521305"/>
<display
value="Proximal myopathy with focal depletion of mitochondria"/>
</concept>
<concept>
<code value="521308"/>
<display
value="Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"/>
</concept>
<concept>
<code value="521390"/>
<display
value="Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome"/>
</concept>
<concept>
<code value="521406"/>
<display value="Dystonia-parkinsonism-hypermanganesemia syndrome"/>
</concept>
<concept>
<code value="521411"/>
<display
value="Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect"/>
</concept>
<concept>
<code value="521414"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2DD"/>
</concept>
<concept>
<code value="521426"/>
<display value="PLAA-associated neurodevelopmental disorder"/>
</concept>
<concept>
<code value="521432"/>
<display
value="Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"/>
</concept>
<concept>
<code value="521438"/>
<display
value="Congenital vertebral-cardiac-renal anomalies syndrome"/>
</concept>
<concept>
<code value="521445"/>
<display
value="Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"/>
</concept>
<concept>
<code value="521450"/>
<display value="LAMA5-related multisystemic syndrome"/>
</concept>
<concept>
<code value="522037"/>
<display value="Primary autoimmune enteropathy"/>
</concept>
<concept>
<code value="522077"/>
<display
value="Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"/>
</concept>
<concept>
<code value="523"/>
<display value="Hereditary leiomyomatosis and renal cell cancer"/>
</concept>
<concept>
<code value="52368"/>
<display value="Mohr-Tranebjaerg syndrome"/>
</concept>
<concept>
<code value="524"/>
<display value="Li-Fraumeni syndrome"/>
</concept>
<concept>
<code value="52416"/>
<display value="Mantle cell lymphoma"/>
</concept>
<concept>
<code value="52417"/>
<display value="MALT lymphoma"/>
</concept>
<concept>
<code value="52427"/>
<display value="Retinitis punctata albescens"/>
</concept>
<concept>
<code value="52429"/>
<display value="Branchiootic syndrome"/>
</concept>
<concept>
<code value="52430"/>
<display
value="Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"/>
</concept>
<concept>
<code value="525"/>
<display value="Lichen planopilaris"/>
</concept>
<concept>
<code value="52503"/>
<display value="X-linked creatine transporter deficiency"/>
</concept>
<concept>
<code value="52530"/>
<display value="Pseudo-von Willebrand disease"/>
</concept>
<concept>
<code value="525731"/>
<display value="Pediatric-onset Graves disease"/>
</concept>
<concept>
<code value="525738"/>
<display value="Prepubertal anorexia nervosa"/>
</concept>
<concept>
<code value="526"/>
<display value="Liddle syndrome"/>
</concept>
<concept>
<code value="527276"/>
<display
value="Encephalopathy due to mitochondrial and peroxisomal fission defect"/>
</concept>
<concept>
<code value="527450"/>
<display
value="Severe myopia-generalized joint laxity-short stature syndrome"/>
</concept>
<concept>
<code value="527468"/>
<display value="Diaphragmatic hernia-short bowel-asplenia syndrome"/>
</concept>
<concept>
<code value="527497"/>
<display
value="NKX6-2-related autosomal recessive hypomyelinating leukodystrophy"/>
</concept>
<concept>
<code value="528"/>
<display value="Congenital generalized lipodystrophy"/>
</concept>
<concept>
<code value="528084"/>
<display value="Non-specific syndromic intellectual disability"/>
</concept>
<concept>
<code value="528091"/>
<display
value="Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"/>
</concept>
<concept>
<code value="528105"/>
<display
value="Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"/>
</concept>
<concept>
<code value="528623"/>
<display value="Hereditary angioedema with C1Inh deficiency"/>
</concept>
<concept>
<code value="528647"/>
<display value="Hereditary angioedema with normal C1Inh"/>
</concept>
<concept>
<code value="528663"/>
<display value="Acquired angioedema with C1Inh deficiency"/>
</concept>
<concept>
<code value="529"/>
<display value="Roch-Leri mesosomatous lipomatosis"/>
</concept>
<concept>
<code value="52901"/>
<display value="Isolated follicle stimulating hormone deficiency"/>
</concept>
<concept>
<code value="529468"/>
<display value="Monoclonal mast cell activation syndrome"/>
</concept>
<concept>
<code value="529574"/>
<display value="Duane retraction syndrome with congenital deafness"/>
</concept>
<concept>
<code value="529665"/>
<display
value="Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome"/>
</concept>
<concept>
<code value="529799"/>
<display value="Acute bilirubin encephalopathy"/>
</concept>
<concept>
<code value="529808"/>
<display value="Chronic bilirubin encephalopathy"/>
</concept>
<concept>
<code value="529831"/>
<display value="Letrozole toxicity"/>
</concept>
<concept>
<code value="529852"/>
<display
value="Combined hepatocellular carcinoma and cholangiocarcinoma"/>
</concept>
<concept>
<code value="529864"/>
<display value="Secondary erythromelalgia"/>
</concept>
<concept>
<code value="52994"/>
<display value="Orbital leiomyoma"/>
</concept>
<concept>
<code value="529962"/>
<display value="17q24.2 microdeletion syndrome"/>
</concept>
<concept>
<code value="529965"/>
<display
value="Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome"/>
</concept>
<concept>
<code value="529970"/>
<display value="Male infertility due to acephalic spermatozoa"/>
</concept>
<concept>
<code value="529977"/>
<display
value="Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"/>
</concept>
<concept>
<code value="529980"/>
<display
value="Inflammatory bowel disease-recurrent sinopulmonary infections syndrome"/>
</concept>
<concept>
<code value="53"/>
<display value="Albers-Schönberg osteopetrosis"/>
</concept>
<concept>
<code value="530"/>
<display value="Lipoid proteinosis"/>
</concept>
<concept>
<code value="530033"/>
<display
value="Dermoid or epidermoid cyst of the central nervous system"/>
</concept>
<concept>
<code value="530298"/>
<display
value="Progressive myoclonic epilepsy with neuroserpin inclusion bodies"/>
</concept>
<concept>
<code value="530303"/>
<display
value="Progressive dementia with neuroserpin inclusion bodies"/>
</concept>
<concept>
<code value="53035"/>
<display value="Caroli disease"/>
</concept>
<concept>
<code value="530792"/>
<display value="RELA fusion-positive ependymoma"/>
</concept>
<concept>
<code value="530838"/>
<display value="KRT1-related diffuse nonepidermolytic keratoderma"/>
</concept>
<concept>
<code value="530849"/>
<display value="Familial apolipoprotein A5 deficiency"/>
</concept>
<concept>
<code value="530983"/>
<display value="Lamb-Shaffer syndrome"/>
</concept>
<concept>
<code value="530995"/>
<display value="Mixed phenotype acute leukemia"/>
</concept>
<concept>
<code value="531"/>
<display value="Miller-Dieker syndrome"/>
</concept>
<concept>
<code value="531151"/>
<display value="9q21.13 microdeletion syndrome"/>
</concept>
<concept>
<code value="53271"/>
<display value="Muenke syndrome"/>
</concept>
<concept>
<code value="53296"/>
<display value="Familial cutaneous collagenoma"/>
</concept>
<concept>
<code value="533"/>
<display value="Listeriosis"/>
</concept>
<concept>
<code value="53347"/>
<display value="Brody myopathy"/>
</concept>
<concept>
<code value="53351"/>
<display value="X-linked dystonia-parkinsonism"/>
</concept>
<concept>
<code value="53372"/>
<display value="Hereditary geniospasm"/>
</concept>
<concept>
<code value="534"/>
<display value="Oculocerebrorenal syndrome of Lowe"/>
</concept>
<concept>
<code value="53540"/>
<display value="Goldmann-Favre syndrome"/>
</concept>
<concept>
<code value="535453"/>
<display value="Familial lipase maturation factor 1 deficiency"/>
</concept>
<concept>
<code value="535458"/>
<display value="Familial GPIHBP1 deficiency"/>
</concept>
<concept>
<code value="53583"/>
<display
value="Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"/>
</concept>
<concept>
<code value="536"/>
<display value="Systemic lupus erythematosus"/>
</concept>
<concept>
<code value="536467"/>
<display
value="B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="536471"/>
<display value="Spondylodysplastic Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="536516"/>
<display value="Myopathic Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="536532"/>
<display value="Classical-like Ehlers-Danlos syndrome type 2"/>
</concept>
<concept>
<code value="536545"/>
<display value="Kyphoscoliotic Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="53689"/>
<display value="Congenital chloride diarrhea"/>
</concept>
<concept>
<code value="53690"/>
<display value="Congenital lactase deficiency"/>
</concept>
<concept>
<code value="53691"/>
<display value="Congenital cornea plana"/>
</concept>
<concept>
<code value="53693"/>
<display value="GRACILE syndrome"/>
</concept>
<concept>
<code value="53696"/>
<display value="Arthrogryposis-anterior horn cell disease syndrome"/>
</concept>
<concept>
<code value="53697"/>
<display value="Gnathodiaphyseal dysplasia"/>
</concept>
<concept>
<code value="53698"/>
<display value="Myosin storage myopathy"/>
</concept>
<concept>
<code value="537"/>
<display value="Toxic epidermal necrolysis"/>
</concept>
<concept>
<code value="537072"/>
<display value="PLG-related hereditary angioedema with normal C1Inh"/>
</concept>
<concept>
<code value="53715"/>
<display value="Familial tumoral calcinosis"/>
</concept>
<concept>
<code value="53719"/>
<display
value="Cerebrofacial arteriovenous metameric syndrome type 2"/>
</concept>
<concept>
<code value="53721"/>
<display value="Spinal arteriovenous metameric syndrome"/>
</concept>
<concept>
<code value="538"/>
<display value="Lymphangioleiomyomatosis"/>
</concept>
<concept>
<code value="538096"/>
<display
value="Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"/>
</concept>
<concept>
<code value="538101"/>
<display value="Congenital axonal neuropathy with encephalopathy"/>
</concept>
<concept>
<code value="538574"/>
<display
value="Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome"/>
</concept>
<concept>
<code value="538756"/>
<display value="Familial multiple discoid fibromas"/>
</concept>
<concept>
<code value="538863"/>
<display value="Classic pyoderma gangrenosum"/>
</concept>
<concept>
<code value="538866"/>
<display value="Pustular pyoderma gangrenosum"/>
</concept>
<concept>
<code value="538869"/>
<display value="Bullous pyoderma gangrenosum"/>
</concept>
<concept>
<code value="538872"/>
<display value="Vegetative pyoderma gangrenosum"/>
</concept>
<concept>
<code value="538931"/>
<display
value="X-linked lymphoproliferative disease due to SAP deficiency"/>
</concept>
<concept>
<code value="538934"/>
<display
value="X-linked lymphoproliferative disease due to XIAP deficiency"/>
</concept>
<concept>
<code value="538958"/>
<display value="Combined immunodeficiency due to CD70 deficiency"/>
</concept>
<concept>
<code value="538963"/>
<display value="Combined immunodeficiency due to ITK deficiency"/>
</concept>
<concept>
<code value="54"/>
<display value="X-linked recessive ocular albinism"/>
</concept>
<concept>
<code value="540"/>
<display value="Familial hemophagocytic lymphohistiocytosis"/>
</concept>
<concept>
<code value="54028"/>
<display value="Plummer-Vinson syndrome"/>
</concept>
<concept>
<code value="54057"/>
<display value="Thrombotic thrombocytopenic purpura"/>
</concept>
<concept>
<code value="541423"/>
<display
value="Growth delay-intellectual disability-hepatopathy syndrome"/>
</concept>
<concept>
<code value="541443"/>
<display value="Anomalous aortic origin of the left coronary artery"/>
</concept>
<concept>
<code value="541454"/>
<display
value="Anomalous aortic origin of the right coronary artery"/>
</concept>
<concept>
<code value="541507"/>
<display
value="Anomalous origin of coronary artery from the pulmonary artery"/>
</concept>
<concept>
<code value="542301"/>
<display value="Combined immunodeficiency due to CARMIL2 deficiency"/>
</concept>
<concept>
<code value="542306"/>
<display
value="GNB5-related intellectual disability-cardiac arrhythmia syndrome"/>
</concept>
<concept>
<code value="542310"/>
<display value="Leukoencephalopathy with calcifications and cysts"/>
</concept>
<concept>
<code value="542323"/>
<display
value="CAR T cell therapy-associated cytokine release syndrome"/>
</concept>
<concept>
<code value="54247"/>
<display value="Posterior cortical atrophy"/>
</concept>
<concept>
<code value="54251"/>
<display value="Aseptic abscess syndrome"/>
</concept>
<concept>
<code value="542568"/>
<display value="Quadricuspid aortic valve"/>
</concept>
<concept>
<code value="542585"/>
<display value="Auditory neuropathy-optic atrophy syndrome"/>
</concept>
<concept>
<code value="542592"/>
<display value="Necrobiosis lipoidica"/>
</concept>
<concept>
<code value="54260"/>
<display value="Left ventricular noncompaction"/>
</concept>
<concept>
<code value="542643"/>
<display value="Livedoid vasculopathy"/>
</concept>
<concept>
<code value="542657"/>
<display value="Isolated hyperchlorhidrosis"/>
</concept>
<concept>
<code value="54272"/>
<display value="Hepatocellular adenoma"/>
</concept>
<concept>
<code value="543"/>
<display value="Burkitt lymphoma"/>
</concept>
<concept>
<code value="543470"/>
<display
value="Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"/>
</concept>
<concept>
<code value="54368"/>
<display value="Sarcocystosis"/>
</concept>
<concept>
<code value="54370"/>
<display value="Primary membranoproliferative glomerulonephritis"/>
</concept>
<concept>
<code value="544254"/>
<display
value="SYNGAP1-related developmental and epileptic encephalopathy"/>
</concept>
<concept>
<code value="544469"/>
<display value="PRUNE1-related neurological syndrome"/>
</concept>
<concept>
<code value="544472"/>
<display
value="Atypical hemolytic uremic syndrome with complement gene abnormality"/>
</concept>
<concept>
<code value="544482"/>
<display value="Infection-related hemolytic uremic syndrome"/>
</concept>
<concept>
<code value="544488"/>
<display
value="Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"/>
</concept>
<concept>
<code value="544493"/>
<display
value="Streptococcus pneumoniae-associated hemolytic uremic syndrome"/>
</concept>
<concept>
<code value="544503"/>
<display
value="RNF13-related severe early-onset epileptic encephalopathy"/>
</concept>
<concept>
<code value="544578"/>
<display
value="Congenital primary megaureter, refluxing and obstructed form"/>
</concept>
<concept>
<code value="544602"/>
<display
value="Congenital myopathy with reduced type 2 muscle fibers"/>
</concept>
<concept>
<code value="544628"/>
<display
value="Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"/>
</concept>
<concept>
<code value="545"/>
<display value="Follicular lymphoma"/>
</concept>
<concept>
<code value="54595"/>
<display value="Craniopharyngioma"/>
</concept>
<concept>
<code value="548"/>
<display value="Leprosy"/>
</concept>
<concept>
<code value="549"/>
<display value="Legionnaires disease"/>
</concept>
<concept>
<code value="550"/>
<display value="MELAS"/>
</concept>
<concept>
<code value="551"/>
<display value="MERRF"/>
</concept>
<concept>
<code value="552"/>
<display value="MODY"/>
</concept>
<concept>
<code value="555402"/>
<display value="NAD(P)HX dehydratase deficiency"/>
</concept>
<concept>
<code value="555407"/>
<display value="NAD(P)HX epimerase deficiency"/>
</concept>
<concept>
<code value="555434"/>
<display
value="Fibrohistiocytic inflammatory pseudotumor of the liver"/>
</concept>
<concept>
<code value="555437"/>
<display
value="Lymphoplasmacytic inflammatory pseudotumor of the liver"/>
</concept>
<concept>
<code value="555874"/>
<display value="Congenital tricuspid valve dysplasia"/>
</concept>
<concept>
<code value="555877"/>
<display value="FLNA-related X-linked myxomatous valvular dysplasia"/>
</concept>
<concept>
<code value="555905"/>
<display value="IgA pemphigus"/>
</concept>
<concept>
<code value="55595"/>
<display value="TNP03-related limb-girdle muscular dystrophy D2"/>
</concept>
<concept>
<code value="55596"/>
<display value="HNRNPDL-related limb-girdle muscular dystrophy D3"/>
</concept>
<concept>
<code value="556"/>
<display value="Malakoplakia"/>
</concept>
<concept>
<code value="556030"/>
<display value="Early-onset familial hypoaldosteronism"/>
</concept>
<concept>
<code value="556037"/>
<display value="Late-onset familial hypoaldosteronism"/>
</concept>
<concept>
<code value="55654"/>
<display value="Hypotrichosis simplex"/>
</concept>
<concept>
<code value="55655"/>
<display value="Pneumococcal meningitis"/>
</concept>
<concept>
<code value="556955"/>
<display value="Pancreatic agenesis-holoprosencephaly syndrome"/>
</concept>
<concept>
<code value="556985"/>
<display
value="Early-onset calcifying leukoencephalopathy-skeletal dysplasia"/>
</concept>
<concept>
<code value="557003"/>
<display value="Oculoskeletodental syndrome"/>
</concept>
<concept>
<code value="557056"/>
<display
value="Spastic ataxia-dysarthria due to glutaminase deficiency"/>
</concept>
<concept>
<code value="557064"/>
<display
value="Neonatal epileptic encephalopathy due to glutaminase deficiency"/>
</concept>
<concept>
<code value="558"/>
<display value="Marfan syndrome"/>
</concept>
<concept>
<code value="558411"/>
<display value="Idiopathic gastroparesis"/>
</concept>
<concept>
<code value="55880"/>
<display value="Chondrosarcoma"/>
</concept>
<concept>
<code value="55881"/>
<display value="Adamantinoma"/>
</concept>
<concept>
<code value="559"/>
<display value="Marinesco-Sjögren syndrome"/>
</concept>
<concept>
<code value="56"/>
<display value="Alkaptonuria"/>
</concept>
<concept>
<code value="560"/>
<display value="Marshall syndrome"/>
</concept>
<concept>
<code value="561"/>
<display value="Marshall-Smith syndrome"/>
</concept>
<concept>
<code value="561854"/>
<display value="FOXG1 syndrome"/>
</concept>
<concept>
<code value="562"/>
<display value="McCune-Albright syndrome"/>
</concept>
<concept>
<code value="562509"/>
<display value="Heme oxygenase-1 deficiency"/>
</concept>
<concept>
<code value="562528"/>
<display
value="Congenital limbs-face contractures-hypotonia-developmental delay syndrome"/>
</concept>
<concept>
<code value="562538"/>
<display value="Autosomal recessive extra-oral halitosis"/>
</concept>
<concept>
<code value="562559"/>
<display
value="Anterior maxillary protrusion-strabismus-intellectual disability syndrome"/>
</concept>
<concept>
<code value="562569"/>
<display
value="TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"/>
</concept>
<concept>
<code value="562639"/>
<display
value="Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome"/>
</concept>
<concept>
<code value="563"/>
<display value="Peripartum cardiomyopathy"/>
</concept>
<concept>
<code value="56304"/>
<display value="Atelosteogenesis type II"/>
</concept>
<concept>
<code value="56305"/>
<display value="Atelosteogenesis type III"/>
</concept>
<concept>
<code value="563576"/>
<display value="Autoimmune hepatitis type 1"/>
</concept>
<concept>
<code value="563581"/>
<display value="Autoimmune hepatitis type 2"/>
</concept>
<concept>
<code value="563589"/>
<display value="Seronegative autoimmune hepatitis"/>
</concept>
<concept>
<code value="563609"/>
<display value="Isolated anencephaly"/>
</concept>
<concept>
<code value="563612"/>
<display value="Isolated exencephaly"/>
</concept>
<concept>
<code value="563666"/>
<display value="Serous cystadenoma of childhood"/>
</concept>
<concept>
<code value="563671"/>
<display value="Mucinous cystadenoma of childhood"/>
</concept>
<concept>
<code value="563676"/>
<display value="Seromucinous cystadenoma of childhood"/>
</concept>
<concept>
<code value="563684"/>
<display value="Furuncular myiasis due to Dermatobia hominis"/>
</concept>
<concept>
<code value="563687"/>
<display value="Furuncular myiasis due to Cordylobia anthropophaga"/>
</concept>
<concept>
<code value="563690"/>
<display value="Furuncular myiasis due to Cordylobia rodhaini"/>
</concept>
<concept>
<code value="563708"/>
<display value="Syndromic congenital sodium diarrhea"/>
</concept>
<concept>
<code value="563951"/>
<display value="Isolated congenital aglossia"/>
</concept>
<concept>
<code value="563954"/>
<display value="Isolated congenital hypoglossia"/>
</concept>
<concept>
<code value="563991"/>
<display value="Osteochondrosis of the tarsal bone"/>
</concept>
<concept>
<code value="564"/>
<display value="Meckel syndrome"/>
</concept>
<concept>
<code value="564003"/>
<display value="Osteochondrosis of the metatarsal bone"/>
</concept>
<concept>
<code value="564178"/>
<display
value="Primary hypomagnesemia-refractory seizures-intellectual disability syndrome"/>
</concept>
<concept>
<code value="56425"/>
<display value="Cold agglutinin disease"/>
</concept>
<concept>
<code value="565"/>
<display value="Menkes disease"/>
</concept>
<concept>
<code value="565612"/>
<display value="Primary triglyceride deposit cardiomyovasculopathy"/>
</concept>
<concept>
<code value="565624"/>
<display value="Combined oxidative phosphorylation defect type 39"/>
</concept>
<concept>
<code value="565641"/>
<display value="Primary desmosis coli"/>
</concept>
<concept>
<code value="565782"/>
<display value="Methotrexate toxicity"/>
</concept>
<concept>
<code value="565788"/>
<display
value="Infantile inflammatory bowel disease with neurological involvement"/>
</concept>
<concept>
<code value="565837"/>
<display
value="Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23"/>
</concept>
<concept>
<code value="565858"/>
<display
value="Craniosynostosis-microretrognathia-severe intellectual disability syndrome"/>
</concept>
<concept>
<code value="565899"/>
<display value="POMGNT2-related limb-girdle muscular dystrophy R24"/>
</concept>
<concept>
<code value="565909"/>
<display value="Calpain-3-related limb-girdle muscular dystrophy D4"/>
</concept>
<concept>
<code value="566"/>
<display value="Congenital microcoria"/>
</concept>
<concept>
<code value="566067"/>
<display
value="CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome"/>
</concept>
<concept>
<code value="566175"/>
<display
value="Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome"/>
</concept>
<concept>
<code value="566192"/>
<display
value="Congenital autosomal recessive small-platelet thrombocytopenia"/>
</concept>
<concept>
<code value="566231"/>
<display
value="Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"/>
</concept>
<concept>
<code value="566243"/>
<display
value="Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"/>
</concept>
<concept>
<code value="566393"/>
<display value="Acute mast cell leukemia"/>
</concept>
<concept>
<code value="566396"/>
<display value="Chronic mast cell leukemia"/>
</concept>
<concept>
<code value="566841"/>
<display value="Liver adenomatosis"/>
</concept>
<concept>
<code value="566847"/>
<display value="Aprosencephaly/atelencephaly spectrum"/>
</concept>
<concept>
<code value="566852"/>
<display value="Atelencephaly"/>
</concept>
<concept>
<code value="566857"/>
<display value="Aprosencephaly"/>
</concept>
<concept>
<code value="566862"/>
<display value="Left sided atrial isomerism"/>
</concept>
<concept>
<code value="566943"/>
<display value="Mueller-Weiss syndrome"/>
</concept>
<concept>
<code value="567"/>
<display value="22q11.2 deletion syndrome"/>
</concept>
<concept>
<code value="567502"/>
<display
value="B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome"/>
</concept>
<concept>
<code value="567544"/>
<display value="Idiopathic non-lupus full-house nephropathy"/>
</concept>
<concept>
<code value="567546"/>
<display
value="Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance"/>
</concept>
<concept>
<code value="567548"/>
<display value="Idiopathic steroid-resistant nephrotic syndrome"/>
</concept>
<concept>
<code value="567550"/>
<display value="Idiopathic multidrug-resistant nephrotic syndrome"/>
</concept>
<concept>
<code value="567552"/>
<display
value="Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy"/>
</concept>
<concept>
<code value="567983"/>
<display value="Parenteral nutrition-associated cholestasis"/>
</concept>
<concept>
<code value="568"/>
<display value="Microphthalmia, Lenz type"/>
</concept>
<concept>
<code value="568051"/>
<display value="GJC2-related late-onset primary lymphedema"/>
</concept>
<concept>
<code value="568056"/>
<display
value="Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome"/>
</concept>
<concept>
<code value="568062"/>
<display
value="PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"/>
</concept>
<concept>
<code value="568065"/>
<display value="EPHB4-related lymphatic-related hydrops fetalis"/>
</concept>
<concept>
<code value="569"/>
<display value="Familial or sporadic hemiplegic migraine"/>
</concept>
<concept>
<code value="569164"/>
<display value="Angiomatoid fibrous histiocytoma"/>
</concept>
<concept>
<code value="569248"/>
<display value="Microcystic stromal tumor"/>
</concept>
<concept>
<code value="569274"/>
<display value="Multiple mitochondrial dysfunctions syndrome type 5"/>
</concept>
<concept>
<code value="569290"/>
<display value="Multiple mitochondrial dysfunctions syndrome type 6"/>
</concept>
<concept>
<code value="569816"/>
<display value="CELSR1-related late-onset primary lymphedema"/>
</concept>
<concept>
<code value="569821"/>
<display value="Congenital primary lymphedema of Gordon"/>
</concept>
<concept>
<code value="57"/>
<display
value="Glycogen storage disease due to aldolase A deficiency"/>
</concept>
<concept>
<code value="570"/>
<display value="Moebius syndrome"/>
</concept>
<concept>
<code value="570371"/>
<display value="Bartter syndrome type 5"/>
</concept>
<concept>
<code value="570422"/>
<display value="Galactose mutarotase deficiency"/>
</concept>
<concept>
<code value="570431"/>
<display value="Idiopathic multicentric Castleman disease"/>
</concept>
<concept>
<code value="570438"/>
<display value="HHV-8-associated multicentric Castleman disease"/>
</concept>
<concept>
<code value="570470"/>
<display value="Ricin poisoning"/>
</concept>
<concept>
<code value="570491"/>
<display
value="QRSL1-related combined oxidative phosphorylation defect"/>
</concept>
<concept>
<code value="570762"/>
<display value="Infective endocarditis"/>
</concept>
<concept>
<code value="57145"/>
<display value="SUNCT syndrome"/>
</concept>
<concept>
<code value="57196"/>
<display value="Medial condensing osteitis of the clavicle"/>
</concept>
<concept>
<code value="572"/>
<display
value="Immunodeficiency by defective expression of MHC class II"/>
</concept>
<concept>
<code value="572013"/>
<display
value="Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"/>
</concept>
<concept>
<code value="572333"/>
<display
value="Blepharophimosis-ptosis-epicanthus inversus syndrome plus"/>
</concept>
<concept>
<code value="572354"/>
<display
value="Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"/>
</concept>
<concept>
<code value="572361"/>
<display
value="Blepharophimosis-ptosis-epicanthus inversus syndrome type 2"/>
</concept>
<concept>
<code value="572385"/>
<display value="Brachydactyly type B1"/>
</concept>
<concept>
<code value="572428"/>
<display
value="Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"/>
</concept>
<concept>
<code value="572543"/>
<display value="RFVT2-related riboflavin transporter deficiency"/>
</concept>
<concept>
<code value="572550"/>
<display value="RFVT3-related riboflavin transporter deficiency"/>
</concept>
<concept>
<code value="572761"/>
<display
value="DONSON-related microcephaly-short stature-limb abnormalities spectrum"/>
</concept>
<concept>
<code value="572768"/>
<display value="Microcephaly-micromelia syndrome"/>
</concept>
<concept>
<code value="572773"/>
<display
value="Microcephaly-short stature-limb abnormalities syndrome"/>
</concept>
<concept>
<code value="572798"/>
<display
value="WARS2-related combined oxidative phosphorylation defect"/>
</concept>
<concept>
<code value="573"/>
<display value="Monilethrix"/>
</concept>
<concept>
<code value="573253"/>
<display value="Split cord malformation type II"/>
</concept>
<concept>
<code value="574"/>
<display value="21q deletion syndrome"/>
</concept>
<concept>
<code value="574918"/>
<display
value="Predisposition to severe viral infection due to IRF7 deficiency"/>
</concept>
<concept>
<code value="574957"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency"/>
</concept>
<concept>
<code value="575"/>
<display value="Muckle-Wells syndrome"/>
</concept>
<concept>
<code value="575553"/>
<display
value="Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"/>
</concept>
<concept>
<code value="576"/>
<display value="Mucolipidosis type II"/>
</concept>
<concept>
<code value="576074"/>
<display value="Middle East respiratory syndrome"/>
</concept>
<concept>
<code value="576227"/>
<display
value="Complete atrioventricular septal defect without ventricular hypoplasia"/>
</concept>
<concept>
<code value="576232"/>
<display
value="Partial atrioventricular septal defect with ventricular hypoplasia"/>
</concept>
<concept>
<code value="576235"/>
<display
value="Partial atrioventricular septal defect without ventricular hypoplasia"/>
</concept>
<concept>
<code value="576242"/>
<display value="Intermediate atrioventricular septal defect"/>
</concept>
<concept>
<code value="576278"/>
<display value="SATB2-associated syndrome"/>
</concept>
<concept>
<code value="576283"/>
<display
value="SATB2-associated syndrome due to a pathogenic variant"/>
</concept>
<concept>
<code value="576349"/>
<display
value="NLRC4-related familial cold autoinflammatory syndrome"/>
</concept>
<concept>
<code value="576370"/>
<display value="Variant Creutzfeldt-Jakob disease"/>
</concept>
<concept>
<code value="576379"/>
<display value="Iatrogenic Creutzfeldt-Jakob disease"/>
</concept>
<concept>
<code value="577"/>
<display value="Mucolipidosis type III"/>
</concept>
<concept>
<code value="57782"/>
<display value="Mazabraud syndrome"/>
</concept>
<concept>
<code value="578"/>
<display value="Mucolipidosis type IV"/>
</concept>
<concept>
<code value="579"/>
<display value="Mucopolysaccharidosis type 1"/>
</concept>
<concept>
<code value="58"/>
<display value="Alexander disease"/>
</concept>
<concept>
<code value="580"/>
<display value="Mucopolysaccharidosis type 2"/>
</concept>
<concept>
<code value="58017"/>
<display value="Classic hairy cell leukemia"/>
</concept>
<concept>
<code value="58040"/>
<display value="Osteoblastoma"/>
</concept>
<concept>
<code value="580572"/>
<display value="Intraductal tubulopapillary neoplasm of pancreas"/>
</concept>
<concept>
<code value="580933"/>
<display value="Lethal brain and heart developmental defects"/>
</concept>
<concept>
<code value="580940"/>
<display
value="QRICH1-related intellectual disability-chondrodysplasia syndrome"/>
</concept>
<concept>
<code value="580951"/>
<display value="Punctate inner choroidopathy"/>
</concept>
<concept>
<code value="581"/>
<display value="Mucopolysaccharidosis type 3"/>
</concept>
<concept>
<code value="581271"/>
<display value="Cramp-fasciculation syndrome"/>
</concept>
<concept>
<code value="582"/>
<display value="Mucopolysaccharidosis type 4"/>
</concept>
<concept>
<code value="583"/>
<display value="Mucopolysaccharidosis type 6"/>
</concept>
<concept>
<code value="583097"/>
<display value="Congenital infiltrating lipomatosis of the face"/>
</concept>
<concept>
<code value="583595"/>
<display
value="Serine biosynthesis pathway deficiency, infantile/juvenile form"/>
</concept>
<concept>
<code value="583602"/>
<display
value="Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency"/>
</concept>
<concept>
<code value="583607"/>
<display
value="Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"/>
</concept>
<concept>
<code value="583612"/>
<display
value="Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency"/>
</concept>
<concept>
<code value="583856"/>
<display value="Isolated splenic vein thrombosis"/>
</concept>
<concept>
<code value="583861"/>
<display value="Isolated mesenteric vein thrombosis"/>
</concept>
<concept>
<code value="584"/>
<display value="Mucopolysaccharidosis type 7"/>
</concept>
<concept>
<code value="585"/>
<display value="Multiple sulfatase deficiency"/>
</concept>
<concept>
<code value="585867"/>
<display value="Acute myeloid leukemia with t(9;22)(q34.1;q11.2)"/>
</concept>
<concept>
<code value="585877"/>
<display
value="B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"/>
</concept>
<concept>
<code value="585909"/>
<display
value="B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"/>
</concept>
<concept>
<code value="585918"/>
<display value="B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)"/>
</concept>
<concept>
<code value="585929"/>
<display
value="B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)"/>
</concept>
<concept>
<code value="585936"/>
<display
value="B-lymphoblastic leukemia/lymphoma with hyperdiploidy"/>
</concept>
<concept>
<code value="585942"/>
<display value="B-lymphoblastic leukemia/lymphoma with hypodiploidy"/>
</concept>
<concept>
<code value="585948"/>
<display
value="B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)"/>
</concept>
<concept>
<code value="585956"/>
<display
value="B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"/>
</concept>
<concept>
<code value="586"/>
<display value="Cystic fibrosis"/>
</concept>
<concept>
<code value="586130"/>
<display value="Sporadic fatal insomnia"/>
</concept>
<concept>
<code value="588"/>
<display value="Muscle-eye-brain disease"/>
</concept>
<concept>
<code value="589"/>
<display value="Myasthenia gravis"/>
</concept>
<concept>
<code value="589435"/>
<display
value="Spondylometaphyseal dysplasia-corneal dystrophy syndrome"/>
</concept>
<concept>
<code value="589442"/>
<display
value="Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome"/>
</concept>
<concept>
<code value="589515"/>
<display
value="PUM1-associated developmental disability-ataxia-seizure syndrome"/>
</concept>
<concept>
<code value="589522"/>
<display value="Spinocerebellar ataxia type 46"/>
</concept>
<concept>
<code value="589527"/>
<display value="Spinocerebellar ataxia type 45"/>
</concept>
<concept>
<code value="589534"/>
<display
value="Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"/>
</concept>
<concept>
<code value="589542"/>
<display
value="Myeloid/lymphoid neoplasm associated with JAK2 rearrangement"/>
</concept>
<concept>
<code value="589547"/>
<display
value="GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"/>
</concept>
<concept>
<code value="589595"/>
<display value="Mixed phenotype acute leukemia with t(v;11q23.3)"/>
</concept>
<concept>
<code value="589608"/>
<display
value="Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"/>
</concept>
<concept>
<code value="589618"/>
<display value="Dystonia 28"/>
</concept>
<concept>
<code value="589821"/>
<display value="Congenital-onset Steinert myotonic dystrophy"/>
</concept>
<concept>
<code value="589824"/>
<display value="Childhood-onset Steinert myotonic dystrophy"/>
</concept>
<concept>
<code value="589827"/>
<display value="Juvenile-onset Steinert myotonic dystrophy"/>
</concept>
<concept>
<code value="589830"/>
<display value="Adult-onset Steinert myotonic dystrophy"/>
</concept>
<concept>
<code value="589833"/>
<display value="Late-onset Steinert myotonic dystrophy"/>
</concept>
<concept>
<code value="589856"/>
<display
value="Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"/>
</concept>
<concept>
<code value="589905"/>
<display
value="PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"/>
</concept>
<concept>
<code value="59"/>
<display value="Allan-Herndon-Dudley syndrome"/>
</concept>
<concept>
<code value="590"/>
<display value="Congenital myasthenic syndrome"/>
</concept>
<concept>
<code value="590539"/>
<display value="Isolated melanotic schwannoma"/>
</concept>
<concept>
<code value="591"/>
<display value="Furuncular myiasis"/>
</concept>
<concept>
<code value="59135"/>
<display value="Laing distal myopathy"/>
</concept>
<concept>
<code value="59181"/>
<display value="Sorsby pseudoinflammatory fundus dystrophy"/>
</concept>
<concept>
<code value="592"/>
<display value="Macrophagic myofasciitis"/>
</concept>
<concept>
<code value="592564"/>
<display
value="GNAO1-related developmental delay-seizures-movement disorder spectrum"/>
</concept>
<concept>
<code value="592570"/>
<display
value="TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"/>
</concept>
<concept>
<code value="592574"/>
<display value="Menke-Hennekam syndrome"/>
</concept>
<concept>
<code value="592850"/>
<display
value="Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies"/>
</concept>
<concept>
<code value="592856"/>
<display
value="Neuromyelitis optica spectrum disorder with anti-MOG antibodies"/>
</concept>
<concept>
<code value="592869"/>
<display
value="Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies"/>
</concept>
<concept>
<code value="592873"/>
<display value="Acute transverse myelitis with anti-MOG antibodies"/>
</concept>
<concept>
<code value="592894"/>
<display
value="Acute disseminated encephalomyelitis with anti-MOG antibodies"/>
</concept>
<concept>
<code value="592900"/>
<display
value="Acute disseminated encephalomyelitis without anti-MOG antibodies"/>
</concept>
<concept>
<code value="59298"/>
<display value="Schilder disease"/>
</concept>
<concept>
<code value="59303"/>
<display value="Neonatal ichthyosis-sclerosing cholangitis syndrome"/>
</concept>
<concept>
<code value="59306"/>
<display value="McLeod neuroacanthocytosis syndrome"/>
</concept>
<concept>
<code value="59315"/>
<display value="Rhombencephalosynapsis"/>
</concept>
<concept>
<code value="595098"/>
<display value="Timothy syndrome type 1"/>
</concept>
<concept>
<code value="595105"/>
<display value="Timothy syndrome type 2"/>
</concept>
<concept>
<code value="595109"/>
<display value="Atypical Timothy syndrome"/>
</concept>
<concept>
<code value="595133"/>
<display value="Perivascular epithelioid cell neoplasm"/>
</concept>
<concept>
<code value="595356"/>
<display value="Localized dystrophic epidermolysis bullosa"/>
</concept>
<concept>
<code value="596"/>
<display value="X-linked centronuclear myopathy"/>
</concept>
<concept>
<code value="596008"/>
<display
value="Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"/>
</concept>
<concept>
<code value="596448"/>
<display value="IgG4-related systemic disease"/>
</concept>
<concept>
<code value="596753"/>
<display value="VEXAS syndrome"/>
</concept>
<concept>
<code value="596759"/>
<display
value="Combined immunodeficiency due to RELA haploinsufficiency"/>
</concept>
<concept>
<code value="596937"/>
<display value="Portosinusoidal vascular disease"/>
</concept>
<concept>
<code value="596941"/>
<display value="Incomplete septal cirrhosis"/>
</concept>
<concept>
<code value="597"/>
<display value="Central core disease"/>
</concept>
<concept>
<code value="597201"/>
<display value="TRIM22-related inflammatory bowel disease"/>
</concept>
<concept>
<code value="597623"/>
<display
value="IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"/>
</concept>
<concept>
<code value="597733"/>
<display value="Oculocutaneous albinism type 8"/>
</concept>
<concept>
<code value="597738"/>
<display value="Luscan-Lumish syndrome"/>
</concept>
<concept>
<code value="597743"/>
<display
value="SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"/>
</concept>
<concept>
<code value="597746"/>
<display
value="Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"/>
</concept>
<concept>
<code value="597874"/>
<display
value="MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"/>
</concept>
<concept>
<code value="597887"/>
<display value="ALPI-related inflammatory bowel disease"/>
</concept>
<concept>
<code value="597939"/>
<display value="Euthyroid dysprealbuminemic hyperthyroxinemia"/>
</concept>
<concept>
<code value="598"/>
<display value="Multiminicore myopathy"/>
</concept>
<concept>
<code value="598164"/>
<display value="FOXG1 syndrome due to intragenic alteration"/>
</concept>
<concept>
<code value="598216"/>
<display value="Upper tract urothelial carcinoma"/>
</concept>
<concept>
<code value="598363"/>
<display
value="Multisystem inflammatory syndrome in children and adults"/>
</concept>
<concept>
<code value="598603"/>
<display
value="Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome"/>
</concept>
<concept>
<code value="599082"/>
<display
value="CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="599373"/>
<display value="STXBP1-related encephalopathy"/>
</concept>
<concept>
<code value="599376"/>
<display value="Hypomyelination of early myelinating structures"/>
</concept>
<concept>
<code value="599418"/>
<display
value="Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"/>
</concept>
<concept>
<code value="599480"/>
<display value="Acquired hemophilia A"/>
</concept>
<concept>
<code value="599485"/>
<display value="Acquired hemophilia B"/>
</concept>
<concept>
<code value="599490"/>
<display value="Acquired factor V deficiency"/>
</concept>
<concept>
<code value="599495"/>
<display value="Acquired factor VII deficiency"/>
</concept>
<concept>
<code value="599501"/>
<display value="Acquired factor X deficiency"/>
</concept>
<concept>
<code value="599507"/>
<display value="Acquired factor XI deficiency"/>
</concept>
<concept>
<code value="599513"/>
<display value="Acquired factor XIII deficiency"/>
</concept>
<concept>
<code value="599519"/>
<display value="Factor V short isoforms-related bleeding disorder"/>
</concept>
<concept>
<code value="599579"/>
<display value="Factor V Amsterdam bleeding disorder"/>
</concept>
<concept>
<code value="6"/>
<display value="3-methylcrotonyl-CoA carboxylase deficiency"/>
</concept>
<concept>
<code value="60"/>
<display value="Alpha-1-antitrypsin deficiency"/>
</concept>
<concept>
<code value="600"/>
<display value="Vocal cord and pharyngeal distal myopathy"/>
</concept>
<concept>
<code value="60014"/>
<display value="Argyria"/>
</concept>
<concept>
<code value="60015"/>
<display value="Enlarged parietal foramina"/>
</concept>
<concept>
<code value="600194"/>
<display value="Factor V Atlanta bleeding disorder"/>
</concept>
<concept>
<code value="60025"/>
<display value="Pulmonary alveolar microlithiasis"/>
</concept>
<concept>
<code value="60026"/>
<display value="Pulmonary nodular lymphoid hyperplasia"/>
</concept>
<concept>
<code value="60030"/>
<display value="Loeys-Dietz syndrome"/>
</concept>
<concept>
<code value="60032"/>
<display value="Recurrent respiratory papillomatosis"/>
</concept>
<concept>
<code value="60033"/>
<display value="Idiopathic bronchiectasis"/>
</concept>
<concept>
<code value="60039"/>
<display value="Pudendal nerve entrapment syndrome"/>
</concept>
<concept>
<code value="60040"/>
<display
value="Megalencephaly-capillary malformation-polymicrogyria syndrome"/>
</concept>
<concept>
<code value="60041"/>
<display value="Congenital heart block"/>
</concept>
<concept>
<code value="600663"/>
<display
value="NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"/>
</concept>
<concept>
<code value="600668"/>
<display
value="CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="600691"/>
<display value="Combined deficiency of factor VII and factor X"/>
</concept>
<concept>
<code value="600731"/>
<display value="Clark-Baraitser syndrome"/>
</concept>
<concept>
<code value="600952"/>
<display value="Non-syndromic perineal fistula"/>
</concept>
<concept>
<code value="600961"/>
<display value="Non-syndromic rectourethral fistula"/>
</concept>
<concept>
<code value="600966"/>
<display value="Non-syndromic rectourethral fistula, bulbar type"/>
</concept>
<concept>
<code value="600975"/>
<display value="Non-syndromic rectourethral fistula, prostatic type"/>
</concept>
<concept>
<code value="600984"/>
<display value="Non-syndromic rectovesical fistula"/>
</concept>
<concept>
<code value="600993"/>
<display value="Non-syndromic vestibular fistula"/>
</concept>
<concept>
<code value="600998"/>
<display value="Non-syndromic cloacal malformation"/>
</concept>
<concept>
<code value="601002"/>
<display
value="Non-syndromic anorectal malformation without fistula"/>
</concept>
<concept>
<code value="601008"/>
<display value="Non-syndromic anal stenosis"/>
</concept>
<concept>
<code value="601013"/>
<display value="Non-syndromic pouch colon"/>
</concept>
<concept>
<code value="601018"/>
<display value="Non-syndromic rectal atresia"/>
</concept>
<concept>
<code value="601023"/>
<display value="Non-syndromic rectal stenosis"/>
</concept>
<concept>
<code value="601028"/>
<display value="Non-syndromic rectovaginal fistula"/>
</concept>
<concept>
<code value="601033"/>
<display value="Non-syndromic H-type fistula"/>
</concept>
<concept>
<code value="602"/>
<display value="GNE myopathy"/>
</concept>
<concept>
<code value="603"/>
<display value="Distal myopathy, Welander type"/>
</concept>
<concept>
<code value="603448"/>
<display
value="Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"/>
</concept>
<concept>
<code value="603494"/>
<display
value="Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome"/>
</concept>
<concept>
<code value="603515"/>
<display value="Isolated female hypospadias"/>
</concept>
<concept>
<code value="603684"/>
<display
value="KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome"/>
</concept>
<concept>
<code value="603689"/>
<display value="KLHL7-related Bohring-Opitz-like syndrome"/>
</concept>
<concept>
<code value="603694"/>
<display
value="KLHL7-related Crisponi/cold-induced sweating-like syndrome"/>
</concept>
<concept>
<code value="604680"/>
<display
value="Symptomatic form of X-linked centronuclear myopathy in female carriers"/>
</concept>
<concept>
<code value="606"/>
<display value="Proximal myotonic myopathy"/>
</concept>
<concept>
<code value="609"/>
<display value="Tibial muscular dystrophy"/>
</concept>
<concept>
<code value="61"/>
<display value="Alpha-mannosidosis"/>
</concept>
<concept>
<code value="610"/>
<display value="Bethlem muscular dystrophy"/>
</concept>
<concept>
<code value="610569"/>
<display
value="KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome"/>
</concept>
<concept>
<code value="610573"/>
<display
value="CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"/>
</concept>
<concept>
<code value="611"/>
<display value="Inclusion body myositis"/>
</concept>
<concept>
<code value="611201"/>
<display value="Oculogastrointestinal-neurodevelopmental syndrome"/>
</concept>
<concept>
<code value="611207"/>
<display
value="Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome"/>
</concept>
<concept>
<code value="611216"/>
<display
value="Aplastic anemia-intellectual disability-dwarfism syndrome"/>
</concept>
<concept>
<code value="611223"/>
<display value="EN1-related dorsoventral syndrome"/>
</concept>
<concept>
<code value="611237"/>
<display value="Parkinsonism with polyneuropathy"/>
</concept>
<concept>
<code value="611247"/>
<display value="Pontocerebellar hypoplasia type 11"/>
</concept>
<concept>
<code value="611256"/>
<display value="Pontocerebellar hypoplasia type 12"/>
</concept>
<concept>
<code value="613267"/>
<display value="Pontocerebellar hypoplasia type 13"/>
</concept>
<concept>
<code value="613274"/>
<display value="Pontocerebellar hypoplasia type 14"/>
</concept>
<concept>
<code value="614"/>
<display value="Thomsen and Becker disease"/>
</concept>
<concept>
<code value="615"/>
<display value="Familial atrial myxoma"/>
</concept>
<concept>
<code value="615938"/>
<display value="Spastic paraparesis-cataracts-speech delay syndrome"/>
</concept>
<concept>
<code value="615943"/>
<display value="Granuloma faciale"/>
</concept>
<concept>
<code value="615954"/>
<display
value="Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"/>
</concept>
<concept>
<code value="615964"/>
<display
value="Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate"/>
</concept>
<concept>
<code value="615970"/>
<display value="Chronic intervillositis of unknown etiology"/>
</concept>
<concept>
<code value="615983"/>
<display
value="Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"/>
</concept>
<concept>
<code value="615986"/>
<display
value="Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster"/>
</concept>
<concept>
<code value="616"/>
<display value="Medulloblastoma"/>
</concept>
<concept>
<code value="616874"/>
<display
value="Rare disorder without a determined diagnosis after full investigation"/>
</concept>
<concept>
<code value="617"/>
<display value="Congenital primary megaureter"/>
</concept>
<concept>
<code value="617294"/>
<display value="Twin anemia-polycythemia sequence"/>
</concept>
<concept>
<code value="617297"/>
<display value="Twin-reversed arterial perfusion sequence"/>
</concept>
<concept>
<code value="617301"/>
<display value="Selective intrauterine growth restriction"/>
</concept>
<concept>
<code value="617304"/>
<display value="Amniotic fluid embolism"/>
</concept>
<concept>
<code value="617408"/>
<display value="Classic eosinophilic pustular folliculitis"/>
</concept>
<concept>
<code value="617440"/>
<display value="Painful legs and moving toes syndrome"/>
</concept>
<concept>
<code value="617449"/>
<display
value="Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"/>
</concept>
<concept>
<code value="617910"/>
<display value="Conjunctival malignant melanoma"/>
</concept>
<concept>
<code value="617916"/>
<display
value="Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"/>
</concept>
<concept>
<code value="617919"/>
<display value="F12-associated cold autoinflammatory syndrome"/>
</concept>
<concept>
<code value="617930"/>
<display value="Hemophilia B Leyden"/>
</concept>
<concept>
<code value="618"/>
<display value="Familial melanoma"/>
</concept>
<concept>
<code value="618891"/>
<display
value="Chronic neurovisceral acid sphingomyelinase deficiency"/>
</concept>
<concept>
<code value="619233"/>
<display
value="Hereditary persistence of fetal hemoglobin-intellectual disability syndrome"/>
</concept>
<concept>
<code value="619363"/>
<display value="NOCARH syndrome"/>
</concept>
<concept>
<code value="619367"/>
<display value="SAMD9L-associated autoinflammatory syndrome"/>
</concept>
<concept>
<code value="619941"/>
<display
value="Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency"/>
</concept>
<concept>
<code value="619948"/>
<display
value="Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency"/>
</concept>
<concept>
<code value="619953"/>
<display
value="Familial hyperinflammatory lymphoproliferative immunodeficiency"/>
</concept>
<concept>
<code value="619972"/>
<display value="CADINS disease"/>
</concept>
<concept>
<code value="619979"/>
<display
value="Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"/>
</concept>
<concept>
<code value="62"/>
<display
value="Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"/>
</concept>
<concept>
<code value="620102"/>
<display value="Non-syndromic unicoronal craniosynostosis"/>
</concept>
<concept>
<code value="620113"/>
<display value="Non-syndromic unilambdoid craniosynostosis"/>
</concept>
<concept>
<code value="620139"/>
<display value="Non-syndromic unifrontosphenoidal craniosynostosis"/>
</concept>
<concept>
<code value="620146"/>
<display value="Non-syndromic unisquamosal craniosynostosis"/>
</concept>
<concept>
<code value="620158"/>
<display
value="Non-syndromic non-specific multisutural craniosynostosis"/>
</concept>
<concept>
<code value="620178"/>
<display value="Non-syndromic bilambdoid craniosynostosis"/>
</concept>
<concept>
<code value="620186"/>
<display
value="Non-syndromic unicoronal and sagittal craniosynostosis"/>
</concept>
<concept>
<code value="620192"/>
<display value="Non-syndromic metopic and sagittal craniosynostosis"/>
</concept>
<concept>
<code value="620198"/>
<display
value="Non-syndromic bicoronal and metopic craniosynostosis"/>
</concept>
<concept>
<code value="620205"/>
<display
value="Non-syndromic bicoronal and sagittal craniosynostosis"/>
</concept>
<concept>
<code value="620212"/>
<display value="Non-syndromic pansynostosis"/>
</concept>
<concept>
<code value="620217"/>
<display value="Bartter syndrome type 1"/>
</concept>
<concept>
<code value="620220"/>
<display value="Bartter syndrome type 2"/>
</concept>
<concept>
<code value="620363"/>
<display
value="Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"/>
</concept>
<concept>
<code value="620368"/>
<display
value="EGF-related primary hypomagnesemia with intellectual disability"/>
</concept>
<concept>
<code value="620371"/>
<display
value="Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation"/>
</concept>
<concept>
<code value="621"/>
<display value="Hereditary methemoglobinemia"/>
</concept>
<concept>
<code value="621758"/>
<display
value="Fibrosis-neurodegeneration-cerebral angiomatosis syndrome"/>
</concept>
<concept>
<code value="622"/>
<display value="Homocystinuria without methylmalonic aciduria"/>
</concept>
<concept>
<code value="622099"/>
<display value="Superior mesenteric artery syndrome"/>
</concept>
<concept>
<code value="622925"/>
<display
value="X-linked severe syndromic thoracic aortic aneurysm and dissection"/>
</concept>
<concept>
<code value="622934"/>
<display
value="SBDS-related severe neonatal spondylometaphyseal dysplasia"/>
</concept>
<concept>
<code value="623615"/>
<display value="Autoimmune limbic encephalitis"/>
</concept>
<concept>
<code value="623626"/>
<display value="Paraneoplastic cerebellar degeneration"/>
</concept>
<concept>
<code value="623695"/>
<display value="MIR140-related spondyloepiphyseal dysplasia"/>
</concept>
<concept>
<code value="623789"/>
<display value="Body integrity dysphoria"/>
</concept>
<concept>
<code value="623801"/>
<display value="Acute flaccid myelitis"/>
</concept>
<concept>
<code value="624"/>
<display value="Familial multiple nevi flammei"/>
</concept>
<concept>
<code value="624166"/>
<display
value="Non-specific autoimmune supratentorial encephalitis with characteristic antibodies"/>
</concept>
<concept>
<code value="624178"/>
<display
value="Non-specific autoimmune supratentorial encephalitis without characteristic antibodies"/>
</concept>
<concept>
<code value="624190"/>
<display value="Paraneoplastic isolated brainstem encephalitis"/>
</concept>
<concept>
<code value="624199"/>
<display
value="Non-specific autoimmune brainstem encephalitis with characteristic antibodies"/>
</concept>
<concept>
<code value="624216"/>
<display
value="Non-specific autoimmune brainstem encephalitis without characteristic antibodies"/>
</concept>
<concept>
<code value="624244"/>
<display value="Postinfectious cerebellitis"/>
</concept>
<concept>
<code value="624259"/>
<display
value="Non-specific autoimmune cerebellar ataxia with characteristic antibodies"/>
</concept>
<concept>
<code value="624268"/>
<display
value="Non-specific autoimmune cerebellar ataxia without characteristic antibodies"/>
</concept>
<concept>
<code value="626"/>
<display value="Large/giant congenital melanocytic nevus"/>
</concept>
<concept>
<code value="627"/>
<display value="Nance-Horan syndrome"/>
</concept>
<concept>
<code value="628"/>
<display value="Diastrophic dysplasia"/>
</concept>
<concept>
<code value="629"/>
<display
value="Short stature due to growth hormone qualitative anomaly"/>
</concept>
<concept>
<code value="63"/>
<display value="Alport syndrome"/>
</concept>
<concept>
<code value="631"/>
<display value="Non-acquired isolated growth hormone deficiency"/>
</concept>
<concept>
<code value="631068"/>
<display value="Autosomal dominant spastic paraplegia type 80"/>
</concept>
<concept>
<code value="631073"/>
<display value="Autosomal recessive spastic paraplegia type 82"/>
</concept>
<concept>
<code value="631076"/>
<display value="Autosomal recessive spastic paraplegia type 83"/>
</concept>
<concept>
<code value="631079"/>
<display value="Autosomal recessive spastic paraplegia type 84"/>
</concept>
<concept>
<code value="631082"/>
<display value="Autosomal recessive spastic paraplegia type 85"/>
</concept>
<concept>
<code value="631085"/>
<display value="Autosomal recessive spastic paraplegia type 86"/>
</concept>
<concept>
<code value="631088"/>
<display value="Autosomal recessive spastic paraplegia type 87"/>
</concept>
<concept>
<code value="631095"/>
<display value="Spinocerebellar ataxia type 44"/>
</concept>
<concept>
<code value="631103"/>
<display value="Spinocerebellar ataxia type 48"/>
</concept>
<concept>
<code value="631106"/>
<display value="Spinocerebellar ataxia type 49"/>
</concept>
<concept>
<code value="631248"/>
<display value="Mitchell Syndrome"/>
</concept>
<concept>
<code value="631251"/>
<display value="Cancer of unknown primary site"/>
</concept>
<concept>
<code value="632"/>
<display
value="Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"/>
</concept>
<concept>
<code value="63259"/>
<display value="Iniencephaly"/>
</concept>
<concept>
<code value="63260"/>
<display value="Craniorachischisis"/>
</concept>
<concept>
<code value="632603"/>
<display
value="Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"/>
</concept>
<concept>
<code value="63269"/>
<display
value="Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"/>
</concept>
<concept>
<code value="63273"/>
<display
value="Distal myopathy with posterior leg and anterior hand involvement"/>
</concept>
<concept>
<code value="63275"/>
<display value="Pemphigoid gestationis"/>
</concept>
<concept>
<code value="633"/>
<display value="Laron syndrome"/>
</concept>
<concept>
<code value="633004"/>
<display
value="KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome"/>
</concept>
<concept>
<code value="633014"/>
<display
value="SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"/>
</concept>
<concept>
<code value="633021"/>
<display
value="SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"/>
</concept>
<concept>
<code value="633024"/>
<display
value="SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"/>
</concept>
<concept>
<code value="633028"/>
<display value="CPE-related Prader-Willi-like syndrome"/>
</concept>
<concept>
<code value="633035"/>
<display
value="Intellectual disability-early-onset cataract-microcephaly syndrome"/>
</concept>
<concept>
<code value="633076"/>
<display value="Split cord malformation, composite type"/>
</concept>
<concept>
<code value="633099"/>
<display value="PAICS deficiency"/>
</concept>
<concept>
<code value="633124"/>
<display value="Invasive scopulariopsis infection"/>
</concept>
<concept>
<code value="633211"/>
<display value="Preaxial digit brachydactyly-webbed fingers"/>
</concept>
<concept>
<code value="633228"/>
<display value="Isolated proximal femoral focal deficiency"/>
</concept>
<concept>
<code value="634"/>
<display value="Netherton syndrome"/>
</concept>
<concept>
<code value="63442"/>
<display value="Angel-shaped phalango-epiphyseal dysplasia"/>
</concept>
<concept>
<code value="63446"/>
<display value="Acrocapitofemoral dysplasia"/>
</concept>
<concept>
<code value="634461"/>
<display value="Mosaic neurofibromatosis type 1"/>
</concept>
<concept>
<code value="634475"/>
<display value="Mosaic NF2-related schwannomatosis"/>
</concept>
<concept>
<code value="634492"/>
<display value="Mosaic schwannomatosis"/>
</concept>
<concept>
<code value="634511"/>
<display value="Mosaic Legius syndrome"/>
</concept>
<concept>
<code value="63455"/>
<display value="Paraneoplastic pemphigus"/>
</concept>
<concept>
<code value="635"/>
<display value="Neuroblastoma"/>
</concept>
<concept>
<code value="636"/>
<display value="Neurofibromatosis type 1"/>
</concept>
<concept>
<code value="636941"/>
<display value="Vascular Ehlers-Danlos-polymicrogyria syndrome"/>
</concept>
<concept>
<code value="636945"/>
<display value="Invasive candidiasis"/>
</concept>
<concept>
<code value="636950"/>
<display value="Glaucomatocyclitic crisis disease"/>
</concept>
<concept>
<code value="636955"/>
<display value="Endemic pemphigus foliaceus"/>
</concept>
<concept>
<code value="636965"/>
<display value="Autosomal dominant myosin storage myopathy"/>
</concept>
<concept>
<code value="636970"/>
<display value="Autosomal recessive myosin storage myopathy"/>
</concept>
<concept>
<code value="637"/>
<display value="Full NF2-related schwannomatosis"/>
</concept>
<concept>
<code value="637013"/>
<display
value="SMARCA2-related blepharophimosis-intellectual disability syndrome"/>
</concept>
<concept>
<code value="637051"/>
<display value="Borna virus encephalitis"/>
</concept>
<concept>
<code value="637061"/>
<display value="Isolated optic nerve hypoplasia"/>
</concept>
<concept>
<code value="637064"/>
<display value="Isolated optic nerve aplasia"/>
</concept>
<concept>
<code value="638"/>
<display value="Neurofibromatosis-Noonan syndrome"/>
</concept>
<concept>
<code value="63862"/>
<display value="Schisis association"/>
</concept>
<concept>
<code value="63999"/>
<display value="IgG4-related mediastinitis"/>
</concept>
<concept>
<code value="64"/>
<display value="Alström syndrome"/>
</concept>
<concept>
<code value="640"/>
<display
value="Hereditary neuropathy with liability to pressure palsies"/>
</concept>
<concept>
<code value="641"/>
<display value="Multifocal motor neuropathy"/>
</concept>
<concept>
<code value="641350"/>
<display value="Immunotherapy induced hypophysitis"/>
</concept>
<concept>
<code value="641353"/>
<display
value="Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"/>
</concept>
<concept>
<code value="641361"/>
<display
value="Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome"/>
</concept>
<concept>
<code value="641368"/>
<display
value="Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency"/>
</concept>
<concept>
<code value="641372"/>
<display
value="B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"/>
</concept>
<concept>
<code value="641375"/>
<display value="B-lymphoblastic leukemia/lymphoma with t(17;19)"/>
</concept>
<concept>
<code value="641380"/>
<display value="PAPASH syndrome"/>
</concept>
<concept>
<code value="641385"/>
<display value="PASS syndrome"/>
</concept>
<concept>
<code value="641390"/>
<display value="PsAPASH syndrome"/>
</concept>
<concept>
<code value="641396"/>
<display value="Central nervous system tuberculosis"/>
</concept>
<concept>
<code value="641496"/>
<display value="Childhood-onset schizophrenia"/>
</concept>
<concept>
<code value="641829"/>
<display value="Neonatal compartment syndrome"/>
</concept>
<concept>
<code value="642"/>
<display value="Hereditary sensory and autonomic neuropathy type 4"/>
</concept>
<concept>
<code value="642071"/>
<display value="Primary pulmonary vein stenosis"/>
</concept>
<concept>
<code value="642085"/>
<display
value="EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity"/>
</concept>
<concept>
<code value="642099"/>
<display
value="Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"/>
</concept>
<concept>
<code value="642671"/>
<display value="Familial hyperaldosteronism type IV"/>
</concept>
<concept>
<code value="642675"/>
<display value="CHD8 overgrowth syndrome"/>
</concept>
<concept>
<code value="642691"/>
<display value="Fragile X-associated primary ovarian insufficiency"/>
</concept>
<concept>
<code value="642747"/>
<display value="PUM1-related cerebellar ataxia"/>
</concept>
<concept>
<code value="642763"/>
<display
value="Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation"/>
</concept>
<concept>
<code value="642788"/>
<display
value="Cushing syndrome due to cortisol-producing adrenocortical adenoma"/>
</concept>
<concept>
<code value="64280"/>
<display value="Childhood absence epilepsy"/>
</concept>
<concept>
<code value="642945"/>
<display value="Perrault syndrome type 1"/>
</concept>
<concept>
<code value="642954"/>
<display value="Autosomal recessive ataxia due to PEX16 deficiency"/>
</concept>
<concept>
<code value="642965"/>
<display value="Autosomal recessive ataxia due to PEX2 deficiency"/>
</concept>
<concept>
<code value="642976"/>
<display value="Perrault syndrome type 2"/>
</concept>
<concept>
<code value="643"/>
<display value="Giant axonal neuropathy"/>
</concept>
<concept>
<code value="643503"/>
<display
value="Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"/>
</concept>
<concept>
<code value="643538"/>
<display value="Hao-Fountain syndrome due to USP7 mutation"/>
</concept>
<concept>
<code value="643549"/>
<display value="Hao-Fountain syndrome"/>
</concept>
<concept>
<code value="644"/>
<display value="NARP syndrome"/>
</concept>
<concept>
<code value="645188"/>
<display value="Spinal dermal sinus"/>
</concept>
<concept>
<code value="645285"/>
<display value="Chaotic conus spinal cord lipoma"/>
</concept>
<concept>
<code value="645288"/>
<display value="Terminal extramedullary conus spinal cord lipoma"/>
</concept>
<concept>
<code value="645291"/>
<display
value="Transitional extramedullary conus spinal cord lipoma"/>
</concept>
<concept>
<code value="645294"/>
<display value="Posterior extramedullary conus spinal cord lipoma"/>
</concept>
<concept>
<code value="645297"/>
<display value="Extramedullary conus spinal cord lipoma"/>
</concept>
<concept>
<code value="645300"/>
<display value="Lipomatous non-saccular limited dorsal myeloschisis"/>
</concept>
<concept>
<code value="645310"/>
<display
value="Fibroneural non-saccular limited dorsal myeloschisis"/>
</concept>
<concept>
<code value="645322"/>
<display value="Isolated transitional filum lipoma"/>
</concept>
<concept>
<code value="645325"/>
<display value="Isolated filum lipoma"/>
</concept>
<concept>
<code value="645334"/>
<display value="Retained medullary cord"/>
</concept>
<concept>
<code value="645337"/>
<display value="Terminal myelocystocele"/>
</concept>
<concept>
<code value="645340"/>
<display value="Non-terminal myelocystocele"/>
</concept>
<concept>
<code value="645343"/>
<display value="Non-saccular limited dorsal myeloschisis"/>
</concept>
<concept>
<code value="645350"/>
<display value="Segmental arterial mediolysis"/>
</concept>
<concept>
<code value="645354"/>
<display value="Saccular limited dorsal myeloschisis"/>
</concept>
<concept>
<code value="645359"/>
<display value="Intramedullary non-dysraphic spinal cord lipoma"/>
</concept>
<concept>
<code value="645362"/>
<display value="Dorsal spinal cord lipoma"/>
</concept>
<concept>
<code value="645378"/>
<display value="Myelic limited dorsal malformation"/>
</concept>
<concept>
<code value="645383"/>
<display value="True myelomeningocele"/>
</concept>
<concept>
<code value="645388"/>
<display value="Hemi-myelomeningocele"/>
</concept>
<concept>
<code value="645393"/>
<display value="Hemi-myeloschisis"/>
</concept>
<concept>
<code value="645398"/>
<display value="Myeloschisis"/>
</concept>
<concept>
<code value="645401"/>
<display value="True myeloschisis"/>
</concept>
<concept>
<code value="64542"/>
<display value="Acrofacial dysostosis, Kennedy-Teebi type"/>
</concept>
<concept>
<code value="645613"/>
<display value="Classical dermatomyositis"/>
</concept>
<concept>
<code value="645617"/>
<display value="Amyopathic dermatomyositis"/>
</concept>
<concept>
<code value="645626"/>
<display value="Adermatopathic dermatomyositis"/>
</concept>
<concept>
<code value="645749"/>
<display value="Congenital esophageal stenosis"/>
</concept>
<concept>
<code value="645793"/>
<display value="Spontaneous intestinal perforation"/>
</concept>
<concept>
<code value="645807"/>
<display value="Primary tuberculous lymphadenitis"/>
</concept>
<concept>
<code value="645814"/>
<display value="Primary pulmonary tuberculosis"/>
</concept>
<concept>
<code value="645822"/>
<display value="Primary bone and joint tuberculosis"/>
</concept>
<concept>
<code value="645849"/>
<display value="Primary cutaneous tuberculosis"/>
</concept>
<concept>
<code value="645854"/>
<display value="Multifocal tuberculosis"/>
</concept>
<concept>
<code value="645859"/>
<display value="Primary tuberculosis of the digestive system"/>
</concept>
<concept>
<code value="645874"/>
<display value="Primary genito-urinary tuberculosis"/>
</concept>
<concept>
<code value="646"/>
<display value="Niemann-Pick disease type C"/>
</concept>
<concept>
<code value="646113"/>
<display value="Intermediate collagen VI-related muscular dystrophy"/>
</concept>
<concept>
<code value="646136"/>
<display value="Dysplastic cortical hyperostosis, Al-Gazali type"/>
</concept>
<concept>
<code value="646139"/>
<display value="Dysplastic cortical hyperostosis"/>
</concept>
<concept>
<code value="646278"/>
<display
value="CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome"/>
</concept>
<concept>
<code value="64686"/>
<display value="Tolosa-Hunt syndrome"/>
</concept>
<concept>
<code value="64692"/>
<display value="Bartonella bacilliformis infection"/>
</concept>
<concept>
<code value="64694"/>
<display value="Trench fever"/>
</concept>
<concept>
<code value="647"/>
<display value="Nijmegen breakage syndrome"/>
</concept>
<concept>
<code value="64720"/>
<display value="Leiomyosarcoma"/>
</concept>
<concept>
<code value="64722"/>
<display value="Granulomatous mastitis"/>
</concept>
<concept>
<code value="64734"/>
<display value="Iridocorneal endothelial syndrome"/>
</concept>
<concept>
<code value="64739"/>
<display value="Ovarian hyperstimulation syndrome"/>
</concept>
<concept>
<code value="64741"/>
<display value="Pulmonary blastoma"/>
</concept>
<concept>
<code value="64742"/>
<display value="Pleuropulmonary blastoma"/>
</concept>
<concept>
<code value="64743"/>
<display value="Hepatoportal sclerosis"/>
</concept>
<concept>
<code value="64744"/>
<display value="IgG4-related thyroid disease"/>
</concept>
<concept>
<code value="64745"/>
<display
value="Pruritic urticarial papules and plaques of pregnancy"/>
</concept>
<concept>
<code value="64748"/>
<display value="Dejerine-Sottas syndrome"/>
</concept>
<concept>
<code value="64751"/>
<display value="Hereditary motor and sensory neuropathy type 5"/>
</concept>
<concept>
<code value="64752"/>
<display value="Hereditary sensory and autonomic neuropathy type 5"/>
</concept>
<concept>
<code value="64753"/>
<display
value="Spinocerebellar ataxia with axonal neuropathy type 2"/>
</concept>
<concept>
<code value="64754"/>
<display value="Nevus comedonicus syndrome"/>
</concept>
<concept>
<code value="64755"/>
<display value="Becker nevus syndrome"/>
</concept>
<concept>
<code value="647667"/>
<display value="Mandibuloacral dysplasia associated to MTX2"/>
</concept>
<concept>
<code value="647676"/>
<display value="Multiple epiphyseal dysplasia type 7"/>
</concept>
<concept>
<code value="647681"/>
<display
value="Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome"/>
</concept>
<concept>
<code value="647772"/>
<display
value="Isolated primary pigmented nodular adrenocortical disease"/>
</concept>
<concept>
<code value="647782"/>
<display value="Isolated micronodular adrenocortical disease"/>
</concept>
<concept>
<code value="647788"/>
<display
value="Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"/>
</concept>
<concept>
<code value="647794"/>
<display value="Isolated persistent urogenital sinus"/>
</concept>
<concept>
<code value="647799"/>
<display
value="MYT1L-related developmental delay-intellectual disability-obesity syndrome"/>
</concept>
<concept>
<code value="647804"/>
<display value="Combined immunodeficiency due to FCHO1 deficiency"/>
</concept>
<concept>
<code value="647811"/>
<display value="Cardiac-urogenital syndrome"/>
</concept>
<concept>
<code value="647815"/>
<display value="Keratitis fugax hereditaria"/>
</concept>
<concept>
<code value="647823"/>
<display value="Idiopathic pregnancy-associated osteoporosis"/>
</concept>
<concept>
<code value="647834"/>
<display value="SLC40A1-related hemochromatosis"/>
</concept>
<concept>
<code value="647916"/>
<display value="Conjoined twins"/>
</concept>
<concept>
<code value="648"/>
<display value="Noonan syndrome"/>
</concept>
<concept>
<code value="648562"/>
<display value="Ferroportin disease"/>
</concept>
<concept>
<code value="648581"/>
<display value="Digenic hemochromatosis"/>
</concept>
<concept>
<code value="648665"/>
<display value="Infectious scleritis"/>
</concept>
<concept>
<code value="648675"/>
<display value="Idiopathic scleritis"/>
</concept>
<concept>
<code value="648681"/>
<display value="Immune-mediated scleritis"/>
</concept>
<concept>
<code value="648684"/>
<display value="Central retinal artery occlusion"/>
</concept>
<concept>
<code value="648919"/>
<display value="Idiopathic catatonia"/>
</concept>
<concept>
<code value="648992"/>
<display value="Non-syndromic bridging bronchus"/>
</concept>
<concept>
<code value="649"/>
<display value="Norrie disease"/>
</concept>
<concept>
<code value="649010"/>
<display value="Non-syndromic congenital bronchial atresia"/>
</concept>
<concept>
<code value="649029"/>
<display value="Isolated left bronchial isomerism"/>
</concept>
<concept>
<code value="65"/>
<display value="Leber congenital amaurosis"/>
</concept>
<concept>
<code value="650"/>
<display value="LCAT deficiency"/>
</concept>
<concept>
<code value="650077"/>
<display value="Genetic central precocious puberty in female"/>
</concept>
<concept>
<code value="650082"/>
<display value="Secondary central precocious puberty in female"/>
</concept>
<concept>
<code value="650087"/>
<display value="Primary central precocious puberty in male"/>
</concept>
<concept>
<code value="650092"/>
<display value="Secondary central precocious puberty in male"/>
</concept>
<concept>
<code value="650097"/>
<display value="Genetic central precocious puberty in male"/>
</concept>
<concept>
<code value="650102"/>
<display value="Non-genetic central precocious puberty in male"/>
</concept>
<concept>
<code value="652"/>
<display value="Multiple endocrine neoplasia type 1"/>
</concept>
<concept>
<code value="652487"/>
<display
value="Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome"/>
</concept>
<concept>
<code value="652514"/>
<display
value="Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation"/>
</concept>
<concept>
<code value="652519"/>
<display
value="Cleft palate-congenital heart defect-intellectual disability syndrome"/>
</concept>
<concept>
<code value="652522"/>
<display
value="Periodic fever-immunodeficiency-thrombocytopenia syndrome"/>
</concept>
<concept>
<code value="652528"/>
<display value="Non-syndromic supernumerary kidneys"/>
</concept>
<concept>
<code value="652532"/>
<display
value="Adult-onset progressive leukoencephalopathy-early-onset deafness"/>
</concept>
<concept>
<code value="652650"/>
<display
value="Nodal T-follicular helper cell lymphoma, follicular type"/>
</concept>
<concept>
<code value="652658"/>
<display
value="Monomorphic epitheliotropic intestinal T-cell lymphoma"/>
</concept>
<concept>
<code value="652668"/>
<display value="Primary superior vena cava aneurysm"/>
</concept>
<concept>
<code value="652678"/>
<display value="Primary inferior vena cava aneurysm"/>
</concept>
<concept>
<code value="652681"/>
<display value="Idiopathic subglottic stenosis"/>
</concept>
<concept>
<code value="65282"/>
<display value="Carvajal syndrome"/>
</concept>
<concept>
<code value="65283"/>
<display value="Timothy syndrome"/>
</concept>
<concept>
<code value="65284"/>
<display value="Biotin-thiamine-responsive basal ganglia disease"/>
</concept>
<concept>
<code value="65285"/>
<display value="Lhermitte-Duclos disease"/>
</concept>
<concept>
<code value="65286"/>
<display value="3q29 microdeletion syndrome"/>
</concept>
<concept>
<code value="65287"/>
<display value="Beta-ureidopropionase deficiency"/>
</concept>
<concept>
<code value="65288"/>
<display
value="Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"/>
</concept>
<concept>
<code value="653"/>
<display value="Multiple endocrine neoplasia type 2"/>
</concept>
<concept>
<code value="653698"/>
<display value="Lymphocytic mastitis"/>
</concept>
<concept>
<code value="653709"/>
<display value="Cone rod dystrophy-short stature syndrome"/>
</concept>
<concept>
<code value="653712"/>
<display value="CHD4-related neurodevelopmental disorder"/>
</concept>
<concept>
<code value="653722"/>
<display value="Digenic Alport syndrome"/>
</concept>
<concept>
<code value="653725"/>
<display
value="Autosomal recessive limb-girdle muscular dystrophy, type 28"/>
</concept>
<concept>
<code value="653728"/>
<display
value="Congenital insensitivity to pain syndrome, Marsili type"/>
</concept>
<concept>
<code value="653751"/>
<display
value="X-linked combined immunodeficiency due to SASH3 deficiency"/>
</concept>
<concept>
<code value="653767"/>
<display value="Jansen-de Vries syndrome"/>
</concept>
<concept>
<code value="653880"/>
<display
value="Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"/>
</concept>
<concept>
<code value="654"/>
<display value="Nephroblastoma"/>
</concept>
<concept>
<code value="655"/>
<display value="Nephronophthisis"/>
</concept>
<concept>
<code value="656"/>
<display value="Hereditary steroid-resistant nephrotic syndrome"/>
</concept>
<concept>
<code value="656071"/>
<display value="Atrophic papulosis"/>
</concept>
<concept>
<code value="656085"/>
<display value="Benign atrophic papulosis"/>
</concept>
<concept>
<code value="656126"/>
<display value="Segmental spinal dysgenesis"/>
</concept>
<concept>
<code value="656130"/>
<display
value="PBX1-related congenital anomalies of kidney-urinary tract syndrome"/>
</concept>
<concept>
<code value="656135"/>
<display value="Intellectual disability-cupped ears syndrome"/>
</concept>
<concept>
<code value="656279"/>
<display value="1p36.33 duplication syndrome"/>
</concept>
<concept>
<code value="656283"/>
<display
value="Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency"/>
</concept>
<concept>
<code value="656300"/>
<display
value="Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency"/>
</concept>
<concept>
<code value="656313"/>
<display
value="Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency"/>
</concept>
<concept>
<code value="656326"/>
<display
value="Autosomal recessive combined immunodeficiency due to IL6R deficiency"/>
</concept>
<concept>
<code value="656417"/>
<display value="Embryonal tumor with multilayered rosettes"/>
</concept>
<concept>
<code value="65681"/>
<display value="Vaginal atresia"/>
</concept>
<concept>
<code value="65682"/>
<display value="Benign recurrent intrahepatic cholestasis"/>
</concept>
<concept>
<code value="65683"/>
<display value="Isolated focal cortical dysplasia"/>
</concept>
<concept>
<code value="65684"/>
<display value="Monomelic amyotrophy"/>
</concept>
<concept>
<code value="656912"/>
<display
value="Autosomal dominant combined immunodeficiency due to ERBIN deficiency"/>
</concept>
<concept>
<code value="65720"/>
<display value="Arthrogryposis-severe scoliosis syndrome"/>
</concept>
<concept>
<code value="65743"/>
<display value="Autosomal dominant multiple pterygium syndrome"/>
</concept>
<concept>
<code value="65748"/>
<display value="Multiple self-healing squamous epithelioma"/>
</concept>
<concept>
<code value="65759"/>
<display value="Carpenter syndrome"/>
</concept>
<concept>
<code value="658540"/>
<display value="16q22 deletion syndrome"/>
</concept>
<concept>
<code value="658549"/>
<display value="Idiopathic small fibers neuropathy"/>
</concept>
<concept>
<code value="658574"/>
<display value="Isolated pulmonary artery sling"/>
</concept>
<concept>
<code value="658584"/>
<display value="Rowell syndrome"/>
</concept>
<concept>
<code value="658590"/>
<display value="Eyelid sebaceous carcinoma"/>
</concept>
<concept>
<code value="658595"/>
<display value="DNMT3A-related microcephalic dwarfism"/>
</concept>
<concept>
<code value="658602"/>
<display value="Transplant-related bronchiolitis obliterans"/>
</concept>
<concept>
<code value="658612"/>
<display value="Non-transplant-related bronchiolitis obliterans"/>
</concept>
<concept>
<code value="658778"/>
<display value="COQ7-related distal hereditary motor neuropathy"/>
</concept>
<concept>
<code value="658805"/>
<display
value="Greig cephalopolysyndactyly-contiguous gene syndrome"/>
</concept>
<concept>
<code value="658810"/>
<display value="Atrophoderma of Pasini and Pierini"/>
</concept>
<concept>
<code value="658813"/>
<display
value="Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency"/>
</concept>
<concept>
<code value="658843"/>
<display
value="Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="658909"/>
<display value="Fasciolopsiasis"/>
</concept>
<concept>
<code value="658913"/>
<display value="Paragonimiasis"/>
</concept>
<concept>
<code value="658917"/>
<display value="Clonorchiasis"/>
</concept>
<concept>
<code value="658946"/>
<display
value="Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency"/>
</concept>
<concept>
<code value="658951"/>
<display
value="Early-onset immune dysregulation due to DOCK11 complete deficiency"/>
</concept>
<concept>
<code value="659"/>
<display
value="Mutilating palmoplantar keratoderma with periorificial keratotic plaques"/>
</concept>
<concept>
<code value="659396"/>
<display value="Cohen-Gibson syndrome"/>
</concept>
<concept>
<code value="659463"/>
<display value="Imagawa-Matsumoto syndrome"/>
</concept>
<concept>
<code value="659609"/>
<display
value="Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome"/>
</concept>
<concept>
<code value="659626"/>
<display value="Single isolated optic neuritis"/>
</concept>
<concept>
<code value="659634"/>
<display value="Relapsing isolated optic neuritis"/>
</concept>
<concept>
<code value="659642"/>
<display value="Rauch-Steindl syndrome"/>
</concept>
<concept>
<code value="659672"/>
<display value="Harderoporphyria"/>
</concept>
<concept>
<code value="659702"/>
<display
value="Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome"/>
</concept>
<concept>
<code value="659707"/>
<display value="Yersinia pseudotuberculosis infection"/>
</concept>
<concept>
<code value="659744"/>
<display value="Ocular surface squamous neoplasia"/>
</concept>
<concept>
<code value="659756"/>
<display value="Oroya fever"/>
</concept>
<concept>
<code value="659759"/>
<display value="Verruga peruana"/>
</concept>
<concept>
<code value="659873"/>
<display
value="Wormian bones-micrognathia-abnormal dentition-progeroid syndrome"/>
</concept>
<concept>
<code value="659904"/>
<display
value="Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome"/>
</concept>
<concept>
<code value="659908"/>
<display value="Glanders"/>
</concept>
<concept>
<code value="659975"/>
<display
value="Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="660"/>
<display value="Omphalocele"/>
</concept>
<concept>
<code value="660012"/>
<display
value="Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation"/>
</concept>
<concept>
<code value="660017"/>
<display
value="Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome"/>
</concept>
<concept>
<code value="660021"/>
<display
value="Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="660053"/>
<display value="Psittacosis"/>
</concept>
<concept>
<code value="661"/>
<display value="Congenital central hypoventilation syndrome"/>
</concept>
<concept>
<code value="661412"/>
<display
value="Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency"/>
</concept>
<concept>
<code value="661526"/>
<display value="MBD4-related tumor predisposition syndrome"/>
</concept>
<concept>
<code value="662"/>
<display value="Lymphedema with yellow nails"/>
</concept>
<concept>
<code value="662169"/>
<display value="Phelan-McDermid syndrome due to 22q13.3 deletion"/>
</concept>
<concept>
<code value="662172"/>
<display value="Phelan-McDermid syndrome due to SHANK3 mutation"/>
</concept>
<concept>
<code value="662175"/>
<display
value="Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="662179"/>
<display
value="Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="662184"/>
<display
value="Congenital muscular dystrophy-cataract-intellectual disability syndrome"/>
</concept>
<concept>
<code value="662189"/>
<display
value="Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome"/>
</concept>
<concept>
<code value="662198"/>
<display
value="Neurodevelopmental delay-intellectual disability-skeletal defects syndrome"/>
</concept>
<concept>
<code value="662207"/>
<display
value="Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome"/>
</concept>
<concept>
<code value="662216"/>
<display value="Mucopolysaccharidosis type 10"/>
</concept>
<concept>
<code value="662229"/>
<display value="Episodic memory defect leukoencephalopathy"/>
</concept>
<concept>
<code value="662234"/>
<display
value="Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome"/>
</concept>
<concept>
<code value="662240"/>
<display value="Frey syndrome"/>
</concept>
<concept>
<code value="662255"/>
<display value="Grisel syndrome"/>
</concept>
<concept>
<code value="662367"/>
<display value="NESCAV syndrome"/>
</concept>
<concept>
<code value="662376"/>
<display value="Isolated gastric duplication"/>
</concept>
<concept>
<code value="662388"/>
<display value="Isolated gallbladder duplication"/>
</concept>
<concept>
<code value="662392"/>
<display value="Isolated colonic duplication"/>
</concept>
<concept>
<code value="662405"/>
<display value="Isolated pyloric duplication"/>
</concept>
<concept>
<code value="662456"/>
<display value="Isolated small intestine duplication"/>
</concept>
<concept>
<code value="662473"/>
<display value="Isolated duodenal duplication"/>
</concept>
<concept>
<code value="662480"/>
<display value="Isolated jejuno-ileal duplication"/>
</concept>
<concept>
<code value="662721"/>
<display value="Placenta accreta spectrum disorder"/>
</concept>
<concept>
<code value="662762"/>
<display
value="Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome"/>
</concept>
<concept>
<code value="662786"/>
<display value="Vasa previa"/>
</concept>
<concept>
<code value="662829"/>
<display
value="Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome"/>
</concept>
<concept>
<code value="662934"/>
<display value="Acute megakaryoblastic leukemia in adult"/>
</concept>
<concept>
<code value="663"/>
<display
value="Mitochondrial DNA-related progressive external ophthalmoplegia"/>
</concept>
<concept>
<code value="664"/>
<display value="Ornithine transcarbamylase deficiency"/>
</concept>
<concept>
<code value="664372"/>
<display value="Soft and hard cleft palate"/>
</concept>
<concept>
<code value="664377"/>
<display value="MGP-related spondyloepiphyseal dysplasia"/>
</concept>
<concept>
<code value="664401"/>
<display
value="Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation"/>
</concept>
<concept>
<code value="664404"/>
<display value="6q25.1 microdeletion syndrome"/>
</concept>
<concept>
<code value="664410"/>
<display
value="Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="664416"/>
<display
value="Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation"/>
</concept>
<concept>
<code value="664430"/>
<display
value="Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome"/>
</concept>
<concept>
<code value="664438"/>
<display
value="Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="664500"/>
<display value="Hermansky-Pudlak syndrome due to AP3B1 deficiency"/>
</concept>
<concept>
<code value="664511"/>
<display
value="Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency"/>
</concept>
<concept>
<code value="664699"/>
<display
value="EBV-induced lymphoproliferative disease due to RASGRP1 deficiency"/>
</concept>
<concept>
<code value="664711"/>
<display
value="EBV-induced lymphoproliferative disease due to PRKCD deficiency"/>
</concept>
<concept>
<code value="664726"/>
<display
value="EBV-induced lymphoproliferative disease due to CD137 deficiency"/>
</concept>
<concept>
<code value="664729"/>
<display
value="EBV-induced lymphoproliferative disease due to TET2 deficiency"/>
</concept>
<concept>
<code value="664787"/>
<display value="Nicolau syndrome"/>
</concept>
<concept>
<code value="664901"/>
<display value="Trigeminal trophic syndrome"/>
</concept>
<concept>
<code value="664912"/>
<display value="Neonatal renal venous thrombosis"/>
</concept>
<concept>
<code value="664923"/>
<display
value="Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome"/>
</concept>
<concept>
<code value="665044"/>
<display value="Common arterial trunk with aortic dominance"/>
</concept>
<concept>
<code value="665058"/>
<display
value="Common arterial trunk with pulmonary dominance and interrupted aortic arch"/>
</concept>
<concept>
<code value="66518"/>
<display value="Short fifth metacarpals-insulin resistance syndrome"/>
</concept>
<concept>
<code value="66529"/>
<display value="Tako-Tsubo cardiomyopathy"/>
</concept>
<concept>
<code value="666"/>
<display value="Osteogenesis imperfecta"/>
</concept>
<concept>
<code value="66624"/>
<display value="PANDAS"/>
</concept>
<concept>
<code value="66625"/>
<display value="Cerebrooculonasal syndrome"/>
</concept>
<concept>
<code value="66627"/>
<display value="Tenosynovial giant cell tumor"/>
</concept>
<concept>
<code value="66628"/>
<display value="Obesity due to congenital leptin deficiency"/>
</concept>
<concept>
<code value="66629"/>
<display value="Goldberg-Shprintzen megacolon syndrome"/>
</concept>
<concept>
<code value="66630"/>
<display value="Congenital pseudoarthrosis of the clavicle"/>
</concept>
<concept>
<code value="66631"/>
<display value="CEDNIK syndrome"/>
</concept>
<concept>
<code value="66633"/>
<display
value="Sensorineural hearing loss-early graying-essential tremor syndrome"/>
</concept>
<concept>
<code value="66634"/>
<display value="Dilated cardiomyopathy with ataxia"/>
</concept>
<concept>
<code value="66637"/>
<display value="Diaphanospondylodysostosis"/>
</concept>
<concept>
<code value="66661"/>
<display value="Mast cell sarcoma"/>
</concept>
<concept>
<code value="66662"/>
<display value="Extracutaneous mastocytoma"/>
</concept>
<concept>
<code value="667"/>
<display value="Autosomal recessive malignant osteopetrosis"/>
</concept>
<concept>
<code value="667589"/>
<display value="Isolated congenital femoral bifurcation"/>
</concept>
<concept>
<code value="667662"/>
<display
value="Breast implant-associated anaplastic large cell lymphoma"/>
</concept>
<concept>
<code value="667678"/>
<display value="Intraoral basal cell carcinoma"/>
</concept>
<concept>
<code value="668"/>
<display value="Osteosarcoma"/>
</concept>
<concept>
<code value="67"/>
<display value="Amoebiasis due to Entamoeba histolytica"/>
</concept>
<concept>
<code value="67036"/>
<display value="Autosomal dominant optic atrophy and cataract"/>
</concept>
<concept>
<code value="67038"/>
<display value="B-cell chronic lymphocytic leukemia"/>
</concept>
<concept>
<code value="67039"/>
<display value="Segmental odontomaxillary dysplasia"/>
</concept>
<concept>
<code value="67041"/>
<display value="Hyaluronidase deficiency"/>
</concept>
<concept>
<code value="67042"/>
<display value="Late-onset retinal degeneration"/>
</concept>
<concept>
<code value="67043"/>
<display value="Amoebic keratitis"/>
</concept>
<concept>
<code value="67044"/>
<display
value="Thrombocytopenia with congenital dyserythropoietic anemia"/>
</concept>
<concept>
<code value="67045"/>
<display
value="X-linked intellectual disability with isolated growth hormone deficiency"/>
</concept>
<concept>
<code value="67046"/>
<display value="3-methylglutaconic aciduria type 1"/>
</concept>
<concept>
<code value="67047"/>
<display value="3-methylglutaconic aciduria type 3"/>
</concept>
<concept>
<code value="67048"/>
<display value="3-methylglutaconic aciduria type 4"/>
</concept>
<concept>
<code value="672"/>
<display value="Pallister-Hall syndrome"/>
</concept>
<concept>
<code value="672979"/>
<display
value="Craniosynostosis-facial dysmorphism-brachydactyly syndrome"/>
</concept>
<concept>
<code value="672985"/>
<display
value="Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome"/>
</concept>
<concept>
<code value="673"/>
<display value="Malaria"/>
</concept>
<concept>
<code value="673525"/>
<display value="Intravascular papillary endothelial hyperplasia"/>
</concept>
<concept>
<code value="673538"/>
<display value="Littoral cell hemangioma of the spleen"/>
</concept>
<concept>
<code value="673543"/>
<display value="Papillary hemangioma"/>
</concept>
<concept>
<code value="673556"/>
<display value="Pseudomyogenic hemangioendothelioma"/>
</concept>
<concept>
<code value="673568"/>
<display value="Eccrine angiomatous hamartoma"/>
</concept>
<concept>
<code value="673574"/>
<display value="Reactive angioendotheliomatosis"/>
</concept>
<concept>
<code value="673580"/>
<display value="Classic pilocytic astrocytoma"/>
</concept>
<concept>
<code value="673585"/>
<display
value="Pilocytic astrocytoma with histological features of anaplasia"/>
</concept>
<concept>
<code value="674"/>
<display value="Accessory pancreas"/>
</concept>
<concept>
<code value="674653"/>
<display
value="Actinomyopathy-associated syndromic thrombocytopenia"/>
</concept>
<concept>
<code value="674762"/>
<display
value="Early-onset autoinflammatory syndrome due to A20 haploinsufficiency"/>
</concept>
<concept>
<code value="674924"/>
<display value="Isolated retinal racemose hemangioma"/>
</concept>
<concept>
<code value="674930"/>
<display value="Perifoveal exudative vascular anomalous complex"/>
</concept>
<concept>
<code value="674935"/>
<display value="Torpedo Maculopathy"/>
</concept>
<concept>
<code value="674943"/>
<display value="Isolated angioid streaks"/>
</concept>
<concept>
<code value="674947"/>
<display value="Diffuse unilateral subacute neuroretinitis"/>
</concept>
<concept>
<code value="674953"/>
<display value="Multiple evanescent white dot syndrome"/>
</concept>
<concept>
<code value="674958"/>
<display value="Stellate multiform amelanotic choroidopathy"/>
</concept>
<concept>
<code value="674965"/>
<display value="Choroidal osteoma"/>
</concept>
<concept>
<code value="674968"/>
<display
value="Bilateral diffuse uveal melanocytic proliferation disease"/>
</concept>
<concept>
<code value="675"/>
<display value="Annular pancreas"/>
</concept>
<concept>
<code value="675216"/>
<display value="Spinocerebellar ataxia type 27B"/>
</concept>
<concept>
<code value="675359"/>
<display value="Anastomosing haemangioma"/>
</concept>
<concept>
<code value="675362"/>
<display value="Hobnail hemangioma"/>
</concept>
<concept>
<code value="675369"/>
<display value="Microvenular haemangioma"/>
</concept>
<concept>
<code value="675380"/>
<display value="Isolated segmental infantile hemangioma"/>
</concept>
<concept>
<code value="675396"/>
<display value="Epithelioid hemangioma"/>
</concept>
<concept>
<code value="675404"/>
<display value="May-Thurner syndrome"/>
</concept>
<concept>
<code value="675597"/>
<display value="Acquired elastotic haemangioma"/>
</concept>
<concept>
<code value="675628"/>
<display
value="TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome"/>
</concept>
<concept>
<code value="675767"/>
<display
value="Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency"/>
</concept>
<concept>
<code value="675775"/>
<display
value="Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome"/>
</concept>
<concept>
<code value="675782"/>
<display
value="Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN"/>
</concept>
<concept>
<code value="675814"/>
<display value="Adenomatoid tumour of the pleura"/>
</concept>
<concept>
<code value="675822"/>
<display
value="Well-differentiated papillary mesothelial tumour of the pleura"/>
</concept>
<concept>
<code value="675833"/>
<display value="Localized pleural mesothelioma"/>
</concept>
<concept>
<code value="675837"/>
<display value="Diffused pleural mesothelioma"/>
</concept>
<concept>
<code value="675841"/>
<display value="Pleural mesothelioma in situ"/>
</concept>
<concept>
<code value="675976"/>
<display value="Adenomatoid tumour of the peritoneum"/>
</concept>
<concept>
<code value="676"/>
<display value="Autosomal dominant hereditary chronic pancreatitis"/>
</concept>
<concept>
<code value="676033"/>
<display
value="Well-differentiated papillary mesothelial tumour of the peritoneum"/>
</concept>
<concept>
<code value="676036"/>
<display value="Peritoneal mesothelioma in situ"/>
</concept>
<concept>
<code value="676039"/>
<display
value="Combined immunodeficiency due to FOXN1 haploinsufficiency"/>
</concept>
<concept>
<code value="676125"/>
<display
value="X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency"/>
</concept>
<concept>
<code value="677"/>
<display value="Pancreatoblastoma"/>
</concept>
<concept>
<code value="678"/>
<display value="Papillon-Lefèvre syndrome"/>
</concept>
<concept>
<code value="679"/>
<display value="Malignant atrophic papulosis"/>
</concept>
<concept>
<code value="68"/>
<display value="Amoebiasis due to free-living amoebae"/>
</concept>
<concept>
<code value="681"/>
<display value="Hypokalemic periodic paralysis"/>
</concept>
<concept>
<code value="682"/>
<display value="Hyperkalemic periodic paralysis"/>
</concept>
<concept>
<code value="683"/>
<display value="Progressive supranuclear palsy"/>
</concept>
<concept>
<code value="684"/>
<display value="Paramyotonia congenita of Von Eulenburg"/>
</concept>
<concept>
<code value="684216"/>
<display
value="Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome"/>
</concept>
<concept>
<code value="684226"/>
<display
value="Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome"/>
</concept>
<concept>
<code value="684232"/>
<display
value="Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="684240"/>
<display
value="Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome"/>
</concept>
<concept>
<code value="684247"/>
<display value="Isolated growth hormone deficiency type IV"/>
</concept>
<concept>
<code value="684290"/>
<display value="Hypertrophic olivary degeneration"/>
</concept>
<concept>
<code value="684305"/>
<display value="Neurooculocardiogenitourinary syndrome"/>
</concept>
<concept>
<code value="684742"/>
<display value="2q13 microdeletion syndrome"/>
</concept>
<concept>
<code value="684752"/>
<display value="Isolated anal canal duplication"/>
</concept>
<concept>
<code value="685004"/>
<display value="Primary pericardial mesothelioma"/>
</concept>
<concept>
<code value="685010"/>
<display value="Mesothelioma of the tunica vaginalis"/>
</concept>
<concept>
<code value="685017"/>
<display value="Combined immunodeficiency due to TBX1 deficiency"/>
</concept>
<concept>
<code value="685067"/>
<display
value="Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome"/>
</concept>
<concept>
<code value="685082"/>
<display value="Pediatric acute respiratory distress syndrome"/>
</concept>
<concept>
<code value="686462"/>
<display value="Non-fibrotic hypersensitivity pneumonitis"/>
</concept>
<concept>
<code value="686465"/>
<display value="Fibrotic hypersensitivity pneumonitis"/>
</concept>
<concept>
<code value="686468"/>
<display
value="Post 5-alpha-reductase inhibitors treatment syndrome"/>
</concept>
<concept>
<code value="686475"/>
<display
value="Post-selective serotonin reuptake inhibitor sexual dysfunction"/>
</concept>
<concept>
<code value="686482"/>
<display
value="BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome"/>
</concept>
<concept>
<code value="686488"/>
<display
value="RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome"/>
</concept>
<concept>
<code value="686495"/>
<display
value="MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome"/>
</concept>
<concept>
<code value="686556"/>
<display value="Isolated congenital cholesteatoma of the middle ear"/>
</concept>
<concept>
<code value="686999"/>
<display
value="Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome"/>
</concept>
<concept>
<code value="687424"/>
<display
value="ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion"/>
</concept>
<concept>
<code value="687695"/>
<display value="10p13-p14 deletion syndrome"/>
</concept>
<concept>
<code value="687730"/>
<display value="Unifocal Langerhans cell histiocytosis"/>
</concept>
<concept>
<code value="687733"/>
<display value="Pulmonary Langerhans cell histiocytosis"/>
</concept>
<concept>
<code value="687738"/>
<display
value="Single-system multifocal Langerhans cell histiocytosis"/>
</concept>
<concept>
<code value="687741"/>
<display value="Multisystem Langerhans cell histiocytosis"/>
</concept>
<concept>
<code value="688523"/>
<display value="Splenic venous malformation"/>
</concept>
<concept>
<code value="688543"/>
<display
value="Reticular dysgenesis-like severe combined immunodeficiency"/>
</concept>
<concept>
<code value="688581"/>
<display
value="Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome"/>
</concept>
<concept>
<code value="688594"/>
<display value="Combined immunodeficiency due to RELB deficiency"/>
</concept>
<concept>
<code value="688642"/>
<display value="Turnpenny-Fry syndrome"/>
</concept>
<concept>
<code value="688649"/>
<display value="Isolated adrenal medullary hyperplasia"/>
</concept>
<concept>
<code value="688995"/>
<display value="Scarlet fever"/>
</concept>
<concept>
<code value="689001"/>
<display value="Isolated spontaneous cervical artery dissection"/>
</concept>
<concept>
<code value="689021"/>
<display
value="Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome"/>
</concept>
<concept>
<code value="689231"/>
<display value="IFIH1-related hereditary spastic paraplegia"/>
</concept>
<concept>
<code value="689234"/>
<display value="RNASEH2B-related hereditary spastic paraplegia"/>
</concept>
<concept>
<code value="689397"/>
<display value="Poirier-Bienvenu neurodevelopmental syndrome"/>
</concept>
<concept>
<code value="689401"/>
<display value="Acquired hypothalamic obesity"/>
</concept>
<concept>
<code value="689408"/>
<display value="Shashi-Pena syndrome"/>
</concept>
<concept>
<code value="689422"/>
<display value="Okur-Chung neurodevelopmental syndrome"/>
</concept>
<concept>
<code value="689430"/>
<display value="Adenoid ameloblastoma"/>
</concept>
<concept>
<code value="689822"/>
<display value="Structural heart defects-renal anomalies syndrome"/>
</concept>
<concept>
<code value="689829"/>
<display
value="Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome"/>
</concept>
<concept>
<code value="69061"/>
<display value="Idiopathic steroid-sensitive nephrotic syndrome"/>
</concept>
<concept>
<code value="69063"/>
<display
value="Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"/>
</concept>
<concept>
<code value="69076"/>
<display value="Familial renal glucosuria"/>
</concept>
<concept>
<code value="69077"/>
<display value="Rhabdoid tumor"/>
</concept>
<concept>
<code value="69078"/>
<display value="Liposarcoma"/>
</concept>
<concept>
<code value="69082"/>
<display value="Odonto-tricho-ungual-digito-palmar syndrome"/>
</concept>
<concept>
<code value="69083"/>
<display
value="Ectodermal dysplasia with natal teeth, Turnpenny type"/>
</concept>
<concept>
<code value="69084"/>
<display value="Pure hair and nail ectodermal dysplasia"/>
</concept>
<concept>
<code value="69085"/>
<display value="Limb-mammary syndrome"/>
</concept>
<concept>
<code value="69087"/>
<display value="Naegeli-Franceschetti-Jadassohn syndrome"/>
</concept>
<concept>
<code value="69088"/>
<display
value="Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"/>
</concept>
<concept>
<code value="69125"/>
<display value="Anonychia with flexural pigmentation"/>
</concept>
<concept>
<code value="69126"/>
<display value="PAPA syndrome"/>
</concept>
<concept>
<code value="692173"/>
<display value="Marbach-Schaaf neurodevelopmental syndrome"/>
</concept>
<concept>
<code value="692193"/>
<display
value="CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome"/>
</concept>
<concept>
<code value="692256"/>
<display value="Isolated anogenital granulomatosis"/>
</concept>
<concept>
<code value="692271"/>
<display value="Cerebral proliferative angiopathy"/>
</concept>
<concept>
<code value="692296"/>
<display
value="Idiopathic triglyceride deposit cardiomyovasculopathy"/>
</concept>
<concept>
<code value="692305"/>
<display value="Triglyceride deposit cardiomyovasculopathy"/>
</concept>
<concept>
<code value="692790"/>
<display value="ATP6AP1-CDG"/>
</concept>
<concept>
<code value="692812"/>
<display
value="RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome"/>
</concept>
<concept>
<code value="693549"/>
<display
value="Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome"/>
</concept>
<concept>
<code value="693627"/>
<display
value="Agammaglobulinemia-skin involvement-failure to thrive syndrome"/>
</concept>
<concept>
<code value="693647"/>
<display
value="Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome"/>
</concept>
<concept>
<code value="693661"/>
<display value="Activated PI3K-delta syndrome 1"/>
</concept>
<concept>
<code value="693681"/>
<display value="Activated PI3K-delta syndrome 2"/>
</concept>
<concept>
<code value="693815"/>
<display value="Uterine arteriovenous malformation"/>
</concept>
<concept>
<code value="693826"/>
<display value="Pancreatic arteriovenous malformation"/>
</concept>
<concept>
<code value="693832"/>
<display value="Gastrointestinal tract arteriovenous malformation"/>
</concept>
<concept>
<code value="693839"/>
<display value="Renal arteriovenous malformation"/>
</concept>
<concept>
<code value="693846"/>
<display value="Hepatic arteriovenous malformation"/>
</concept>
<concept>
<code value="693863"/>
<display value="Splenic arteriovenous malformation"/>
</concept>
<concept>
<code value="693869"/>
<display value="Gallblader arteriovenous malformation"/>
</concept>
<concept>
<code value="693872"/>
<display value="Urinary tract arteriovenous malformation"/>
</concept>
<concept>
<code value="693907"/>
<display
value="RASA1-related capillary malformation-arteriovenous malformation"/>
</concept>
<concept>
<code value="693912"/>
<display
value="EPHB4-related capillary malformation-arteriovenous malformation"/>
</concept>
<concept>
<code value="694228"/>
<display value="Congenital intrahepatic arterioportal fistula"/>
</concept>
<concept>
<code value="694304"/>
<display
value="ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome"/>
</concept>
<concept>
<code value="694308"/>
<display
value="ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"/>
</concept>
<concept>
<code value="694356"/>
<display value="ADAR-related hereditary spastic paraplegia"/>
</concept>
<concept>
<code value="694922"/>
<display
value="Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome"/>
</concept>
<concept>
<code value="694937"/>
<display
value="Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency"/>
</concept>
<concept>
<code value="694946"/>
<display value="Alazami-Yuan syndrome"/>
</concept>
<concept>
<code value="694956"/>
<display
value="Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome"/>
</concept>
<concept>
<code value="694963"/>
<display value="Inflammatory breast cancer"/>
</concept>
<concept>
<code value="695020"/>
<display value="Urachal carcinoma"/>
</concept>
<concept>
<code value="695023"/>
<display value="Pure squamous carcinoma of the urothelial tract"/>
</concept>
<concept>
<code value="695032"/>
<display value="Giant omphalocele"/>
</concept>
<concept>
<code value="695038"/>
<display value="Small omphalocele"/>
</concept>
<concept>
<code value="695110"/>
<display value="MAN2B2-CDG"/>
</concept>
<concept>
<code value="695131"/>
<display value="Acinar cystic transformation of the pancreas"/>
</concept>
<concept>
<code value="695136"/>
<display value="Infant-type hemispheric glioma"/>
</concept>
<concept>
<code value="695140"/>
<display value="Sickle cell-beta zero-thalassemia"/>
</concept>
<concept>
<code value="695147"/>
<display value="Sickle cell-beta plus-thalassemia"/>
</concept>
<concept>
<code value="695172"/>
<display
value="Combined immunodeficiency due to dimerization defective IKAROS mutation"/>
</concept>
<concept>
<code value="695183"/>
<display
value="Late-onset combined immunodeficiency due to ICOS deficiency"/>
</concept>
<concept>
<code value="695191"/>
<display
value="Late-onset combined immunodeficiency due to ICOSL deficiency"/>
</concept>
<concept>
<code value="695611"/>
<display value="3q26q28 deletion syndrome"/>
</concept>
<concept>
<code value="695631"/>
<display value="Primary vitreoretinal large B-cell lymphoma"/>
</concept>
<concept>
<code value="695783"/>
<display value="EDEM3-CDG"/>
</concept>
<concept>
<code value="695807"/>
<display
value="Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome"/>
</concept>
<concept>
<code value="696063"/>
<display value="PLIN4-related distal myopathy"/>
</concept>
<concept>
<code value="696078"/>
<display value="Central Giant Cell Granuloma"/>
</concept>
<concept>
<code value="696175"/>
<display value="Encapsulating peritoneal sclerosis"/>
</concept>
<concept>
<code value="696189"/>
<display value="Congenital generalized lipodystrophy type 1"/>
</concept>
<concept>
<code value="696206"/>
<display value="Congenital generalized lipodystrophy type 3"/>
</concept>
<concept>
<code value="696242"/>
<display
value="PPARG-associated congenital generalized lipodystrophy"/>
</concept>
<concept>
<code value="696289"/>
<display value="Congenital generalized lipodystrophy type 2"/>
</concept>
<concept>
<code value="69663"/>
<display value="Low phospholipid-associated cholelithiasis"/>
</concept>
<concept>
<code value="69665"/>
<display value="Intrahepatic cholestasis of pregnancy"/>
</concept>
<concept>
<code value="696830"/>
<display value="Female adnexal tumor of probable Wolffian origin"/>
</concept>
<concept>
<code value="696857"/>
<display
value="Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations"/>
</concept>
<concept>
<code value="696863"/>
<display
value="Common variable immunodeficiency phenotype due to somatic mutations"/>
</concept>
<concept>
<code value="696874"/>
<display value="NFKB1-related immune dysregulation"/>
</concept>
<concept>
<code value="696881"/>
<display
value="Common variable immunodeficiency phenotype due to CD19/CD81 deficiency"/>
</concept>
<concept>
<code value="696894"/>
<display
value="Common variable immunodeficiency phenotype due to CD21 deficiency"/>
</concept>
<concept>
<code value="696897"/>
<display value="Congenital megaprepuce"/>
</concept>
<concept>
<code value="696904"/>
<display
value="Common variable immunodeficiency phenotype due to IRF2BP2 deficiency"/>
</concept>
<concept>
<code value="696907"/>
<display
value="Common variable immunodeficiency phenotype due to homozygous TACI deficiency"/>
</concept>
<concept>
<code value="696925"/>
<display
value="Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency"/>
</concept>
<concept>
<code value="696931"/>
<display
value="Common variable immunodeficiency phenotype due to TWEAK deficiency"/>
</concept>
<concept>
<code value="696942"/>
<display
value="Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency"/>
</concept>
<concept>
<code value="696945"/>
<display
value="X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency"/>
</concept>
<concept>
<code value="697053"/>
<display value="Talaromycosis"/>
</concept>
<concept>
<code value="697067"/>
<display
value="Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome"/>
</concept>
<concept>
<code value="697091"/>
<display value="Emergomycosis"/>
</concept>
<concept>
<code value="697096"/>
<display value="Cryptosporidiosis"/>
</concept>
<concept>
<code value="697101"/>
<display value="Fontaine progeroid syndrome"/>
</concept>
<concept>
<code value="697132"/>
<display value="Lymphoepithelial cyst of the pancreas"/>
</concept>
<concept>
<code value="697160"/>
<display value="Infantile epileptic spasms syndrome"/>
</concept>
<concept>
<code value="69723"/>
<display value="Tyrosinemia type 3"/>
</concept>
<concept>
<code value="69735"/>
<display
value="Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"/>
</concept>
<concept>
<code value="697356"/>
<display
value="Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome"/>
</concept>
<concept>
<code value="69736"/>
<display value="Bilateral acute depigmentation of the iris"/>
</concept>
<concept>
<code value="69737"/>
<display value="Bosley-Salih-Alorainy syndrome"/>
</concept>
<concept>
<code value="697385"/>
<display
value="Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency"/>
</concept>
<concept>
<code value="697389"/>
<display value="Combined immunodeficiency due to HELIOS deficiency"/>
</concept>
<concept>
<code value="69739"/>
<display value="Athabaskan brainstem dysgenesis syndrome"/>
</concept>
<concept>
<code value="697394"/>
<display value="Combined immunodeficiency due to c-REL deficiency"/>
</concept>
<concept>
<code value="697403"/>
<display
value="Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency"/>
</concept>
<concept>
<code value="697414"/>
<display
value="Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation"/>
</concept>
<concept>
<code value="697417"/>
<display
value="Common variable immunodeficiency phenotype due to SEC61A1 deficiency"/>
</concept>
<concept>
<code value="69744"/>
<display value="Circumscribed palmoplantar hypokeratosis"/>
</concept>
<concept>
<code value="69745"/>
<display value="Warty dyskeratoma"/>
</concept>
<concept>
<code value="697734"/>
<display value="ST3GAL3-CDG"/>
</concept>
<concept>
<code value="697760"/>
<display
value="Intellectual disability-nasal speech-craniofacial dysmorphism syndrome"/>
</concept>
<concept>
<code value="697764"/>
<display
value="Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation"/>
</concept>
<concept>
<code value="697986"/>
<display value="Congenital peritoneal encapsulation"/>
</concept>
<concept>
<code value="698005"/>
<display
value="Epilepsy with generalized tonic-clonic seizures alone"/>
</concept>
<concept>
<code value="698012"/>
<display value="Fibromuscular dysplasia"/>
</concept>
<concept>
<code value="698036"/>
<display
value="Fibromuscular dysplasia of the cervical and intracranial arteries"/>
</concept>
<concept>
<code value="698043"/>
<display value="Fibromuscular dysplasia of the renal arteries"/>
</concept>
<concept>
<code value="698059"/>
<display value="Fibromuscular dysplasia of the coronary arteries"/>
</concept>
<concept>
<code value="698063"/>
<display value="Fibromuscular dysplasia of the visceral arteries"/>
</concept>
<concept>
<code value="698069"/>
<display
value="Fibromuscular dysplasia of the arteries of the extremities"/>
</concept>
<concept>
<code value="698085"/>
<display
value="Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome"/>
</concept>
<concept>
<code value="698090"/>
<display
value="Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome"/>
</concept>
<concept>
<code value="698260"/>
<display value="Carotid web"/>
</concept>
<concept>
<code value="698945"/>
<display value="Autoimmune heparin-induced thrombocytopenia"/>
</concept>
<concept>
<code value="699"/>
<display value="Pearson syndrome"/>
</concept>
<concept>
<code value="699021"/>
<display value="Spontaneous heparin-induced thrombocytopenia"/>
</concept>
<concept>
<code value="699029"/>
<display value="Vaccine-induced immune thrombotic thrombocytopenia"/>
</concept>
<concept>
<code value="699057"/>
<display value="Annular erythema of infancy"/>
</concept>
<concept>
<code value="699068"/>
<display value="Fontan-associated liver disease"/>
</concept>
<concept>
<code value="699578"/>
<display
value="Combined immunodeficiency with low Ig due to BCL10 deficiency"/>
</concept>
<concept>
<code value="699590"/>
<display
value="Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency"/>
</concept>
<concept>
<code value="699593"/>
<display
value="Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency"/>
</concept>
<concept>
<code value="699596"/>
<display
value="Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency"/>
</concept>
<concept>
<code value="699599"/>
<display value="ICHAD syndrome"/>
</concept>
<concept>
<code value="699605"/>
<display value="NEMO deleted exon 5 autoinflammatory syndrome"/>
</concept>
<concept>
<code value="699615"/>
<display
value="Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency"/>
</concept>
<concept>
<code value="699618"/>
<display
value="Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency"/>
</concept>
<concept>
<code value="699678"/>
<display value="Necrotizing cellulitis"/>
</concept>
<concept>
<code value="699683"/>
<display value="Fibro-adipose vascular anomaly"/>
</concept>
<concept>
<code value="699697"/>
<display value="Necrotizing fasciitis"/>
</concept>
<concept>
<code value="699702"/>
<display value="Necrotizing myositis"/>
</concept>
<concept>
<code value="699708"/>
<display value="CLN14 disease"/>
</concept>
<concept>
<code value="699718"/>
<display value="Infantile CLN1 disease"/>
</concept>
<concept>
<code value="699734"/>
<display value="Late infantile CLN1 disease"/>
</concept>
<concept>
<code value="699739"/>
<display value="Juvenile CLN1 disease"/>
</concept>
<concept>
<code value="699745"/>
<display value="Adult CLN1 disease"/>
</concept>
<concept>
<code value="699751"/>
<display value="Infantile CLN2 disease"/>
</concept>
<concept>
<code value="699761"/>
<display value="Late infantile CLN2 disease"/>
</concept>
<concept>
<code value="699769"/>
<display value="Juvenile CLN2 disease"/>
</concept>
<concept>
<code value="699780"/>
<display value="Juvenile CLN3 disease"/>
</concept>
<concept>
<code value="699796"/>
<display value="Protracted juvenile CLN3 disease"/>
</concept>
<concept>
<code value="699802"/>
<display value="Late infantile CLN5 disease"/>
</concept>
<concept>
<code value="699807"/>
<display value="Juvenile CLN5 disease"/>
</concept>
<concept>
<code value="699812"/>
<display value="Adult CLN5 disease"/>
</concept>
<concept>
<code value="699822"/>
<display value="Sickle cell S-Lepore disease"/>
</concept>
<concept>
<code value="699835"/>
<display
value="Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome"/>
</concept>
<concept>
<code value="699844"/>
<display
value="Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome"/>
</concept>
<concept>
<code value="699850"/>
<display value="2p25.3 microduplication syndrome"/>
</concept>
<concept>
<code value="7"/>
<display value="3C syndrome"/>
</concept>
<concept>
<code value="70"/>
<display value="Proximal spinal muscular atrophy"/>
</concept>
<concept>
<code value="700"/>
<display value="Alopecia totalis"/>
</concept>
<concept>
<code value="700085"/>
<display
value="Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant"/>
</concept>
<concept>
<code value="700090"/>
<display value="Sickle cell S-O Arab disease"/>
</concept>
<concept>
<code value="700107"/>
<display value="Sickle cell S-other specified hemoglobin variant"/>
</concept>
<concept>
<code value="700111"/>
<display value="Homozygous hemoglobin O Arab disease"/>
</concept>
<concept>
<code value="700124"/>
<display value="Autosomal recessive hereditary chronic pancreatitis"/>
</concept>
<concept>
<code value="700133"/>
<display value="Idiopathic chronic pancreatitis"/>
</concept>
<concept>
<code value="700136"/>
<display value="Early-onset idiopathic chronic pancreatitis"/>
</concept>
<concept>
<code value="700139"/>
<display value="Late-onset idiopathic chronic pancreatitis"/>
</concept>
<concept>
<code value="700154"/>
<display
value="TARDBP-related predominantly upper-limb distal myopathy"/>
</concept>
<concept>
<code value="700160"/>
<display
value="ADNP-related blepharophimosis-intellectual disability syndrome"/>
</concept>
<concept>
<code value="700163"/>
<display value="SMPX-related distal myopathy"/>
</concept>
<concept>
<code value="700170"/>
<display value="Asymetric thumb-handgrip weakness-distal myopathy"/>
</concept>
<concept>
<code value="700188"/>
<display
value="Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy"/>
</concept>
<concept>
<code value="700205"/>
<display
value="Combined immunodeficiency due to IKBKB gain-of-function mutation"/>
</concept>
<concept>
<code value="700286"/>
<display value="Congenital high airway obstruction syndrome"/>
</concept>
<concept>
<code value="700325"/>
<display
value="NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome"/>
</concept>
<concept>
<code value="700333"/>
<display
value="Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency"/>
</concept>
<concept>
<code value="700336"/>
<display
value="Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency"/>
</concept>
<concept>
<code value="700467"/>
<display value="Late infantile CLN6 disease"/>
</concept>
<concept>
<code value="700472"/>
<display value="Juvenile CLN6 disease"/>
</concept>
<concept>
<code value="700477"/>
<display value="Adult CLN6 disease"/>
</concept>
<concept>
<code value="700484"/>
<display value="Late infantile CLN8 disease"/>
</concept>
<concept>
<code value="700487"/>
<display value="Congenital CLN10 disease"/>
</concept>
<concept>
<code value="700492"/>
<display value="Late infantile CLN10 disease"/>
</concept>
<concept>
<code value="700497"/>
<display value="Juvenile CLN10 disease"/>
</concept>
<concept>
<code value="700508"/>
<display
value="Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy"/>
</concept>
<concept>
<code value="701"/>
<display value="Alopecia universalis"/>
</concept>
<concept>
<code value="702"/>
<display value="Pelizaeus-Merzbacher disease"/>
</concept>
<concept>
<code value="703"/>
<display value="Bullous pemphigoid"/>
</concept>
<concept>
<code value="704"/>
<display value="Pemphigus vulgaris"/>
</concept>
<concept>
<code value="70472"/>
<display
value="Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"/>
</concept>
<concept>
<code value="70475"/>
<display value="Radiation proctitis"/>
</concept>
<concept>
<code value="70476"/>
<display value="Vernal keratoconjunctivitis"/>
</concept>
<concept>
<code value="705"/>
<display value="Pendred syndrome"/>
</concept>
<concept>
<code value="70567"/>
<display value="Cholangiocarcinoma"/>
</concept>
<concept>
<code value="70568"/>
<display value="Post-transplant lymphoproliferative disease"/>
</concept>
<concept>
<code value="70573"/>
<display value="Small cell lung cancer"/>
</concept>
<concept>
<code value="70578"/>
<display value="Adult acute respiratory distress syndrome"/>
</concept>
<concept>
<code value="70588"/>
<display value="Meconium aspiration syndrome"/>
</concept>
<concept>
<code value="70589"/>
<display value="Bronchopulmonary dysplasia"/>
</concept>
<concept>
<code value="70590"/>
<display value="Infantile apnea"/>
</concept>
<concept>
<code value="70591"/>
<display value="Chronic thromboembolic pulmonary hypertension"/>
</concept>
<concept>
<code value="70592"/>
<display
value="Transient predisposition to invasive pyogenic bacterial infection"/>
</concept>
<concept>
<code value="70593"/>
<display
value="Immunodeficiency due to selective anti-polysaccharide antibody deficiency"/>
</concept>
<concept>
<code value="70594"/>
<display
value="Dopa-responsive dystonia due to sepiapterin reductase deficiency"/>
</concept>
<concept>
<code value="70595"/>
<display
value="Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"/>
</concept>
<concept>
<code value="70596"/>
<display value="Congenital Epstein-Barr virus infection"/>
</concept>
<concept>
<code value="707"/>
<display value="Plague"/>
</concept>
<concept>
<code value="708"/>
<display value="Peters anomaly"/>
</concept>
<concept>
<code value="709"/>
<display value="Peters plus syndrome"/>
</concept>
<concept>
<code value="71"/>
<display value="Chylomicron retention disease"/>
</concept>
<concept>
<code value="710"/>
<display value="Pfeiffer syndrome"/>
</concept>
<concept>
<code value="712"/>
<display
value="Hemolytic anemia due to glucophosphate isomerase deficiency"/>
</concept>
<concept>
<code value="71211"/>
<display value="Neuromyelitis optica spectrum disorder"/>
</concept>
<concept>
<code value="71212"/>
<display
value="Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="71213"/>
<display value="Retinal capillary malformation"/>
</concept>
<concept>
<code value="71267"/>
<display
value="Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome"/>
</concept>
<concept>
<code value="71271"/>
<display value="Split hand-split foot-deafness syndrome"/>
</concept>
<concept>
<code value="71272"/>
<display value="Sandifer syndrome"/>
</concept>
<concept>
<code value="71273"/>
<display value="Renal nutcracker syndrome"/>
</concept>
<concept>
<code value="71274"/>
<display value="Disseminated peritoneal leiomyomatosis"/>
</concept>
<concept>
<code value="71275"/>
<display value="Rh deficiency syndrome"/>
</concept>
<concept>
<code value="71276"/>
<display value="Silent sinus syndrome"/>
</concept>
<concept>
<code value="71277"/>
<display
value="Classic glucose transporter type 1 deficiency syndrome"/>
</concept>
<concept>
<code value="71278"/>
<display
value="Congenital brain dysgenesis due to glutamine synthetase deficiency"/>
</concept>
<concept>
<code value="71279"/>
<display value="CANOMAD syndrome"/>
</concept>
<concept>
<code value="71289"/>
<display
value="Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"/>
</concept>
<concept>
<code value="71290"/>
<display
value="Familial platelet disorder with associated myeloid malignancy"/>
</concept>
<concept>
<code value="713"/>
<display
value="Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"/>
</concept>
<concept>
<code value="714"/>
<display
value="Hemolytic anemia due to diphosphoglycerate mutase deficiency"/>
</concept>
<concept>
<code value="71493"/>
<display value="Familial thrombocytosis"/>
</concept>
<concept>
<code value="715"/>
<display
value="Glycogen storage disease due to muscle phosphorylase kinase deficiency"/>
</concept>
<concept>
<code value="71505"/>
<display value="Cancer-associated retinopathy"/>
</concept>
<concept>
<code value="71517"/>
<display value="Rapid-onset dystonia-parkinsonism"/>
</concept>
<concept>
<code value="71518"/>
<display value="Benign paroxysmal torticollis of infancy"/>
</concept>
<concept>
<code value="71519"/>
<display value="Psychogenic movement disorders"/>
</concept>
<concept>
<code value="71526"/>
<display value="Obesity due to pro-opiomelanocortin deficiency"/>
</concept>
<concept>
<code value="71528"/>
<display value="Obesity due to prohormone convertase I deficiency"/>
</concept>
<concept>
<code value="71529"/>
<display value="Obesity due to melanocortin 4 receptor deficiency"/>
</concept>
<concept>
<code value="716"/>
<display value="Phenylketonuria"/>
</concept>
<concept>
<code value="718"/>
<display value="Isolated Pierre Robin sequence"/>
</concept>
<concept>
<code value="72"/>
<display value="Angelman syndrome"/>
</concept>
<concept>
<code value="720"/>
<display value="Pili bifurcati"/>
</concept>
<concept>
<code value="721"/>
<display value="Gray platelet syndrome"/>
</concept>
<concept>
<code value="722"/>
<display value="Hypoplasminogenemia"/>
</concept>
<concept>
<code value="723"/>
<display value="Pneumocystosis"/>
</concept>
<concept>
<code value="724"/>
<display value="Idiopathic acute eosinophilic pneumonia"/>
</concept>
<concept>
<code value="725"/>
<display
value="Developmental and epileptic encephalopathy with spike-wave activation in sleep"/>
</concept>
<concept>
<code value="726"/>
<display value="Alpers-Huttenlocher syndrome"/>
</concept>
<concept>
<code value="727"/>
<display value="Microscopic polyangiitis"/>
</concept>
<concept>
<code value="728"/>
<display value="Relapsing polychondritis"/>
</concept>
<concept>
<code value="729"/>
<display value="Polycythemia vera"/>
</concept>
<concept>
<code value="73"/>
<display value="Gorham-Stout disease"/>
</concept>
<concept>
<code value="730"/>
<display value="Autosomal dominant polycystic kidney disease"/>
</concept>
<concept>
<code value="731"/>
<display value="Autosomal recessive polycystic kidney disease"/>
</concept>
<concept>
<code value="732"/>
<display value="Polymyositis"/>
</concept>
<concept>
<code value="73223"/>
<display
value="Global developmental delay-osteopenia-ectodermal defect syndrome"/>
</concept>
<concept>
<code value="73224"/>
<display value="Kidney tubulopathy-dilated cardiomyopathy syndrome"/>
</concept>
<concept>
<code value="73229"/>
<display value="HANAC syndrome"/>
</concept>
<concept>
<code value="73230"/>
<display
value="Ossification anomalies-psychomotor developmental delay syndrome"/>
</concept>
<concept>
<code value="73245"/>
<display
value="Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"/>
</concept>
<concept>
<code value="73246"/>
<display
value="Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"/>
</concept>
<concept>
<code value="73256"/>
<display value="Central neurocytoma"/>
</concept>
<concept>
<code value="73260"/>
<display value="Paracoccidioidomycosis"/>
</concept>
<concept>
<code value="73263"/>
<display value="Zygomycosis"/>
</concept>
<concept>
<code value="73267"/>
<display value="Non-24-hour sleep-wake syndrome"/>
</concept>
<concept>
<code value="73271"/>
<display
value="Bleeding diathesis due to a collagen receptor defect"/>
</concept>
<concept>
<code value="73272"/>
<display
value="Growth delay due to insulin-like growth factor type 1 deficiency"/>
</concept>
<concept>
<code value="73273"/>
<display
value="Growth delay due to insulin-like growth factor I resistance"/>
</concept>
<concept>
<code value="733"/>
<display value="Familial adenomatous polyposis"/>
</concept>
<concept>
<code value="734"/>
<display value="Alpha delta granule deficiency"/>
</concept>
<concept>
<code value="73423"/>
<display value="Acute ackee fruit intoxication"/>
</concept>
<concept>
<code value="735"/>
<display value="Porokeratosis of Mibelli"/>
</concept>
<concept>
<code value="737"/>
<display value="Porokeratosis plantaris palmaris et disseminata"/>
</concept>
<concept>
<code value="739"/>
<display value="Prader-Willi syndrome"/>
</concept>
<concept>
<code value="74"/>
<display value="Angiostrongyliasis"/>
</concept>
<concept>
<code value="740"/>
<display value="Hutchinson-Gilford progeria syndrome"/>
</concept>
<concept>
<code value="741"/>
<display value="Familial mitral valve prolapse"/>
</concept>
<concept>
<code value="742"/>
<display value="Prolidase deficiency"/>
</concept>
<concept>
<code value="743"/>
<display
value="Severe hereditary thrombophilia due to congenital protein S deficiency"/>
</concept>
<concept>
<code value="744"/>
<display value="Proteus syndrome"/>
</concept>
<concept>
<code value="745"/>
<display
value="Severe hereditary thrombophilia due to congenital protein C deficiency"/>
</concept>
<concept>
<code value="746"/>
<display value="Mitochondrial trifunctional protein deficiency"/>
</concept>
<concept>
<code value="747"/>
<display value="Autoimmune pulmonary alveolar proteinosis"/>
</concept>
<concept>
<code value="749"/>
<display value="Congenital prekallikrein deficiency"/>
</concept>
<concept>
<code value="750"/>
<display value="Pseudoachondroplasia"/>
</concept>
<concept>
<code value="752"/>
<display
value="46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"/>
</concept>
<concept>
<code value="75233"/>
<display value="Wolman disease"/>
</concept>
<concept>
<code value="75234"/>
<display value="Cholesteryl ester storage disease"/>
</concept>
<concept>
<code value="75249"/>
<display value="Familial isolated restrictive cardiomyopathy"/>
</concept>
<concept>
<code value="753"/>
<display
value="46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"/>
</concept>
<concept>
<code value="75325"/>
<display
value="Osteosclerosis-ichthyosis-premature ovarian failure syndrome"/>
</concept>
<concept>
<code value="75326"/>
<display value="Familial isolated retinal arteriolar tortuosity"/>
</concept>
<concept>
<code value="75327"/>
<display value="North Carolina macular dystrophy"/>
</concept>
<concept>
<code value="75373"/>
<display value="Progressive bifocal chorioretinal atrophy"/>
</concept>
<concept>
<code value="75374"/>
<display value="Bradyopsia"/>
</concept>
<concept>
<code value="75376"/>
<display value="Familial drusen"/>
</concept>
<concept>
<code value="75377"/>
<display value="Central areolar choroidal dystrophy"/>
</concept>
<concept>
<code value="75378"/>
<display value="Oligocone trichromacy"/>
</concept>
<concept>
<code value="75381"/>
<display value="Cystoid macular dystrophy"/>
</concept>
<concept>
<code value="75382"/>
<display value="Oguchi disease"/>
</concept>
<concept>
<code value="75389"/>
<display
value="Brain malformation-congenital heart disease-postaxial polydactyly syndrome"/>
</concept>
<concept>
<code value="75391"/>
<display
value="Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"/>
</concept>
<concept>
<code value="75392"/>
<display value="Periodontal Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="75496"/>
<display
value="B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="75497"/>
<display value="X-linked Ehlers-Danlos syndrome"/>
</concept>
<concept>
<code value="755"/>
<display value="Leydig cell hypoplasia"/>
</concept>
<concept>
<code value="75508"/>
<display value="Angioosteohypotrophic syndrome"/>
</concept>
<concept>
<code value="75563"/>
<display value="X-linked sideroblastic anemia"/>
</concept>
<concept>
<code value="75564"/>
<display value="Acquired idiopathic sideroblastic anemia"/>
</concept>
<concept>
<code value="75565"/>
<display value="Tropical endomyocardial fibrosis"/>
</concept>
<concept>
<code value="75566"/>
<display value="Loeffler endocarditis"/>
</concept>
<concept>
<code value="75567"/>
<display value="Primary progressive freezing gait"/>
</concept>
<concept>
<code value="756"/>
<display value="Pseudohypoaldosteronism type 1"/>
</concept>
<concept>
<code value="757"/>
<display value="Pseudohypoaldosteronism type 2"/>
</concept>
<concept>
<code value="758"/>
<display value="Pseudoxanthoma elasticum"/>
</concept>
<concept>
<code value="75840"/>
<display value="Ullrich congenital muscular dystrophy"/>
</concept>
<concept>
<code value="75857"/>
<display value="6q terminal deletion syndrome"/>
</concept>
<concept>
<code value="75858"/>
<display value="MORM syndrome"/>
</concept>
<concept>
<code value="76"/>
<display value="Strongyloidiasis"/>
</concept>
<concept>
<code value="760"/>
<display value="Purine nucleoside phosphorylase deficiency"/>
</concept>
<concept>
<code value="761"/>
<display value="Immunoglobulin A vasculitis"/>
</concept>
<concept>
<code value="763"/>
<display value="Pycnodysostosis"/>
</concept>
<concept>
<code value="764"/>
<display value="Pyomyositis"/>
</concept>
<concept>
<code value="765"/>
<display value="Pyruvate dehydrogenase deficiency"/>
</concept>
<concept>
<code value="766"/>
<display
value="Hemolytic anemia due to red cell pyruvate kinase deficiency"/>
</concept>
<concept>
<code value="767"/>
<display value="Polyarteritis nodosa"/>
</concept>
<concept>
<code value="769"/>
<display value="Rabson-Mendenhall syndrome"/>
</concept>
<concept>
<code value="770"/>
<display value="Rabies"/>
</concept>
<concept>
<code value="772"/>
<display value="Infantile Refsum disease"/>
</concept>
<concept>
<code value="77258"/>
<display value="Trichorhinophalangeal syndrome type 1"/>
</concept>
<concept>
<code value="77259"/>
<display value="Gaucher disease type 1"/>
</concept>
<concept>
<code value="77260"/>
<display value="Gaucher disease type 2"/>
</concept>
<concept>
<code value="77261"/>
<display value="Gaucher disease type 3"/>
</concept>
<concept>
<code value="77292"/>
<display
value="Infantile neurovisceral acid sphingomyelinase deficiency"/>
</concept>
<concept>
<code value="77293"/>
<display value="Chronic visceral acid sphingomyelinase deficiency"/>
</concept>
<concept>
<code value="77295"/>
<display value="Odontoleukodystrophy"/>
</concept>
<concept>
<code value="77296"/>
<display value="Morgagni-Stewart-Morel syndrome"/>
</concept>
<concept>
<code value="77297"/>
<display value="Majeed syndrome"/>
</concept>
<concept>
<code value="77298"/>
<display
value="Anophthalmia/microphthalmia-esophageal atresia syndrome"/>
</concept>
<concept>
<code value="77299"/>
<display value="Microphthalmia-brain atrophy syndrome"/>
</concept>
<concept>
<code value="773"/>
<display value="Refsum disease"/>
</concept>
<concept>
<code value="77300"/>
<display
value="Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"/>
</concept>
<concept>
<code value="77301"/>
<display value="Monosomy 9q22.3 syndrome"/>
</concept>
<concept>
<code value="774"/>
<display value="Hereditary hemorrhagic telangiectasia"/>
</concept>
<concept>
<code value="776"/>
<display value="Lujan-Fryns syndrome"/>
</concept>
<concept>
<code value="777"/>
<display value="X-linked non-syndromic intellectual disability"/>
</concept>
<concept>
<code value="778"/>
<display value="Rett syndrome"/>
</concept>
<concept>
<code value="779"/>
<display value="Reynolds syndrome"/>
</concept>
<concept>
<code value="78"/>
<display value="Ankylostomiasis"/>
</concept>
<concept>
<code value="780"/>
<display value="Rhabdomyosarcoma"/>
</concept>
<concept>
<code value="781"/>
<display value="Q fever"/>
</concept>
<concept>
<code value="782"/>
<display value="Axenfeld-Rieger syndrome"/>
</concept>
<concept>
<code value="783"/>
<display value="Rubinstein-Taybi syndrome"/>
</concept>
<concept>
<code value="785"/>
<display value="Estrogen resistance syndrome"/>
</concept>
<concept>
<code value="786"/>
<display value="Generalized glucocorticoid resistance syndrome"/>
</concept>
<concept>
<code value="79"/>
<display value="Congenital alpha2-antiplasmin deficiency"/>
</concept>
<concept>
<code value="790"/>
<display value="Retinoblastoma"/>
</concept>
<concept>
<code value="79076"/>
<display value="Juvenile polyposis of infancy"/>
</concept>
<concept>
<code value="79078"/>
<display value="IgG4-related dacryoadenitis and sialadenitis"/>
</concept>
<concept>
<code value="79083"/>
<display value="PPARG-related familial partial lipodystrophy"/>
</concept>
<concept>
<code value="79084"/>
<display value="Familial partial lipodystrophy, Köbberling type"/>
</concept>
<concept>
<code value="79085"/>
<display value="AKT2-related familial partial lipodystrophy"/>
</concept>
<concept>
<code value="79086"/>
<display value="Acquired generalized lipodystrophy"/>
</concept>
<concept>
<code value="79087"/>
<display value="Acquired partial lipodystrophy"/>
</concept>
<concept>
<code value="79091"/>
<display
value="Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"/>
</concept>
<concept>
<code value="79093"/>
<display value="Foix-Alajouanine syndrome"/>
</concept>
<concept>
<code value="79094"/>
<display value="Grange syndrome"/>
</concept>
<concept>
<code value="79095"/>
<display value="Congenital bile acid synthesis defect type 4"/>
</concept>
<concept>
<code value="79096"/>
<display
value="Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy"/>
</concept>
<concept>
<code value="79097"/>
<display value="Folinic acid-responsive seizures"/>
</concept>
<concept>
<code value="79098"/>
<display value="Sympathetic ophthalmia"/>
</concept>
<concept>
<code value="79099"/>
<display
value="Interstitial granulomatous dermatitis with arthritis"/>
</concept>
<concept>
<code value="791"/>
<display value="Retinitis pigmentosa"/>
</concept>
<concept>
<code value="79100"/>
<display value="Atrophoderma vermiculata"/>
</concept>
<concept>
<code value="79101"/>
<display value="Hyperprolinemia type 2"/>
</concept>
<concept>
<code value="79102"/>
<display value="Thyrotoxic periodic paralysis"/>
</concept>
<concept>
<code value="79105"/>
<display value="Myxofibrosarcoma"/>
</concept>
<concept>
<code value="79106"/>
<display value="Eiken syndrome"/>
</concept>
<concept>
<code value="79107"/>
<display
value="Developmental malformations-deafness-dystonia syndrome"/>
</concept>
<concept>
<code value="79113"/>
<display value="Mandibulofacial dysostosis-microcephaly syndrome"/>
</concept>
<concept>
<code value="79118"/>
<display
value="Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"/>
</concept>
<concept>
<code value="79124"/>
<display
value="Hepatic veno-occlusive disease-immunodeficiency syndrome"/>
</concept>
<concept>
<code value="79126"/>
<display value="Acute interstitial pneumonia"/>
</concept>
<concept>
<code value="79127"/>
<display
value="Respiratory bronchiolitis-interstitial lung disease syndrome"/>
</concept>
<concept>
<code value="79128"/>
<display value="Lymphoid interstitial pneumonia"/>
</concept>
<concept>
<code value="79129"/>
<display value="Trichodysplasia-amelogenesis imperfecta syndrome"/>
</concept>
<concept>
<code value="79133"/>
<display value="Focal facial dermal dysplasia type I"/>
</concept>
<concept>
<code value="79134"/>
<display value="DEND syndrome"/>
</concept>
<concept>
<code value="79135"/>
<display value="Episodic ataxia type 3"/>
</concept>
<concept>
<code value="79136"/>
<display value="Episodic ataxia type 4"/>
</concept>
<concept>
<code value="79137"/>
<display value="Generalized epilepsy-paroxysmal dyskinesia syndrome"/>
</concept>
<concept>
<code value="79138"/>
<display value="Bickerstaff brainstem encephalitis"/>
</concept>
<concept>
<code value="79139"/>
<display value="Japanese encephalitis"/>
</concept>
<concept>
<code value="79140"/>
<display value="Cutaneous neuroendocrine carcinoma"/>
</concept>
<concept>
<code value="79141"/>
<display value="Hereditary painful callosities"/>
</concept>
<concept>
<code value="79143"/>
<display value="Isolated congenital anonychia"/>
</concept>
<concept>
<code value="79144"/>
<display value="Isolated congenital onychodysplasia"/>
</concept>
<concept>
<code value="79145"/>
<display value="Dowling-Degos disease"/>
</concept>
<concept>
<code value="79146"/>
<display value="Familial progressive hyperpigmentation"/>
</concept>
<concept>
<code value="79147"/>
<display value="Familial reactive perforating collagenosis"/>
</concept>
<concept>
<code value="79148"/>
<display value="Elastosis perforans serpiginosa"/>
</concept>
<concept>
<code value="79149"/>
<display value="Dermochondrocorneal dystrophy"/>
</concept>
<concept>
<code value="79150"/>
<display value="Linear and whorled nevoid hypermelanosis"/>
</concept>
<concept>
<code value="79151"/>
<display value="Acrokeratosis verruciformis of Hopf"/>
</concept>
<concept>
<code value="79152"/>
<display value="Disseminated superficial actinic porokeratosis"/>
</concept>
<concept>
<code value="79153"/>
<display value="Idiopathic trachyonychia"/>
</concept>
<concept>
<code value="79154"/>
<display value="2-aminoadipic 2-oxoadipic aciduria"/>
</concept>
<concept>
<code value="79155"/>
<display value="Hydroxykynureninuria"/>
</concept>
<concept>
<code value="79156"/>
<display
value="Seizures-intellectual disability due to hydroxylysinuria syndrome"/>
</concept>
<concept>
<code value="79157"/>
<display value="2-methylbutyryl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="79159"/>
<display value="Isobutyryl-CoA dehydrogenase deficiency"/>
</concept>
<concept>
<code value="792"/>
<display value="X-linked retinoschisis"/>
</concept>
<concept>
<code value="79230"/>
<display value="HJV or HAMP-related hemochromatosis"/>
</concept>
<concept>
<code value="79233"/>
<display
value="Hypoxanthine guanine phosphoribosyltransferase partial deficiency"/>
</concept>
<concept>
<code value="79234"/>
<display value="Crigler-Najjar syndrome type 1"/>
</concept>
<concept>
<code value="79235"/>
<display value="Crigler-Najjar syndrome type 2"/>
</concept>
<concept>
<code value="79237"/>
<display value="Galactokinase deficiency"/>
</concept>
<concept>
<code value="79238"/>
<display value="Galactose epimerase deficiency"/>
</concept>
<concept>
<code value="79239"/>
<display value="Classic galactosemia"/>
</concept>
<concept>
<code value="79240"/>
<display
value="Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"/>
</concept>
<concept>
<code value="79241"/>
<display value="Biotinidase deficiency"/>
</concept>
<concept>
<code value="79242"/>
<display value="Holocarboxylase synthetase deficiency"/>
</concept>
<concept>
<code value="79243"/>
<display value="Pyruvate dehydrogenase E1-alpha deficiency"/>
</concept>
<concept>
<code value="79244"/>
<display value="Pyruvate dehydrogenase E2 deficiency"/>
</concept>
<concept>
<code value="79246"/>
<display value="Pyruvate dehydrogenase phosphatase deficiency"/>
</concept>
<concept>
<code value="79253"/>
<display value="Mild phenylketonuria"/>
</concept>
<concept>
<code value="79254"/>
<display value="Classic phenylketonuria"/>
</concept>
<concept>
<code value="79255"/>
<display value="GM1 gangliosidosis type 1"/>
</concept>
<concept>
<code value="79256"/>
<display value="GM1 gangliosidosis type 2"/>
</concept>
<concept>
<code value="79257"/>
<display value="GM1 gangliosidosis type 3"/>
</concept>
<concept>
<code value="79258"/>
<display
value="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia"/>
</concept>
<concept>
<code value="79259"/>
<display
value="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"/>
</concept>
<concept>
<code value="79269"/>
<display value="Sanfilippo syndrome type A"/>
</concept>
<concept>
<code value="79270"/>
<display value="Sanfilippo syndrome type B"/>
</concept>
<concept>
<code value="79271"/>
<display value="Sanfilippo syndrome type C"/>
</concept>
<concept>
<code value="79272"/>
<display value="Sanfilippo syndrome type D"/>
</concept>
<concept>
<code value="79273"/>
<display value="Hereditary coproporphyria"/>
</concept>
<concept>
<code value="79276"/>
<display value="Acute intermittent porphyria"/>
</concept>
<concept>
<code value="79277"/>
<display value="Congenital erythropoietic porphyria"/>
</concept>
<concept>
<code value="79278"/>
<display value="Autosomal erythropoietic protoporphyria"/>
</concept>
<concept>
<code value="79279"/>
<display value="Alpha-N-acetylgalactosaminidase deficiency type 1"/>
</concept>
<concept>
<code value="79280"/>
<display value="Alpha-N-acetylgalactosaminidase deficiency type 2"/>
</concept>
<concept>
<code value="79281"/>
<display value="Alpha-N-acetylgalactosaminidase deficiency type 3"/>
</concept>
<concept>
<code value="79282"/>
<display
value="Methylmalonic acidemia with homocystinuria, type cblC"/>
</concept>
<concept>
<code value="79283"/>
<display
value="Methylmalonic acidemia with homocystinuria, type cblD"/>
</concept>
<concept>
<code value="79284"/>
<display
value="Methylmalonic acidemia with homocystinuria type cblF"/>
</concept>
<concept>
<code value="79292"/>
<display value="Fish-eye disease"/>
</concept>
<concept>
<code value="79293"/>
<display value="Familial LCAT deficiency"/>
</concept>
<concept>
<code value="79299"/>
<display value="Congenital glucokinase-related hyperinsulinism"/>
</concept>
<concept>
<code value="793"/>
<display value="SAPHO syndrome"/>
</concept>
<concept>
<code value="79301"/>
<display value="Congenital bile acid synthesis defect type 1"/>
</concept>
<concept>
<code value="79302"/>
<display value="Congenital bile acid synthesis defect type 3"/>
</concept>
<concept>
<code value="79303"/>
<display value="Congenital bile acid synthesis defect type 2"/>
</concept>
<concept>
<code value="79304"/>
<display
value="Progressive familial intrahepatic cholestasis type 2"/>
</concept>
<concept>
<code value="79305"/>
<display
value="Progressive familial intrahepatic cholestasis type 3"/>
</concept>
<concept>
<code value="79306"/>
<display
value="Progressive familial intrahepatic cholestasis type 1"/>
</concept>
<concept>
<code value="79310"/>
<display
value="Vitamin B12-responsive methylmalonic acidemia type cblA"/>
</concept>
<concept>
<code value="79311"/>
<display
value="Vitamin B12-responsive methylmalonic acidemia type cblB"/>
</concept>
<concept>
<code value="79312"/>
<display
value="Vitamin B12-unresponsive methylmalonic acidemia type mut-"/>
</concept>
<concept>
<code value="79314"/>
<display value="L-2-hydroxyglutaric aciduria"/>
</concept>
<concept>
<code value="79315"/>
<display value="D-2-hydroxyglutaric aciduria"/>
</concept>
<concept>
<code value="79318"/>
<display value="PMM2-CDG"/>
</concept>
<concept>
<code value="79319"/>
<display value="MPI-CDG"/>
</concept>
<concept>
<code value="79320"/>
<display value="ALG6-CDG"/>
</concept>
<concept>
<code value="79321"/>
<display value="ALG3-CDG"/>
</concept>
<concept>
<code value="79322"/>
<display value="DPM1-CDG"/>
</concept>
<concept>
<code value="79323"/>
<display value="MPDU1-CDG"/>
</concept>
<concept>
<code value="79324"/>
<display value="ALG12-CDG"/>
</concept>
<concept>
<code value="79325"/>
<display value="ALG8-CDG"/>
</concept>
<concept>
<code value="79326"/>
<display value="ALG2-CDG"/>
</concept>
<concept>
<code value="79327"/>
<display value="ALG1-CDG"/>
</concept>
<concept>
<code value="79328"/>
<display value="ALG9-CDG"/>
</concept>
<concept>
<code value="79329"/>
<display value="MGAT2-CDG"/>
</concept>
<concept>
<code value="79330"/>
<display value="MOGS-CDG"/>
</concept>
<concept>
<code value="79332"/>
<display value="B4GALT1-CDG"/>
</concept>
<concept>
<code value="79333"/>
<display value="COG7-CDG"/>
</concept>
<concept>
<code value="79345"/>
<display value="Brachytelephalangic chondrodysplasia punctata"/>
</concept>
<concept>
<code value="79346"/>
<display value="Chondrodysplasia punctata, tibial-metacarpal type"/>
</concept>
<concept>
<code value="79347"/>
<display value="Chondrodysplasia punctata, Toriello type"/>
</concept>
<concept>
<code value="79350"/>
<display
value="3-phosphoserine phosphatase deficiency, infantile/juvenile form"/>
</concept>
<concept>
<code value="79351"/>
<display
value="3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"/>
</concept>
<concept>
<code value="79394"/>
<display value="Congenital ichthyosiform erythroderma"/>
</concept>
<concept>
<code value="79395"/>
<display value="Keratoderma hereditarium mutilans with ichthyosis"/>
</concept>
<concept>
<code value="79396"/>
<display
value="Autosomal dominant generalized epidermolysis bullosa simplex, severe form"/>
</concept>
<concept>
<code value="79397"/>
<display
value="Epidermolysis bullosa simplex with mottled pigmentation"/>
</concept>
<concept>
<code value="79399"/>
<display
value="Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"/>
</concept>
<concept>
<code value="794"/>
<display value="Saethre-Chotzen syndrome"/>
</concept>
<concept>
<code value="79400"/>
<display value="Localized epidermolysis bullosa simplex"/>
</concept>
<concept>
<code value="79401"/>
<display
value="PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"/>
</concept>
<concept>
<code value="79402"/>
<display
value="Intermediate generalized junctional epidermolysis bullosa"/>
</concept>
<concept>
<code value="79403"/>
<display
value="Junctional epidermolysis bullosa with pyloric atresia"/>
</concept>
<concept>
<code value="79404"/>
<display value="Severe generalized junctional epidermolysis bullosa"/>
</concept>
<concept>
<code value="79405"/>
<display value="Junctional epidermolysis bullosa inversa"/>
</concept>
<concept>
<code value="79406"/>
<display value="Late-onset junctional epidermolysis bullosa"/>
</concept>
<concept>
<code value="79408"/>
<display
value="Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"/>
</concept>
<concept>
<code value="79409"/>
<display value="Recessive dystrophic epidermolysis bullosa inversa"/>
</concept>
<concept>
<code value="79410"/>
<display
value="Localized dystrophic epidermolysis bullosa, pretibial form"/>
</concept>
<concept>
<code value="79411"/>
<display value="Self-improving dystrophic epidermolysis bullosa"/>
</concept>
<concept>
<code value="79414"/>
<display value="Woolly hair nevus"/>
</concept>
<concept>
<code value="79430"/>
<display value="Hermansky-Pudlak syndrome"/>
</concept>
<concept>
<code value="79431"/>
<display value="Oculocutaneous albinism type 1A"/>
</concept>
<concept>
<code value="79432"/>
<display value="Oculocutaneous albinism type 2"/>
</concept>
<concept>
<code value="79433"/>
<display value="Oculocutaneous albinism type 3"/>
</concept>
<concept>
<code value="79434"/>
<display value="Oculocutaneous albinism type 1B"/>
</concept>
<concept>
<code value="79435"/>
<display value="Oculocutaneous albinism type 4"/>
</concept>
<concept>
<code value="79443"/>
<display value="Pseudohypoparathyroidism type 1A"/>
</concept>
<concept>
<code value="79444"/>
<display value="Pseudohypoparathyroidism type 1C"/>
</concept>
<concept>
<code value="79445"/>
<display value="Pseudopseudohypoparathyroidism"/>
</concept>
<concept>
<code value="79447"/>
<display value="X-linked lethal multiple pterygium syndrome"/>
</concept>
<concept>
<code value="79452"/>
<display value="Milroy disease"/>
</concept>
<concept>
<code value="79455"/>
<display value="Cutaneous mastocytoma"/>
</concept>
<concept>
<code value="79456"/>
<display value="Diffuse cutaneous mastocytosis"/>
</concept>
<concept>
<code value="79457"/>
<display value="Maculopapular cutaneous mastocytosis"/>
</concept>
<concept>
<code value="79466"/>
<display value="Inflammatory linear verrucous epidermal nevus"/>
</concept>
<concept>
<code value="79467"/>
<display value="Verrucous nevus"/>
</concept>
<concept>
<code value="79468"/>
<display value="Acanthokeratolytic verrucous nevus"/>
</concept>
<concept>
<code value="79473"/>
<display value="Variegate porphyria"/>
</concept>
<concept>
<code value="79474"/>
<display value="Atypical Werner syndrome"/>
</concept>
<concept>
<code value="79476"/>
<display value="Griscelli syndrome type 1"/>
</concept>
<concept>
<code value="79477"/>
<display value="Griscelli syndrome type 2"/>
</concept>
<concept>
<code value="79478"/>
<display value="Griscelli syndrome type 3"/>
</concept>
<concept>
<code value="79479"/>
<display value="Pemphigus vegetans"/>
</concept>
<concept>
<code value="79480"/>
<display value="Pemphigus erythematosus"/>
</concept>
<concept>
<code value="79481"/>
<display value="Pemphigus foliaceus"/>
</concept>
<concept>
<code value="79483"/>
<display value="Phakomatosis cesioflammea"/>
</concept>
<concept>
<code value="79484"/>
<display value="Phakomatosis cesiomarmorata"/>
</concept>
<concept>
<code value="79485"/>
<display value="Phakomatosis spilorosea"/>
</concept>
<concept>
<code value="79489"/>
<display value="Macrocystic lymphatic malformation"/>
</concept>
<concept>
<code value="79490"/>
<display value="Microcystic lymphatic malformation"/>
</concept>
<concept>
<code value="79492"/>
<display value="Pili gemini"/>
</concept>
<concept>
<code value="79493"/>
<display value="Brooke-Spiegler syndrome"/>
</concept>
<concept>
<code value="79495"/>
<display value="X-linked congenital generalized hypertrichosis"/>
</concept>
<concept>
<code value="79499"/>
<display
value="Autosomal dominant deafness-onychodystrophy syndrome"/>
</concept>
<concept>
<code value="79500"/>
<display value="DOORS syndrome"/>
</concept>
<concept>
<code value="79501"/>
<display value="Punctate palmoplantar keratoderma type 1"/>
</concept>
<concept>
<code value="79502"/>
<display value="Punctate palmoplantar keratoderma type 2"/>
</concept>
<concept>
<code value="79503"/>
<display value="Ichthyosis hystrix of Curth-Macklin"/>
</concept>
<concept>
<code value="79507"/>
<display value="Hypotonia-failure to thrive-microcephaly syndrome"/>
</concept>
<concept>
<code value="796"/>
<display value="Sandhoff disease"/>
</concept>
<concept>
<code value="79643"/>
<display
value="Autosomal recessive hyperinsulinism due to SUR1 deficiency"/>
</concept>
<concept>
<code value="79644"/>
<display
value="Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"/>
</concept>
<concept>
<code value="79651"/>
<display value="Mild hyperphenylalaninemia"/>
</concept>
<concept>
<code value="797"/>
<display value="Sarcoidosis"/>
</concept>
<concept>
<code value="798"/>
<display value="Schinzel-Giedion syndrome"/>
</concept>
<concept>
<code value="799"/>
<display value="Schizencephaly"/>
</concept>
<concept>
<code value="8"/>
<display value="47,XYY syndrome"/>
</concept>
<concept>
<code value="80"/>
<display value="Antiphospholipid syndrome"/>
</concept>
<concept>
<code value="800"/>
<display value="Schwartz-Jampel syndrome"/>
</concept>
<concept>
<code value="803"/>
<display value="Amyotrophic lateral sclerosis"/>
</concept>
<concept>
<code value="805"/>
<display value="Tuberous sclerosis complex"/>
</concept>
<concept>
<code value="806"/>
<display value="Scott syndrome"/>
</concept>
<concept>
<code value="808"/>
<display value="Seckel syndrome"/>
</concept>
<concept>
<code value="809"/>
<display value="Mixed connective tissue disease"/>
</concept>
<concept>
<code value="81"/>
<display value="Antisynthetase syndrome"/>
</concept>
<concept>
<code value="810"/>
<display value="Shigellosis"/>
</concept>
<concept>
<code value="811"/>
<display value="Shwachman-Diamond syndrome"/>
</concept>
<concept>
<code value="812"/>
<display value="Sialidosis type 1"/>
</concept>
<concept>
<code value="813"/>
<display value="Silver-Russell syndrome"/>
</concept>
<concept>
<code value="816"/>
<display value="Sjögren-Larsson syndrome"/>
</concept>
<concept>
<code value="818"/>
<display value="Smith-Lemli-Opitz syndrome"/>
</concept>
<concept>
<code value="819"/>
<display value="Smith-Magenis syndrome"/>
</concept>
<concept>
<code value="82"/>
<display
value="Hereditary thrombophilia due to congenital antithrombin deficiency"/>
</concept>
<concept>
<code value="820"/>
<display value="Sneddon syndrome"/>
</concept>
<concept>
<code value="821"/>
<display value="Sotos syndrome"/>
</concept>
<concept>
<code value="822"/>
<display value="Hereditary spherocytosis"/>
</concept>
<concept>
<code value="824"/>
<display value="Primary myelofibrosis"/>
</concept>
<concept>
<code value="826"/>
<display value="Sporotrichosis"/>
</concept>
<concept>
<code value="827"/>
<display value="Stargardt disease"/>
</concept>
<concept>
<code value="828"/>
<display value="Stickler syndrome"/>
</concept>
<concept>
<code value="829"/>
<display value="Adult-onset Still disease"/>
</concept>
<concept>
<code value="83"/>
<display value="Antley-Bixler syndrome"/>
</concept>
<concept>
<code value="831"/>
<display value="Congenital cervical spinal stenosis"/>
</concept>
<concept>
<code value="832"/>
<display value="Succinyl-CoA:3-oxoacid CoA transferase deficiency"/>
</concept>
<concept>
<code value="833"/>
<display value="Encephalopathy due to sulfite oxidase deficiency"/>
</concept>
<concept>
<code value="83311"/>
<display value="Rocky Mountain spotted fever"/>
</concept>
<concept>
<code value="83312"/>
<display value="Rickettsialpox"/>
</concept>
<concept>
<code value="83313"/>
<display value="Boutonneuse fever"/>
</concept>
<concept>
<code value="83314"/>
<display value="Epidemic typhus"/>
</concept>
<concept>
<code value="83315"/>
<display value="Murine typhus"/>
</concept>
<concept>
<code value="83316"/>
<display value="Pseudotyphus of California"/>
</concept>
<concept>
<code value="83317"/>
<display value="Scrub typhus"/>
</concept>
<concept>
<code value="83330"/>
<display value="Proximal spinal muscular atrophy type 1"/>
</concept>
<concept>
<code value="834"/>
<display value="Free sialic acid storage disease"/>
</concept>
<concept>
<code value="83418"/>
<display value="Proximal spinal muscular atrophy type 2"/>
</concept>
<concept>
<code value="83419"/>
<display value="Proximal spinal muscular atrophy type 3"/>
</concept>
<concept>
<code value="83420"/>
<display value="Proximal spinal muscular atrophy type 4"/>
</concept>
<concept>
<code value="83450"/>
<display value="Regional odontodysplasia"/>
</concept>
<concept>
<code value="83451"/>
<display value="Florid cemento-osseous dysplasia"/>
</concept>
<concept>
<code value="83452"/>
<display value="Complex regional pain syndrome"/>
</concept>
<concept>
<code value="83453"/>
<display value="Vulvovaginal gingival syndrome"/>
</concept>
<concept>
<code value="83454"/>
<display value="Glomuvenous malformation"/>
</concept>
<concept>
<code value="83461"/>
<display value="Congenital primary aphakia"/>
</concept>
<concept>
<code value="83463"/>
<display value="Microtia"/>
</concept>
<concept>
<code value="83465"/>
<display value="Narcolepsy type 2"/>
</concept>
<concept>
<code value="83467"/>
<display value="Morvan syndrome"/>
</concept>
<concept>
<code value="83468"/>
<display value="Solitary bone cyst"/>
</concept>
<concept>
<code value="83469"/>
<display value="Desmoplastic small round cell tumor"/>
</concept>
<concept>
<code value="83471"/>
<display value="T-cell immunodeficiency with thymic aplasia"/>
</concept>
<concept>
<code value="83472"/>
<display value="CAMOS syndrome"/>
</concept>
<concept>
<code value="83473"/>
<display
value="Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"/>
</concept>
<concept>
<code value="83476"/>
<display value="West-Nile encephalitis"/>
</concept>
<concept>
<code value="83482"/>
<display value="Mycoplasma encephalitis"/>
</concept>
<concept>
<code value="83483"/>
<display value="La Crosse encephalitis"/>
</concept>
<concept>
<code value="83484"/>
<display value="St. Louis encephalitis"/>
</concept>
<concept>
<code value="83593"/>
<display value="Western equine encephalitis"/>
</concept>
<concept>
<code value="83594"/>
<display value="Eastern equine encephalitis"/>
</concept>
<concept>
<code value="83595"/>
<display value="Colorado tick fever"/>
</concept>
<concept>
<code value="83597"/>
<display value="Acute disseminated encephalomyelitis"/>
</concept>
<concept>
<code value="83600"/>
<display value="Encephalitis lethargica"/>
</concept>
<concept>
<code value="83601"/>
<display
value="Steroid-responsive encephalopathy associated with autoimmune thyroiditis"/>
</concept>
<concept>
<code value="83616"/>
<display value="Rubella panencephalitis"/>
</concept>
<concept>
<code value="83617"/>
<display
value="Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"/>
</concept>
<concept>
<code value="83619"/>
<display
value="Macrostomia-preauricular tags-external ophthalmoplegia syndrome"/>
</concept>
<concept>
<code value="83620"/>
<display value="Enteric anendocrinosis"/>
</concept>
<concept>
<code value="83628"/>
<display value="LUMBAR syndrome"/>
</concept>
<concept>
<code value="83629"/>
<display
value="Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"/>
</concept>
<concept>
<code value="83639"/>
<display
value="Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"/>
</concept>
<concept>
<code value="83642"/>
<display value="Microcytic anemia with liver iron overload"/>
</concept>
<concept>
<code value="838"/>
<display value="Susac syndrome"/>
</concept>
<concept>
<code value="839"/>
<display value="Congenital nephrotic syndrome, Finnish type"/>
</concept>
<concept>
<code value="84"/>
<display value="Fanconi anemia"/>
</concept>
<concept>
<code value="840"/>
<display value="Syringocystadenoma papilliferum"/>
</concept>
<concept>
<code value="84064"/>
<display value="Syndromic diarrhea"/>
</concept>
<concept>
<code value="84065"/>
<display
value="Idiopathic malabsorption due to bile acid synthesis defects"/>
</concept>
<concept>
<code value="84081"/>
<display value="Senior-Boichis syndrome"/>
</concept>
<concept>
<code value="84085"/>
<display value="Hinman syndrome"/>
</concept>
<concept>
<code value="84087"/>
<display value="Collagen type III glomerulopathy"/>
</concept>
<concept>
<code value="84090"/>
<display value="Fibronectin glomerulopathy"/>
</concept>
<concept>
<code value="84093"/>
<display value="Hereditary thermosensitive neuropathy"/>
</concept>
<concept>
<code value="841"/>
<display value="Sebocystomatosis"/>
</concept>
<concept>
<code value="84132"/>
<display
value="Desmin-related myopathy with Mallory body-like inclusions"/>
</concept>
<concept>
<code value="84142"/>
<display value="Isaacs syndrome"/>
</concept>
<concept>
<code value="842"/>
<display value="Testicular seminomatous germ cell tumor"/>
</concept>
<concept>
<code value="845"/>
<display value="Tay-Sachs disease"/>
</concept>
<concept>
<code value="846"/>
<display value="Alpha-thalassemia"/>
</concept>
<concept>
<code value="847"/>
<display
value="X-linked alpha-thalassemia-intellectual disability syndrome"/>
</concept>
<concept>
<code value="848"/>
<display value="Beta-thalassemia"/>
</concept>
<concept>
<code value="849"/>
<display value="Glanzmann thrombasthenia"/>
</concept>
<concept>
<code value="851"/>
<display value="Paris-Trousseau thrombocytopenia"/>
</concept>
<concept>
<code value="85110"/>
<display
value="Familial encephalopathy with neuroserpin inclusion bodies"/>
</concept>
<concept>
<code value="85112"/>
<display
value="Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"/>
</concept>
<concept>
<code value="85128"/>
<display value="Bothnia retinal dystrophy"/>
</concept>
<concept>
<code value="85136"/>
<display value="Cystic leukoencephalopathy without megalencephaly"/>
</concept>
<concept>
<code value="85138"/>
<display value="Addison disease"/>
</concept>
<concept>
<code value="85146"/>
<display value="Neurogenic scapuloperoneal syndrome, Kaeser type"/>
</concept>
<concept>
<code value="85162"/>
<display value="Facial onset sensory and motor neuronopathy"/>
</concept>
<concept>
<code value="85163"/>
<display value="Hypomyelination-congenital cataract syndrome"/>
</concept>
<concept>
<code value="85164"/>
<display
value="Camptodactyly-tall stature-scoliosis-hearing loss syndrome"/>
</concept>
<concept>
<code value="85165"/>
<display
value="Severe achondroplasia-developmental delay-acanthosis nigricans syndrome"/>
</concept>
<concept>
<code value="85166"/>
<display value="Platyspondylic dysplasia, Torrance type"/>
</concept>
<concept>
<code value="85167"/>
<display
value="Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"/>
</concept>
<concept>
<code value="85168"/>
<display value="Craniofacial conodysplasia"/>
</concept>
<concept>
<code value="85169"/>
<display value="Familial digital arthropathy-brachydactyly"/>
</concept>
<concept>
<code value="85170"/>
<display value="Mesomelic dysplasia, Savarirayan type"/>
</concept>
<concept>
<code value="85172"/>
<display
value="Microcephalic osteodysplastic dysplasia, Saul-Wilson type"/>
</concept>
<concept>
<code value="85173"/>
<display value="IMAGe syndrome"/>
</concept>
<concept>
<code value="85174"/>
<display value="Pseudodiastrophic dysplasia"/>
</concept>
<concept>
<code value="85175"/>
<display value="Astley-Kendall dysplasia"/>
</concept>
<concept>
<code value="85179"/>
<display value="Infantile osteopetrosis with neuroaxonal dysplasia"/>
</concept>
<concept>
<code value="85182"/>
<display
value="Diaphyseal medullary stenosis-bone malignancy syndrome"/>
</concept>
<concept>
<code value="85184"/>
<display value="Craniometadiaphyseal dysplasia, wormian bone type"/>
</concept>
<concept>
<code value="85186"/>
<display value="Endosteal sclerosis-cerebellar hypoplasia syndrome"/>
</concept>
<concept>
<code value="85188"/>
<display value="Metaphyseal dysplasia, Braun-Tinschert type"/>
</concept>
<concept>
<code value="85191"/>
<display value="Singleton-Merten dysplasia"/>
</concept>
<concept>
<code value="85192"/>
<display value="Calvarial doughnut lesions-bone fragility syndrome"/>
</concept>
<concept>
<code value="85193"/>
<display value="Idiopathic juvenile osteoporosis"/>
</concept>
<concept>
<code value="85194"/>
<display value="Spondylo-ocular syndrome"/>
</concept>
<concept>
<code value="85195"/>
<display value="Familial expansile osteolysis"/>
</concept>
<concept>
<code value="85197"/>
<display value="Genochondromatosis type 1"/>
</concept>
<concept>
<code value="85198"/>
<display value="Dysspondyloenchondromatosis"/>
</concept>
<concept>
<code value="85199"/>
<display
value="Craniosynostosis-anal anomalies-porokeratosis syndrome"/>
</concept>
<concept>
<code value="852"/>
<display value="X-linked thrombocytopenia with normal platelets"/>
</concept>
<concept>
<code value="85201"/>
<display value="Genitopatellar syndrome"/>
</concept>
<concept>
<code value="85202"/>
<display value="Keutel syndrome"/>
</concept>
<concept>
<code value="85203"/>
<display value="Acropectoral syndrome"/>
</concept>
<concept>
<code value="85212"/>
<display value="Fetal Gaucher disease"/>
</concept>
<concept>
<code value="85273"/>
<display value="X-linked intellectual disability, Abidi type"/>
</concept>
<concept>
<code value="85274"/>
<display value="Syndromic X-linked intellectual disability 7"/>
</concept>
<concept>
<code value="85275"/>
<display
value="Microphthalmia-ankyloblepharon-intellectual disability syndrome"/>
</concept>
<concept>
<code value="85276"/>
<display value="X-linked intellectual disability, Armfield type"/>
</concept>
<concept>
<code value="85277"/>
<display value="X-linked intellectual disability, Cantagrel type"/>
</concept>
<concept>
<code value="85278"/>
<display value="Christianson syndrome"/>
</concept>
<concept>
<code value="85279"/>
<display
value="KDM5C-related syndromic X-linked intellectual disability"/>
</concept>
<concept>
<code value="85280"/>
<display
value="X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"/>
</concept>
<concept>
<code value="85282"/>
<display value="MEHMO syndrome"/>
</concept>
<concept>
<code value="85283"/>
<display
value="X-linked intellectual disability, Miles-Carpenter type"/>
</concept>
<concept>
<code value="85284"/>
<display value="BRESEK syndrome"/>
</concept>
<concept>
<code value="85285"/>
<display value="X-linked intellectual disability, Schimke type"/>
</concept>
<concept>
<code value="85286"/>
<display value="X-linked intellectual disability, Shashi type"/>
</concept>
<concept>
<code value="85287"/>
<display value="X-linked intellectual disability, Siderius type"/>
</concept>
<concept>
<code value="85288"/>
<display
value="X-linked intellectual disability, Stocco Dos Santos type"/>
</concept>
<concept>
<code value="85290"/>
<display value="X-linked intellectual disability, Wilson type"/>
</concept>
<concept>
<code value="85292"/>
<display value="X-linked spinocerebellar ataxia type 4"/>
</concept>
<concept>
<code value="85293"/>
<display value="X-linked intellectual disability, Cabezas type"/>
</concept>
<concept>
<code value="85294"/>
<display
value="X-linked epilepsy-learning disabilities-behavior disorders syndrome"/>
</concept>
<concept>
<code value="85295"/>
<display value="HSD10 disease, atypical type"/>
</concept>
<concept>
<code value="85297"/>
<display value="X-linked spinocerebellar ataxia type 3"/>
</concept>
<concept>
<code value="853"/>
<display value="Fetal and neonatal alloimmune thrombocytopenia"/>
</concept>
<concept>
<code value="85317"/>
<display
value="X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"/>
</concept>
<concept>
<code value="85319"/>
<display
value="X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"/>
</concept>
<concept>
<code value="85320"/>
<display
value="X-linked intellectual disability-macrocephaly-macroorchidism syndrome"/>
</concept>
<concept>
<code value="85321"/>
<display
value="Deafness-intellectual disability syndrome, Martin-Probst type"/>
</concept>
<concept>
<code value="85322"/>
<display value="X-linked intellectual disability, Pai type"/>
</concept>
<concept>
<code value="85323"/>
<display value="X-linked intellectual disability, Seemanova type"/>
</concept>
<concept>
<code value="85324"/>
<display value="X-linked intellectual disability, Shrimpton type"/>
</concept>
<concept>
<code value="85325"/>
<display value="X-linked intellectual disability, Stevenson type"/>
</concept>
<concept>
<code value="85326"/>
<display value="X-linked intellectual disability, Stoll type"/>
</concept>
<concept>
<code value="85327"/>
<display
value="X-linked intellectual disability-acromegaly-hyperactivity syndrome"/>
</concept>
<concept>
<code value="85329"/>
<display
value="X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"/>
</concept>
<concept>
<code value="85332"/>
<display
value="X-linked intellectual disability-retinitis pigmentosa syndrome"/>
</concept>
<concept>
<code value="85334"/>
<display value="X-linked neurodegenerative syndrome, Bertini type"/>
</concept>
<concept>
<code value="85335"/>
<display value="Fried syndrome"/>
</concept>
<concept>
<code value="85336"/>
<display value="X-linked neurodegenerative syndrome, Hamel type"/>
</concept>
<concept>
<code value="85338"/>
<display
value="X-linked intellectual disability-ataxia-apraxia syndrome"/>
</concept>
<concept>
<code value="854"/>
<display
value="Non-malignant and non-cirrhotic portal vein thrombosis"/>
</concept>
<concept>
<code value="85408"/>
<display
value="Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"/>
</concept>
<concept>
<code value="85410"/>
<display value="Oligoarticular juvenile idiopathic arthritis"/>
</concept>
<concept>
<code value="85414"/>
<display value="Systemic-onset juvenile idiopathic arthritis"/>
</concept>
<concept>
<code value="85435"/>
<display
value="Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"/>
</concept>
<concept>
<code value="85436"/>
<display value="Psoriasis-related juvenile idiopathic arthritis"/>
</concept>
<concept>
<code value="85438"/>
<display value="Enthesitis-related juvenile idiopathic arthritis"/>
</concept>
<concept>
<code value="85442"/>
<display
value="Short stature-pituitary and cerebellar defects-small sella turcica syndrome"/>
</concept>
<concept>
<code value="85443"/>
<display value="AL amyloidosis"/>
</concept>
<concept>
<code value="85445"/>
<display value="AA amyloidosis"/>
</concept>
<concept>
<code value="85446"/>
<display value="Wild type ABeta2M amyloidosis"/>
</concept>
<concept>
<code value="85447"/>
<display value="ATTRV30M amyloidosis"/>
</concept>
<concept>
<code value="85448"/>
<display value="AGel amyloidosis"/>
</concept>
<concept>
<code value="85450"/>
<display
value="Hereditary amyloidosis with primary renal involvement"/>
</concept>
<concept>
<code value="85451"/>
<display value="ATTRV122I amyloidosis"/>
</concept>
<concept>
<code value="85453"/>
<display value="X-linked reticulate pigmentary disorder"/>
</concept>
<concept>
<code value="85458"/>
<display value="Cerebral Amyloid Angiopathy"/>
</concept>
<concept>
<code value="857"/>
<display value="Townes-Brocks syndrome"/>
</concept>
<concept>
<code value="858"/>
<display value="Congenital toxoplasmosis"/>
</concept>
<concept>
<code value="859"/>
<display value="Transcobalamin deficiency"/>
</concept>
<concept>
<code value="86"/>
<display value="Familial abdominal aortic aneurysm"/>
</concept>
<concept>
<code value="860"/>
<display
value="Congenitally uncorrected transposition of the great arteries"/>
</concept>
<concept>
<code value="861"/>
<display value="Treacher-Collins syndrome"/>
</concept>
<concept>
<code value="863"/>
<display value="Trichinellosis"/>
</concept>
<concept>
<code value="86309"/>
<display value="DPAGT1-CDG"/>
</concept>
<concept>
<code value="864"/>
<display value="Trichofolliculoma"/>
</concept>
<concept>
<code value="867"/>
<display value="Familial multiple trichoepithelioma"/>
</concept>
<concept>
<code value="86788"/>
<display value="X-linked severe congenital neutropenia"/>
</concept>
<concept>
<code value="86789"/>
<display value="Isolated patella aplasia/hypoplasia"/>
</concept>
<concept>
<code value="86797"/>
<display value="Atypical lichen myxedematosus"/>
</concept>
<concept>
<code value="868"/>
<display value="Triose phosphate-isomerase deficiency"/>
</concept>
<concept>
<code value="86812"/>
<display value="POMT1-related limb-girdle muscular dystrophy R11"/>
</concept>
<concept>
<code value="86813"/>
<display value="Helicoid peripapillary chorioretinal degeneration"/>
</concept>
<concept>
<code value="86814"/>
<display value="Familial adult myoclonic epilepsy"/>
</concept>
<concept>
<code value="86815"/>
<display value="Aplasia of lacrimal and salivary glands"/>
</concept>
<concept>
<code value="86816"/>
<display value="Congenital analbuminemia"/>
</concept>
<concept>
<code value="86817"/>
<display value="Hemolytic anemia due to adenylate kinase deficiency"/>
</concept>
<concept>
<code value="86818"/>
<display
value="Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"/>
</concept>
<concept>
<code value="86819"/>
<display value="Atrichia with papular lesions"/>
</concept>
<concept>
<code value="86820"/>
<display value="Familial avascular necrosis of femoral head"/>
</concept>
<concept>
<code value="86821"/>
<display
value="Lissencephaly type 3-familial fetal akinesia sequence syndrome"/>
</concept>
<concept>
<code value="86822"/>
<display
value="Lissencephaly type 3-metacarpal bone dysplasia syndrome"/>
</concept>
<concept>
<code value="86829"/>
<display value="Chronic neutrophilic leukemia"/>
</concept>
<concept>
<code value="86830"/>
<display value="Chronic myeloproliferative disease, unclassifiable"/>
</concept>
<concept>
<code value="86834"/>
<display value="Juvenile myelomonocytic leukemia"/>
</concept>
<concept>
<code value="86839"/>
<display value="Myelodysplastic neoplasm with increased blasts"/>
</concept>
<concept>
<code value="86841"/>
<display
value="Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"/>
</concept>
<concept>
<code value="86843"/>
<display value="Acute panmyelosis with myelofibrosis"/>
</concept>
<concept>
<code value="86845"/>
<display
value="Acute myeloid leukaemia with myelodysplasia-related features"/>
</concept>
<concept>
<code value="86849"/>
<display value="Acute basophilic leukemia"/>
</concept>
<concept>
<code value="86850"/>
<display value="Myeloid sarcoma"/>
</concept>
<concept>
<code value="86852"/>
<display value="B-cell prolymphocytic leukemia"/>
</concept>
<concept>
<code value="86854"/>
<display value="Splenic marginal zone lymphoma"/>
</concept>
<concept>
<code value="86855"/>
<display value="Plasmacytoma"/>
</concept>
<concept>
<code value="86861"/>
<display
value="Non-amyloid monoclonal immunoglobulin deposition disease"/>
</concept>
<concept>
<code value="86864"/>
<display value="Heavy chain disease"/>
</concept>
<concept>
<code value="86867"/>
<display value="Nodal marginal zone B-cell lymphoma"/>
</concept>
<concept>
<code value="86869"/>
<display value="Lymphomatoid granulomatosis"/>
</concept>
<concept>
<code value="86870"/>
<display value="Blastic plasmacytoid dendritic cell neoplasm"/>
</concept>
<concept>
<code value="86871"/>
<display value="T-cell prolymphocytic leukemia"/>
</concept>
<concept>
<code value="86872"/>
<display value="T-cell large granular lymphocyte leukemia"/>
</concept>
<concept>
<code value="86873"/>
<display value="Aggressive NK-cell leukemia"/>
</concept>
<concept>
<code value="86875"/>
<display value="Adult T-cell leukemia/lymphoma"/>
</concept>
<concept>
<code value="86879"/>
<display value="Extranodal nasal NK/T cell lymphoma"/>
</concept>
<concept>
<code value="86880"/>
<display value="Enteropathy-associated T-cell lymphoma"/>
</concept>
<concept>
<code value="86882"/>
<display value="Hepatosplenic T-cell lymphoma"/>
</concept>
<concept>
<code value="86884"/>
<display value="Subcutaneous panniculitis-like T-cell lymphoma"/>
</concept>
<concept>
<code value="86885"/>
<display
value="Primary cutaneous peripheral T-cell lymphoma not otherwise specified"/>
</concept>
<concept>
<code value="86886"/>
<display value="Angioimmunoblastic T-cell lymphoma"/>
</concept>
<concept>
<code value="86893"/>
<display value="Nodular lymphocyte predominant Hodgkin lymphoma"/>
</concept>
<concept>
<code value="86896"/>
<display value="Histiocytic sarcoma"/>
</concept>
<concept>
<code value="86897"/>
<display value="Langerhans cell sarcoma"/>
</concept>
<concept>
<code value="869"/>
<display value="Triple A syndrome"/>
</concept>
<concept>
<code value="86900"/>
<display value="Interdigitating dendritic cell sarcoma"/>
</concept>
<concept>
<code value="86902"/>
<display value="Follicular dendritic cell sarcoma"/>
</concept>
<concept>
<code value="86903"/>
<display value="Dendritic cell sarcoma not otherwise specified"/>
</concept>
<concept>
<code value="86904"/>
<display
value="Methotrexate-associated lymphoproliferative disorders"/>
</concept>
<concept>
<code value="86906"/>
<display value="Gelastic seizures with hypothalamic hamartoma"/>
</concept>
<concept>
<code value="86908"/>
<display value="Hemiconvulsion-hemiplegia-epilepsy syndrome"/>
</concept>
<concept>
<code value="86909"/>
<display value="Myoclonic epilepsy of infancy"/>
</concept>
<concept>
<code value="86911"/>
<display value="Epilepsy with myoclonic absences"/>
</concept>
<concept>
<code value="86913"/>
<display
value="Myoclonic epilepsy in non-progressive encephalopathies"/>
</concept>
<concept>
<code value="86914"/>
<display
value="Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome"/>
</concept>
<concept>
<code value="86915"/>
<display
value="Lymphedema-atrial septal defects-facial changes syndrome"/>
</concept>
<concept>
<code value="86918"/>
<display
value="Diffuse palmoplantar keratoderma-acrocyanosis syndrome"/>
</concept>
<concept>
<code value="86919"/>
<display
value="Keratosis palmaris et plantaris-clinodactyly syndrome"/>
</concept>
<concept>
<code value="86920"/>
<display value="Dermatopathia pigmentosa reticularis"/>
</concept>
<concept>
<code value="87"/>
<display value="Apert syndrome"/>
</concept>
<concept>
<code value="870"/>
<display value="Down syndrome"/>
</concept>
<concept>
<code value="871"/>
<display value="Hereditary progressive cardiac conduction defect"/>
</concept>
<concept>
<code value="873"/>
<display value="Desmoid tumor"/>
</concept>
<concept>
<code value="874"/>
<display value="Primary adult heart tumor"/>
</concept>
<concept>
<code value="875"/>
<display value="Primary pediatric heart tumor"/>
</concept>
<concept>
<code value="87503"/>
<display value="Mal de Meleda"/>
</concept>
<concept>
<code value="876"/>
<display value="Yolk sac tumor"/>
</concept>
<concept>
<code value="87876"/>
<display value="Sialidosis type 2"/>
</concept>
<concept>
<code value="87884"/>
<display value="Non-syndromic genetic deafness"/>
</concept>
<concept>
<code value="879"/>
<display value="Tungiasis"/>
</concept>
<concept>
<code value="88"/>
<display value="Idiopathic aplastic anemia"/>
</concept>
<concept>
<code value="881"/>
<display value="Turner syndrome"/>
</concept>
<concept>
<code value="882"/>
<display value="Tyrosinemia type 1"/>
</concept>
<concept>
<code value="883"/>
<display value="Extragonadal teratoma"/>
</concept>
<concept>
<code value="884"/>
<display value="Pallister-Killian syndrome"/>
</concept>
<concept>
<code value="886"/>
<display value="Usher syndrome"/>
</concept>
<concept>
<code value="88616"/>
<display
value="Autosomal recessive non-syndromic intellectual disability"/>
</concept>
<concept>
<code value="88618"/>
<display value="S-adenosylhomocysteine hydrolase deficiency"/>
</concept>
<concept>
<code value="88619"/>
<display value="Familial acute necrotizing encephalopathy"/>
</concept>
<concept>
<code value="88620"/>
<display value="Isolated congenital anosmia"/>
</concept>
<concept>
<code value="88621"/>
<display value="Ichthyosis-prematurity syndrome"/>
</concept>
<concept>
<code value="88628"/>
<display
value="Posterior column ataxia-retinitis pigmentosa syndrome"/>
</concept>
<concept>
<code value="88629"/>
<display value="Tritanopia"/>
</concept>
<concept>
<code value="88630"/>
<display
value="Terminal osseous dysplasia-pigmentary defects syndrome"/>
</concept>
<concept>
<code value="88633"/>
<display value="Superior limbic keratoconjunctivitis"/>
</concept>
<concept>
<code value="88635"/>
<display
value="Vacuolar myopathy with sarcoplasmic reticulum protein aggregates"/>
</concept>
<concept>
<code value="88637"/>
<display
value="Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"/>
</concept>
<concept>
<code value="88639"/>
<display
value="Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"/>
</concept>
<concept>
<code value="88642"/>
<display
value="Congenital insensitivity to pain-anosmia-neuropathic arthropathy"/>
</concept>
<concept>
<code value="88643"/>
<display
value="Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"/>
</concept>
<concept>
<code value="88644"/>
<display value="Autosomal recessive ataxia, Beauce type"/>
</concept>
<concept>
<code value="88659"/>
<display
value="Autosomal dominant progressive nephropathy with hypertension"/>
</concept>
<concept>
<code value="88660"/>
<display
value="Hypertension due to gain-of-function mutations in the mineralocorticoid receptor"/>
</concept>
<concept>
<code value="88661"/>
<display value="Amelogenesis imperfecta"/>
</concept>
<concept>
<code value="887"/>
<display value="VACTERL/VATER association"/>
</concept>
<concept>
<code value="888"/>
<display value="Van der Woude syndrome"/>
</concept>
<concept>
<code value="889"/>
<display value="Cutaneous small vessel vasculitis"/>
</concept>
<concept>
<code value="88917"/>
<display value="X-linked Alport syndrome"/>
</concept>
<concept>
<code value="88918"/>
<display value="Autosomal dominant Alport syndrome"/>
</concept>
<concept>
<code value="88919"/>
<display value="Autosomal recessive Alport syndrome"/>
</concept>
<concept>
<code value="88924"/>
<display
value="Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"/>
</concept>
<concept>
<code value="88938"/>
<display value="Pseudohypoaldosteronism type 2A"/>
</concept>
<concept>
<code value="88939"/>
<display value="Pseudohypoaldosteronism type 2B"/>
</concept>
<concept>
<code value="88940"/>
<display value="Pseudohypoaldosteronism type 2C"/>
</concept>
<concept>
<code value="88949"/>
<display
value="MUC1-related autosomal dominant tubulointerstitial kidney disease"/>
</concept>
<concept>
<code value="88950"/>
<display
value="UMOD-related autosomal dominant tubulointerstitial kidney disease"/>
</concept>
<concept>
<code value="890"/>
<display value="Hepatic veno-occlusive disease"/>
</concept>
<concept>
<code value="891"/>
<display value="Familial exudative vitreoretinopathy"/>
</concept>
<concept>
<code value="892"/>
<display value="Von Hippel-Lindau disease"/>
</concept>
<concept>
<code value="893"/>
<display value="WAGR syndrome"/>
</concept>
<concept>
<code value="894"/>
<display value="Waardenburg syndrome type 1"/>
</concept>
<concept>
<code value="895"/>
<display value="Waardenburg syndrome type 2"/>
</concept>
<concept>
<code value="896"/>
<display value="Waardenburg syndrome type 3"/>
</concept>
<concept>
<code value="897"/>
<display value="Waardenburg-Shah syndrome"/>
</concept>
<concept>
<code value="898"/>
<display value="Wagner disease"/>
</concept>
<concept>
<code value="89838"/>
<display
value="Autosomal recessive generalized epidermolysis bullosa simplex"/>
</concept>
<concept>
<code value="89842"/>
<display
value="Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"/>
</concept>
<concept>
<code value="89843"/>
<display value="Dystrophic epidermolysis bullosa pruriginosa"/>
</concept>
<concept>
<code value="89844"/>
<display value="Lissencephaly syndrome, Norman-Roberts type"/>
</concept>
<concept>
<code value="899"/>
<display value="Walker-Warburg syndrome"/>
</concept>
<concept>
<code value="89936"/>
<display value="X-linked hypophosphatemia"/>
</concept>
<concept>
<code value="89937"/>
<display value="Autosomal dominant hypophosphatemic rickets"/>
</concept>
<concept>
<code value="89938"/>
<display value="Bartter syndrome type 4"/>
</concept>
<concept>
<code value="9"/>
<display value="Tetrasomy X syndrome"/>
</concept>
<concept>
<code value="90"/>
<display value="Argininemia"/>
</concept>
<concept>
<code value="900"/>
<display value="Granulomatosis with polyangiitis"/>
</concept>
<concept>
<code value="90000"/>
<display value="Erythema elevatum diutinum"/>
</concept>
<concept>
<code value="90001"/>
<display value="X-linked cone dysfunction syndrome with myopia"/>
</concept>
<concept>
<code value="90002"/>
<display value="Undifferentiated connective tissue syndrome"/>
</concept>
<concept>
<code value="90003"/>
<display value="Inflammatory pseudotumor of the liver"/>
</concept>
<concept>
<code value="90020"/>
<display value="Parkinson-dementia complex of Guam"/>
</concept>
<concept>
<code value="90021"/>
<display value="Radiation myelitis"/>
</concept>
<concept>
<code value="90023"/>
<display
value="Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency"/>
</concept>
<concept>
<code value="90024"/>
<display
value="Deafness with labyrinthine aplasia, microtia, and microdontia"/>
</concept>
<concept>
<code value="90026"/>
<display value="Primary erythromelalgia"/>
</concept>
<concept>
<code value="90030"/>
<display
value="Hemolytic anemia due to glutathione reductase deficiency"/>
</concept>
<concept>
<code value="90031"/>
<display
value="Non-spherocytic hemolytic anemia due to hexokinase deficiency"/>
</concept>
<concept>
<code value="90033"/>
<display value="Autoimmune hemolytic anemia, warm type"/>
</concept>
<concept>
<code value="90035"/>
<display value="Paroxysmal cold hemoglobinuria"/>
</concept>
<concept>
<code value="90036"/>
<display value="Mixed-type autoimmune hemolytic anemia"/>
</concept>
<concept>
<code value="90037"/>
<display value="Drug-induced autoimmune hemolytic anemia"/>
</concept>
<concept>
<code value="90038"/>
<display value="Shiga toxin-associated hemolytic uremic syndrome"/>
</concept>
<concept>
<code value="90039"/>
<display value="Hemoglobin D disease"/>
</concept>
<concept>
<code value="90041"/>
<display value="Gaisböck syndrome"/>
</concept>
<concept>
<code value="90042"/>
<display value="Primary familial polycythemia"/>
</concept>
<concept>
<code value="90044"/>
<display value="Familial pseudohyperkalemia"/>
</concept>
<concept>
<code value="90045"/>
<display value="Hereditary folate malabsorption"/>
</concept>
<concept>
<code value="90050"/>
<display value="Retinopathy of prematurity"/>
</concept>
<concept>
<code value="90051"/>
<display value="Sepsis in premature infants"/>
</concept>
<concept>
<code value="90052"/>
<display
value="Recurrent hepatitis C virus induced liver disease in liver transplant recipients"/>
</concept>
<concept>
<code value="90053"/>
<display
value="Complications after hematopoietic stem cell transplantation"/>
</concept>
<concept>
<code value="90056"/>
<display value="Moderate and severe traumatic brain injury"/>
</concept>
<concept>
<code value="90058"/>
<display value="Spinal cord injury"/>
</concept>
<concept>
<code value="90059"/>
<display value="Sudden sensorineural hearing loss"/>
</concept>
<concept>
<code value="90060"/>
<display value="Diffuse alveolar hemorrhage"/>
</concept>
<concept>
<code value="90062"/>
<display value="Acute liver failure"/>
</concept>
<concept>
<code value="90064"/>
<display value="Acute peripheral arterial occlusion"/>
</concept>
<concept>
<code value="90065"/>
<display value="Acquired aneurysmal subarachnoid hemorrhage"/>
</concept>
<concept>
<code value="90066"/>
<display
value="Pneumonia caused by Pseudomonas aeruginosa infection"/>
</concept>
<concept>
<code value="90068"/>
<display value="Cocaine intoxication"/>
</concept>
<concept>
<code value="90069"/>
<display value="Systemic monochloroacetate poisoning"/>
</concept>
<concept>
<code value="90073"/>
<display
value="Hepatitis B reinfection following liver transplantation"/>
</concept>
<concept>
<code value="90076"/>
<display value="Partial deep dermal and full thickness burns"/>
</concept>
<concept>
<code value="90078"/>
<display
value="Invasive infections due to vancomycin-resistant enterococci"/>
</concept>
<concept>
<code value="90080"/>
<display value="Scarring in glaucoma filtration surgical procedures"/>
</concept>
<concept>
<code value="90081"/>
<display value="AIDS wasting syndrome"/>
</concept>
<concept>
<code value="901"/>
<display value="Wells syndrome"/>
</concept>
<concept>
<code value="90103"/>
<display
value="Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome"/>
</concept>
<concept>
<code value="90117"/>
<display
value="Hereditary motor and sensory neuropathy, Okinawa type"/>
</concept>
<concept>
<code value="90118"/>
<display
value="Severe early-onset axonal neuropathy due to MFN2 deficiency"/>
</concept>
<concept>
<code value="90119"/>
<display
value="Hereditary motor and sensory neuropathy with acrodystrophy"/>
</concept>
<concept>
<code value="90120"/>
<display value="Hereditary motor and sensory neuropathy type 6"/>
</concept>
<concept>
<code value="90153"/>
<display value="Mandibuloacral dysplasia with type A lipodystrophy"/>
</concept>
<concept>
<code value="90154"/>
<display value="Mandibuloacral dysplasia with type B lipodystrophy"/>
</concept>
<concept>
<code value="90156"/>
<display value="Centrifugal lipodystrophy"/>
</concept>
<concept>
<code value="90157"/>
<display value="Drug-induced localized lipodystrophy"/>
</concept>
<concept>
<code value="90158"/>
<display value="Idiopathic localized lipodystrophy"/>
</concept>
<concept>
<code value="90159"/>
<display value="Panniculitis-induced localized lipodystrophy"/>
</concept>
<concept>
<code value="90160"/>
<display value="Pressure-induced localized lipoatrophy"/>
</concept>
<concept>
<code value="90186"/>
<display value="Meige disease"/>
</concept>
<concept>
<code value="902"/>
<display value="Werner syndrome"/>
</concept>
<concept>
<code value="90280"/>
<display value="Chilblain lupus"/>
</concept>
<concept>
<code value="90281"/>
<display value="Discoid lupus erythematosus"/>
</concept>
<concept>
<code value="90282"/>
<display value="Hypertrophic or verrucous lupus erythematosus"/>
</concept>
<concept>
<code value="90283"/>
<display value="Lupus erythematosus tumidus"/>
</concept>
<concept>
<code value="90285"/>
<display value="Lupus erythematosus panniculitis"/>
</concept>
<concept>
<code value="90289"/>
<display value="Localized scleroderma"/>
</concept>
<concept>
<code value="90291"/>
<display value="Systemic sclerosis"/>
</concept>
<concept>
<code value="903"/>
<display value="Von Willebrand disease"/>
</concept>
<concept>
<code value="90301"/>
<display
value="Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"/>
</concept>
<concept>
<code value="90307"/>
<display value="Parkes Weber syndrome"/>
</concept>
<concept>
<code value="90308"/>
<display
value="Capillary-lymphatic-venous malformation with segmental distribution"/>
</concept>
<concept>
<code value="90321"/>
<display value="Cockayne syndrome type 1"/>
</concept>
<concept>
<code value="90322"/>
<display value="Cockayne syndrome type 2"/>
</concept>
<concept>
<code value="90324"/>
<display value="Cockayne syndrome type 3"/>
</concept>
<concept>
<code value="90340"/>
<display value="Blau syndrome"/>
</concept>
<concept>
<code value="90342"/>
<display value="Xeroderma pigmentosum variant"/>
</concept>
<concept>
<code value="90348"/>
<display value="Autosomal dominant cutis laxa"/>
</concept>
<concept>
<code value="90349"/>
<display value="Autosomal recessive cutis laxa type 1"/>
</concept>
<concept>
<code value="90354"/>
<display value="Brittle cornea syndrome"/>
</concept>
<concept>
<code value="90362"/>
<display value="Primary intestinal lymphangiectasia"/>
</concept>
<concept>
<code value="90363"/>
<display value="Secondary intestinal lymphangiectasia"/>
</concept>
<concept>
<code value="90368"/>
<display value="Hypotrichosis simplex of the scalp"/>
</concept>
<concept>
<code value="90389"/>
<display value="Telangiectasia macularis eruptiva perstans"/>
</concept>
<concept>
<code value="90390"/>
<display value="Anonychia-onychodystrophy syndrome"/>
</concept>
<concept>
<code value="90393"/>
<display value="Nodular lichen myxedematosus"/>
</concept>
<concept>
<code value="90394"/>
<display value="Discrete papular lichen myxedematosus"/>
</concept>
<concept>
<code value="90395"/>
<display value="Papular mucinosis of infancy"/>
</concept>
<concept>
<code value="90396"/>
<display value="Acral persistent papular mucinosis"/>
</concept>
<concept>
<code value="90397"/>
<display value="Self-healing papular mucinosis"/>
</concept>
<concept>
<code value="90398"/>
<display
value="Localized lichen myxedematosus with mixed features of different subtypes"/>
</concept>
<concept>
<code value="90399"/>
<display
value="Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"/>
</concept>
<concept>
<code value="904"/>
<display value="Williams syndrome"/>
</concept>
<concept>
<code value="90400"/>
<display value="Scleromyxedema without monoclonal gammopathy"/>
</concept>
<concept>
<code value="905"/>
<display value="Wilson disease"/>
</concept>
<concept>
<code value="906"/>
<display value="Wiskott-Aldrich syndrome"/>
</concept>
<concept>
<code value="90625"/>
<display
value="Rare X-linked non-syndromic sensorineural deafness type DFN"/>
</concept>
<concept>
<code value="90635"/>
<display
value="Rare autosomal dominant non-syndromic sensorineural deafness type DFNA"/>
</concept>
<concept>
<code value="90636"/>
<display
value="Rare autosomal recessive non-syndromic sensorineural deafness type DFNB"/>
</concept>
<concept>
<code value="90641"/>
<display
value="Rare mitochondrial non-syndromic sensorineural deafness"/>
</concept>
<concept>
<code value="90646"/>
<display value="Deafness-hypogonadism syndrome"/>
</concept>
<concept>
<code value="90647"/>
<display value="Jervell and Lange-Nielsen syndrome"/>
</concept>
<concept>
<code value="90650"/>
<display value="Otopalatodigital syndrome type 1"/>
</concept>
<concept>
<code value="90652"/>
<display value="Otopalatodigital syndrome type 2"/>
</concept>
<concept>
<code value="90653"/>
<display value="Stickler syndrome type 1"/>
</concept>
<concept>
<code value="90654"/>
<display value="Stickler syndrome type 2"/>
</concept>
<concept>
<code value="90658"/>
<display value="Charcot-Marie-Tooth disease type 1E"/>
</concept>
<concept>
<code value="90673"/>
<display value="Hypothyroidism due to TSH receptor mutations"/>
</concept>
<concept>
<code value="90674"/>
<display value="Isolated thyroid-stimulating hormone deficiency"/>
</concept>
<concept>
<code value="90695"/>
<display value="Non-acquired panhypopituitarism"/>
</concept>
<concept>
<code value="90790"/>
<display
value="Congenital lipoid adrenal hyperplasia due to STAR deficency"/>
</concept>
<concept>
<code value="90791"/>
<display
value="Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"/>
</concept>
<concept>
<code value="90793"/>
<display
value="Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"/>
</concept>
<concept>
<code value="90794"/>
<display
value="Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"/>
</concept>
<concept>
<code value="90795"/>
<display
value="Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"/>
</concept>
<concept>
<code value="90796"/>
<display
value="46,XY difference of sex development due to isolated 17,20-lyase deficiency"/>
</concept>
<concept>
<code value="90797"/>
<display value="Partial androgen insensitivity syndrome"/>
</concept>
<concept>
<code value="908"/>
<display value="Fragile X syndrome"/>
</concept>
<concept>
<code value="909"/>
<display value="Cerebrotendinous xanthomatosis"/>
</concept>
<concept>
<code value="91"/>
<display value="Aromatase deficiency"/>
</concept>
<concept>
<code value="910"/>
<display value="Xeroderma pigmentosum"/>
</concept>
<concept>
<code value="911"/>
<display value="Combined immunodeficiency due to ZAP70 deficiency"/>
</concept>
<concept>
<code value="91127"/>
<display value="Adenovirus infection in immunocompromised patients"/>
</concept>
<concept>
<code value="91130"/>
<display value="Cardiomyopathy-hypotonia-lactic acidosis syndrome"/>
</concept>
<concept>
<code value="91131"/>
<display value="DK1-CDG"/>
</concept>
<concept>
<code value="91132"/>
<display value="Ichthyosis-hypotrichosis syndrome"/>
</concept>
<concept>
<code value="91135"/>
<display
value="Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"/>
</concept>
<concept>
<code value="91136"/>
<display
value="Acquired monoclonal Ig light chain-associated Fanconi syndrome"/>
</concept>
<concept>
<code value="91138"/>
<display value="Cryoglobulinemic vasculitis"/>
</concept>
<concept>
<code value="91139"/>
<display value="Simple cryoglobulinemia"/>
</concept>
<concept>
<code value="91140"/>
<display value="Unspecified juvenile idiopathic arthritis"/>
</concept>
<concept>
<code value="912"/>
<display value="Zellweger syndrome"/>
</concept>
<concept>
<code value="913"/>
<display value="Zollinger-Ellison syndrome"/>
</concept>
<concept>
<code value="91347"/>
<display value="TSH-secreting pituitary adenoma"/>
</concept>
<concept>
<code value="91348"/>
<display value="Functioning gonadotropic adenoma"/>
</concept>
<concept>
<code value="91349"/>
<display value="Non-functioning pituitary adenoma"/>
</concept>
<concept>
<code value="91350"/>
<display value="Pituitary deficiency due to Rathke cleft cysts"/>
</concept>
<concept>
<code value="91351"/>
<display value="Pituitary dermoid and epidermoid cysts"/>
</concept>
<concept>
<code value="91352"/>
<display value="Germinoma of the central nervous system"/>
</concept>
<concept>
<code value="91354"/>
<display
value="Pituitary deficiency due to empty sella turcica syndrome"/>
</concept>
<concept>
<code value="91355"/>
<display value="Sheehan syndrome"/>
</concept>
<concept>
<code value="91358"/>
<display value="Congenital esophageal diverticulum"/>
</concept>
<concept>
<code value="91359"/>
<display value="Chronic pneumonitis of infancy"/>
</concept>
<concept>
<code value="91364"/>
<display value="Non-specific interstitial pneumonia"/>
</concept>
<concept>
<code value="91387"/>
<display
value="Familial thoracic aortic aneurysm and aortic dissection"/>
</concept>
<concept>
<code value="91396"/>
<display value="Isolated cryptophthalmia"/>
</concept>
<concept>
<code value="91397"/>
<display value="Isolated ankyloblepharon filiforme adnatum"/>
</concept>
<concept>
<code value="91411"/>
<display value="Congenital ptosis"/>
</concept>
<concept>
<code value="91412"/>
<display value="Marcus-Gunn syndrome"/>
</concept>
<concept>
<code value="91413"/>
<display value="Congenital Horner syndrome"/>
</concept>
<concept>
<code value="91414"/>
<display value="Pilomatrixoma"/>
</concept>
<concept>
<code value="91416"/>
<display value="Isolated congenital alacrima"/>
</concept>
<concept>
<code value="91481"/>
<display value="Ring dermoid of cornea"/>
</concept>
<concept>
<code value="91483"/>
<display value="Rieger anomaly"/>
</concept>
<concept>
<code value="91489"/>
<display value="Isolated congenital megalocornea"/>
</concept>
<concept>
<code value="91490"/>
<display value="Isolated congenital sclerocornea"/>
</concept>
<concept>
<code value="91491"/>
<display value="Congenital ectropion uveae"/>
</concept>
<concept>
<code value="91492"/>
<display value="Early onset non-syndromic cataract"/>
</concept>
<concept>
<code value="91494"/>
<display
value="Macular coloboma-cleft palate-hallux valgus syndrome"/>
</concept>
<concept>
<code value="91495"/>
<display value="Persistent hyperplastic primary vitreous"/>
</concept>
<concept>
<code value="91496"/>
<display value="Snowflake vitreoretinal degeneration"/>
</concept>
<concept>
<code value="91498"/>
<display value="Familial congenital palsy of trochlear nerve"/>
</concept>
<concept>
<code value="915"/>
<display value="Aarskog-Scott syndrome"/>
</concept>
<concept>
<code value="91500"/>
<display value="Tubulointerstitial nephritis and uveitis syndrome"/>
</concept>
<concept>
<code value="91546"/>
<display value="Lyme disease"/>
</concept>
<concept>
<code value="91547"/>
<display value="Relapsing fever"/>
</concept>
<concept>
<code value="916"/>
<display value="Aase-Smith syndrome"/>
</concept>
<concept>
<code value="920"/>
<display value="Ablepharon macrostomia syndrome"/>
</concept>
<concept>
<code value="92050"/>
<display value="Congenital tufting enteropathy"/>
</concept>
<concept>
<code value="921"/>
<display value="Abruzzo-Erickson syndrome"/>
</concept>
<concept>
<code value="922"/>
<display value="Familial nasal acilia"/>
</concept>
<concept>
<code value="926"/>
<display value="Acatalasemia"/>
</concept>
<concept>
<code value="927"/>
<display
value="Hyperammonemia due to N-acetylglutamate synthase deficiency"/>
</concept>
<concept>
<code value="929"/>
<display value="Achalasia-microcephaly syndrome"/>
</concept>
<concept>
<code value="93"/>
<display value="Aspartylglucosaminuria"/>
</concept>
<concept>
<code value="930"/>
<display value="Idiopathic achalasia"/>
</concept>
<concept>
<code value="931"/>
<display value="Isolated acheiropodia"/>
</concept>
<concept>
<code value="93100"/>
<display value="Renal agenesis, unilateral"/>
</concept>
<concept>
<code value="93101"/>
<display value="Renal hypoplasia"/>
</concept>
<concept>
<code value="93108"/>
<display value="Renal dysplasia"/>
</concept>
<concept>
<code value="93109"/>
<display value="Congenital megacalycosis"/>
</concept>
<concept>
<code value="93110"/>
<display value="Posterior urethral valve"/>
</concept>
<concept>
<code value="93111"/>
<display
value="HNF1B-related autosomal dominant tubulointerstitial kidney disease"/>
</concept>
<concept>
<code value="93114"/>
<display
value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"/>
</concept>
<concept>
<code value="93126"/>
<display value="Pauci-immune glomerulonephritis"/>
</concept>
<concept>
<code value="93160"/>
<display value="Hypocalcemic vitamin D-resistant rickets"/>
</concept>
<concept>
<code value="93164"/>
<display value="Transient pseudohypoaldosteronism"/>
</concept>
<concept>
<code value="93172"/>
<display value="Renal dysplasia, unilateral"/>
</concept>
<concept>
<code value="93173"/>
<display value="Renal dysplasia, bilateral"/>
</concept>
<concept>
<code value="93176"/>
<display value="Unilateral congenital megacalycosis"/>
</concept>
<concept>
<code value="93177"/>
<display value="Congenital bilateral megacalycosis"/>
</concept>
<concept>
<code value="932"/>
<display value="Achondrogenesis"/>
</concept>
<concept>
<code value="93256"/>
<display value="Fragile X-associated tremor/ataxia syndrome"/>
</concept>
<concept>
<code value="93258"/>
<display value="Pfeiffer syndrome type 1"/>
</concept>
<concept>
<code value="93259"/>
<display value="Pfeiffer syndrome type 2"/>
</concept>
<concept>
<code value="93260"/>
<display value="Pfeiffer syndrome type 3"/>
</concept>
<concept>
<code value="93262"/>
<display value="Crouzon syndrome-acanthosis nigricans syndrome"/>
</concept>
<concept>
<code value="93267"/>
<display
value="Cloverleaf skull-multiple congenital anomalies syndrome"/>
</concept>
<concept>
<code value="93268"/>
<display value="Short rib-polydactyly syndrome, Beemer-Langer type"/>
</concept>
<concept>
<code value="93269"/>
<display value="Short rib-polydactyly syndrome, Majewski type"/>
</concept>
<concept>
<code value="93270"/>
<display value="Short rib-polydactyly syndrome, Saldino-Noonan type"/>
</concept>
<concept>
<code value="93271"/>
<display value="Short rib-polydactyly syndrome, Verma-Naumoff type"/>
</concept>
<concept>
<code value="93274"/>
<display value="Thanatophoric dysplasia type 2"/>
</concept>
<concept>
<code value="93276"/>
<display value="Polyostotic fibrous dysplasia"/>
</concept>
<concept>
<code value="93277"/>
<display value="Monostotic fibrous dysplasia"/>
</concept>
<concept>
<code value="93279"/>
<display
value="Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"/>
</concept>
<concept>
<code value="93282"/>
<display value="Spondyloepimetaphyseal dysplasia, PAPSS2 type"/>
</concept>
<concept>
<code value="93283"/>
<display value="Spondyloepiphyseal dysplasia, Kimberley type"/>
</concept>
<concept>
<code value="93284"/>
<display value="Spondyloepiphyseal dysplasia tarda"/>
</concept>
<concept>
<code value="93292"/>
<display value="Adenoma of pancreas"/>
</concept>
<concept>
<code value="93293"/>
<display value="Okihiro syndrome"/>
</concept>
<concept>
<code value="93296"/>
<display value="Achondrogenesis type 2"/>
</concept>
<concept>
<code value="93297"/>
<display value="Hypochondrogenesis"/>
</concept>
<concept>
<code value="93298"/>
<display value="Achondrogenesis type 1B"/>
</concept>
<concept>
<code value="93299"/>
<display value="Achondrogenesis type 1A"/>
</concept>
<concept>
<code value="93302"/>
<display value="Brachyolmia, Maroteaux type"/>
</concept>
<concept>
<code value="93304"/>
<display value="Autosomal dominant brachyolmia"/>
</concept>
<concept>
<code value="93307"/>
<display value="Multiple epiphyseal dysplasia type 4"/>
</concept>
<concept>
<code value="93308"/>
<display value="Multiple epiphyseal dysplasia type 1"/>
</concept>
<concept>
<code value="93311"/>
<display value="Multiple epiphyseal dysplasia type 5"/>
</concept>
<concept>
<code value="93314"/>
<display value="Spondylometaphyseal dysplasia, Kozlowski type"/>
</concept>
<concept>
<code value="93315"/>
<display
value="Spondylometaphyseal dysplasia, 'corner fracture' type"/>
</concept>
<concept>
<code value="93316"/>
<display value="Spondylometaphyseal dysplasia, Schmidt type"/>
</concept>
<concept>
<code value="93317"/>
<display value="Spondylometaphyseal dysplasia, Sedaghatian type"/>
</concept>
<concept>
<code value="93320"/>
<display value="Isolated ulnar hemimelia"/>
</concept>
<concept>
<code value="93321"/>
<display value="Isolated radial hemimelia"/>
</concept>
<concept>
<code value="93322"/>
<display value="Isolated tibial hemimelia"/>
</concept>
<concept>
<code value="93323"/>
<display value="Isolated fibular hemimelia"/>
</concept>
<concept>
<code value="93324"/>
<display value="Autosomal recessive Kenny-Caffey syndrome"/>
</concept>
<concept>
<code value="93325"/>
<display value="Autosomal dominant Kenny-Caffey syndrome"/>
</concept>
<concept>
<code value="93328"/>
<display value="Autosomal dominant omodysplasia"/>
</concept>
<concept>
<code value="93329"/>
<display value="Autosomal recessive omodysplasia"/>
</concept>
<concept>
<code value="93333"/>
<display value="Pelviscapular dysplasia"/>
</concept>
<concept>
<code value="93334"/>
<display value="Postaxial polydactyly type A"/>
</concept>
<concept>
<code value="93335"/>
<display value="Postaxial polydactyly type B"/>
</concept>
<concept>
<code value="93336"/>
<display value="Polydactyly of a triphalangeal thumb"/>
</concept>
<concept>
<code value="93337"/>
<display value="Polydactyly of an index finger"/>
</concept>
<concept>
<code value="93338"/>
<display value="Polysyndactyly"/>
</concept>
<concept>
<code value="93339"/>
<display value="Polydactyly of a biphalangeal thumb and/or hallux"/>
</concept>
<concept>
<code value="93346"/>
<display
value="Spondyloepimetaphyseal dysplasia congenita, Strudwick type"/>
</concept>
<concept>
<code value="93347"/>
<display value="Anauxetic dysplasia"/>
</concept>
<concept>
<code value="93349"/>
<display value="X-linked spondyloepimetaphyseal dysplasia"/>
</concept>
<concept>
<code value="93351"/>
<display value="Spondyloepimetaphyseal dysplasia, Irapa type"/>
</concept>
<concept>
<code value="93352"/>
<display value="Spondyloepimetaphyseal dysplasia, Shohat type"/>
</concept>
<concept>
<code value="93356"/>
<display value="Spondyloepimetaphyseal dysplasia, Missouri type"/>
</concept>
<concept>
<code value="93357"/>
<display value="SPONASTRIME dysplasia"/>
</concept>
<concept>
<code value="93358"/>
<display
value="Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"/>
</concept>
<concept>
<code value="93360"/>
<display
value="Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"/>
</concept>
<concept>
<code value="93372"/>
<display value="Familial hypocalciuric hypercalcemia type 1"/>
</concept>
<concept>
<code value="93382"/>
<display value="Brachydactyly type A6"/>
</concept>
<concept>
<code value="93383"/>
<display value="Brachydactyly type B"/>
</concept>
<concept>
<code value="93384"/>
<display value="Brachydactyly type C"/>
</concept>
<concept>
<code value="93387"/>
<display value="Brachydactyly type E"/>
</concept>
<concept>
<code value="93388"/>
<display value="Brachydactyly type A1"/>
</concept>
<concept>
<code value="93394"/>
<display value="Brachydactyly type A4"/>
</concept>
<concept>
<code value="93396"/>
<display value="Brachydactyly type A2"/>
</concept>
<concept>
<code value="93397"/>
<display value="Brachydactyly type A7"/>
</concept>
<concept>
<code value="93398"/>
<display value="Genochondromatosis type 2"/>
</concept>
<concept>
<code value="93399"/>
<display value="Juvenile sialidosis type 2"/>
</concept>
<concept>
<code value="93400"/>
<display value="Congenital sialidosis type 2"/>
</concept>
<concept>
<code value="93402"/>
<display value="Syndactyly type 1"/>
</concept>
<concept>
<code value="93403"/>
<display value="Syndactyly type 2"/>
</concept>
<concept>
<code value="93404"/>
<display value="Syndactyly type 3"/>
</concept>
<concept>
<code value="93405"/>
<display value="Syndactyly type 4"/>
</concept>
<concept>
<code value="93406"/>
<display value="Syndactyly type 5"/>
</concept>
<concept>
<code value="93409"/>
<display value="Brachydactyly-syndactyly, Zhao type"/>
</concept>
<concept>
<code value="93473"/>
<display value="Hurler syndrome"/>
</concept>
<concept>
<code value="93474"/>
<display value="Scheie syndrome"/>
</concept>
<concept>
<code value="93476"/>
<display value="Hurler-Scheie syndrome"/>
</concept>
<concept>
<code value="935"/>
<display
value="Short-limb skeletal dysplasia with severe combined immunodeficiency"/>
</concept>
<concept>
<code value="93552"/>
<display value="Pediatric systemic lupus erythematosus"/>
</concept>
<concept>
<code value="93554"/>
<display value="Mixed cryoglobulinemia type II"/>
</concept>
<concept>
<code value="93555"/>
<display value="Mixed cryoglobulinemia type III"/>
</concept>
<concept>
<code value="93556"/>
<display value="Heavy chain deposition disease"/>
</concept>
<concept>
<code value="93557"/>
<display value="Light and heavy chain deposition disease"/>
</concept>
<concept>
<code value="93558"/>
<display value="Light chain deposition disease"/>
</concept>
<concept>
<code value="93560"/>
<display value="AApoAI amyloidosis"/>
</concept>
<concept>
<code value="93561"/>
<display value="ALys amyloidosis"/>
</concept>
<concept>
<code value="93562"/>
<display value="AFib amyloidosis"/>
</concept>
<concept>
<code value="93568"/>
<display value="Juvenile polymyositis"/>
</concept>
<concept>
<code value="93571"/>
<display value="Dense deposit disease"/>
</concept>
<concept>
<code value="93581"/>
<display
value="Atypical hemolytic uremic syndrome with anti-factor H antibodies"/>
</concept>
<concept>
<code value="93583"/>
<display value="Congenital thrombotic thrombocytopenic purpura"/>
</concept>
<concept>
<code value="93585"/>
<display value="Immune-mediated thrombotic thrombocytopenic purpura"/>
</concept>
<concept>
<code value="93589"/>
<display value="Late-onset nephronophthisis"/>
</concept>
<concept>
<code value="93591"/>
<display value="Infantile nephronophthisis"/>
</concept>
<concept>
<code value="93592"/>
<display value="Juvenile nephronophthisis"/>
</concept>
<concept>
<code value="93598"/>
<display value="Primary hyperoxaluria type 1"/>
</concept>
<concept>
<code value="93599"/>
<display value="Primary hyperoxaluria type 2"/>
</concept>
<concept>
<code value="93600"/>
<display value="Primary hyperoxaluria type 3"/>
</concept>
<concept>
<code value="93601"/>
<display value="Xanthinuria type I"/>
</concept>
<concept>
<code value="93602"/>
<display value="Xanthinuria type II"/>
</concept>
<concept>
<code value="93605"/>
<display value="Bartter syndrome type 3"/>
</concept>
<concept>
<code value="93606"/>
<display value="Nephrogenic syndrome of inappropriate antidiuresis"/>
</concept>
<concept>
<code value="93607"/>
<display value="Autosomal recessive proximal renal tubular acidosis"/>
</concept>
<concept>
<code value="93608"/>
<display value="Autosomal dominant distal renal tubular acidosis"/>
</concept>
<concept>
<code value="93610"/>
<display value="Distal renal tubular acidosis with anemia"/>
</concept>
<concept>
<code value="93612"/>
<display value="Cystinuria type A"/>
</concept>
<concept>
<code value="93613"/>
<display value="Cystinuria type B"/>
</concept>
<concept>
<code value="93616"/>
<display value="Hemoglobin H disease"/>
</concept>
<concept>
<code value="93622"/>
<display value="Dent disease type 1"/>
</concept>
<concept>
<code value="93623"/>
<display value="Dent disease type 2"/>
</concept>
<concept>
<code value="93672"/>
<display value="Juvenile dermatomyositis"/>
</concept>
<concept>
<code value="93685"/>
<display value="Unicentric Castleman disease"/>
</concept>
<concept>
<code value="939"/>
<display value="3-hydroxyisobutyric aciduria"/>
</concept>
<concept>
<code value="93921"/>
<display value="Full schwannomatosis"/>
</concept>
<concept>
<code value="93924"/>
<display value="Lobar holoprosencephaly"/>
</concept>
<concept>
<code value="93925"/>
<display value="Alobar holoprosencephaly"/>
</concept>
<concept>
<code value="93926"/>
<display
value="Midline interhemispheric variant of holoprosencephaly"/>
</concept>
<concept>
<code value="93928"/>
<display value="Isolated epispadias"/>
</concept>
<concept>
<code value="93929"/>
<display value="Cloacal exstrophy"/>
</concept>
<concept>
<code value="93930"/>
<display value="Classic bladder exstrophy"/>
</concept>
<concept>
<code value="93932"/>
<display value="FG syndrome type 1"/>
</concept>
<concept>
<code value="93938"/>
<display value="Laryngotracheoesophageal cleft type 1"/>
</concept>
<concept>
<code value="93939"/>
<display value="Laryngotracheoesophageal cleft type 2"/>
</concept>
<concept>
<code value="93940"/>
<display value="Laryngotracheoesophageal cleft type 3"/>
</concept>
<concept>
<code value="93941"/>
<display value="Laryngotracheoesophageal cleft type 4"/>
</concept>
<concept>
<code value="93945"/>
<display value="X-linked intellectual disability, Porteous type"/>
</concept>
<concept>
<code value="93946"/>
<display value="Hamel cerebro-palato-cardiac syndrome"/>
</concept>
<concept>
<code value="93947"/>
<display
value="X-linked intellectual disability, Golabi-Ito-Hall type"/>
</concept>
<concept>
<code value="93950"/>
<display
value="X-linked intellectual disability, Sutherland-Haan type"/>
</concept>
<concept>
<code value="93952"/>
<display value="X-linked intellectual disability, Hedera type"/>
</concept>
<concept>
<code value="93953"/>
<display value="Familial thyroglossal duct cyst"/>
</concept>
<concept>
<code value="93958"/>
<display value="Oromandibular dystonia"/>
</concept>
<concept>
<code value="93964"/>
<display value="Blepharospasm-oromandibular dystonia syndrome"/>
</concept>
<concept>
<code value="93969"/>
<display value="Open spinal dysraphism with a myelomeningocele"/>
</concept>
<concept>
<code value="93976"/>
<display value="Anotia"/>
</concept>
<concept>
<code value="94056"/>
<display value="Isolated humero-ulnar synostosis"/>
</concept>
<concept>
<code value="94058"/>
<display value="Neovascular glaucoma"/>
</concept>
<concept>
<code value="94059"/>
<display value="Uremic pruritus"/>
</concept>
<concept>
<code value="94063"/>
<display value="12q14 microdeletion syndrome"/>
</concept>
<concept>
<code value="94064"/>
<display value="Deafness-infertility syndrome"/>
</concept>
<concept>
<code value="94065"/>
<display value="15q24 microdeletion syndrome"/>
</concept>
<concept>
<code value="94066"/>
<display
value="Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"/>
</concept>
<concept>
<code value="94068"/>
<display value="Spondyloepiphyseal dysplasia congenita"/>
</concept>
<concept>
<code value="94080"/>
<display value="Non-functioning paraganglioma"/>
</concept>
<concept>
<code value="94083"/>
<display value="Partington syndrome"/>
</concept>
<concept>
<code value="94086"/>
<display value="Blue diaper syndrome"/>
</concept>
<concept>
<code value="94087"/>
<display value="Cytophagic histiocytic panniculitis"/>
</concept>
<concept>
<code value="94088"/>
<display value="Hereditary renal hypouricemia"/>
</concept>
<concept>
<code value="94089"/>
<display value="Pseudohypoparathyroidism type 1B"/>
</concept>
<concept>
<code value="94090"/>
<display value="Pseudohypoparathyroidism type 2"/>
</concept>
<concept>
<code value="94091"/>
<display value="Mills syndrome"/>
</concept>
<concept>
<code value="94093"/>
<display value="Neuroleptic malignant syndrome"/>
</concept>
<concept>
<code value="941"/>
<display value="D-glyceric aciduria"/>
</concept>
<concept>
<code value="94122"/>
<display value="Cerebellar ataxia, Cayman type"/>
</concept>
<concept>
<code value="94124"/>
<display
value="Spinocerebellar ataxia with axonal neuropathy type 1"/>
</concept>
<concept>
<code value="94125"/>
<display value="Recessive mitochondrial ataxia syndrome"/>
</concept>
<concept>
<code value="94147"/>
<display value="Spinocerebellar ataxia type 7"/>
</concept>
<concept>
<code value="94150"/>
<display value="Anonychia congenita totalis"/>
</concept>
<concept>
<code value="943"/>
<display value="Malonic aciduria"/>
</concept>
<concept>
<code value="945"/>
<display value="Acalvaria"/>
</concept>
<concept>
<code value="949"/>
<display value="Acrocraniofacial dysostosis"/>
</concept>
<concept>
<code value="95"/>
<display value="Friedreich ataxia"/>
</concept>
<concept>
<code value="950"/>
<display value="Acrodysostosis"/>
</concept>
<concept>
<code value="95159"/>
<display value="Hepatoerythropoietic porphyria"/>
</concept>
<concept>
<code value="952"/>
<display value="Acrofacial dysostosis, Weyers type"/>
</concept>
<concept>
<code value="95232"/>
<display value="Lissencephaly due to LIS1 mutation"/>
</concept>
<concept>
<code value="95409"/>
<display value="Acute adrenal insufficiency"/>
</concept>
<concept>
<code value="95427"/>
<display value="Secondary short bowel syndrome"/>
</concept>
<concept>
<code value="95428"/>
<display value="COG8-CDG"/>
</concept>
<concept>
<code value="95429"/>
<display value="Angioma serpiginosum"/>
</concept>
<concept>
<code value="95430"/>
<display value="Congenital tracheomalacia"/>
</concept>
<concept>
<code value="95431"/>
<display value="Twin to twin transfusion syndrome"/>
</concept>
<concept>
<code value="95433"/>
<display
value="Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"/>
</concept>
<concept>
<code value="95434"/>
<display
value="Autosomal recessive cerebellar ataxia-movement disorder syndrome"/>
</concept>
<concept>
<code value="95443"/>
<display value="Mesocardia"/>
</concept>
<concept>
<code value="95448"/>
<display value="Congenital aortic valve atresia"/>
</concept>
<concept>
<code value="95455"/>
<display
value="Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"/>
</concept>
<concept>
<code value="95457"/>
<display value="Tricuspid valve agenesis"/>
</concept>
<concept>
<code value="95459"/>
<display value="Congenital tricuspid stenosis"/>
</concept>
<concept>
<code value="95461"/>
<display value="Straddling or overriding tricuspid valve"/>
</concept>
<concept>
<code value="95462"/>
<display value="Accessory tricuspid valve tissue"/>
</concept>
<concept>
<code value="95465"/>
<display value="Cleft mitral valve"/>
</concept>
<concept>
<code value="95474"/>
<display value="Double-orifice mitral valve"/>
</concept>
<concept>
<code value="95486"/>
<display value="Premature closure of the arterial duct"/>
</concept>
<concept>
<code value="95491"/>
<display value="Congenital coronary artery aneurysm"/>
</concept>
<concept>
<code value="95494"/>
<display
value="Combined pituitary hormone deficiencies, genetic forms"/>
</concept>
<concept>
<code value="95496"/>
<display value="Pituitary stalk interruption syndrome"/>
</concept>
<concept>
<code value="955"/>
<display value="Hajdu-Cheney syndrome"/>
</concept>
<concept>
<code value="95507"/>
<display value="Congenital anomaly of hepatic vein"/>
</concept>
<concept>
<code value="95512"/>
<display value="Adenohypophysitis"/>
</concept>
<concept>
<code value="95513"/>
<display value="Panhypophysitis"/>
</concept>
<concept>
<code value="95613"/>
<display value="Pituitary apoplexy"/>
</concept>
<concept>
<code value="95619"/>
<display value="Post-traumatic pituitary deficiency"/>
</concept>
<concept>
<code value="95626"/>
<display value="Acquired arginine vasopressin deficiency"/>
</concept>
<concept>
<code value="95699"/>
<display
value="Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"/>
</concept>
<concept>
<code value="957"/>
<display value="Acropectorovertebral dysplasia"/>
</concept>
<concept>
<code value="95700"/>
<display
value="Familial adrenal hypoplasia with absent pituitary luteinizing hormone"/>
</concept>
<concept>
<code value="95702"/>
<display value="X-linked adrenal hypoplasia congenita"/>
</concept>
<concept>
<code value="95706"/>
<display value="Non-syndromic posterior hypospadias"/>
</concept>
<concept>
<code value="95707"/>
<display value="Idiopathic isolated micropenis"/>
</concept>
<concept>
<code value="95712"/>
<display value="Thyroid ectopia"/>
</concept>
<concept>
<code value="95713"/>
<display value="Athyreosis"/>
</concept>
<concept>
<code value="95715"/>
<display
value="Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies"/>
</concept>
<concept>
<code value="95716"/>
<display value="Familial thyroid dyshormonogenesis"/>
</concept>
<concept>
<code value="95717"/>
<display value="Idiopathic congenital hypothyroidism"/>
</concept>
<concept>
<code value="95719"/>
<display value="Thyroid hemiagenesis"/>
</concept>
<concept>
<code value="95720"/>
<display value="Thyroid hypoplasia"/>
</concept>
<concept>
<code value="958"/>
<display value="Acro-renal-mandibular syndrome"/>
</concept>
<concept>
<code value="95854"/>
<display value="Levocardia"/>
</concept>
<concept>
<code value="959"/>
<display value="Acro-renal-ocular syndrome"/>
</concept>
<concept>
<code value="96"/>
<display value="Ataxia with vitamin E deficiency"/>
</concept>
<concept>
<code value="96055"/>
<display value="Tetrasomy 21 syndrome"/>
</concept>
<concept>
<code value="96059"/>
<display value="Mosaic trisomy 4 syndrome"/>
</concept>
<concept>
<code value="96060"/>
<display value="Mosaic trisomy 5 syndrome"/>
</concept>
<concept>
<code value="96061"/>
<display value="Mosaic trisomy 8 syndrome"/>
</concept>
<concept>
<code value="96063"/>
<display value="Mosaic trisomy 10 syndrome"/>
</concept>
<concept>
<code value="96068"/>
<display value="Mosaic trisomy 22 syndrome"/>
</concept>
<concept>
<code value="96069"/>
<display value="Distal duplication 1p36 syndrome"/>
</concept>
<concept>
<code value="96070"/>
<display value="Distal duplication 2p syndrome"/>
</concept>
<concept>
<code value="96071"/>
<display value="Distal duplication 3p syndrome"/>
</concept>
<concept>
<code value="96072"/>
<display value="4p16.3 microduplication syndrome"/>
</concept>
<concept>
<code value="96074"/>
<display value="Distal duplication 7p syndrome"/>
</concept>
<concept>
<code value="96076"/>
<display
value="Beckwith-Wiedemann syndrome due to 11p15 microduplication"/>
</concept>
<concept>
<code value="96078"/>
<display value="16p13.3 microduplication syndrome"/>
</concept>
<concept>
<code value="96092"/>
<display value="8p inverted duplication/deletion syndrome"/>
</concept>
<concept>
<code value="96094"/>
<display value="Distal duplication 2q syndrome"/>
</concept>
<concept>
<code value="96095"/>
<display value="3q26 microduplication syndrome"/>
</concept>
<concept>
<code value="96096"/>
<display value="Distal duplication 4q syndrome"/>
</concept>
<concept>
<code value="96097"/>
<display value="Distal duplication 5q syndrome"/>
</concept>
<concept>
<code value="96098"/>
<display value="Distal duplication 6q syndrome"/>
</concept>
<concept>
<code value="96100"/>
<display value="Distal duplication 8q syndrome"/>
</concept>
<concept>
<code value="96101"/>
<display value="Distal duplication 9q syndrome"/>
</concept>
<concept>
<code value="96102"/>
<display value="Distal duplication 10q syndrome"/>
</concept>
<concept>
<code value="96103"/>
<display value="Distal duplication 11q syndrome"/>
</concept>
<concept>
<code value="96105"/>
<display value="Distal duplication 13q syndrome"/>
</concept>
<concept>
<code value="96106"/>
<display value="Distal duplication 16q syndrome"/>
</concept>
<concept>
<code value="96107"/>
<display value="Distal duplication 20q syndrome"/>
</concept>
<concept>
<code value="96109"/>
<display value="Distal duplication 22q syndrome"/>
</concept>
<concept>
<code value="96112"/>
<display value="Non-distal duplication 9q syndrome"/>
</concept>
<concept>
<code value="96121"/>
<display value="7q11.23 microduplication syndrome"/>
</concept>
<concept>
<code value="96123"/>
<display value="Monosomy 22 syndrome"/>
</concept>
<concept>
<code value="96125"/>
<display value="Distal deletion 6p syndrome"/>
</concept>
<concept>
<code value="96126"/>
<display value="Distal deletion 7p syndrome"/>
</concept>
<concept>
<code value="96129"/>
<display value="Distal deletion 19p syndrome"/>
</concept>
<concept>
<code value="96145"/>
<display value="Distal deletion 4q syndrome"/>
</concept>
<concept>
<code value="96147"/>
<display value="Kleefstra syndrome due to 9q34 microdeletion"/>
</concept>
<concept>
<code value="96148"/>
<display value="Distal deletion 10q syndrome"/>
</concept>
<concept>
<code value="96149"/>
<display value="Distal deletion 12q syndrome"/>
</concept>
<concept>
<code value="96150"/>
<display value="Distal deletion 14q syndrome"/>
</concept>
<concept>
<code value="96160"/>
<display value="Non-distal deletion 12q syndrome"/>
</concept>
<concept>
<code value="96167"/>
<display value="Recombinant 8 syndrome"/>
</concept>
<concept>
<code value="96168"/>
<display value="Monosomy 13q34 syndrome"/>
</concept>
<concept>
<code value="96169"/>
<display value="Koolen-De Vries syndrome"/>
</concept>
<concept>
<code value="96170"/>
<display value="Emanuel syndrome"/>
</concept>
<concept>
<code value="96171"/>
<display value="Ring chromosome 2 syndrome"/>
</concept>
<concept>
<code value="96172"/>
<display value="Ring chromosome 3 syndrome"/>
</concept>
<concept>
<code value="96173"/>
<display value="Ring chromosome 9 syndrome"/>
</concept>
<concept>
<code value="96175"/>
<display value="Ring chromosome 11 syndrome"/>
</concept>
<concept>
<code value="96176"/>
<display value="Ring chromosome 13 syndrome"/>
</concept>
<concept>
<code value="96177"/>
<display value="Ring chromosome 15 syndrome"/>
</concept>
<concept>
<code value="96178"/>
<display value="Ring chromosome 16 syndrome"/>
</concept>
<concept>
<code value="96179"/>
<display
value="Maternal uniparental disomy of chromosome 2 syndrome"/>
</concept>
<concept>
<code value="96180"/>
<display
value="Maternal uniparental disomy of chromosome 4 syndrome"/>
</concept>
<concept>
<code value="96181"/>
<display
value="Maternal uniparental disomy of chromosome 6 syndrome"/>
</concept>
<concept>
<code value="96182"/>
<display
value="Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"/>
</concept>
<concept>
<code value="96183"/>
<display
value="Maternal uniparental disomy of chromosome 9 syndrome"/>
</concept>
<concept>
<code value="96184"/>
<display
value="Temple syndrome due to maternal uniparental disomy of chromosome 14"/>
</concept>
<concept>
<code value="96185"/>
<display
value="Maternal uniparental disomy of chromosome 16 syndrome"/>
</concept>
<concept>
<code value="96186"/>
<display
value="Maternal uniparental disomy of chromosome 20 syndrome"/>
</concept>
<concept>
<code value="96187"/>
<display
value="Maternal uniparental disomy of chromosome 21 syndrome"/>
</concept>
<concept>
<code value="96188"/>
<display
value="Maternal uniparental disomy of chromosome 22 syndrome"/>
</concept>
<concept>
<code value="96190"/>
<display
value="Paternal uniparental disomy of chromosome 5 syndrome"/>
</concept>
<concept>
<code value="96191"/>
<display
value="Paternal uniparental disomy of chromosome 6 syndrome"/>
</concept>
<concept>
<code value="96192"/>
<display
value="Paternal uniparental disomy of chromosome 7 syndrome"/>
</concept>
<concept>
<code value="96193"/>
<display
value="Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"/>
</concept>
<concept>
<code value="96194"/>
<display
value="Paternal uniparental disomy of chromosome 20 syndrome"/>
</concept>
<concept>
<code value="96195"/>
<display
value="Paternal uniparental disomy of chromosome 21 syndrome"/>
</concept>
<concept>
<code value="96201"/>
<display value="X small rings syndrome"/>
</concept>
<concept>
<code value="96253"/>
<display value="Cushing disease"/>
</concept>
<concept>
<code value="96263"/>
<display value="48,XXXY syndrome"/>
</concept>
<concept>
<code value="96264"/>
<display value="49,XXXXY syndrome"/>
</concept>
<concept>
<code value="96265"/>
<display
value="Leydig cell hypoplasia due to complete LH resistance"/>
</concept>
<concept>
<code value="96266"/>
<display value="Leydig cell hypoplasia due to partial LH resistance"/>
</concept>
<concept>
<code value="96269"/>
<display value="Isolated partial vaginal agenesis"/>
</concept>
<concept>
<code value="963"/>
<display value="Acromegaly"/>
</concept>
<concept>
<code value="96334"/>
<display
value="Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"/>
</concept>
<concept>
<code value="968"/>
<display value="Acromesomelic dysplasia, Hunter-Thompson type"/>
</concept>
<concept>
<code value="969"/>
<display value="Acromicric dysplasia"/>
</concept>
<concept>
<code value="97"/>
<display value="Familial paroxysmal ataxia"/>
</concept>
<concept>
<code value="970"/>
<display value="Hereditary sensory and autonomic neuropathy type 2"/>
</concept>
<concept>
<code value="971"/>
<display value="Acrorenal syndrome"/>
</concept>
<concept>
<code value="972"/>
<display value="Hereditary continuous muscle fiber activity"/>
</concept>
<concept>
<code value="97214"/>
<display value="Eisenmenger syndrome"/>
</concept>
<concept>
<code value="97229"/>
<display value="Riboflavin transporter deficiency"/>
</concept>
<concept>
<code value="97230"/>
<display value="Solar urticaria"/>
</concept>
<concept>
<code value="97232"/>
<display value="Fingerprint body myopathy"/>
</concept>
<concept>
<code value="97234"/>
<display
value="Glycogen storage disease due to phosphoglycerate mutase deficiency"/>
</concept>
<concept>
<code value="97238"/>
<display value="Rippling muscle disease"/>
</concept>
<concept>
<code value="97239"/>
<display value="Reducing body myopathy"/>
</concept>
<concept>
<code value="97240"/>
<display value="Zebra body myopathy"/>
</concept>
<concept>
<code value="97244"/>
<display value="Rigid spine syndrome"/>
</concept>
<concept>
<code value="97249"/>
<display value="Pontocerebellar hypoplasia type 3"/>
</concept>
<concept>
<code value="97252"/>
<display value="Mega-cisterna magna"/>
</concept>
<concept>
<code value="97261"/>
<display value="GRFoma"/>
</concept>
<concept>
<code value="97278"/>
<display value="PPoma"/>
</concept>
<concept>
<code value="97279"/>
<display value="Insulinoma"/>
</concept>
<concept>
<code value="97280"/>
<display value="Glucagonoma"/>
</concept>
<concept>
<code value="97282"/>
<display value="VIPoma"/>
</concept>
<concept>
<code value="97283"/>
<display value="Somatostatinoma"/>
</concept>
<concept>
<code value="97285"/>
<display value="Thyroid lymphoma"/>
</concept>
<concept>
<code value="97286"/>
<display value="Carney-Stratakis syndrome"/>
</concept>
<concept>
<code value="97287"/>
<display value="Bronchial neuroendocrine tumor"/>
</concept>
<concept>
<code value="97289"/>
<display value="Thymic neuroendocrine tumor"/>
</concept>
<concept>
<code value="97290"/>
<display
value="Familial papillary thyroid carcinoma with renal papillary neoplasia"/>
</concept>
<concept>
<code value="97292"/>
<display value="Cardiogenic shock"/>
</concept>
<concept>
<code value="97297"/>
<display value="Bohring-Opitz syndrome"/>
</concept>
<concept>
<code value="973"/>
<display
value="Isolated absence/hypoplasia of fingers excluding thumb, unilateral"/>
</concept>
<concept>
<code value="97330"/>
<display value="Thoracic outlet syndrome"/>
</concept>
<concept>
<code value="97332"/>
<display value="Kienbock disease"/>
</concept>
<concept>
<code value="97335"/>
<display value="Osgood-Schlatter disease"/>
</concept>
<concept>
<code value="97336"/>
<display value="Panner disease"/>
</concept>
<concept>
<code value="97337"/>
<display value="Sinding-Larsen-Johansson disease"/>
</concept>
<concept>
<code value="97338"/>
<display value="Melanoma of soft tissue"/>
</concept>
<concept>
<code value="97339"/>
<display value="Dural sinus malformation"/>
</concept>
<concept>
<code value="97340"/>
<display value="Hunter-McAlpine syndrome"/>
</concept>
<concept>
<code value="97341"/>
<display value="Persistent placoid maculopathy"/>
</concept>
<concept>
<code value="97345"/>
<display value="ABri amyloidosis"/>
</concept>
<concept>
<code value="97346"/>
<display value="ADan amyloidosis"/>
</concept>
<concept>
<code value="97349"/>
<display value="Postencephalitic parkinsonism"/>
</concept>
<concept>
<code value="97352"/>
<display value="Pellagra"/>
</concept>
<concept>
<code value="97353"/>
<display value="Dementia pugilistica"/>
</concept>
<concept>
<code value="97355"/>
<display value="Caribbean parkinsonism"/>
</concept>
<concept>
<code value="97360"/>
<display value="Robinow syndrome"/>
</concept>
<concept>
<code value="97361"/>
<display value="Renal hypoplasia, unilateral"/>
</concept>
<concept>
<code value="97362"/>
<display value="Renal hypoplasia, bilateral"/>
</concept>
<concept>
<code value="97363"/>
<display value="Unilateral multicystic dysplastic kidney"/>
</concept>
<concept>
<code value="97364"/>
<display value="Bilateral multicystic dysplastic kidney"/>
</concept>
<concept>
<code value="97366"/>
<display value="Multiloculated renal cyst"/>
</concept>
<concept>
<code value="97367"/>
<display
value="Renal tubular dysgenesis due to twin-twin transfusion"/>
</concept>
<concept>
<code value="97368"/>
<display value="Drug-related renal tubular dysgenesis"/>
</concept>
<concept>
<code value="97369"/>
<display value="Renal tubular dysgenesis of genetic origin"/>
</concept>
<concept>
<code value="974"/>
<display value="Adams-Oliver syndrome"/>
</concept>
<concept>
<code value="97548"/>
<display value="Right sided atrial isomerism"/>
</concept>
<concept>
<code value="97560"/>
<display value="Primary membranous glomerulonephritis"/>
</concept>
<concept>
<code value="97563"/>
<display value="Pauci-immune glomerulonephritis with ANCA"/>
</concept>
<concept>
<code value="97564"/>
<display value="Pauci-immune glomerulonephritis without ANCA"/>
</concept>
<concept>
<code value="97566"/>
<display value="Non-amyloid fibrillary glomerulopathy"/>
</concept>
<concept>
<code value="97567"/>
<display value="Immunotactoid glomerulopathy"/>
</concept>
<concept>
<code value="97598"/>
<display value="Congenital renal artery stenosis"/>
</concept>
<concept>
<code value="976"/>
<display value="Adenine phosphoribosyltransferase deficiency"/>
</concept>
<concept>
<code value="97678"/>
<display
value="Maternal uniparental disomy of chromosome 13 syndrome"/>
</concept>
<concept>
<code value="97685"/>
<display value="17q11 microdeletion syndrome"/>
</concept>
<concept>
<code value="977"/>
<display value="Adrenomyodystrophy"/>
</concept>
<concept>
<code value="978"/>
<display value="ADULT syndrome"/>
</concept>
<concept>
<code value="98"/>
<display
value="Autosomal recessive spastic ataxia of Charlevoix-Saguenay"/>
</concept>
<concept>
<code value="980"/>
<display value="Absence of the pulmonary artery"/>
</concept>
<concept>
<code value="981"/>
<display value="Internal carotid absence"/>
</concept>
<concept>
<code value="98267"/>
<display value="Genetic non-syndromic obesity"/>
</concept>
<concept>
<code value="983"/>
<display value="Testicular regression syndrome"/>
</concept>
<concept>
<code value="984"/>
<display value="Pulmonary agenesis"/>
</concept>
<concept>
<code value="98434"/>
<display
value="Hereditary combined deficiency of vitamin K-dependent clotting factors"/>
</concept>
<concept>
<code value="98606"/>
<display value="Syndromic orbital border hypoplasia"/>
</concept>
<concept>
<code value="98619"/>
<display value="Rare isolated myopia"/>
</concept>
<concept>
<code value="98673"/>
<display value="Autosomal dominant optic atrophy, classic form"/>
</concept>
<concept>
<code value="98676"/>
<display value="Autosomal recessive isolated optic atrophy"/>
</concept>
<concept>
<code value="98686"/>
<display value="Congenital trochlear nerve palsy"/>
</concept>
<concept>
<code value="98754"/>
<display
value="Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"/>
</concept>
<concept>
<code value="98755"/>
<display value="Spinocerebellar ataxia type 1"/>
</concept>
<concept>
<code value="98756"/>
<display value="Spinocerebellar ataxia type 2"/>
</concept>
<concept>
<code value="98757"/>
<display value="Spinocerebellar ataxia type 3"/>
</concept>
<concept>
<code value="98758"/>
<display value="Spinocerebellar ataxia type 6"/>
</concept>
<concept>
<code value="98759"/>
<display value="Spinocerebellar ataxia type 17"/>
</concept>
<concept>
<code value="98760"/>
<display value="Spinocerebellar ataxia type 8"/>
</concept>
<concept>
<code value="98761"/>
<display value="Spinocerebellar ataxia type 10"/>
</concept>
<concept>
<code value="98762"/>
<display value="Spinocerebellar ataxia type 12"/>
</concept>
<concept>
<code value="98763"/>
<display value="Spinocerebellar ataxia type 14"/>
</concept>
<concept>
<code value="98764"/>
<display value="Spinocerebellar ataxia type 27A"/>
</concept>
<concept>
<code value="98765"/>
<display value="Spinocerebellar ataxia type 4"/>
</concept>
<concept>
<code value="98766"/>
<display value="Spinocerebellar ataxia type 5"/>
</concept>
<concept>
<code value="98767"/>
<display value="Spinocerebellar ataxia type 11"/>
</concept>
<concept>
<code value="98768"/>
<display value="Spinocerebellar ataxia type 13"/>
</concept>
<concept>
<code value="98769"/>
<display value="Spinocerebellar ataxia type 15/16"/>
</concept>
<concept>
<code value="98771"/>
<display value="Spinocerebellar ataxia type 18"/>
</concept>
<concept>
<code value="98772"/>
<display value="Spinocerebellar ataxia type 19/22"/>
</concept>
<concept>
<code value="98773"/>
<display value="Spinocerebellar ataxia type 21"/>
</concept>
<concept>
<code value="98784"/>
<display value="Sleep-related hypermotor epilepsy"/>
</concept>
<concept>
<code value="98791"/>
<display
value="Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"/>
</concept>
<concept>
<code value="98793"/>
<display
value="Prader-Willi syndrome due to paternal 15q11q13 deletion"/>
</concept>
<concept>
<code value="98794"/>
<display value="Angelman syndrome due to maternal 15q11q13 deletion"/>
</concept>
<concept>
<code value="98795"/>
<display
value="Angelman syndrome due to paternal uniparental disomy of chromosome 15"/>
</concept>
<concept>
<code value="98797"/>
<display value="Isochromosomy Yp syndrome"/>
</concept>
<concept>
<code value="98798"/>
<display value="Isochromosomy Yq syndrome"/>
</concept>
<concept>
<code value="988"/>
<display
value="Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"/>
</concept>
<concept>
<code value="98805"/>
<display value="Primary dystonia, DYT4 type"/>
</concept>
<concept>
<code value="98806"/>
<display value="Primary dystonia, DYT6 type"/>
</concept>
<concept>
<code value="98807"/>
<display value="Primary dystonia, DYT13 type"/>
</concept>
<concept>
<code value="98808"/>
<display value="Autosomal dominant dopa-responsive dystonia"/>
</concept>
<concept>
<code value="98809"/>
<display value="Paroxysmal kinesigenic dyskinesia"/>
</concept>
<concept>
<code value="98810"/>
<display value="Paroxysmal non-kinesigenic dyskinesia"/>
</concept>
<concept>
<code value="98811"/>
<display value="Paroxysmal exertion-induced dyskinesia"/>
</concept>
<concept>
<code value="98813"/>
<display
value="Hypohidrotic ectodermal dysplasia with immunodeficiency"/>
</concept>
<concept>
<code value="98815"/>
<display value="Self-limited epilepsy with autonomic seizures"/>
</concept>
<concept>
<code value="98816"/>
<display value="Childhood occipital visual epilepsy"/>
</concept>
<concept>
<code value="98818"/>
<display value="Landau-Kleffner syndrome"/>
</concept>
<concept>
<code value="98819"/>
<display value="Familial temporal lobe epilepsy"/>
</concept>
<concept>
<code value="98820"/>
<display value="Familial focal epilepsy with variable foci"/>
</concept>
<concept>
<code value="98823"/>
<display value="Chronic myelomonocytic leukemia"/>
</concept>
<concept>
<code value="98824"/>
<display value="Atypical chronic myeloid leukemia"/>
</concept>
<concept>
<code value="98825"/>
<display
value="Unclassified myelodysplastic/myeloproliferative disease"/>
</concept>
<concept>
<code value="98826"/>
<display value="Myelodysplastic neoplasm with low blasts"/>
</concept>
<concept>
<code value="98827"/>
<display value="Unclassified myelodysplastic syndrome"/>
</concept>
<concept>
<code value="98829"/>
<display
value="Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"/>
</concept>
<concept>
<code value="98831"/>
<display value="Acute myeloid leukemia with 11q23 abnormalities"/>
</concept>
<concept>
<code value="98832"/>
<display value="Acute myeloid leukemia with minimal differentiation"/>
</concept>
<concept>
<code value="98833"/>
<display value="Acute myeloblastic leukemia without maturation"/>
</concept>
<concept>
<code value="98834"/>
<display value="Acute myeloblastic leukemia with maturation"/>
</concept>
<concept>
<code value="98835"/>
<display value="Acute undifferentiated leukemia"/>
</concept>
<concept>
<code value="98838"/>
<display value="Primary mediastinal large B-cell lymphoma"/>
</concept>
<concept>
<code value="98839"/>
<display value="Intravascular large B-cell lymphoma"/>
</concept>
<concept>
<code value="98841"/>
<display value="Anaplastic large cell lymphoma"/>
</concept>
<concept>
<code value="98842"/>
<display value="Lymphomatoid papulosis"/>
</concept>
<concept>
<code value="98843"/>
<display value="Classic Hodgkin lymphoma, nodular sclerosis type"/>
</concept>
<concept>
<code value="98844"/>
<display value="Classic Hodgkin lymphoma, mixed cellularity type"/>
</concept>
<concept>
<code value="98845"/>
<display value="Classic Hodgkin lymphoma, lymphocyte-rich type"/>
</concept>
<concept>
<code value="98846"/>
<display value="Classic Hodgkin lymphoma, lymphocyte-depleted type"/>
</concept>
<concept>
<code value="98848"/>
<display value="Indolent systemic mastocytosis"/>
</concept>
<concept>
<code value="98849"/>
<display
value="Systemic mastocytosis with associated hematologic neoplasm"/>
</concept>
<concept>
<code value="98850"/>
<display value="Aggressive systemic mastocytosis"/>
</concept>
<concept>
<code value="98851"/>
<display value="Mast cell leukemia"/>
</concept>
<concept>
<code value="98852"/>
<display value="Desquamative interstitial pneumonia"/>
</concept>
<concept>
<code value="98853"/>
<display
value="Autosomal dominant Emery-Dreifuss muscular dystrophy"/>
</concept>
<concept>
<code value="98855"/>
<display
value="Autosomal recessive Emery-Dreifuss muscular dystrophy"/>
</concept>
<concept>
<code value="98856"/>
<display value="Charcot-Marie-Tooth disease type 2B1"/>
</concept>
<concept>
<code value="98863"/>
<display value="X-linked Emery-Dreifuss muscular dystrophy"/>
</concept>
<concept>
<code value="98868"/>
<display value="Southeast Asian ovalocytosis"/>
</concept>
<concept>
<code value="98869"/>
<display value="Congenital dyserythropoietic anemia type I"/>
</concept>
<concept>
<code value="98870"/>
<display value="Congenital dyserythropoietic anemia type III"/>
</concept>
<concept>
<code value="98871"/>
<display value="Transient erythroblastopenia of childhood"/>
</concept>
<concept>
<code value="98872"/>
<display value="Primary acquired pure red cell aplasia"/>
</concept>
<concept>
<code value="98873"/>
<display value="Congenital dyserythropoietic anemia type II"/>
</concept>
<concept>
<code value="98878"/>
<display value="Hemophilia A"/>
</concept>
<concept>
<code value="98879"/>
<display value="Hemophilia B"/>
</concept>
<concept>
<code value="98880"/>
<display value="Familial afibrinogenemia"/>
</concept>
<concept>
<code value="98881"/>
<display value="Familial dysfibrinogenemia"/>
</concept>
<concept>
<code value="98885"/>
<display
value="Bleeding diathesis due to glycoprotein VI deficiency"/>
</concept>
<concept>
<code value="98886"/>
<display
value="Bleeding diathesis due to integrin alpha2-beta1 deficiency"/>
</concept>
<concept>
<code value="98889"/>
<display value="Bilateral perisylvian polymicrogyria"/>
</concept>
<concept>
<code value="98890"/>
<display value="Early-onset X-linked optic atrophy"/>
</concept>
<concept>
<code value="98892"/>
<display value="Periventricular nodular heterotopia"/>
</concept>
<concept>
<code value="98893"/>
<display value="Congenital muscular dystrophy type 1B"/>
</concept>
<concept>
<code value="98895"/>
<display value="Becker muscular dystrophy"/>
</concept>
<concept>
<code value="98896"/>
<display value="Duchenne muscular dystrophy"/>
</concept>
<concept>
<code value="98897"/>
<display value="Oculopharyngodistal myopathy"/>
</concept>
<concept>
<code value="989"/>
<display value="Hypoglossia-hypodactyly syndrome"/>
</concept>
<concept>
<code value="98902"/>
<display value="Amish nemaline myopathy"/>
</concept>
<concept>
<code value="98904"/>
<display value="Congenital myopathy with excess of thin filaments"/>
</concept>
<concept>
<code value="98905"/>
<display
value="Congenital multicore myopathy with external ophthalmoplegia"/>
</concept>
<concept>
<code value="98907"/>
<display value="Neutral lipid storage disease with ichthyosis"/>
</concept>
<concept>
<code value="98908"/>
<display value="Neutral lipid storage disease with myopathy"/>
</concept>
<concept>
<code value="98909"/>
<display value="Desminopathy"/>
</concept>
<concept>
<code value="98911"/>
<display value="Distal myotilinopathy"/>
</concept>
<concept>
<code value="98912"/>
<display value="Late-onset distal myopathy, Markesbery-Griggs type"/>
</concept>
<concept>
<code value="98913"/>
<display value="Postsynaptic congenital myasthenic syndromes"/>
</concept>
<concept>
<code value="98914"/>
<display value="Presynaptic congenital myasthenic syndromes"/>
</concept>
<concept>
<code value="98915"/>
<display value="Synaptic congenital myasthenic syndromes"/>
</concept>
<concept>
<code value="98916"/>
<display
value="Acute inflammatory demyelinating polyradiculoneuropathy"/>
</concept>
<concept>
<code value="98917"/>
<display value="Acute motor and sensory axonal neuropathy"/>
</concept>
<concept>
<code value="98918"/>
<display value="Acute motor axonal neuropathy"/>
</concept>
<concept>
<code value="98919"/>
<display value="Miller Fisher syndrome"/>
</concept>
<concept>
<code value="98920"/>
<display
value="Spinal muscular atrophy with respiratory distress type 1"/>
</concept>
<concept>
<code value="98922"/>
<display value="Blake pouch cyst"/>
</concept>
<concept>
<code value="98933"/>
<display value="Multiple system atrophy, parkinsonian type"/>
</concept>
<concept>
<code value="98934"/>
<display value="Huntington disease-like 2"/>
</concept>
<concept>
<code value="98938"/>
<display value="Colobomatous microphthalmia"/>
</concept>
<concept>
<code value="98942"/>
<display value="Coloboma of choroid and retina"/>
</concept>
<concept>
<code value="98943"/>
<display value="Coloboma of eye lens"/>
</concept>
<concept>
<code value="98944"/>
<display value="Coloboma of iris"/>
</concept>
<concept>
<code value="98945"/>
<display value="Coloboma of macula"/>
</concept>
<concept>
<code value="98946"/>
<display value="Coloboma of eyelid"/>
</concept>
<concept>
<code value="98947"/>
<display value="Coloboma of optic disc"/>
</concept>
<concept>
<code value="98948"/>
<display value="Congenital symblepharon"/>
</concept>
<concept>
<code value="98949"/>
<display value="Complete cryptophthalmia"/>
</concept>
<concept>
<code value="98950"/>
<display value="Partial cryptophthalmia"/>
</concept>
<concept>
<code value="98951"/>
<display value="Inverse Marcus-Gunn phenomenon"/>
</concept>
<concept>
<code value="98954"/>
<display value="Meesmann corneal dystrophy"/>
</concept>
<concept>
<code value="98955"/>
<display value="Lisch epithelial corneal dystrophy"/>
</concept>
<concept>
<code value="98956"/>
<display value="Epithelial basement membrane dystrophy"/>
</concept>
<concept>
<code value="98957"/>
<display value="Gelatinous drop-like corneal dystrophy"/>
</concept>
<concept>
<code value="98958"/>
<display value="Climatic droplet keratopathy"/>
</concept>
<concept>
<code value="98959"/>
<display value="Subepithelial mucinous corneal dystrophy"/>
</concept>
<concept>
<code value="98960"/>
<display value="Thiel-Behnke corneal dystrophy"/>
</concept>
<concept>
<code value="98961"/>
<display value="Reis-Bücklers corneal dystrophy"/>
</concept>
<concept>
<code value="98962"/>
<display value="Granular corneal dystrophy type I"/>
</concept>
<concept>
<code value="98963"/>
<display value="Granular corneal dystrophy type II"/>
</concept>
<concept>
<code value="98964"/>
<display value="Lattice corneal dystrophy type I"/>
</concept>
<concept>
<code value="98967"/>
<display value="Schnyder corneal dystrophy"/>
</concept>
<concept>
<code value="98969"/>
<display value="Macular corneal dystrophy"/>
</concept>
<concept>
<code value="98970"/>
<display value="Fleck corneal dystrophy"/>
</concept>
<concept>
<code value="98971"/>
<display value="Posterior amorphous corneal dystrophy"/>
</concept>
<concept>
<code value="98972"/>
<display value="Central cloudy dystrophy of François"/>
</concept>
<concept>
<code value="98973"/>
<display value="Posterior polymorphous corneal dystrophy"/>
</concept>
<concept>
<code value="98974"/>
<display value="Fuchs endothelial corneal dystrophy"/>
</concept>
<concept>
<code value="98976"/>
<display value="Congenital glaucoma"/>
</concept>
<concept>
<code value="98977"/>
<display value="Juvenile glaucoma"/>
</concept>
<concept>
<code value="98978"/>
<display value="Axenfeld anomaly"/>
</concept>
<concept>
<code value="98979"/>
<display value="Chandler syndrome"/>
</concept>
<concept>
<code value="98980"/>
<display value="Cogan-Reese syndrome"/>
</concept>
<concept>
<code value="98981"/>
<display value="Essential iris atrophy"/>
</concept>
<concept>
<code value="98984"/>
<display value="Pulverulent cataract"/>
</concept>
<concept>
<code value="98985"/>
<display value="Early-onset sutural cataract"/>
</concept>
<concept>
<code value="98988"/>
<display value="Early-onset anterior polar cataract"/>
</concept>
<concept>
<code value="98989"/>
<display value="Cerulean cataract"/>
</concept>
<concept>
<code value="98990"/>
<display value="Coralliform cataract"/>
</concept>
<concept>
<code value="98991"/>
<display value="Early-onset nuclear cataract"/>
</concept>
<concept>
<code value="98992"/>
<display value="Early-onset partial cataract"/>
</concept>
<concept>
<code value="98993"/>
<display value="Early-onset posterior polar cataract"/>
</concept>
<concept>
<code value="98994"/>
<display value="Total early-onset cataract"/>
</concept>
<concept>
<code value="98995"/>
<display value="Early-onset zonular cataract"/>
</concept>
<concept>
<code value="990"/>
<display value="Agnathia-holoprosencephaly-situs inversus syndrome"/>
</concept>
<concept>
<code value="99000"/>
<display value="Adult-onset foveomacular vitelliform dystrophy"/>
</concept>
<concept>
<code value="99001"/>
<display value="Butterfly-shaped pigment dystrophy"/>
</concept>
<concept>
<code value="99002"/>
<display
value="Reticular dystrophy of the retinal pigment epithelium"/>
</concept>
<concept>
<code value="99003"/>
<display
value="Multifocal pattern dystrophy simulating fundus flavimaculatus"/>
</concept>
<concept>
<code value="99004"/>
<display value="Fundus pulverulentus"/>
</concept>
<concept>
<code value="99013"/>
<display value="Spastic paraplegia type 7"/>
</concept>
<concept>
<code value="99014"/>
<display value="X-linked Charcot-Marie-Tooth disease type 5"/>
</concept>
<concept>
<code value="99015"/>
<display value="Spastic paraplegia type 2"/>
</concept>
<concept>
<code value="99027"/>
<display value="Adult-onset autosomal dominant leukodystrophy"/>
</concept>
<concept>
<code value="99042"/>
<display
value="Congenitally uncorrected transposition of the great arteries with coarctation"/>
</concept>
<concept>
<code value="99043"/>
<display
value="Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis"/>
</concept>
<concept>
<code value="99045"/>
<display
value="Double outlet right ventricle with subpulmonary ventricular septal defect"/>
</concept>
<concept>
<code value="99046"/>
<display
value="Double outlet right ventricle with non-committed subpulmonary ventricular septal defect"/>
</concept>
<concept>
<code value="99048"/>
<display
value="Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome"/>
</concept>
<concept>
<code value="99049"/>
<display
value="Pulmonary artery coming from patent ductus arteriosus"/>
</concept>
<concept>
<code value="99050"/>
<display
value="Abnormal origin of right or left pulmonary artery from the aorta"/>
</concept>
<concept>
<code value="99051"/>
<display value="Discrete fixed membranous subaortic stenosis"/>
</concept>
<concept>
<code value="99052"/>
<display value="Discrete fibromuscular subaortic stenosis"/>
</concept>
<concept>
<code value="99053"/>
<display value="Tunnel subaortic stenosis"/>
</concept>
<concept>
<code value="99054"/>
<display value="Valvular pulmonary stenosis"/>
</concept>
<concept>
<code value="99055"/>
<display value="Congenital anomaly of the tricuspid valve chordae"/>
</concept>
<concept>
<code value="99056"/>
<display value="Parachute tricuspid valve"/>
</concept>
<concept>
<code value="99057"/>
<display value="Congenital mitral stenosis"/>
</concept>
<concept>
<code value="99058"/>
<display value="Hypoplasia of the mitral valve annulus"/>
</concept>
<concept>
<code value="99059"/>
<display value="Congenital supravalvular mitral ring"/>
</concept>
<concept>
<code value="99060"/>
<display value="Congenital unguarded mitral orifice"/>
</concept>
<concept>
<code value="99061"/>
<display value="Accessory mitral valve tissue"/>
</concept>
<concept>
<code value="99062"/>
<display value="Mitral valve agenesis"/>
</concept>
<concept>
<code value="99063"/>
<display value="Shone complex"/>
</concept>
<concept>
<code value="99064"/>
<display value="Straddling and/or overriding mitral valve"/>
</concept>
<concept>
<code value="99067"/>
<display
value="Complete atrioventricular septal defect with ventricular hypoplasia"/>
</concept>
<concept>
<code value="99068"/>
<display
value="Complete atrioventricular septal defect-tetralogy of Fallot"/>
</concept>
<concept>
<code value="99070"/>
<display value="Aorto-right ventricular tunnel"/>
</concept>
<concept>
<code value="99071"/>
<display value="Aorto-left ventricular tunnel"/>
</concept>
<concept>
<code value="99072"/>
<display value="Congenital patent ductus arteriosus aneurysm"/>
</concept>
<concept>
<code value="99075"/>
<display value="Encircling double aortic arch"/>
</concept>
<concept>
<code value="99076"/>
<display value="Persistent fifth aortic arch"/>
</concept>
<concept>
<code value="99077"/>
<display value="Kommerell diverticulum"/>
</concept>
<concept>
<code value="99078"/>
<display value="Neuhauser anomaly"/>
</concept>
<concept>
<code value="99079"/>
<display value="Cervical aortic arch"/>
</concept>
<concept>
<code value="99081"/>
<display value="Right aortic arch"/>
</concept>
<concept>
<code value="99082"/>
<display value="Dysphagia lusoria"/>
</concept>
<concept>
<code value="99083"/>
<display value="Pulmonary artery hypoplasia"/>
</concept>
<concept>
<code value="99084"/>
<display value="Peripheral pulmonary stenosis"/>
</concept>
<concept>
<code value="99087"/>
<display value="Coronary ostial stenosis or atresia"/>
</concept>
<concept>
<code value="99089"/>
<display value="Abnormal number of coronary ostia"/>
</concept>
<concept>
<code value="99090"/>
<display value="Malposition of a coronary ostium"/>
</concept>
<concept>
<code value="99092"/>
<display value="Interventricular septum aneurysm"/>
</concept>
<concept>
<code value="99094"/>
<display value="Laubry-Pezzi syndrome"/>
</concept>
<concept>
<code value="99095"/>
<display value="Congenital Gerbode defect"/>
</concept>
<concept>
<code value="99098"/>
<display value="Cor triatriatum dexter"/>
</concept>
<concept>
<code value="99099"/>
<display value="Cor triatriatum sinister"/>
</concept>
<concept>
<code value="991"/>
<display value="PAGOD syndrome"/>
</concept>
<concept>
<code value="99100"/>
<display value="Juxtaposition of the atrial appendages"/>
</concept>
<concept>
<code value="99101"/>
<display value="Ectasia of the right atrial appendage"/>
</concept>
<concept>
<code value="99102"/>
<display value="Ectasia of the left atrial appendage"/>
</concept>
<concept>
<code value="99103"/>
<display value="Atrial septal defect, ostium secundum type"/>
</concept>
<concept>
<code value="99104"/>
<display value="Atrial septal defect, coronary sinus type"/>
</concept>
<concept>
<code value="99105"/>
<display value="Atrial septal defect, sinus venosus type"/>
</concept>
<concept>
<code value="99106"/>
<display value="Atrial septal defect, ostium primum type"/>
</concept>
<concept>
<code value="99107"/>
<display value="Atrial septal aneurysm"/>
</concept>
<concept>
<code value="99109"/>
<display
value="Persistent left superior vena cava connecting through coronary sinus to left-sided atrium"/>
</concept>
<concept>
<code value="99110"/>
<display
value="Right superior vena cava connecting to left-sided atrium"/>
</concept>
<concept>
<code value="99111"/>
<display
value="Persistent left superior vena cava connecting to the roof of left-sided atrium"/>
</concept>
<concept>
<code value="99112"/>
<display value="Absence of innominate vein"/>
</concept>
<concept>
<code value="99113"/>
<display value="Subaortic course of innominate vein"/>
</concept>
<concept>
<code value="99114"/>
<display value="Agenesis of the superior vena cava"/>
</concept>
<concept>
<code value="99117"/>
<display value="Coronary sinus stenosis"/>
</concept>
<concept>
<code value="99118"/>
<display value="Coronary sinus atresia"/>
</concept>
<concept>
<code value="99119"/>
<display
value="Right inferior vena cava connecting to left-sided atrium"/>
</concept>
<concept>
<code value="99120"/>
<display value="Persistent eustachian valve"/>
</concept>
<concept>
<code value="99121"/>
<display value="Azygos continuation of the inferior vena cava"/>
</concept>
<concept>
<code value="99122"/>
<display value="Congenital stenosis of the inferior vena cava"/>
</concept>
<concept>
<code value="99123"/>
<display
value="Inferior vena cava interruption without azygos continuation"/>
</concept>
<concept>
<code value="99124"/>
<display value="Congenital partial pulmonary venous return anomaly"/>
</concept>
<concept>
<code value="99125"/>
<display value="Congenital total pulmonary venous return anomaly"/>
</concept>
<concept>
<code value="99126"/>
<display value="Congenital pulmonary vein atresia"/>
</concept>
<concept>
<code value="99129"/>
<display value="Congenital complete agenesis of pericardium"/>
</concept>
<concept>
<code value="99130"/>
<display value="Congenital partial agenesis of pericardium"/>
</concept>
<concept>
<code value="99131"/>
<display value="Pleuro-pericardial cyst"/>
</concept>
<concept>
<code value="99135"/>
<display value="6-phosphogluconate dehydrogenase deficiency"/>
</concept>
<concept>
<code value="99138"/>
<display
value="Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"/>
</concept>
<concept>
<code value="99139"/>
<display value="Unstable hemoglobin disease"/>
</concept>
<concept>
<code value="99141"/>
<display value="Lymphedema-posterior choanal atresia syndrome"/>
</concept>
<concept>
<code value="99147"/>
<display value="Acquired von Willebrand syndrome"/>
</concept>
<concept>
<code value="99169"/>
<display value="Epiblepharon"/>
</concept>
<concept>
<code value="99170"/>
<display value="Tarsal kink syndrome"/>
</concept>
<concept>
<code value="99171"/>
<display value="Isolated congenital ectropion"/>
</concept>
<concept>
<code value="99172"/>
<display value="Euryblepharon"/>
</concept>
<concept>
<code value="99176"/>
<display value="Congenital eyelid retraction"/>
</concept>
<concept>
<code value="99177"/>
<display value="Isolated distichiasis"/>
</concept>
<concept>
<code value="99179"/>
<display value="Kandori fleck retina"/>
</concept>
<concept>
<code value="99226"/>
<display value="Monosomy X syndrome"/>
</concept>
<concept>
<code value="99228"/>
<display value="Mosaic monosomy X syndrome"/>
</concept>
<concept>
<code value="99324"/>
<display
value="Paternal uniparental disomy of chromosome 13 syndrome"/>
</concept>
<concept>
<code value="99329"/>
<display value="48,XYYY syndrome"/>
</concept>
<concept>
<code value="99330"/>
<display value="49,XYYYY syndrome"/>
</concept>
<concept>
<code value="99361"/>
<display value="Isolated familial medullary thyroid carcinoma"/>
</concept>
<concept>
<code value="994"/>
<display value="Fetal akinesia deformation sequence"/>
</concept>
<concept>
<code value="99413"/>
<display
value="Turner syndrome due to structural X chromosome anomalies"/>
</concept>
<concept>
<code value="99429"/>
<display value="Complete androgen insensitivity syndrome"/>
</concept>
<concept>
<code value="99642"/>
<display value="Spondyloepimetaphyseal dysplasia, Handigodu type"/>
</concept>
<concept>
<code value="99646"/>
<display
value="Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"/>
</concept>
<concept>
<code value="99657"/>
<display value="Primary dystonia, DYT2 type"/>
</concept>
<concept>
<code value="99672"/>
<display value="Fried's tooth and nail syndrome"/>
</concept>
<concept>
<code value="99688"/>
<display value="Dermotrichic syndrome"/>
</concept>
<concept>
<code value="99701"/>
<display
value="Mesial temporal lobe epilepsy with hippocampal sclerosis"/>
</concept>
<concept>
<code value="99704"/>
<display
value="Early-onset obesity-hyperphagia-severe developmental delay syndrome"/>
</concept>
<concept>
<code value="99710"/>
<display value="Punctate acrokeratoderma freckle-like pigmentation"/>
</concept>
<concept>
<code value="99718"/>
<display value="Leber plus disease"/>
</concept>
<concept>
<code value="99725"/>
<display value="Pituitary gigantism"/>
</concept>
<concept>
<code value="99731"/>
<display value="Isolated sulfite oxidase deficiency"/>
</concept>
<concept>
<code value="99732"/>
<display
value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency"/>
</concept>
<concept>
<code value="99734"/>
<display value="Myotonia fluctuans"/>
</concept>
<concept>
<code value="99735"/>
<display value="Myotonia permanens"/>
</concept>
<concept>
<code value="99736"/>
<display value="Acetazolamide-responsive myotonia"/>
</concept>
<concept>
<code value="99741"/>
<display value="King-Denborough syndrome"/>
</concept>
<concept>
<code value="99742"/>
<display value="Amish lethal microcephaly"/>
</concept>
<concept>
<code value="99745"/>
<display value="Typhoid"/>
</concept>
<concept>
<code value="99748"/>
<display value="Pontiac fever"/>
</concept>
<concept>
<code value="99749"/>
<display value="Kostmann syndrome"/>
</concept>
<concept>
<code value="99750"/>
<display value="Atypical progressive supranuclear palsy syndrome"/>
</concept>
<concept>
<code value="99756"/>
<display value="Alveolar rhabdomyosarcoma"/>
</concept>
<concept>
<code value="99757"/>
<display value="Embryonal rhabdomyosarcoma"/>
</concept>
<concept>
<code value="99771"/>
<display value="Bifid uvula"/>
</concept>
<concept>
<code value="99772"/>
<display value="Cleft velum"/>
</concept>
<concept>
<code value="99776"/>
<display value="Mosaic trisomy 9 syndrome"/>
</concept>
<concept>
<code value="99789"/>
<display value="Dentin dysplasia type I"/>
</concept>
<concept>
<code value="99791"/>
<display value="Dentin dysplasia type II"/>
</concept>
<concept>
<code value="99792"/>
<display value="Dentin dysplasia-sclerotic bones syndrome"/>
</concept>
<concept>
<code value="99796"/>
<display value="Subcortical band heterotopia"/>
</concept>
<concept>
<code value="99797"/>
<display value="Anodontia"/>
</concept>
<concept>
<code value="99798"/>
<display value="Oligodontia"/>
</concept>
<concept>
<code value="998"/>
<display value="Albinism-deafness syndrome"/>
</concept>
<concept>
<code value="99802"/>
<display value="Hemimegalencephaly"/>
</concept>
<concept>
<code value="99803"/>
<display value="Haddad syndrome"/>
</concept>
<concept>
<code value="99806"/>
<display value="Oculootodental syndrome"/>
</concept>
<concept>
<code value="99807"/>
<display value="PEHO-like syndrome"/>
</concept>
<concept>
<code value="99810"/>
<display value="Familial porencephaly"/>
</concept>
<concept>
<code value="99811"/>
<display value="Neuronal intestinal pseudoobstruction"/>
</concept>
<concept>
<code value="99812"/>
<display value="LIG4 syndrome"/>
</concept>
<concept>
<code value="99819"/>
<display value="Familial gestational hyperthyroidism"/>
</concept>
<concept>
<code value="99824"/>
<display value="Lassa fever"/>
</concept>
<concept>
<code value="99825"/>
<display value="Nipah virus disease"/>
</concept>
<concept>
<code value="99826"/>
<display value="Marburg hemorrhagic fever"/>
</concept>
<concept>
<code value="99827"/>
<display value="Crimean-Congo hemorrhagic fever"/>
</concept>
<concept>
<code value="99828"/>
<display value="Dengue fever"/>
</concept>
<concept>
<code value="99829"/>
<display value="Yellow fever"/>
</concept>
<concept>
<code value="99832"/>
<display
value="Resistance to thyrotropin-releasing hormone syndrome"/>
</concept>
<concept>
<code value="99842"/>
<display value="Leukocyte adhesion deficiency type I"/>
</concept>
<concept>
<code value="99843"/>
<display value="Leukocyte adhesion deficiency type II"/>
</concept>
<concept>
<code value="99844"/>
<display value="Leukocyte adhesion deficiency type III"/>
</concept>
<concept>
<code value="99845"/>
<display value="Genetic recurrent myoglobinuria"/>
</concept>
<concept>
<code value="99846"/>
<display value="Autosomal dominant myoglobinuria"/>
</concept>
<concept>
<code value="99849"/>
<display
value="Glycogen storage disease due to muscle beta-enolase deficiency"/>
</concept>
<concept>
<code value="99852"/>
<display value="Ravine syndrome"/>
</concept>
<concept>
<code value="99853"/>
<display value="Ovarioleukodystrophy"/>
</concept>
<concept>
<code value="99854"/>
<display value="Cree leukoencephalopathy"/>
</concept>
<concept>
<code value="99856"/>
<display value="Primary syringomyelia"/>
</concept>
<concept>
<code value="99857"/>
<display value="Secondary syringomyelia"/>
</concept>
<concept>
<code value="99858"/>
<display value="Idiopathic syringomyelia"/>
</concept>
<concept>
<code value="99860"/>
<display value="Precursor B-cell acute lymphoblastic leukemia"/>
</concept>
<concept>
<code value="99861"/>
<display value="Precursor T-cell acute lymphoblastic leukemia"/>
</concept>
<concept>
<code value="99865"/>
<display value="Spermatocytic seminoma"/>
</concept>
<concept>
<code value="99867"/>
<display value="Thymoma"/>
</concept>
<concept>
<code value="99868"/>
<display value="Thymic carcinoma"/>
</concept>
<concept>
<code value="99869"/>
<display value="Thymic neuroendocrine carcinoma"/>
</concept>
<concept>
<code value="99879"/>
<display value="Familial isolated hyperparathyroidism"/>
</concept>
<concept>
<code value="99880"/>
<display value="Hyperparathyroidism-jaw tumor syndrome"/>
</concept>
<concept>
<code value="99885"/>
<display value="Isolated permanent neonatal diabetes mellitus"/>
</concept>
<concept>
<code value="99886"/>
<display value="Transient neonatal diabetes mellitus"/>
</concept>
<concept>
<code value="99887"/>
<display
value="Acute megakaryoblastic leukemia in children with Down syndrome"/>
</concept>
<concept>
<code value="99889"/>
<display value="Cushing syndrome due to ectopic ACTH secretion"/>
</concept>
<concept>
<code value="99898"/>
<display
value="Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"/>
</concept>
<concept>
<code value="999"/>
<display value="Ermine phenotype"/>
</concept>
<concept>
<code value="99901"/>
<display value="Acyl-CoA dehydrogenase 9 deficiency"/>
</concept>
<concept>
<code value="99903"/>
<display value="Spirillary rat-bite fever"/>
</concept>
<concept>
<code value="99905"/>
<display value="Streptobacillary rat-bite fever"/>
</concept>
<concept>
<code value="99912"/>
<display value="Ovarian dysgerminoma"/>
</concept>
<concept>
<code value="99914"/>
<display value="Gynandroblastoma"/>
</concept>
<concept>
<code value="99915"/>
<display value="Malignant granulosa cell tumor of the ovary"/>
</concept>
<concept>
<code value="99916"/>
<display value="Malignant Sertoli-Leydig cell tumor of the ovary"/>
</concept>
<concept>
<code value="99917"/>
<display
value="Theca steroid-producing cell malignant tumor of ovary, not further specified"/>
</concept>
<concept>
<code value="99918"/>
<display value="Streptococcal toxic-shock syndrome"/>
</concept>
<concept>
<code value="99919"/>
<display value="Staphylococcal toxic-shock syndrome"/>
</concept>
<concept>
<code value="99920"/>
<display value="Acute graft versus host disease"/>
</concept>
<concept>
<code value="99921"/>
<display value="Chronic graft versus host disease"/>
</concept>
<concept>
<code value="99922"/>
<display value="Ocular cicatricial pemphigoid"/>
</concept>
<concept>
<code value="99925"/>
<display value="Invasive mole"/>
</concept>
<concept>
<code value="99926"/>
<display value="Gestational choriocarcinoma"/>
</concept>
<concept>
<code value="99927"/>
<display value="Hydatidiform mole"/>
</concept>
<concept>
<code value="99928"/>
<display value="Placental site trophoblastic tumor"/>
</concept>
<concept>
<code value="99930"/>
<display value="Secondary pulmonary hemosiderosis"/>
</concept>
<concept>
<code value="99931"/>
<display value="Idiopathic pulmonary hemosiderosis"/>
</concept>
<concept>
<code value="99932"/>
<display value="Heiner syndrome"/>
</concept>
<concept>
<code value="99933"/>
<display value="Pleuropulmonary blastoma type 1"/>
</concept>
<concept>
<code value="99934"/>
<display value="Pleuropulmonary blastoma type 2"/>
</concept>
<concept>
<code value="99935"/>
<display value="Pleuropulmonary blastoma type 3"/>
</concept>
<concept>
<code value="99936"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2B"/>
</concept>
<concept>
<code value="99937"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2C"/>
</concept>
<concept>
<code value="99938"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2D"/>
</concept>
<concept>
<code value="99939"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2E"/>
</concept>
<concept>
<code value="99940"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2F"/>
</concept>
<concept>
<code value="99942"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2I"/>
</concept>
<concept>
<code value="99943"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2J"/>
</concept>
<concept>
<code value="99944"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2K"/>
</concept>
<concept>
<code value="99945"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2L"/>
</concept>
<concept>
<code value="99946"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2A1"/>
</concept>
<concept>
<code value="99947"/>
<display
value="Autosomal dominant Charcot-Marie-Tooth disease type 2A2"/>
</concept>
<concept>
<code value="99948"/>
<display value="Charcot-Marie-Tooth disease type 4A"/>
</concept>
<concept>
<code value="99949"/>
<display value="Charcot-Marie-Tooth disease type 4C"/>
</concept>
<concept>
<code value="99950"/>
<display value="Charcot-Marie-Tooth disease type 4D"/>
</concept>
<concept>
<code value="99951"/>
<display value="Charcot-Marie-Tooth disease type 4E"/>
</concept>
<concept>
<code value="99952"/>
<display value="Charcot-Marie-Tooth disease type 4F"/>
</concept>
<concept>
<code value="99953"/>
<display value="Charcot-Marie-Tooth disease type 4G"/>
</concept>
<concept>
<code value="99954"/>
<display value="Charcot-Marie-Tooth disease type 4H"/>
</concept>
<concept>
<code value="99955"/>
<display value="Charcot-Marie-Tooth disease type 4B1"/>
</concept>
<concept>
<code value="99956"/>
<display value="Charcot-Marie-Tooth disease type 4B2"/>
</concept>
<concept>
<code value="99960"/>
<display value="Benign recurrent intrahepatic cholestasis type 1"/>
</concept>
<concept>
<code value="99961"/>
<display value="Benign recurrent intrahepatic cholestasis type 2"/>
</concept>
<concept>
<code value="99965"/>
<display value="O'Sullivan-McLeod syndrome"/>
</concept>
<concept>
<code value="99966"/>
<display value="Atypical teratoid rhabdoid tumor"/>
</concept>
<concept>
<code value="99967"/>
<display value="Myxoid/round cell liposarcoma"/>
</concept>
<concept>
<code value="99969"/>
<display value="Pleomorphic liposarcoma"/>
</concept>
<concept>
<code value="99970"/>
<display value="Dedifferentiated liposarcoma"/>
</concept>
<concept>
<code value="99971"/>
<display value="Well-differentiated liposarcoma"/>
</concept>
<concept>
<code value="99976"/>
<display
value="Adenocarcinoma of the oesophagus and oesophagogastric junction"/>
</concept>
<concept>
<code value="99977"/>
<display value="Squamous cell carcinoma of the esophagus"/>
</concept>
<concept>
<code value="99978"/>
<display value="Perihilar cholangiocarcinoma"/>
</concept>
<concept>
<code value="99981"/>
<display value="Apnea of prematurity"/>
</concept>
<concept>
<code value="99989"/>
<display value="Intermediate DEND syndrome"/>
</concept>
<concept>
<code value="99990"/>
<display value="Brill-Zinsser disease"/>
</concept>
<concept>
<code value="99991"/>
<display value="Relapsing epidemic typhus"/>
</concept>
<concept>
<code value="99994"/>
<display value="Complex regional pain syndrome type 2"/>
</concept>
<concept>
<code value="99995"/>
<display value="Complex regional pain syndrome type 1"/>
</concept>
</include>
</compose>
</ValueSet>
IG © 2023+ MyHealth@Eu. Package myhealth.eu.fhir.mvc-package#9.1.0 based on FHIR 4.0.1. Generated 2026-05-08
