eHDSIRareDisease
type: ValueSet
node role: treeRoot
id:
  v: eHDSIRareDisease
url:
  v: http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease
  l: eHDSIRareDisease
identifier:
  system:
    v: urn:ietf:rfc:3986
    l: 3986
  value:
    v: urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63
version:
  v: 9.1.0
name:
  v: EHDSIRareDisease
title:
  v: eHDSI Rare Disease
status:
  v: active
experimental:
  v: false
date:
  v: 2026-05-08T11:21:08+02:00
publisher:
  v: MyHealth@Eu
contact:
  name:
    v: MyHealth@Eu
  telecom:
    system:
      v: url
    value:
      v: https://health.ec.europa.eu/other-pages/basic-page/myhealtheu-flyer-addressed-patients-and-health-professionals_en
description:
  v: The Value Set is used to describe the problems and medication reasons.
copyright:
  v: 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:
      v: https://www.orpha.net
      l: www.orpha.net
    concept:
      code:
        v: 10
      display:
        v: 48,XXYY syndrome
    concept:
      code:
        v: 100
      display:
        v: Ataxia-telangiectasia
    concept:
      code:
        v: 1000
      display:
        v: Ocular albinism with late-onset sensorineural deafness
    concept:
      code:
        v: 100000
      display:
        v: Reticular perineurioma
    concept:
      code:
        v: 100001
      display:
        v: Sclerosing perineurioma
    concept:
      code:
        v: 100002
      display:
        v: Extraneural perineurioma
    concept:
      code:
        v: 100003
      display:
        v: Intraneural perineurioma
    concept:
      code:
        v: 100006
      display:
        v: ABeta amyloidosis, Dutch type
    concept:
      code:
        v: 100008
      display:
        v: ACys amyloidosis
    concept:
      code:
        v: 100011
      display:
        v: Lissencephaly with cerebellar hypoplasia type A
    concept:
      code:
        v: 100012
      display:
        v: Lissencephaly with cerebellar hypoplasia type B
    concept:
      code:
        v: 100013
      display:
        v: Lissencephaly with cerebellar hypoplasia type C
    concept:
      code:
        v: 100014
      display:
        v: Lissencephaly with cerebellar hypoplasia type D
    concept:
      code:
        v: 100015
      display:
        v: Lissencephaly with cerebellar hypoplasia type E
    concept:
      code:
        v: 100016
      display:
        v: Lissencephaly with cerebellar hypoplasia type F
    concept:
      code:
        v: 100019
      display:
        v: Myelodysplastic neoplasm with increased blasts type 1
    concept:
      code:
        v: 100020
      display:
        v: Myelodysplastic neoplasm with increased blasts type 2
    concept:
      code:
        v: 100021
      display:
        v: Primary plasmacytoma of the bone
    concept:
      code:
        v: 100022
      display:
        v: Extramedullary soft tissue plasmacytoma
    concept:
      code:
        v: 100024
      display:
        v: Mu-heavy chain disease
    concept:
      code:
        v: 100025
      display:
        v: Alpha-heavy chain disease
    concept:
      code:
        v: 100026
      display:
        v: Gamma-heavy chain disease
    concept:
      code:
        v: 100031
      display:
        v: Hypoplastic amelogenesis imperfecta
    concept:
      code:
        v: 100032
      display:
        v: Hypocalcified amelogenesis imperfecta
    concept:
      code:
        v: 100033
      display:
        v: Hypomaturation amelogenesis imperfecta
    concept:
      code:
        v: 100034
      display:
        v: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
    concept:
      code:
        v: 100035
      display:
        v: Solitary necrotic nodule of the liver
    concept:
      code:
        v: 100043
      display:
        v: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
    concept:
      code:
        v: 100044
      display:
        v: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
    concept:
      code:
        v: 100045
      display:
        v: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
    concept:
      code:
        v: 100046
      display:
        v: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
    concept:
      code:
        v: 100047
      display:
        v: Isolated esophageal duplication cyst

code:
  v: 100048
display:
  v: Isolated tubular duplication of the esophagus

code:
  v: 100050
display:
  v: Hereditary angioedema type 1

code:
  v: 100051
display:
  v: Hereditary angioedema type 2

code:
  v: 100054
display:
  v: F12-related hereditary angioedema with normal C1Inh

code:
  v: 100055
display:
  v: Acquired angioedema type 2

code:
  v: 100056
display:
  v: Acquired angioedema type 1

code:
  v: 100057
display:
  v: Renin-angiotensin-aldosterone system-blocker-induced angioedema

code:
  v: 100067
display:
  v: Waterhouse-Friderichsen syndrome

code:
  v: 100069
display:
  v: Semantic dementia

code:
  v: 100070
display:
  v: Progressive non-fluent aphasia

code:
  v: 100071
display:
  v: Mosaic trisomy 3 syndrome

code:
  v: 100073
display:
  v: Neurogenic thoracic outlet syndrome

code:
  v: 100075
display:
  v: Neuroendocrine tumor of stomach

code:
  v: 100078
display:
  v: Ileal neuroendocrine tumor

code:
  v: 100079
display:
  v: Neuroendocrine neoplasm of appendix

code:
  v: 100080
display:
  v: Neuroendocrine tumor of the colon

code:
  v: 100081
display:
  v: Neuroendocrine tumor of the rectum

code:
  v: 100082
display:
  v: Neuroendocrine tumor of anal canal

code:
  v: 100083
display:
  v: Laryngeal neuroendocrine tumor

code:
  v: 100084
display:
  v: Middle ear neuroendocrine tumor

code:
  v: 100085
display:
  v: Primary hepatic neuroendocrine carcinoma

code:
  v: 100086
display:
  v: Gallbladder neuroendocrine tumor

code:
  v: 100093
display:
  v: Carcinoid syndrome

code:
  v: 1001
display:
  v: 2q37 microdeletion syndrome

code:
  v: 1003
display:
  v: Scalp defects-postaxial polydactyly syndrome

code:
  v: 1005
display:
  v: Alopecia-contractures-dwarfism-intellectual disability syndrome

code:
  v: 1006
display:
  v: Alopecia antibody deficiency

code:
  v: 1008
display:
  v: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

code:
  v: 100924
display:
  v: Porphyria due to ALA dehydratase deficiency

code:
  v: 100973
display:
  v: FRAXE intellectual disability

code:
  v: 100974
display:
  v: FRAXF syndrome

code:
  v: 100976
display:
  v: Bathing suit ichthyosis

code:
  v: 100978
display:
  v: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

code:
  v: 100984
display:
  v: Autosomal dominant spastic paraplegia type 3

code:
  v: 100985
display:
  v: Autosomal dominant spastic paraplegia type 4

code:
  v: 100986
display:
  v: Autosomal recessive spastic paraplegia type 5A

code:
  v: 100988
display:
  v: Autosomal dominant spastic paraplegia type 6

code:
  v: 100989
display:
  v: Autosomal dominant spastic paraplegia type 8

code:
  v: 100991
display:
  v: Autosomal dominant spastic paraplegia type 10

code:
  v: 100993
display:
  v: Autosomal dominant spastic paraplegia type 12

code:
  v: 100994
display:
  v: Autosomal dominant spastic paraplegia type 13

code:
  v: 100995
display:
  v: Autosomal recessive spastic paraplegia type 14

code:
  v: 100996
display:
  v: Autosomal recessive spastic paraplegia type 15

code:
  v: 100997
display:
  v: X-linked spastic paraplegia type 16

code:
  v: 100998
display:
  v: Autosomal dominant spastic paraplegia type 17

code:
  v: 100999
display:
  v: Autosomal dominant spastic paraplegia type 19

code:
  v: 101
display:
  v: Dentatorubral pallidoluysian atrophy

code:
  v: 1010
display:
  v: Autosomal dominant palmoplantar keratoderma and congenital alopecia

code:
  v: 101000
display:
  v: Autosomal recessive spastic paraplegia type 20

code:
  v: 101001
display:
  v: Autosomal recessive spastic paraplegia type 21

code:
  v: 101003
display:
  v: Autosomal recessive spastic paraplegia type 23

code:
  v: 101004
display:
  v: Autosomal recessive spastic paraplegia type 24

code:
  v: 101005
display:
  v: Autosomal recessive spastic paraplegia type 25

code:
  v: 101006
display:
  v: Autosomal recessive spastic paraplegia type 26

code:
  v: 101007
display:
  v: Autosomal recessive spastic paraplegia type 27

code:
  v: 101008
display:
  v: Autosomal recessive spastic paraplegia type 28

code:
  v: 101009
display:
  v: Autosomal dominant spastic paraplegia type 29

code:
  v: 101010
display:
  v: Autosomal spastic paraplegia type 30

code:
  v: 101011
display:
  v: Autosomal dominant spastic paraplegia type 31

code:
  v: 101016
display:
  v: Romano-Ward syndrome

code:
  v: 101023
display:
  v: Cleft hard palate

code:
  v: 101028
display:
  v: Transaldolase deficiency

code:
  v: 101029
display:
  v: Sub-cortical nodular heterotopia

code:
  v: 101030
display:
  v: Subependymal nodular heterotopia

code:
  v: 101039
display:
  v: Female restricted epilepsy with intellectual disability

code:
  v: 101041
display:
  v: Familial hypofibrinogenemia

code:
  v: 101043
display:
  v: Congenital aortic valve dysplasia

code:
  v: 101046
display:
  v: Epilepsy with auditory features

code:
  v: 101049
display:
  v: Familial hypocalciuric hypercalcemia type 2

code:
  v: 101050
display:
  v: Familial hypocalciuric hypercalcemia type 3

code:
  v: 101063
display:
  v: Situs inversus totalis

code:
  v: 101068
display:
  v: Congenital stromal corneal dystrophy

code:
  v: 101070
display:
  v: Bilateral frontoparietal polymicrogyria

code:
  v: 101071
display:
  v: Unilateral hemispheric polymicrogyria

code:
  v: 101075
display:
  v: X-linked Charcot-Marie-Tooth disease type 1

code:
  v: 101076
display:
  v: X-linked Charcot-Marie-Tooth disease type 2

code:
  v: 101077
display:
  v: X-linked Charcot-Marie-Tooth disease type 3

code:
  v: 101078
display:
  v: X-linked Charcot-Marie-Tooth disease type 4

code:
  v: 101081
display:
  v: Charcot-Marie-Tooth disease type 1A

code:
  v: 101082
display:
  v: Charcot-Marie-Tooth disease type 1B

code:
  v: 101083
display:
  v: Charcot-Marie-Tooth disease type 1C

code:
  v: 101084
display:
  v: Charcot-Marie-Tooth disease type 1D

code:
  v: 101085
display:
  v: Charcot-Marie-Tooth disease type 1F

code:
  v: 101088
display:
  v: X-linked hyper-IgM syndrome

code:
  v: 101089
display:
  v: Hyper-IgM syndrome type 2

code:
  v: 101090
display:
  v: Hyper-IgM syndrome type 3

code:
  v: 101091
display:
  v: Hyper-IgM syndrome type 4

code:
  v: 101092
display:
  v: Hyper-IgM syndrome type 5

code:
  v: 101097
display:
  v: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

code:
  v: 101101
display:
  v: Charcot-Marie-Tooth disease type 2B2

code:
  v: 101102
display:
  v: Charcot-Marie-Tooth disease type 2H

code:
  v: 101104
display:
  v: Marin-Amat syndrome

code:
  v: 101108
display:
  v: Spinocerebellar ataxia type 23

code:
  v: 101109
display:
  v: Spinocerebellar ataxia type 28

code:
  v: 101110
display:
  v: Spinocerebellar ataxia type 20

code:
  v: 101111
display:
  v: Spinocerebellar ataxia type 25

code:
  v: 101112
display:
  v: Spinocerebellar ataxia type 26

code:
  v: 101150
display:
  v: Autosomal recessive dopa-responsive dystonia

code:
  v: 101206
display:
  v: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

code:
  v: 101330
display:
  v: Porphyria cutanea tarda

code:
  v: 101334
display:
  v: African tick typhus

code:
  v: 101351
display:
  v: Familial isolated congenital asplenia

code:
  v: 1014
display:
  v: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

code:
  v: 101685
display:
  v: Rare non-syndromic intellectual disability

code:
  v: 1018
display:
  v: X-linked Alport syndrome-diffuse leiomyomatosis

code:
  v: 101932
display:
  v: Anomaly of the mitral subvalvular apparatus

code:
  v: 102
display:
  v: Multiple system atrophy

code:
  v: 1020
display:
  v: Early-onset autosomal dominant Alzheimer disease

code:
  v: 1021
display:
  v: Amaurosis-hypertrichosis syndrome

code:
  v: 1023
display:
  v: Congenital generalized hypertrichosis, Ambras type

code:
  v: 102379
display:
  v: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

code:
  v: 102381
display:
  v: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

code:
  v: 102724
display:
  v: Acute myeloid leukemia with t(8;21)(q22;q22) translocation

code:
  v: 1028
display:
  v: Amelo-onycho-hypohidrotic syndrome

code:
  v: 1031
display:
  v: Enamel-renal syndrome

code:
  v: 1035
display:
  v: Beta-mercaptolactate cysteine disulfiduria

code:
  v: 103907
display:
  v: Chronic diarrhea due to glucoamylase deficiency

code:
  v: 103908
display:
  v: Congenital sodium diarrhea

code:
  v: 103909
display:
  v: Trehalase deficiency

code:
  v: 103910
display:
  v: Congenital enterocyte heparan sulfate deficiency

code:
  v: 103918
display:
  v: Tropical pancreatitis

code:
  v: 103920
display:
  v: Undetermined colitis

code:
  v: 104
display:
  v: Leber hereditary optic neuropathy

code:
  v: 1040
display:
  v: Metaphyseal anadysplasia

code:
  v: 104075
display:
  v: Adenocarcinoma of the small intestine

code:
  v: 104076
display:
  v: Leiomyosarcoma of small intestine

code:
  v: 104077
display:
  v: Myopathic intestinal pseudoobstruction

code:
  v: 104078
display:
  v: Unclassified intestinal pseudoobstruction

code:
  v: 1041
display:
  v: Hydrops fetalis

code:
  v: 1046
display:
  v: Lethal hemolytic anemia-genital anomalies syndrome

code:
  v: 1048
display:
  v: Isolated anencephaly/exencephaly

code:
  v: 105
display:
  v: Atresia of urethra

code:
  v: 1051
display:
  v: Ramos-Arroyo syndrome

code:
  v: 1052
display:
  v: Mosaic variegated aneuploidy syndrome

code:
  v: 1053
display:
  v: Vein of Galen aneurysmal malformation

code:
  v: 1054
display:
  v: Aneurysm of sinus of Valsalva

code:
  v: 1055
display:
  v: Congenital left ventricular aneurysm

code:
  v: 1059
display:
  v: Blue rubber bleb nevus

code:
  v: 1062
display:
  v: Hereditary neurocutaneous malformation

code:
  v: 1063
display:
  v: Tufted angioma

code:
  v: 1064
display:
  v: Aniridia-renal agenesis-psychomotor retardation syndrome

code:
  v: 1065
display:
  v: Aniridia-cerebellar ataxia-intellectual disability syndrome

code:
  v: 1067
display:
  v: Aniridia-ptosis-intellectual disability-familial obesity syndrome

code:
  v: 1068
display:
  v: Aniridia-intellectual disability syndrome

code:
  v: 1069
display:
  v: Aniridia-absent patella syndrome

code:
  v: 107
display:
  v: BOR syndrome

code:
  v: 1070
display:
  v: Anisakiasis

code:
  v: 1071
display:
  v: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

code:
  v: 1072
display:
  v: Ankyloblepharon filiforme adnatum-cleft palate syndrome

code:
  v: 1074
display:
  v: Ankyloblepharon filiforme adnatum-imperforate anus syndrome

code:
  v: 1077
display:
  v: Dental ankylosis

code:
  v: 1078
display:
  v: Thumb stiffness-brachydactyly-intellectual disability syndrome

code:
  v: 108
display:
  v: Babesiosis

code:
  v: 1083
display:
  v: Microlissencephaly

code:
  v: 1084
display:
  v: Isolated lissencephaly type 1 without known genetic defects

code:
  v: 109
display:
  v: Bannayan-Riley-Ruvalcaba syndrome

code:
  v: 1094
display:
  v: Anonychia-microcephaly syndrome

code:
  v: 11
display:
  v: Pentasomy X syndrome

code:
  v: 110
display:
  v: Bardet-Biedl syndrome

code:
  v: 1101
display:
  v: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

code:
  v: 1104
display:
  v: Anophthalmia plus syndrome

code:
  v: 1106
display:
  v: Microphthalmia with limb anomalies

code:
  v: 111
display:
  v: Barth syndrome

code:
  v: 1110
display:
  v: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

code:
  v: 1112
display:
  v: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

code:
  v: 1113
display:
  v: Aphalangy-syndactyly-microcephaly syndrome

code:
  v: 1114
display:
  v: Aplasia cutis congenita

code:
  v: 1116
display:
  v: Aplasia cutis congenita-intestinal lymphangiectasia syndrome

code:
  v: 1117
display:
  v: Aplasia cutis-myopia syndrome

code:
  v: 1118
display:
  v: Fibular aplasia-ectrodactyly syndrome

code:
  v: 112
display:
  v: Bartter syndrome

code:
  v: 1120
display:
  v: Lung agenesis-heart defect-thumb anomalies syndrome

code:
  v: 1121
display:
  v: Radial deficiency-tibial hypoplasia syndrome

code:
  v: 1122
display:
  v: Ulnar hypoplasia-split foot syndrome

code:
  v: 1123
display:
  v: Caudal appendage-deafness syndrome

code:
  v: 1125
display:
  v: Ocular motor apraxia, Cogan type

code:
  v: 1126
display:
  v: Aprosencephaly cerebellar dysgenesis

code:
  v: 1129
display:
  v: Arachnodactyly-abnormal ossification-intellectual disability syndrome

code:
  v: 113
display:
  v: Bazex-Dupré-Christol syndrome

code:
  v: 1130
display:
  v: Arachnodactyly-intellectual disability-dysmorphism syndrome

code:
  v: 1131
display:
  v: X-linked mandibulofacial dysostosis

code:
  v: 1133
display:
  v: AREDYLD syndrome

code:
  v: 1134
display:
  v: Isolated arrhinia

code:
  v: 114
display:
  v: Auriculoosteodysplasia

code:
  v: 1143
display:
  v: Neurogenic arthrogryposis multiplex congenita

code:
  v: 1144
display:
  v: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

code:
  v: 1145
display:
  v: Infantile-onset X-linked spinal muscular atrophy

code:
  v: 1146
display:
  v: Distal arthrogryposis type 1

code:
  v: 1147
display:
  v: Sheldon-Hall syndrome

code:
  v: 1149
display:
  v: Kuskokwim syndrome

code:
  v: 115
display:
  v: Congenital contractural arachnodactyly

code:
  v: 1150
display:
  v: Arthrogryposis multiplex congenita-whistling face syndrome

code:
  v: 1154
display:
  v: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

code:
  v: 1159
display:
  v: Progressive pseudorheumatoid dysplasia

code:
  v: 116
display:
  v: Beckwith-Wiedemann syndrome

code:
  v: 1160
display:
  v: Chylous ascites

code:
  v: 1163
display:
  v: Aspergillosis

code:
  v: 1164
display:
  v: Allergic bronchopulmonary aspergillosis

code:
  v: 1166
display:
  v: Congenital unilateral hypoplasia of depressor anguli oris

code:
  v: 1168
display:
  v: Ataxia-oculomotor apraxia type 1

code:
  v: 117
display:
  v: Behçet disease

code:
  v: 1170
display:
  v: Autosomal recessive cerebelloparenchymal disorder type 3

code:
  v: 1171
display:
  v: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

code:
  v: 1173
display:
  v: Cerebellar ataxia-hypogonadism syndrome

code:
  v: 1174
display:
  v: Cerebellar ataxia-ectodermal dysplasia syndrome

code:
  v: 1175
display:
  v: X-linked progressive cerebellar ataxia

code:
  v: 1177
display:
  v: Early-onset cerebellar ataxia with retained tendon reflexes

code:
  v: 1178
display:
  v: Ataxia-tapetoretinal degeneration syndrome

code:
  v: 1179
display:
  v: Benign paroxysmal tonic upgaze of childhood with ataxia

code:
  v: 118
display:
  v: Beta-mannosidosis

code:
  v: 1180
display:
  v: Ataxia-hypogonadism-choroidal dystrophy syndrome

code:
  v: 1182
display:
  v: Spastic ataxia with congenital miosis

code:
  v: 1183
display:
  v: Opsoclonus-myoclonus syndrome

code:
  v: 1184
display:
  v: Ataxia-photosensitivity-short stature syndrome

code:
  v: 1185
display:
  v: Spinocerebellar ataxia-dysmorphism syndrome

code:
  v: 1186
display:
  v: Infantile-onset spinocerebellar ataxia

code:
  v: 1187
display:
  v: Lethal ataxia with deafness and optic atrophy

code:
  v: 1188
display:
  v: Ataxia-deafness-intellectual disability syndrome

code:
  v: 119
display:
  v: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

code:
  v: 1190
display:
  v: Atelosteogenesis type I

code:
  v: 1192
display:
  v: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

code:
  v: 1193
display:
  v: Atkin-Flaitz syndrome

code:
  v: 1194
display:
  v: TMEM70-related mitochondrial encephalo-cardio-myopathy

code:
  v: 1195
display:
  v: Congenital atransferrinemia

code:
  v: 1198
display:
  v: Colonic atresia

code:
  v: 1199
display:
  v: Esophageal atresia

code:
  v: 1200
display:
  v: Burn-McKeown syndrome

code:
  v: 1201
display:
  v: Small bowel atresia

code:
  v: 1202
display:
  v: Larynx atresia

code:
  v: 1203
display:
  v: Duodenal atresia

code:
  v: 1205
display:
  v: Mitral atresia

code:
  v: 1207
display:
  v: Pulmonary atresia with ventricular septal defect

code:
  v: 1208
display:
  v: Pulmonary atresia-intact ventricular septum syndrome

code:
  v: 1209
display:
  v: Tricuspid atresia

code:
  v: 1214
display:
  v: Progressive hemifacial atrophy

code:
  v: 1215
display:
  v: Autosomal dominant optic atrophy plus syndrome

code:
  v: 1216
display:
  v: Autosomal dominant congenital benign spinal muscular atrophy

code:
  v: 1217
display:
  v: Spinal atrophy-ophthalmoplegia-pyramidal syndrome

code:
  v: 122
display:
  v: Birt-Hogg-Dubé syndrome

code:
  v: 1221
display:
  v: Cheilitis glandularis

code:
  v: 1223
display:
  v: Balantidiasis

code:
  v: 1225
display:
  v: Baller-Gerold syndrome

code:
  v: 1226
display:
  v: Bamforth-Lazarus syndrome

code:
  v: 1227
display:
  v: Bangstad syndrome

code:
  v: 1228
display:
  v: Banki syndrome

code:
  v: 1229
display:
  v: Congenital intrauterine infection-like syndrome

code:
  v: 123
display:
  v: Björnstad syndrome

code:
  v: 1231
display:
  v: Barber-Say syndrome

code:
  v: 1234
display:
  v: Bartsocas-Papas syndrome

code:
  v: 1236
display:
  v: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

code:
  v: 1237
display:
  v: Beemer-Ertbruggen syndrome

code:
  v: 1239
display:
  v: Behr syndrome

code:
  v: 124
display:
  v: Diamond-Blackfan anemia

code:
  v: 1241
display:
  v: Bencze syndrome

code:
  v: 1243
display:
  v: Best vitelliform macular dystrophy

code:
  v: 1246
display:
  v: Brachydactyly-nystagmus-cerebellar ataxia syndrome

code:
  v: 1247
display:
  v: Schistosomiasis

code:
  v: 1248
display:
  v: Maxillonasal dysplasia

code:
  v: 125
display:
  v: Bloom syndrome

code:
  v: 1252
display:
  v: Blepharonasofacial malformation syndrome

code:
  v: 1253
display:
  v: Ascher syndrome

code:
  v: 1259
display:
  v: Blepharoptosis-myopia-ectopia lentis syndrome

code:
  v: 126
display:
  v: Blepharophimosis-ptosis-epicanthus inversus syndrome

code:
  v: 1261
display:
  v: Bonnemann-Meinecke-Reich syndrome

code:
  v: 1262
display:
  v: Böök syndrome

code:
  v: 1263
display:
  v: Boomerang dysplasia

code:
  v: 1264
display:
  v: Tricho-retino-dento-digital syndrome

code:
  v: 1267
display:
  v: Botulism

code:
  v: 127
display:
  v: Borjeson-Forssman-Lehmann syndrome

code:
  v: 1270
display:
  v: Bowen-Conradi syndrome

code:
  v: 1272
display:
  v: Aymé-Gripp syndrome

code:
  v: 1275
display:
  v: Brachydactyly-elbow wrist dysplasia syndrome

code:
  v: 1276
display:
  v: Brachydactyly-arterial hypertension syndrome

code:
  v: 1277
display:
  v: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

code:
  v: 1278
display:
  v: Brachydactyly-preaxial hallux varus syndrome

code:
  v: 128
display:
  v: Diphyllobothriasis

code:
  v: 129
display:
  v: Pseudopelade of Brocq

code:
  v: 1292
display:
  v: Brachymorphism-onychodysplasia-dysphalangism syndrome

code:
  v: 1295
display:
  v: Brachytelephalangy-dysmorphism-Kallmann syndrome

code:
  v: 1296
display:
  v: Lambert syndrome

code:
  v: 1297
display:
  v: Branchio-oculo-facial syndrome

code:
  v: 1299
display:
  v: Branchioskeletogenital syndrome

code:
  v: 13
display:
  v: 6-pyruvoyl-tetrahydropterin synthase deficiency

code:
  v: 130
display:
  v: Brugada syndrome

code:
  v: 1300
display:
  v: Autosomal dominant popliteal pterygium syndrome

code:
  v: 1302
display:
  v: Cryptogenic organizing pneumonia

code:
  v: 1304
display:
  v: Brucellosis

code:
  v: 1305
display:
  v: Feingold syndrome

code:
  v: 1307
display:
  v: Distal limb deficiencies-micrognathia syndrome

code:
  v: 1308
display:
  v: C syndrome

code:
  v: 1309
display:
  v: Medullary sponge kidney

code:
  v: 131
display:
  v: Budd-Chiari syndrome

code:
  v: 1310
display:
  v: Caffey disease

code:
  v: 1313
display:
  v: Infantile choroidocerebral calcification syndrome

code:
  v: 1314
display:
  v: Symmetrical thalamic calcifications

code:
  v: 1318
display:
  v: Campomelia, Cumming type

code:
  v: 1319
display:
  v: Camptobrachydactyly

code:
  v: 132
display:
  v: Hereditary butyrylcholinesterase deficiency

code:
  v: 1320
display:
  v: Idiopathic camptocormia

code:
  v: 1321
display:
  v: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

code:
  v: 1323
display:
  v: Camptodactyly-joint contractures-facial skeletal defects syndrome

code:
  v: 1325
display:
  v: Camptodactyly-taurinuria syndrome

code:
  v: 1326
display:
  v: Camptodactyly syndrome, Guadalajara type 2

code:
  v: 1327
display:
  v: Camptodactyly syndrome, Guadalajara type 1

code:
  v: 1328
display:
  v: Camurati-Engelmann disease

code:
  v: 1329
display:
  v: Complete atrioventricular septal defect

code:
  v: 133
display:
  v: Chronic beryllium disease

code:
  v: 1330
display:
  v: Partial atrioventricular septal defect

code:
  v: 1331
display:
  v: Familial prostate cancer

code:
  v: 1332
display:
  v: Medullary thyroid carcinoma

code:
  v: 1333
display:
  v: Familial pancreatic carcinoma

code:
  v: 1334
display:
  v: Chronic mucocutaneous candidiasis

code:
  v: 1335
display:
  v: Pentalogy of Cantrell

code:
  v: 1336
display:
  v: Hyperkeratosis-hyperpigmentation syndrome

code:
  v: 1338
display:
  v: Heart defect-tongue hamartoma-polysyndactyly syndrome

code:
  v: 134
display:
  v: Beta-ketothiolase deficiency

code:
  v: 1340
display:
  v: Cardiofaciocutaneous syndrome

code:
  v: 1342
display:
  v: Heart-hand syndrome type 3

code:
  v: 1344
display:
  v: Isolated atrial standstill

code:
  v: 1345
display:
  v: Cardiomyopathy-cataract-hip spine disease syndrome

code:
  v: 1349
display:
  v: Mitochondrial DNA-related cardiomyopathy and hearing loss

code:
  v: 135
display:
  v: CACH syndrome

code:
  v: 1350
display:
  v: Heart-hand syndrome type 2

code:
  v: 1352
display:
  v: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

code:
  v: 1354
display:
  v: Heart defects-limb shortening syndrome

code:
  v: 1355
display:
  v: Congenital heart defect-round face-developmental delay syndrome

code:
  v: 1358
display:
  v: Carey-Fineman-Ziter syndrome

code:
  v: 1359
display:
  v: Carney complex

code:
  v: 136
display:
  v: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

code:
  v: 1361
display:
  v: Carnosinase deficiency

code:
  v: 1366
display:
  v: Autosomal recessive palmoplantar keratoderma and congenital alopecia

code:
  v: 1368
display:
  v: Cataract-ataxia-deafness syndrome

code:
  v: 1369
display:
  v: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

code:
  v: 1373
display:
  v: Cataract-aberrant oral frenula-growth delay syndrome

code:
  v: 1375
display:
  v: Cataract-hypertrichosis-intellectual disability syndrome

code:
  v: 137577
display:
  v: Neonatal hypoxic and ischemic brain injury

code:
  v: 137583
display:
  v: Vulvar intraepithelial neoplasia

code:
  v: 137593
display:
  v: Infectious epithelial keratitis

code:
  v: 137596
display:
  v: Neurotrophic keratopathy

code:
  v: 137599
display:
  v: Herpes simplex virus stromal keratitis

code:
  v: 137602
display:
  v: Corneal endotheliitis

code:
  v: 137605
display:
  v: Legius syndrome

code:
  v: 137608
display:
  v: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

code:
  v: 137617
display:
  v: Nephrogenic systemic fibrosis

code:
  v: 137622
display:
  v: Intractable diarrhea-choanal atresia-eye anomalies syndrome

code:
  v: 137625
display:
  v: Glycogen storage disease due to muscle and heart glycogen synthase deficiency

code:
  v: 137628
display:
  v: Cardiac anomalies-heterotaxy syndrome

code:
  v: 137631
display:
  v: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

code:
  v: 137634
display:
  v: Overgrowth-macrocephaly-facial dysmorphism syndrome

code:
  v: 137639
display:
  v: Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

code:
  v: 137672
display:
  v: Pellucid marginal degeneration

code:
  v: 137675
display:
  v: Histiocytoid cardiomyopathy

code:
  v: 137678
display:
  v: Spondyloepiphyseal dysplasia with metatarsal shortening

code:
  v: 137681
display:
  v: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

code:
  v: 137686
display:
  v: Asherman syndrome

code:
  v: 137698
display:
  v: Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

code:
  v: 1377
display:
  v: Cataract-microcornea syndrome

code:
  v: 137754
display:
  v: Aminoacylase 1 deficiency

code:
  v: 137776
display:
  v: Lethal congenital contracture syndrome type 2

code:
  v: 137783
display:
  v: Lethal congenital contracture syndrome type 3

code:
  v: 137810
display:
  v: Nodular cutaneous amyloidosis

code:
  v: 137814
display:
  v: Macular amyloidosis

code:
  v: 137817
display:
  v: Arachnoiditis

code:
  v: 137820
display:
  v: Extrapelvic endometriosis

code:
  v: 137831
display:
  v: X-linked intellectual disability-cerebellar hypoplasia syndrome

code:
  v: 137834
display:
  v: Frank-Ter Haar syndrome

code:
  v: 137839
display:
  v: Lemierre syndrome

code:
  v: 137867
display:
  v: Madras motor neuron disease

code:
  v: 137888
display:
  v: Auriculocondylar syndrome

code:
  v: 137893
display:
  v: Male infertility due to large-headed multiflagellar polyploid spermatozoa

code:
  v: 137898
display:
  v: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

code:
  v: 137908
display:
  v: Hypotonia with lactic acidemia and hyperammonemia

code:
  v: 137914
display:
  v: Choanal atresia

code:
  v: 137917
display:
  v: Choanal atresia, unilateral

code:
  v: 137920
display:
  v: Choanal atresia, bilateral

code:
  v: 137926
display:
  v: Primary laryngeal lymphangioma

code:
  v: 137929
display:
  v: Neonatal brainstem dysfunction

code:
  v: 137932
display:
  v: Congenital laryngeal palsy

code:
  v: 137935
display:
  v: Airway infantile hemangioma

code:
  v: 138
display:
  v: CHARGE syndrome

code:
  v: 1380
display:
  v: Cataract-nephropathy-encephalopathy syndrome

code:
  v: 1381
display:
  v: Cataract-intellectual disability-anal atresia-urinary defects syndrome

code:
  v: 1383
display:
  v: Cataract-deafness-hypogonadism syndrome

code:
  v: 1387
display:
  v: Cataract-intellectual disability-hypogonadism syndrome

code:
  v: 1388
display:
  v: Catel-Manzke syndrome

code:
  v: 1389
display:
  v: Cortical blindness-intellectual disability-polydactyly syndrome

code:
  v: 139
display:
  v: CHILD syndrome

code:
  v: 1390
display:
  v: Night blindness-skeletal anomalies-dysmorphism syndrome

code:
  v: 1393
display:
  v: Cerebrocostomandibular syndrome

code:
  v: 139396
display:
  v: X-linked cerebral adrenoleukodystrophy

code:
  v: 139399
display:
  v: Adrenomyeloneuropathy

code:
  v: 1394
display:
  v: Cerebrofaciothoracic dysplasia

code:
  v: 139402
display:
  v: Drug reaction with eosinophilia and systemic symptoms

code:
  v: 139406
display:
  v: Encephalopathy due to prosaposin deficiency

code:
  v: 139411
display:
  v: Carney triad

code:
  v: 139414
display:
  v: Congenital panfollicular nevus

code:
  v: 139417
display:
  v: Acute transverse myelitis

code:
  v: 139423
display:
  v: Idiopathic acute transverse myelitis

code:
  v: 139426
display:
  v: Perioral myoclonia with absences

code:
  v: 139431
display:
  v: Epilepsy with eyelid myoclonia

code:
  v: 139436
display:
  v: Multicentric reticulohistiocytosis

code:
  v: 139441
display:
  v: Hypomyelination with atrophy of basal ganglia and cerebellum

code:
  v: 139444
display:
  v: Leukoencephalopathy with bilateral anterior temporal lobe cysts

code:
  v: 139447
display:
  v: Progressive cavitating leukoencephalopathy

code:
  v: 139450
display:
  v: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

code:
  v: 139455
display:
  v: Autosomal recessive bestrophinopathy

code:
  v: 139466
display:
  v: SERKAL syndrome

code:
  v: 139471
display:
  v: Microphthalmia with brain and digit anomalies

code:
  v: 139474
display:
  v: 17q11.2 microduplication syndrome

code:
  v: 139480
display:
  v: Autosomal recessive spastic paraplegia type 39

code:
  v: 139485
display:
  v: Autosomal recessive ataxia due to ubiquinone deficiency

code:
  v: 139507
display:
  v: Dietary iron overload disease

code:
  v: 139512
display:
  v: Neuropathy with hearing impairment

code:
  v: 139515
display:
  v: Charcot-Marie-Tooth disease type 4J

code:
  v: 139518
display:
  v: Distal hereditary motor neuropathy type 1

code:
  v: 139525
display:
  v: Distal hereditary motor neuropathy type 2

code:
  v: 139536
display:
  v: Distal hereditary motor neuropathy type 5

code:
  v: 139547
display:
  v: Distal spinal muscular atrophy type 3

code:
  v: 139552
display:
  v: Distal hereditary motor neuropathy, Jerash type

code:
  v: 139557
display:
  v: X-linked distal spinal muscular atrophy type 3

code:
  v: 139564
display:
  v: Hereditary sensory and autonomic neuropathy type 1B

code:
  v: 139573
display:
  v: Hereditary sensory and autonomic neuropathy with deafness and global delay

code:
  v: 139578
display:
  v: Mutilating hereditary sensory neuropathy with spastic paraplegia

code:
  v: 139583
display:
  v: X-linked hereditary sensory and autonomic neuropathy with deafness

code:
  v: 139589
display:
  v: Distal hereditary motor neuropathy type 7

code:
  v: 1397
display:
  v: Hydrocephaly-cerebellar agenesis syndrome

code:
  v: 1398
display:
  v: Isolated cerebellar agenesis

code:
  v: 1399
display:
  v: Richards-Rundle syndrome

code:
  v: 14
display:
  v: Abetalipoproteinemia

code:
  v: 140
display:
  v: Campomelic dysplasia

code:
  v: 1401
display:
  v: CHAND syndrome

code:
  v: 140286
display:
  v: Secondary hypoparathyroidism due to impaired parathormon secretion

code:
  v: 140436
display:
  v: Primary intraosseous venous malformation

code:
  v: 140481
display:
  v: Autosomal dominant slowed nerve conduction velocity

code:
  v: 1406
display:
  v: Charlie M syndrome

code:
  v: 140896
display:
  v: Severe acute respiratory syndrome

code:
  v: 140905
display:
  v: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

code:
  v: 140908
display:
  v: Brachydactyly type B2

code:
  v: 140917
display:
  v: Stapes ankylosis with broad thumbs and toes

code:
  v: 140922
display:
  v: Titin-related limb-girdle muscular dystrophy R10

code:
  v: 140927
display:
  v: Self-limited neonatal-infantile epilepsy

code:
  v: 140933
display:
  v: Linear atrophoderma of Moulin

code:
  v: 140936
display:
  v: Lelis syndrome

code:
  v: 140941
display:
  v: Short stature due to primary acid-labile subunit deficiency

code:
  v: 140944
display:
  v: CLOVES syndrome

code:
  v: 140949
display:
  v: Low-flow priapism

code:
  v: 140952
display:
  v: Syndactyly-telecanthus-anogenital and renal malformations syndrome

code:
  v: 140957
display:
  v: Autosomal dominant macrothrombocytopenia

code:
  v: 140963
display:
  v: Bilateral microtia-deafness-cleft palate syndrome

code:
  v: 140966
display:
  v: Palmoplantar keratoderma, Nagashima type

code:
  v: 140969
display:
  v: Saldino-Mainzer syndrome

code:
  v: 140976
display:
  v: RHYNS syndrome

code:
  v: 140989
display:
  v: Primary angiitis of the central nervous system

code:
  v: 141
display:
  v: Canavan disease

code:
  v: 1410
display:
  v: Uncombable hair syndrome

code:
  v: 141000
display:
  v: Orofaciodigital syndrome type 11

code:
  v: 141007
display:
  v: Orofaciodigital syndrome type 9

code:
  v: 141013
display:
  v: First branchial cleft anomaly

code:
  v: 141022
display:
  v: Second branchial cleft anomaly

code:
  v: 141030
display:
  v: Third branchial cleft anomaly

code:
  v: 141037
display:
  v: Fourth branchial cleft anomaly

code:
  v: 141046
display:
  v: Cervical dermoid cyst

code:
  v: 141051
display:
  v: Facial dermoid cyst

code:
  v: 141061
display:
  v: Commissural lip fistula

code:
  v: 141064
display:
  v: Isolated lower lip fistula

code:
  v: 141067
display:
  v: Cervicofacial fibrochondroma

code:
  v: 141071
display:
  v: Isolated digestive duplication cyst of the tongue

code:
  v: 141074
display:
  v: External auditory canal aplasia/hypoplasia

code:
  v: 141077
display:
  v: Epignathus

code:
  v: 141083
display:
  v: Nasolacrimal duct cyst

code:
  v: 141091
display:
  v: Polyrrhinia

code:
  v: 141096
display:
  v: Supernumerary nostril

code:
  v: 141099
display:
  v: Proboscis lateralis

code:
  v: 141103
display:
  v: Nasal dermoid cyst

code:
  v: 141107
display:
  v: Nasopharyngeal teratoma

code:
  v: 141112
display:
  v: Nasal glial heterotopia

code:
  v: 141115
display:
  v: Nasal ganglioglioma

code:
  v: 141118
display:
  v: Nasal encephalocele

code:
  v: 141121
display:
  v: Congenital subglottic stenosis

code:
  v: 141124
display:
  v: Congenital laryngeal cyst

code:
  v: 141127
display:
  v: Congenital tracheal stenosis

code:
  v: 141132
display:
  v: Oculo-auriculo-vertebral spectrum

code:
  v: 141145
display:
  v: Hemifacial hyperplasia

code:
  v: 141148
display:
  v: Hemifacial myohyperplasia

code:
  v: 141152
display:
  v: Isolated congenital hypoglossia/aglossia

code:
  v: 141163
display:
  v: Glossopalatine ankylosis

code:
  v: 141168
display:
  v: Frontonasal arteriovenous malformation

code:
  v: 141171
display:
  v: Maxillary arteriovenous malformation

code:
  v: 141174
display:
  v: Mandibular arteriovenous malformation

code:
  v: 141179
display:
  v: Non-involuting congenital hemangioma

code:
  v: 141184
display:
  v: Rapidly involuting congenital hemangioma

code:
  v: 141189
display:
  v: Cerebrofacial arteriovenous metameric syndrome

code:
  v: 141194
display:
  v: Cerebrofacial arteriovenous metameric syndrome type 1

code:
  v: 141199
display:
  v: Cerebrofacial arteriovenous metameric syndrome type 3

code:
  v: 1412
display:
  v: Tarsal-carpal coalition syndrome

code:
  v: 141209
display:
  v: Diffuse lymphatic malformation

code:
  v: 141214
display:
  v: Isolated congenital syngnathia

code:
  v: 141219
display:
  v: Nasal dorsum fistula

code:
  v: 141239
display:
  v: Median cleft of the upper lip and maxilla

code:
  v: 141242
display:
  v: Paramedian nasal cleft

code:
  v: 141258
display:
  v: Tessier number 4 facial cleft

code:
  v: 141261
display:
  v: Tessier number 5 facial cleft

code:
  v: 141265
display:
  v: Tessier number 6 facial cleft

code:
  v: 141276
display:
  v: Tessier number 7 facial cleft

code:
  v: 141288
display:
  v: Midline cervical cleft

code:
  v: 141291
display:
  v: Cleft lip and alveolus

code:
  v: 141333
display:
  v: Biemond syndrome type 2

code:
  v: 1414
display:
  v: Cholestasis-lymphedema syndrome

code:
  v: 1415
display:
  v: Hardikar syndrome

code:
  v: 1416
display:
  v: Familial calcium pyrophosphate deposition

code:
  v: 142
display:
  v: Anaplastic thyroid carcinoma

code:
  v: 1422
display:
  v: Chondrodysplasia-difference of sex development syndrome

code:
  v: 1423
display:
  v: Lethal recessive chondrodysplasia

code:
  v: 1425
display:
  v: Desbuquois syndrome

code:
  v: 1426
display:
  v: Greenberg dysplasia

code:
  v: 1427
display:
  v: Autosomal recessive otospondylomegaepiphyseal dysplasia

code:
  v: 1429
display:
  v: Benign hereditary chorea

code:
  v: 143
display:
  v: Parathyroid carcinoma

code:
  v: 1433
display:
  v: Choroidal atrophy-alopecia syndrome

code:
  v: 1435
display:
  v: Xq21 microdeletion syndrome

code:
  v: 1436
display:
  v: X-linked skeletal dysplasia-intellectual disability syndrome

code:
  v: 1437
display:
  v: Ring chromosome 1 syndrome

code:
  v: 1438
display:
  v: Ring chromosome 10 syndrome

code:
  v: 1439
display:
  v: Ring chromosome 12 syndrome

code:
  v: 144
display:
  v: Lynch syndrome

code:
  v: 1440
display:
  v: Ring chromosome 14 syndrome

code:
  v: 1441
display:
  v: Ring chromosome 17 syndrome

code:
  v: 1442
display:
  v: Ring chromosome 18 syndrome

code:
  v: 1443
display:
  v: Ring chromosome 19 syndrome

code:
  v: 1444
display:
  v: Ring chromosome 20 syndrome

code:
  v: 1445
display:
  v: Ring chromosome 21 syndrome

code:
  v: 1446
display:
  v: Ring chromosome 22 syndrome

code:
  v: 1447
display:
  v: Ring chromosome 4 syndrome

code:
  v: 1448
display:
  v: Ring chromosome 6 syndrome

code:
  v: 1449
display:
  v: Ring chromosome 7 syndrome

code:
  v: 145
display:
  v: Hereditary breast and/or ovarian cancer syndrome

code:
  v: 1450
display:
  v: Ring chromosome 8 syndrome

code:
  v: 1451
display:
  v: CINCA syndrome

code:
  v: 1452
display:
  v: Cleidocranial dysplasia

code:
  v: 1453
display:
  v: Cleidorhizomelic syndrome

code:
  v: 1454
display:
  v: Joubert syndrome with hepatic defect

code:
  v: 1456
display:
  v: Middle aortic syndrome

code:
  v: 1457
display:
  v: Aorta coarctation

code:
  v: 1458
display:
  v: CODAS syndrome

code:
  v: 1459
display:
  v: Celiac disease-epilepsy-cerebral calcification syndrome

code:
  v: 146
display:
  v: Differentiated thyroid carcinoma

code:
  v: 1460
display:
  v: Isolated complex III deficiency

code:
  v: 1461
display:
  v: Criss-cross heart

code:
  v: 1464
display:
  v: Univentricular heart

code:
  v: 1465
display:
  v: Coffin-Siris syndrome

code:
  v: 1466
display:
  v: COFS syndrome

code:
  v: 1467
display:
  v: Cogan syndrome

code:
  v: 147
display:
  v: Carbamoyl-phosphate synthetase 1 deficiency

code:
  v: 1471
display:
  v: Coloboma of macula-brachydactyly type B syndrome

code:
  v: 1473
display:
  v: Uveal coloboma-cleft lip and palate-intellectual disability

code:
  v: 1475
display:
  v: Renal coloboma syndrome

code:
  v: 1478
display:
  v: Interatrial communication

code:
  v: 1479
display:
  v: Atrial septal defect-atrioventricular conduction defects syndrome

code:
  v: 1482
display:
  v: Gonococcal conjunctivitis

code:
  v: 1484
display:
  v: Contractures-ectodermal dysplasia-cleft lip/palate syndrome

code:
  v: 1485
display:
  v: Arthrogryposis-hyperkeratosis syndrome, lethal form

code:
  v: 1486
display:
  v: Lethal congenital contracture syndrome type 1

code:
  v: 1487
display:
  v: Cooks syndrome

code:
  v: 1488
display:
  v: Cooper-Jabs syndrome

code:
  v: 1489
display:
  v: Whooping cough

code:
  v: 1490
display:
  v: Corneal dystrophy-perceptive deafness syndrome

code:
  v: 1493
display:
  v: Vici syndrome

code:
  v: 1495
display:
  v: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

code:
  v: 1496
display:
  v: Corpus callosum agenesis-neuronopathy syndrome

code:
  v: 1497
display:
  v: X-linked complicated corpus callosum dysgenesis

code:
  v: 15
display:
  v: Achondroplasia

code:
  v: 150
display:
  v: Nasopharyngeal carcinoma

code:
  v: 1501
display:
  v: Adrenocortical carcinoma

code:
  v: 1506
display:
  v: Thin ribs-tubular bones-dysmorphism syndrome

code:
  v: 1507
display:
  v: Autosomal recessive Robinow syndrome

code:
  v: 1508
display:
  v: Coxoauricular syndrome

code:
  v: 1509
display:
  v: Coxopodopatellar syndrome

code:
  v: 1512
display:
  v: Crane-Heise syndrome

code:
  v: 1513
display:
  v: Craniodiaphyseal dysplasia

code:
  v: 1514
display:
  v: Craniodigital-intellectual disability syndrome

code:
  v: 1515
display:
  v: Cranioectodermal dysplasia

code:
  v: 1516
display:
  v: Non-syndromic bilambdoid and sagittal craniosynostosis

code:
  v: 1517
display:
  v: Cantú syndrome

code:
  v: 1519
display:
  v: SPECC1L-related hypertelorism syndrome

code:
  v: 1520
display:
  v: Craniofrontonasal dysplasia

code:
  v: 1521
display:
  v: Craniofrontonasal dysplasia-Poland anomaly syndrome

code:
  v: 1522
display:
  v: Craniometaphyseal dysplasia

code:
  v: 1524
display:
  v: Craniomicromelic syndrome

code:
  v: 1525
display:
  v: Cranio-osteoarthropathy

code:
  v: 1527
display:
  v: Craniosynostosis, Philadelphia type

code:
  v: 1528
display:
  v: Craniotelencephalic dysplasia

code:
  v: 1529
display:
  v: Craniofacial-deafness-hand syndrome

code:
  v: 1532
display:
  v: Gómez-López-Hernández syndrome

code:
  v: 1538
display:
  v: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

code:
  v: 154
display:
  v: Familial isolated dilated cardiomyopathy

code:
  v: 1540
display:
  v: Jackson-Weiss syndrome

code:
  v: 1541
display:
  v: Craniosynostosis, Boston type

code:
  v: 1544
display:
  v: Benign focal seizures of adolescence

code:
  v: 1545
display:
  v: Crisponi syndrome

code:
  v: 1546
display:
  v: Cryptococcosis

code:
  v: 1547
display:
  v: Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

code:
  v: 1548
display:
  v: Cryptorchidism-arachnodactyly-intellectual disability syndrome

code:
  v: 1551
display:
  v: Familial benign copper deficiency

code:
  v: 1552
display:
  v: Currarino syndrome

code:
  v: 1553
display:
  v: Curry-Jones syndrome

code:
  v: 1555
display:
  v: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

code:
  v: 1556
display:
  v: Cutis marmorata telangiectatica congenita

code:
  v: 155838
display:
  v: Pinnae fistula or cyst

code:
  v: 155878
display:
  v: Submucosal cleft palate

code:
  v: 155884
display:
  v: Coloboma of superior eyelid

code:
  v: 155889
display:
  v: Coloboma of inferior eyelid

code:
  v: 156
display:
  v: Carnitine palmitoyl transferase 1A deficiency

code:
  v: 1560
display:
  v: Cysticercosis

code:
  v: 1561
display:
  v: Fatal infantile cytochrome C oxidase deficiency

code:
  v: 1563
display:
  v: Dahlberg-Borer-Newcomer syndrome

code:
  v: 1566
display:
  v: Dandy-Walker malformation-postaxial polydactyly syndrome

code:
  v: 156728
display:
  v: Spondyloepimetaphyseal dysplasia, matrilin-3 type

code:
  v: 156731
display:
  v: Dyssegmental dysplasia, Rolland-Desbuquois type

code:
  v: 1568
display:
  v: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

code:
  v: 157
display:
  v: Carnitine palmitoyltransferase II deficiency

code:
  v: 1570
display:
  v: Symbrachydactyly of hands and feet

code:
  v: 1571
display:
  v: Knobloch syndrome

code:
  v: 157215
display:
  v: Hereditary hypophosphatemic rickets with hypercalciuria

code:
  v: 1573
display:
  v: Hypotrichosis with juvenile macular degeneration

code:
  v: 1574
display:
  v: Retinal degeneration-nanophthalmos-glaucoma syndrome

code:
  v: 157713
display:
  v: Congenital or early infantile CACH syndrome

code:
  v: 157716
display:
  v: Late infantile CACH syndrome

code:
  v: 157719
display:
  v: Juvenile or adult CACH syndrome

code:
  v: 157769
display:
  v: Situs ambiguus

code:
  v: 157791
display:
  v: Epithelioid hemangioendothelioma

code:
  v: 157794
display:
  v: Hereditary mixed polyposis syndrome

code:
  v: 157798
display:
  v: Serrated polyposis syndrome

code:
  v: 1578
display:
  v: Pterin-4 alpha-carbinolamine dehydratase deficiency

code:
  v: 157801
display:
  v: Mesoaxial synostotic syndactyly with phalangeal reduction

code:
  v: 157808
display:
  v: Isolated pseudoarthrosis of the limbs

code:
  v: 157820
display:
  v: Cold-induced sweating syndrome

code:
  v: 157823
display:
  v: Klüver-Bucy syndrome

code:
  v: 157826
display:
  v: Congenital epulis

code:
  v: 157832
display:
  v: Craniorhiny

code:
  v: 157835
display:
  v: Paroxysmal hemicrania

code:
  v: 157846
display:
  v: Neuroferritinopathy

code:
  v: 157850
display:
  v: Pantothenate kinase-associated neurodegeneration

code:
  v: 157941
display:
  v: Huntington disease-like 1

code:
  v: 157946
display:
  v: Huntington disease-like 3

code:
  v: 157949
display:
  v: Combined immunodeficiency with granulomatosis

code:
  v: 157954
display:
  v: ANE syndrome

code:
  v: 157962
display:
  v: Oculoauricular syndrome, Schorderet type

code:
  v: 157965
display:
  v: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

code:
  v: 157973
display:
  v: Congenital muscular dystrophy due to LMNA mutation

code:
  v: 157991
display:
  v: Generalized eruptive histiocytosis

code:
  v: 157997
display:
  v: Benign cephalic histiocytosis

code:
  v: 158
display:
  v: Systemic primary carnitine deficiency

code:
  v: 158000
display:
  v: Juvenile xanthogranuloma

code:
  v: 158003
display:
  v: Xanthoma disseminatum

code:
  v: 158008
display:
  v: Papular xanthoma

code:
  v: 158011
display:
  v: Necrobiotic xanthogranuloma

code:
  v: 158014
display:
  v: Rosaï-Dorfman disease

code:
  v: 158019
display:
  v: Indeterminate cell histiocytosis

code:
  v: 158022
display:
  v: Progressive nodular histiocytosis

code:
  v: 158025
display:
  v: Hereditary progressive mucinous histiocytosis

code:
  v: 158048
display:
  v: Hemophagocytic syndrome associated with an infection

code:
  v: 158057
display:
  v: Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

code:
  v: 158061
display:
  v: Macrophage activation syndrome

code:
  v: 1581
display:
  v: Non-distal deletion 10q syndrome

code:
  v: 158668
display:
  v: Ectodermal dysplasia-skin fragility syndrome

code:
  v: 158673
display:
  v: Localized dystrophic epidermolysis bullosa, acral form

code:
  v: 158676
display:
  v: Localized dystrophic epidermolysis bullosa, nails only

code:
  v: 158681
display:
  v: Epidermolysis bullosa simplex with circinate migratory erythema

code:
  v: 158684
display:
  v: Epidermolysis bullosa simplex with pyloric atresia

code:
  v: 158687
display:
  v: Lethal acantholytic erosive disorder

code:
  v: 1587
display:
  v: Monosomy 13q14 syndrome

code:
  v: 158766
display:
  v: Typical urticaria pigmentosa

code:
  v: 158769
display:
  v: Plaque-form urticaria pigmentosa

code:
  v: 158772
display:
  v: Nodular urticaria pigmentosa

code:
  v: 158775
display:
  v: Smoldering systemic mastocytosis

code:
  v: 158778
display:
  v: Isolated bone marrow mastocytosis

code:
  v: 159
display:
  v: Carnitine-acylcarnitine translocase deficiency

code:
  v: 1590
display:
  v: Distal deletion 13q syndrome

code:
  v: 1596
display:
  v: Distal deletion 15q syndrome

code:
  v: 1597
display:
  v: Distal deletion 17q syndrome

code:
  v: 1598
display:
  v: Monosomy 18p syndrome

code:
  v: 16
display:
  v: Blue cone monochromatism

code:
  v: 160
display:
  v: Castleman disease

code:
  v: 1600
display:
  v: Monosomy 18q syndrome

code:
  v: 160148
display:
  v: Cap polyposis

code:
  v: 1606
display:
  v: 1p36 deletion syndrome

code:
  v: 1617
display:
  v: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

code:
  v: 162
display:
  v: Congenital cataract-anterior segment dysgenesis syndrome

code:
  v: 1620
display:
  v: Distal deletion 3p syndrome

code:
  v: 1621
display:
  v: 3q13 microdeletion syndrome

code:
  v: 162516
display:
  v: Isolated congenital nasal pyriform aperture stenosis

code:
  v: 162526
display:
  v: Isolated congenital auditory ossicle malformation

code:
  v: 1627
display:
  v: Deletion 5q35 syndrome

code:
  v: 163
display:
  v: Hereditary hyperferritinemia-cataract syndrome

code:
  v: 163525
display:
  v: Subacute cutaneous lupus erythematosus

code:
  v: 163596
display:
  v: Hb Bart's hydrops fetalis

code:
  v: 1636
display:
  v: Distal monosomy 7q36 syndrome

code:
  v: 163634
display:
  v: Maffucci syndrome

code:
  v: 163649
display:
  v: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

code:
  v: 163654
display:
  v: Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

code:
  v: 163662
display:
  v: Spondyloepiphyseal dysplasia, Reardon type

code:
  v: 163665
display:
  v: Spondyloepiphyseal dysplasia tarda, Kohn type

code:
  v: 163668
display:
  v: Spondyloepiphyseal dysplasia, MacDermot type

code:
  v: 163681
display:
  v: CNTNAP2-related developmental and epileptic encephalopathy

code:
  v: 163684
display:
  v: Leukoencephalopathy-dystonia-motor neuropathy syndrome

code:
  v: 163690
display:
  v: Hypotonia-cystinuria syndrome

code:
  v: 163693
display:
  v: 2p21 microdeletion syndrome

code:
  v: 163696
display:
  v: Action myoclonus-renal failure syndrome

code:
  v: 163699
display:
  v: Alveolar soft tissue sarcoma

code:
  v: 163703
display:
  v: Febrile infection-related epilepsy syndrome

code:
  v: 163708
display:
  v: Cryptogenic late-onset epileptic spasms

code:
  v: 163717
display:
  v: Familial mesial temporal lobe epilepsy

code:
  v: 163721
display:
  v: Rolandic epilepsy-speech dyspraxia syndrome

code:
  v: 163727
display:
  v: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

code:
  v: 163746
display:
  v: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

code:
  v: 163921
display:
  v: Posttransplant acute limbic encephalitis

code:
  v: 163927
display:
  v: Pustulosis palmaris et plantaris

code:
  v: 163931
display:
  v: Acrodermatitis continua of Hallopeau

code:
  v: 163934
display:
  v: Atopic keratoconjunctivitis

code:
  v: 163937
display:
  v: X-linked intellectual disability, Najm type

code:
  v: 163956
display:
  v: X-linked intellectual disability, Nascimento type

code:
  v: 163961
display:
  v: X-linked cerebral-cerebellar-coloboma syndrome

code:
  v: 163966
display:
  v: X-linked dominant chondrodysplasia, Chassaing-Lacombe type

code:
  v: 163971
display:
  v: X-linked intellectual disability, Cilliers type

code:
  v: 163976
display:
  v: X-linked intellectual disability, Van Esch type

code:
  v: 163979
display:
  v: X-linked intellectual disability-craniofacioskeletal syndrome

code:
  v: 163985
display:
  v: Hyperekplexia-epilepsy syndrome

code:
  v: 1642
display:
  v: Distal deletion 9p syndrome

code:
  v: 1643
display:
  v: Xp22.3 microdeletion syndrome

code:
  v: 1646
display:
  v: Chromosome Y microdeletion syndrome

code:
  v: 1647
display:
  v: Oculocerebrocutaneous syndrome

code:
  v: 164726
display:
  v: Acute myeloid leukemia and myelodysplastic syndromes related to radiation

code:
  v: 164736
display:
  v: Familial advanced sleep-phase syndrome

code:
  v: 1652
display:
  v: Dent disease

code:
  v: 1653
display:
  v: Dentin dysplasia

code:
  v: 1655
display:
  v: Müllerian derivatives-lymphangiectasia-polydactyly syndrome

code:
  v: 1656
display:
  v: Dermatitis herpetiformis

code:
  v: 1657
display:
  v: Dermatoosteolysis, Kirghizian type

code:
  v: 1658
display:
  v: Absence of fingerprints-congenital milia syndrome

code:
  v: 1659
display:
  v: Dermatoleukodystrophy

code:
  v: 165955
display:
  v: Wound myiasis

code:
  v: 165958
display:
  v: Cavitary myiasis

code:
  v: 165991
display:
  v: Exercise-induced hyperinsulinism

code:
  v: 1660
display:
  v: Dermoodontodysplasia

code:
  v: 166002
display:
  v: Multiple epiphyseal dysplasia due to collagen 9 anomaly

code:
  v: 166016
display:
  v: Multiple epiphyseal dysplasia, Lowry type

code:
  v: 166024
display:
  v: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

code:
  v: 166029
display:
  v: Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome

code:
  v: 166032
display:
  v: Multiple epiphyseal dysplasia-miniepiphyses syndrome

code:
  v: 166035
display:
  v: Brachydactyly-short stature-retinitis pigmentosa syndrome

code:
  v: 166038
display:
  v: Metaphyseal chondrodysplasia, Kaitila type

code:
  v: 166063
display:
  v: Pontocerebellar hypoplasia type 4

code:
  v: 166073
display:
  v: Pontocerebellar hypoplasia type 6

code:
  v: 166078
display:
  v: Von Willebrand disease type 1

code:
  v: 166081
display:
  v: Von Willebrand disease type 2

code:
  v: 166084
display:
  v: Von Willebrand disease type 2A

code:
  v: 166087
display:
  v: Von Willebrand disease type 2B

code:
  v: 166090
display:
  v: Von Willebrand disease type 2M

code:
  v: 166093
display:
  v: Von Willebrand disease type 2N

code:
  v: 166096
display:
  v: Von Willebrand disease type 3

code:
  v: 1661
display:
  v: X-linked corneal dermoid

code:
  v: 166100
display:
  v: Autosomal dominant otospondylomegaepiphyseal dysplasia

code:
  v: 166105
display:
  v: FASTKD2-related infantile mitochondrial encephalomyopathy

code:
  v: 166108
display:
  v: Birk-Barel syndrome

code:
  v: 166113
display:
  v: Bazex syndrome

code:
  v: 166119
display:
  v: Isolated osteopoikilosis

code:
  v: 1662
display:
  v: Restrictive dermopathy

code:
  v: 166260
display:
  v: Dentinogenesis imperfecta type 2

code:
  v: 166265
display:
  v: Dentinogenesis imperfecta type 3

code:
  v: 166272
display:
  v: Odontochondrodysplasia

code:
  v: 166277
display:
  v: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

code:
  v: 166282
display:
  v: Hereditary sick sinus syndrome

code:
  v: 166286
display:
  v: Porokeratotic eccrine ostial and dermal duct nevus

code:
  v: 166291
display:
  v: Dirofilariasis

code:
  v: 166308
display:
  v: Benign infantile focal epilepsy with midline spikes and waves during sleep

code:
  v: 166409
display:
  v: Photosensitive occipital lobe epilepsy

code:
  v: 166412
display:
  v: Hot water reflex epilepsy

code:
  v: 166415
display:
  v: Audiogenic seizures

code:
  v: 166418
display:
  v: Eating reflex epilepsy

code:
  v: 166421
display:
  v: Orgasm-induced seizures

code:
  v: 166424
display:
  v: Thinking seizures

code:
  v: 166427
display:
  v: Startle epilepsy

code:
  v: 166430
display:
  v: Micturation-induced seizures

code:
  v: 166433
display:
  v: Epilepsy with reading-induced seizures

code:
  v: 1665
display:
  v: Sporadic fetal brain disruption sequence

code:
  v: 1666
display:
  v: Dextrocardia

code:
  v: 1667
display:
  v: Wolcott-Rallison syndrome

code:
  v: 167
display:
  v: Chédiak-Higashi syndrome

code:
  v: 1670
display:
  v: Chronic diarrhea with villous atrophy

code:
  v: 1671
display:
  v: Split cord malformation type I

code:
  v: 1672
display:
  v: Diencephalic syndrome

code:
  v: 1675
display:
  v: Dihydropyrimidine dehydrogenase deficiency

code:
  v: 1676
display:
  v: Idiopathic pulmonary artery dilatation

code:
  v: 167635
display:
  v: Scleromyxedema

code:
  v: 1677
display:
  v: Familial idiopathic dilatation of the right atrium

code:
  v: 1679
display:
  v: Diphtheria

code:
  v: 168
display:
  v: Loose anagen syndrome

code:
  v: 1681
display:
  v: Diprosopus

code:
  v: 1682
display:
  v: Arterial dissection-lentiginosis syndrome

code:
  v: 168443
display:
  v: Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

code:
  v: 168451
display:
  v: Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

code:
  v: 168454
display:
  v: Spondyloepimetaphyseal dysplasia, Geneviève type

code:
  v: 168544
display:
  v: Spondylometaphyseal dysplasia, Golden type

code:
  v: 168549
display:
  v: Axial spondylometaphyseal dysplasia

code:
  v: 168552
display:
  v: Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

code:
  v: 168555
display:
  v: Spondylometaphyseal dysplasia, A4 type

code:
  v: 168558
display:
  v: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

code:
  v: 168563
display:
  v: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

code:
  v: 168566
display:
  v: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

code:
  v: 168569
display:
  v: H syndrome

code:
  v: 168572
display:
  v: Native American myopathy

code:
  v: 168577
display:
  v: Hereditary cryohydrocytosis with reduced stomatin

code:
  v: 168583
display:
  v: Hereditary North American Indian childhood cirrhosis

code:
  v: 168588
display:
  v: Hyperandrogenism due to cortisone reductase deficiency

code:
  v: 168593
display:
  v: Sudden infant death-dysgenesis of the testes syndrome

code:
  v: 168598
display:
  v: Methionine adenosyltransferase I/III deficiency

code:
  v: 1686
display:
  v: Cardiac diverticulum

code:
  v: 168601
display:
  v: Congenital enteropathy due to enteropeptidase deficiency

code:
  v: 168606
display:
  v: Seborrhea-like dermatitis with psoriasiform elements

code:
  v: 168612
display:
  v: Congenital deficiency in alpha-fetoprotein

code:
  v: 168615
display:
  v: Hereditary persistence of alpha-fetoprotein

code:
  v: 168621
display:
  v: Dysplasia of head of femur, Meyer type

code:
  v: 168624
display:
  v: Familial scaphocephaly syndrome, McGillivray type

code:
  v: 168629
display:
  v: Autosomal thrombocytopenia with normal platelets

code:
  v: 168632
display:
  v: Generalized basaloid follicular hamartoma syndrome

code:
  v: 168782
display:
  v: Childhood disintegrative disorder

code:
  v: 168796
display:
  v: Heart-hand syndrome, Slovenian type

code:
  v: 168811
display:
  v: Malignant peritoneal mesothelioma

code:
  v: 168816
display:
  v: Peritoneal inclusion cyst

code:
  v: 168829
display:
  v: Primary peritoneal carcinoma

code:
  v: 168940
display:
  v: Chronic eosinophilic leukemia

code:
  v: 168947
display:
  v: Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

code:
  v: 168950
display:
  v: Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement

code:
  v: 168953
display:
  v: Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

code:
  v: 168960
display:
  v: Refractory anemia with excess blasts in transformation

code:
  v: 168966
display:
  v: Composite lymphoma

code:
  v: 168984
display:
  v: CLAPO syndrome

code:
  v: 168999
display:
  v: Malignant melanoma of the mucosa

code:
  v: 169
display:
  v: Ringed hair disease

code:
  v: 169079
display:
  v: Cernunnos-XLF deficiency

code:
  v: 169082
display:
  v: Combined immunodeficiency due to CD3gamma deficiency

code:
  v: 169085
display:
  v: Susceptibility to respiratory infections associated with CD8alpha chain mutation

code:
  v: 169090
display:
  v: Combined immunodeficiency due to CRAC channel dysfunction

code:
  v: 169095
display:
  v: Severe combined immunodeficiency due to FOXN1 deficiency

code:
  v: 169100
display:
  v: Immunodeficiency due to CD25 deficiency

code:
  v: 169105
display:
  v: Good syndrome

code:
  v: 169110
display:
  v: Immunoglobulin heavy chain deficiency

code:
  v: 169139
display:
  v: Transient hypogammaglobulinemia of infancy

code:
  v: 169142
display:
  v: Recurrent infections due to specific granule deficiency

code:
  v: 169147
display:
  v: Immunodeficiency due to a classical component pathway complement deficiency

code:
  v: 169150
display:
  v: Immunodeficiency due to a late component of complement deficiency

code:
  v: 169154
display:
  v: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

code:
  v: 169157
display:
  v: T-B+ severe combined immunodeficiency due to CD45 deficiency

code:
  v: 169160
display:
  v: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

code:
  v: 169186
display:
  v: Autosomal recessive centronuclear myopathy

code:
  v: 169189
display:
  v: Autosomal dominant centronuclear myopathy

code:
  v: 1692
display:
  v: Mosaic trisomy 1 syndrome

code:
  v: 169464
display:
  v: Primary CD59 deficiency

code:
  v: 169467
display:
  v: Recurrent Neisseria infections due to factor D deficiency

code:
  v: 1695
display:
  v: Non-distal duplication 10q syndrome

code:
  v: 169793
display:
  v: Severe hemophilia B

code:
  v: 169796
display:
  v: Moderate hemophilia B

code:
  v: 169799
display:
  v: Mild hemophilia B

code:
  v: 1698
display:
  v: Mosaic trisomy 12 syndrome

code:
  v: 169802
display:
  v: Severe hemophilia A

code:
  v: 169805
display:
  v: Moderate hemophilia A

code:
  v: 169808
display:
  v: Mild hemophilia A

code:
  v: 1699
display:
  v: Trisomy 12p syndrome

code:
  v: 17
display:
  v: Fatal infantile lactic acidosis with methylmalonic aciduria

code:
  v: 170
display:
  v: Woolly hair

code:
  v: 1702
display:
  v: Non-distal duplication 13q syndrome

code:
  v: 1703
display:
  v: Mosaic trisomy 14 syndrome

code:
  v: 1705
display:
  v: Distal duplication 14q syndrome

code:
  v: 1706
display:
  v: Mosaic trisomy 15 syndrome

code:
  v: 1707
display:
  v: Distal duplication 15q syndrome

code:
  v: 1708
display:
  v: Mosaic trisomy 16 syndrome

code:
  v: 171
display:
  v: Primary sclerosing cholangitis

code:
  v: 1711
display:
  v: Mosaic trisomy 17 syndrome

code:
  v: 171220
display:
  v: Isolated rectal duplication

code:
  v: 1713
display:
  v: 17p11.2 microduplication syndrome

code:
  v: 171430
display:
  v: Severe congenital nemaline myopathy

code:
  v: 171433
display:
  v: Intermediate nemaline myopathy

code:
  v: 171436
display:
  v: Typical nemaline myopathy

code:
  v: 171439
display:
  v: Childhood-onset nemaline myopathy

code:
  v: 171442
display:
  v: Adult-onset nemaline myopathy

code:
  v: 171445
display:
  v: Muscle filaminopathy

code:
  v: 1715
display:
  v: Trisomy 18p syndrome

code:
  v: 1716
display:
  v: Distal duplication 18q syndrome

code:
  v: 171607
display:
  v: X-linked spastic paraplegia type 34

code:
  v: 171612
display:
  v: Autosomal dominant spastic paraplegia type 37

code:
  v: 171617
display:
  v: Autosomal dominant spastic paraplegia type 38

code:
  v: 171622
display:
  v: Autosomal recessive spastic paraplegia type 32

code:
  v: 171629
display:
  v: Autosomal recessive spastic paraplegia type 35

code:
  v: 171673
display:
  v: Limbal stem cell deficiency

code:
  v: 171680
display:
  v: Lissencephaly due to TUBA1A mutation

code:
  v: 171684
display:
  v: Idiopathic bilateral vestibulopathy

code:
  v: 171690
display:
  v: Metabolic myopathy due to lactate transporter defect

code:
  v: 171695
display:
  v: Parkinsonian-pyramidal syndrome

code:
  v: 1717
display:
  v: Distal duplication 19q syndrome

code:
  v: 171700
display:
  v: Diffuse panbronchiolitis

code:
  v: 171703
display:
  v: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

code:
  v: 171706
display:
  v: Short stature-delayed bone age due to thyroid hormone metabolism deficiency

code:
  v: 171709
display:
  v: Male infertility due to globozoospermia

code:
  v: 171719
display:
  v: Cutis laxa-Marfanoid syndrome

code:
  v: 171723
display:
  v: White sponge nevus

code:
  v: 171829
display:
  v: 6q16 microdeletion syndrome

code:
  v: 171839
display:
  v: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

code:
  v: 171844
display:
  v: Blindness-scoliosis-arachnodactyly syndrome

code:
  v: 171848
display:
  v: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

code:
  v: 171851
display:
  v: MEDNIK syndrome

code:
  v: 171863
display:
  v: Autosomal dominant spastic paraplegia type 42

code:
  v: 171866
display:
  v: Spondyloepimetaphyseal dysplasia, aggrecan type

code:
  v: 171871
display:
  v: Renal pseudohypoaldosteronism type 1

code:
  v: 171876
display:
  v: Generalized pseudohypoaldosteronism type 1

code:
  v: 171881
display:
  v: Cap myopathy

code:
  v: 171886
display:
  v: Cylindrical spirals myopathy

code:
  v: 171889
display:
  v: Myopathy with hexagonally cross-linked tubular arrays

code:
  v: 171929
display:
  v: Trisomy 10p syndrome

code:
  v: 172
display:
  v: Progressive familial intrahepatic cholestasis

code:
  v: 1723
display:
  v: Mosaic trisomy 2 syndrome

code:
  v: 1724
display:
  v: Mosaic trisomy 20 syndrome

code:
  v: 1727
display:
  v: 22q11.2 duplication syndrome

code:
  v: 173
display:
  v: Cholera

code:
  v: 1738
display:
  v: Trisomy 4p syndrome

code:
  v: 174
display:
  v: Metaphyseal chondrodysplasia, Schmid type

code:
  v: 1742
display:
  v: Trisomy 5p syndrome

code:
  v: 1745
display:
  v: Distal duplication 6p syndrome

code:
  v: 1747
display:
  v: Mosaic trisomy 7 syndrome

code:
  v: 175
display:
  v: Cartilage-hair hypoplasia

code:
  v: 1752
display:
  v: Trisomy 8q syndrome

code:
  v: 1756
display:
  v: Caudal duplication

code:
  v: 1757
display:
  v: Fibular dimelia-diplopodia syndrome

code:
  v: 1759
display:
  v: Thoraco-abdominal enteric duplication

code:
  v: 1762
display:
  v: Proximal Xq28 duplication syndrome

code:
  v: 1764
display:
  v: Familial dysautonomia

code:
  v: 1766
display:
  v: Dysequilibrium syndrome

code:
  v: 1768
display:
  v: Familial caudal dysgenesis

code:
  v: 177
display:
  v: Rhizomelic chondrodysplasia punctata

code:
  v: 1770
display:
  v: XY type gonadal dysgenesis-associated anomalies syndrome

code:
  v: 1772
display:
  v: 45,X/46,XY mixed gonadal dysgenesis

code:
  v: 1775
display:
  v: Dyskeratosis congenita

code:
  v: 1777
display:
  v: Temtamy syndrome

code:
  v: 1778
display:
  v: Facial dysmorphism-shawl scrotum-joint laxity syndrome

code:
  v: 1779
display:
  v: Dysmorphism-cleft palate-loose skin syndrome

code:
  v: 177901
display:
  v: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

code:
  v: 177904
display:
  v: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

code:
  v: 177907
display:
  v: Prader-Willi syndrome due to translocation

code:
  v: 177910
display:
  v: Prader-Willi syndrome due to imprinting mutation

code:
  v: 177926
display:
  v: Bleeding disorder in hemophilia A carriers

code:
  v: 177929
display:
  v: Bleeding disorder in hemophilia B carriers

code:
  v: 178
display:
  v: Chordoma

code:
  v: 1780
display:
  v: Thakker-Donnai syndrome

code:
  v: 178029
display:
  v: Arginine vasopressin deficiency

code:
  v: 178145
display:
  v: Moderate multiminicore disease with hand involvement

code:
  v: 178148
display:
  v: Antenatal multiminicore disease with arthrogryposis multiplex congenita

code:
  v: 1782
display:
  v: Dysosteosclerosis

code:
  v: 178303
display:
  v: 8q22.1 microdeletion syndrome

code:
  v: 178307
display:
  v: Reticulate acropigmentation of Kitamura

code:
  v: 178311
display:
  v: Isolated sternocostoclavicular hyperostosis

code:
  v: 178315
display:
  v: Undifferentiated embryonal sarcoma of the liver

code:
  v: 178320
display:
  v: Acute lung injury

code:
  v: 178333
display:
  v: Åland Islands eye disease

code:
  v: 178338
display:
  v: UV-sensitive syndrome

code:
  v: 178342
display:
  v: Inflammatory myofibroblastic tumor

code:
  v: 178345
display:
  v: Aromatase excess syndrome

code:
  v: 178355
display:
  v: Smith-McCort dysplasia

code:
  v: 178364
display:
  v: Syndromic microphthalmia type 5

code:
  v: 178377
display:
  v: Osteosclerosis-developmental delay-craniosynostosis syndrome

code:
  v: 178382
display:
  v: Congenital vertical talus

code:
  v: 178389
display:
  v: Osteopetrosis-hypogammaglobulinemia syndrome

code:
  v: 178396
display:
  v: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

code:
  v: 1784
display:
  v: Acrofrontofacionasal dysostosis

code:
  v: 178400
display:
  v: Distal myopathy with anterior tibial onset

code:
  v: 178461
display:
  v: X-linked myopathy with postural muscle atrophy

code:
  v: 178464
display:
  v: Hereditary myopathy with early respiratory failure

code:
  v: 178469
display:
  v: Autosomal dominant non-syndromic intellectual disability

code:
  v: 178475
display:
  v: Wound botulism

code:
  v: 178478
display:
  v: Infant botulism

code:
  v: 178481
display:
  v: Intestinal botulism

code:
  v: 178487
display:
  v: Adult intestinal botulism

code:
  v: 178506
display:
  v: Brain calcification, Rajab type

code:
  v: 178509
display:
  v: Perry syndrome

code:
  v: 178512
display:
  v: Folliculotropic mycosis fungoides

code:
  v: 178517
display:
  v: Localized pagetoid reticulosis

code:
  v: 178522
display:
  v: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

code:
  v: 178528
display:
  v: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma

code:
  v: 178533
display:
  v: Primary cutaneous gamma/delta-positive T-cell lymphoma

code:
  v: 178536
display:
  v: Primary cutaneous marginal zone B-cell lymphoma

code:
  v: 178540
display:
  v: Primary cutaneous follicle center lymphoma

code:
  v: 178544
display:
  v: Primary cutaneous diffuse large B-cell lymphoma, leg type

code:
  v: 1786
display:
  v: Acrofacial dysostosis, Catania type

code:
  v: 1787
display:
  v: Acrofacial dysostosis, Palagonia type

code:
  v: 1788
display:
  v: Acrofacial dysostosis, Rodríguez type

code:
  v: 179
display:
  v: Birdshot chorioretinopathy

code:
  v: 1790
display:
  v: Hypomandibular faciocranial dysostosis

code:
  v: 1791
display:
  v: Frontofacionasal dysplasia

code:
  v: 1794
display:
  v: Oculomaxillofacial dysostosis

code:
  v: 179490
display:
  v: Obesity due to congenital leptin resistance

code:
  v: 179494
display:
  v: Obesity due to leptin receptor gene deficiency

code:
  v: 1797
display:
  v: Autosomal dominant spondylocostal dysostosis

code:
  v: 1798
display:
  v: Craniofacial dysostosis-diaphyseal hyperplasia syndrome

code:
  v: 1799
display:
  v: Familial developmental dysphasia

code:
  v: 18
display:
  v: Distal renal tubular acidosis

code:
  v: 180
display:
  v: Choroideremia

code:
  v: 180074
display:
  v: True unicornuate uterus

code:
  v: 180079
display:
  v: Pseudounicornuate uterus

code:
  v: 180086
display:
  v: Didelphys uterus

code:
  v: 1801
display:
  v: Kyphomelic dysplasia

code:
  v: 180106
display:
  v: Bicervical bicornuate uterus and blind hemivagina

code:
  v: 180111
display:
  v: Bicervical bicornuate uterus with patent cervix and vagina

code:
  v: 180114
display:
  v: Unicervical bicornuate uterus

code:
  v: 180126
display:
  v: Complete septate uterus

code:
  v: 180129
display:
  v: Partial septate uterus

code:
  v: 180139
display:
  v: Uterine hypoplasia

code:
  v: 180142
display:
  v: Absence of uterine body

code:
  v: 180145
display:
  v: Uterine cervical aplasia and agenesis

code:
  v: 180154
display:
  v: Septate vagina

code:
  v: 180157
display:
  v: Longitudinal vaginal septum

code:
  v: 180160
display:
  v: Transverse vaginal septum

code:
  v: 180176
display:
  v: Familial juvenile hypertrophy of the breast

code:
  v: 180182
display:
  v: Supernumerary breasts

code:
  v: 180188
display:
  v: Isolated congenital breast hypoplasia/aplasia

code:
  v: 1802
display:
  v: Ghosal hematodiaphyseal dysplasia

code:
  v: 180226
display:
  v: Embryonal carcinoma

code:
  v: 180229
display:
  v: Polyembryoma

code:
  v: 180234
display:
  v: Mixed germ cell tumor

code:
  v: 180237
display:
  v: Benign tumor of fallopian tubes

code:
  v: 180242
display:
  v: Malignant tumor of fallopian tubes

code:
  v: 180247
display:
  v: Vaginal carcinoma

code:
  v: 180261
display:
  v: Phyllodes tumor of the breast

code:
  v: 180267
display:
  v: Giant adenofibroma of the breast

code:
  v: 180275
display:
  v: Paget disease of the nipple

code:
  v: 1803
display:
  v: Thoracomelic dysplasia

code:
  v: 1806
display:
  v: Ectodermal dysplasia-blindness syndrome

code:
  v: 1807
display:
  v: Focal facial dermal dysplasia type III

code:
  v: 1808
display:
  v: Hidrotic ectodermal dysplasia, Christianson-Fourie type

code:
  v: 1809
display:
  v: Hidrotic ectodermal dysplasia, Halal type

code:
  v: 181
display:
  v: X-linked hypohidrotic ectodermal dysplasia

code:
  v: 1810
display:
  v: Autosomal dominant hypohidrotic ectodermal dysplasia

code:
  v: 1811
display:
  v: Odontomicronychial dysplasia

code:
  v: 1812
display:
  v: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

code:
  v: 181428
display:
  v: Familial Hyperalphalipoproteinemia

code:
  v: 1816
display:
  v: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

code:
  v: 1818
display:
  v: Ectodermal dysplasia, trichoodontoonychial type

code:
  v: 182
display:
  v: Chromomycosis

code:
  v: 182050
display:
  v: MYH9-related syndromic thrombocytopenia

code:
  v: 182127
display:
  v: Extragonadal germinoma

code:
  v: 1822
display:
  v: Dysplasia epiphysealis hemimelica

code:
  v: 1824
display:
  v: Lowry-Wood syndrome

code:
  v: 1825
display:
  v: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

code:
  v: 1826
display:
  v: Frontometaphyseal dysplasia

code:
  v: 1827
display:
  v: Acromelic frontonasal dysplasia

code:
  v: 183
display:
  v: Eosinophilic granulomatosis with polyangiitis

code:
  v: 1830
display:
  v: Schimke immuno-osseous dysplasia

code:
  v: 1832
display:
  v: Osteosclerotic bone dysplasia

code:
  v: 1834
display:
  v: Axial mesodermal dysplasia spectrum

code:
  v: 1836
display:
  v: Mesomelic dysplasia, Kantaputra type

code:
  v: 183663
display:
  v: Hyper-IgM syndrome with susceptibility to opportunistic infections

code:
  v: 183666
display:
  v: Hyper-IgM syndrome without susceptibility to opportunistic infections

code:
  v: 183675
display:
  v: Recurrent infections associated with rare immunoglobulin isotypes deficiency

code:
  v: 183678
display:
  v: Hermansky-Pudlak syndrome due to AP-3 deficiency

code:
  v: 1837
display:
  v: Metaphyseal chondrodysplasia, Rosenberg type

code:
  v: 183707
display:
  v: Infantile LAD-like disease due to RAC2 deficiency

code:
  v: 1839
display:
  v: Hereditary mucoepithelial dysplasia

code:
  v: 184
display:
  v: Cherubism

code:
  v: 1842
display:
  v: Bone dysplasia, lethal Holmgren type

code:
  v: 1848
display:
  v: Renal agenesis, bilateral

code:
  v: 185
display:
  v: Scimitar syndrome

code:
  v: 1851
display:
  v: Multicystic dysplastic kidney

code:
  v: 1852
display:
  v: X-linked retinal dysplasia

code:
  v: 1855
display:
  v: Spondyloenchondrodysplasia

code:
  v: 1856
display:
  v: Spondyloperipheral dysplasia-short ulna syndrome

code:
  v: 1858
display:
  v: Skeletal dysplasia-epilepsy-short stature syndrome

code:
  v: 186
display:
  v: Primary biliary cholangitis

code:
  v: 1860
display:
  v: Thanatophoric dysplasia type 1

code:
  v: 1861
display:
  v: Thoracic dysplasia-hydrocephalus syndrome

code:
  v: 1865
display:
  v: Dyssegmental dysplasia, Silverman-Handmaker type

code:
  v: 1867
display:
  v: Hereditary bullous dystrophy, macular type

code:
  v: 1871
display:
  v: Progressive cone dystrophy

code:
  v: 1872
display:
  v: Cone rod dystrophy

code:
  v: 1873
display:
  v: Jalili syndrome

code:
  v: 1875
display:
  v: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

code:
  v: 1876
display:
  v: Oculogastrointestinal muscular dystrophy

code:
  v: 1878
display:
  v: TRIM32-related limb-girdle muscular dystrophy R8

code:
  v: 1879
display:
  v: Melorheostosis with osteopoikilosis

code:
  v: 188
display:
  v: Systemic capillary leak syndrome

code:
  v: 1880
display:
  v: Ebstein malformation of the tricuspid valve

code:
  v: 1882
display:
  v: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

code:
  v: 1883
display:
  v: Ectodermal dysplasia-sensorineural deafness syndrome

code:
  v: 1884
display:
  v: Ectopia lentis-chorioretinal dystrophy-myopia syndrome

code:
  v: 1885
display:
  v: Isolated ectopia lentis

code:
  v: 189
display:
  v: Hidrotic ectodermal dysplasia

code:
  v: 1891
display:
  v: Intellectual disability-spasticity-ectrodactyly syndrome

code:
  v: 1892
display:
  v: Ectrodactyly-polydactyly syndrome

code:
  v: 189427
display:
  v: Cushing syndrome due to bilateral macronodular adrenocortical disease

code:
  v: 189466
display:
  v: Familial isolated hypoparathyroidism due to impaired PTH secretion

code:
  v: 1895
display:
  v: Edinburgh malformation syndrome

code:
  v: 1896
display:
  v: EEC syndrome

code:
  v: 1897
display:
  v: EEM syndrome

code:
  v: 1899
display:
  v: Arthrochalasia Ehlers-Danlos syndrome

code:
  v: 190
display:
  v: Coats disease

code:
  v: 1900
display:
  v: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

code:
  v: 1901
display:
  v: Dermatosparaxis Ehlers-Danlos syndrome

code:
  v: 1902
display:
  v: Ehrlichiosis

code:
  v: 1906
display:
  v: Fetal valproate spectrum disorder

code:
  v: 1908
display:
  v: Aminopterin/methotrexate embryofetopathy

code:
  v: 1909
display:
  v: Indomethacin embryofetopathy

code:
  v: 191
display:
  v: Cockayne syndrome

code:
  v: 1910
display:
  v: Fetal iodine syndrome

code:
  v: 1911
display:
  v: Cocaine embryofetopathy

code:
  v: 1912
display:
  v: Fetal hydantoin syndrome

code:
  v: 1913
display:
  v: Fetal trimethadione syndrome

code:
  v: 1914
display:
  v: Vitamin K antagonist embryofetopathy

code:
  v: 1915
display:
  v: Fetal alcohol syndrome

code:
  v: 1916
display:
  v: Diethylstilbestrol syndrome

code:
  v: 1917
display:
  v: Fetal methylmercury syndrome

code:
  v: 1918
display:
  v: Fetal minoxidil syndrome

code:
  v: 1919
display:
  v: Phenobarbital embryopathy

code:
  v: 192
display:
  v: Coffin-Lowry syndrome

code:
  v: 1920
display:
  v: Toluene embryopathy

code:
  v: 1923
display:
  v: Methimazole embryofetopathy

code:
  v: 1926
display:
  v: Diabetic embryopathy

code:
  v: 1927
display:
  v: Emery-Nelson syndrome

code:
  v: 1928
display:
  v: Congenital lobar emphysema

code:
  v: 1929
display:
  v: Rasmussen subacute encephalitis

code:
  v: 193
display:
  v: Cohen syndrome

code:
  v: 1930
display:
  v: Herpes simplex virus encephalitis

code:
  v: 1931
display:
  v: Frontal encephalocele

code:
  v: 1933
display:
  v: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

code:
  v: 1934
display:
  v: Early infantile developmental and epileptic encephalopathy

code:
  v: 1937
display:
  v: Eng-Strom syndrome

code:
  v: 1941
display:
  v: Juvenile absence epilepsy

code:
  v: 1942
display:
  v: Epilepsy with myoclonic-atonic seizures

code:
  v: 1943
display:
  v: Early-onset progressive encephalopathy with migrant continuous myoclonus

code:
  v: 1945
display:
  v: Self-limited epilepsy with centrotemporal spikes

code:
  v: 1946
display:
  v: Amelocerebrohypohidrotic syndrome

code:
  v: 1947
display:
  v: Northern epilepsy

code:
  v: 1948
display:
  v: Epilepsy-microcephaly-skeletal dysplasia syndrome

code:
  v: 1949
display:
  v: Self-limited neonatal epilepsy

code:
  v: 195
display:
  v: Cat-eye syndrome

code:
  v: 1951
display:
  v: Epilepsy-telangiectasia syndrome

code:
  v: 1952
display:
  v: Epiphyseal stippling-osteoclastic hyperplasia syndrome

code:
  v: 1954
display:
  v: Congenital lethal erythroderma

code:
  v: 1955
display:
  v: Spinocerebellar ataxia type 34

code:
  v: 1957
display:
  v: Esthesioneuroblastoma

code:
  v: 1959
display:
  v: Evans syndrome

code:
  v: 1962
display:
  v: Exostoses-anetodermia-brachydactyly type E syndrome

code:
  v: 1964
display:
  v: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

code:
  v: 1968
display:
  v: Flat face-microstomia-ear anomaly syndrome

code:
  v: 1969
display:
  v: Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

code:
  v: 1970
display:
  v: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

code:
  v: 1972
display:
  v: Lethal faciocardiomelic dysplasia

code:
  v: 1973
display:
  v: Faciocardiorenal syndrome

code:
  v: 1974
display:
  v: Autosomal recessive faciodigitogenital syndrome

code:
  v: 1979
display:
  v: Lipodystrophy due to peptidic growth factors deficiency

code:
  v: 198
display:
  v: Occipital horn syndrome

code:
  v: 1980
display:
  v: Bilateral striopallidodentate calcinosis

code:
  v: 1986
display:
  v: Gollop-Wolfgang complex

code:
  v: 1987
display:
  v: Isolated femoral agenesis/hypoplasia

code:
  v: 1988
display:
  v: Femoral-facial syndrome

code:
  v: 199
display:
  v: Cornelia de Lange syndrome

code:
  v: 199241
display:
  v: Pulmonary capillary hemangiomatosis

code:
  v: 199244
display:
  v: Nelson syndrome

code:
  v: 199247
display:
  v: Corticosteroid-binding globulin deficiency

code:
  v: 199251
display:
  v: Ledderhose disease

code:
  v: 199260
display:
  v: Calcifying aponeurotic fibroma

code:
  v: 199267
display:
  v: Infantile digital fibromatosis

code:
  v: 199276
display:
  v: Familial multiple lipomatosis

code:
  v: 199279
display:
  v: Familial angiolipomatosis

code:
  v: 199282
display:
  v: Harlequin syndrome

code:
  v: 199285
display:
  v: Hereditary hypercarotenemia and vitamin A deficiency

code:
  v: 199293
display:
  v: Congenital microgastria

code:
  v: 199296
display:
  v: Congenital isolated ACTH deficiency

code:
  v: 199299
display:
  v: Late-onset isolated ACTH deficiency

code:
  v: 1993
display:
  v: Pai syndrome

code:
  v: 199302
display:
  v: Isolated cleft lip

code:
  v: 199306
display:
  v: Cleft lip/palate

code:
  v: 199310
display:
  v: Tetragametic chimerism syndrome

code:
  v: 199315
display:
  v: Familial clubfoot with or without associated lower limb anomalies

code:
  v: 199318
display:
  v: 15q13.3 microdeletion syndrome

code:
  v: 199323
display:
  v: Endophthalmitis

code:
  v: 199326
display:
  v: Isolated autosomal dominant hypomagnesemia, Glaudemans type

code:
  v: 199329
display:
  v: Congenital myopathy, Paradas type

code:
  v: 199332
display:
  v: Endocrine-cerebro-osteodysplasia syndrome

code:
  v: 199337
display:
  v: Pancreatic insufficiency-anemia-hyperostosis syndrome

code:
  v: 199340
display:
  v: Muscular dystrophy, Selcen type

code:
  v: 199343
display:
  v: EAST syndrome

code:
  v: 199348
display:
  v: Thiamine-responsive encephalopathy

code:
  v: 199351
display:
  v: Adult-onset dystonia-parkinsonism

code:
  v: 199354
display:
  v: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

code:
  v: 1995
display:
  v: Cleft lip-retinopathy syndrome

code:
  v: 199627
display:
  v: Atypical autism

code:
  v: 199630
display:
  v: Isolated cerebellar vermis hypoplasia

code:
  v: 199642
display:
  v: Isolated congenital microcephaly

code:
  v: 199647
display:
  v: Isolated encephalocele

code:
  v: 1997
display:
  v: Blepharo-cheilo-odontic syndrome

code:
  v: 20
display:
  v: 3-hydroxy-3-methylglutaric aciduria

code:
  v: 200
display:
  v: Isolated corpus callosum agenesis

code:
  v: 2001
display:
  v: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

code:
  v: 2003
display:
  v: Cleft lip/palate-deafness-sacral lipoma syndrome

code:
  v: 2004
display:
  v: Laryngotracheoesophageal cleft

code:
  v: 200418
display:
  v: Immunodeficiency with factor I anomaly

code:
  v: 200421
display:
  v: Immunodeficiency with factor H anomaly

code:
  v: 2006
display:
  v: Median cleft lip/mandible

code:
  v: 2007
display:
  v: Alar cartilages hypoplasia-coloboma-telecanthus syndrome

code:
  v: 2008
display:
  v: Acrocardiofacial syndrome

code:
  v: 201
display:
  v: Cowden syndrome

code:
  v: 2010
display:
  v: Cleft palate-stapes fixation-oligodontia syndrome

code:
  v: 2013
display:
  v: Cleft palate-large ears-small head syndrome

code:
  v: 2015
display:
  v: Cleft palate-short stature-vertebral anomalies syndrome

code:
  v: 2016
display:
  v: Cleft palate-lateral synechia syndrome

code:
  v: 2017
display:
  v: Sternal cleft

code:
  v: 2019
display:
  v: Femur-fibula-ulna complex

code:
  v: 2020
display:
  v: Congenital fiber-type disproportion myopathy

code:
  v: 2021
display:
  v: Fibrochondrogenesis

code:
  v: 2022
display:
  v: Endocardial fibroelastosis

code:
  v: 2023
display:
  v: Undifferentiated pleomorphic sarcoma

code:
  v: 2024
display:
  v: Hereditary gingival fibromatosis

code:
  v: 2025
display:
  v: Gingival fibromatosis-facial dysmorphism syndrome

code:
  v: 2026
display:
  v: Gingival fibromatosis-hypertrichosis syndrome

code:
  v: 2027
display:
  v: Gingival fibromatosis-progressive deafness syndrome

code:
  v: 2028
display:
  v: Juvenile hyaline fibromatosis

code:
  v: 2030
display:
  v: Fibrosarcoma

code:
  v: 2031
display:
  v: Hepatic fibrosis-renal cysts-intellectual disability syndrome

code:
  v: 2032
display:
  v: Idiopathic pulmonary fibrosis

code:
  v: 2035
display:
  v: Lymphatic filariasis

code:
  v: 2036
display:
  v: Scalp-ear-nipple syndrome

code:
  v: 2037
display:
  v: Congenital aortopulmonary window

code:
  v: 2038
display:
  v: Pulmonary arteriovenous malformation

code:
  v: 2039
display:
  v: Congenital systemic arteriovenous fistula

code:
  v: 204
display:
  v: Sporadic Creutzfeldt-Jakob disease

code:
  v: 2040
display:
  v: Congenital respiratory-biliary fistula

code:
  v: 2041
display:
  v: Coronary arterial fistula

code:
  v: 2044
display:
  v: Floating-Harbor syndrome

code:
  v: 2045
display:
  v: FLOTCH syndrome

code:
  v: 2047
display:
  v: Flynn-Aird syndrome

code:
  v: 2048
display:
  v: Foix-Chavany-Marie syndrome

code:
  v: 205
display:
  v: Crigler-Najjar syndrome

code:
  v: 2050
display:
  v: Cole-Carpenter syndrome

code:
  v: 2052
display:
  v: Fraser syndrome

code:
  v: 2053
display:
  v: Freeman-Sheldon syndrome

code:
  v: 2056
display:
  v: Essential fructosuria

code:
  v: 2057
display:
  v: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

code:
  v: 2058
display:
  v: Fryns-Smeets-Thiry syndrome

code:
  v: 2059
display:
  v: Fryns syndrome

code:
  v: 2062
display:
  v: Progressive non-infectious anterior vertebral fusion

code:
  v: 2063
display:
  v: Splenogonadal fusion-limb defects-micrognathia syndrome

code:
  v: 2064
display:
  v: Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

code:
  v: 206436
display:
  v: Infantile Krabbe disease

code:
  v: 206443
display:
  v: Late-infantile/juvenile Krabbe disease

code:
  v: 206448
display:
  v: Adult Krabbe disease

code:
  v: 206470
display:
  v: Cystadenoma of childhood

code:
  v: 206484
display:
  v: Gonadoblastoma

code:
  v: 206489
display:
  v: Malignant germ cell tumor of the vagina

code:
  v: 206492
display:
  v: Vulvovaginal rhabdomyosarcoma

code:
  v: 2065
display:
  v: Galloway-Mowat syndrome

code:
  v: 206538
display:
  v: Malignant non-dysgerminomatous germ cell tumor of ovary

code:
  v: 206546
display:
  v: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

code:
  v: 206549
display:
  v: Anoctamin-5-related limb-girdle muscular dystrophy R12

code:
  v: 206554
display:
  v: Fukutin-related limb-girdle muscular dystrophy R13

code:
  v: 206559
display:
  v: POMT2-related limb-girdle muscular dystrophy R14

code:
  v: 206564
display:
  v: POMGNT1-related limb-girdle muscular dystrophy R15

code:
  v: 206569
display:
  v: Immune-mediated necrotizing myopathy

code:
  v: 206572
display:
  v: Overlap myositis

code:
  v: 206575
display:
  v: Rippling muscle disease with myasthenia gravis

code:
  v: 206580
display:
  v: Autosomal recessive lower motor neuron disease with childhood onset

code:
  v: 206583
display:
  v: Adult polyglucosan body disease

code:
  v: 206586
display:
  v: Neurolymphomatosis

code:
  v: 206594
display:
  v: Subacute inflammatory demyelinating polyneuropathy

code:
  v: 206599
display:
  v: Isolated asymptomatic elevation of creatine phosphokinase

code:
  v: 2066
display:
  v: Gamma-aminobutyric acid transaminase deficiency

code:
  v: 2067
display:
  v: GAPO syndrome

code:
  v: 2069
display:
  v: Gastrocutaneous syndrome

code:
  v: 206991
display:
  v: Viral myositis

code:
  v: 206994
display:
  v: Bacterial myositis

code:
  v: 207
display:
  v: Crouzon syndrome

code:
  v: 2070
display:
  v: Eosinophilic gastroenteritis

code:
  v: 207000
display:
  v: Fungal myositis

code:
  v: 2072
display:
  v: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

code:
  v: 2073
display:
  v: Narcolepsy type 1

code:
  v: 2074
display:
  v: Gemignani syndrome

code:
  v: 2075
display:
  v: Genitopalatocardiac syndrome

code:
  v: 2077
display:
  v: German syndrome

code:
  v: 2078
display:
  v: Geroderma osteodysplastica

code:
  v: 2083
display:
  v: Prominent glabella-microcephaly-hypogenitalism syndrome

code:
  v: 2084
display:
  v: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

code:
  v: 208441
display:
  v: Bilateral parasagittal parieto-occipital polymicrogyria

code:
  v: 208444
display:
  v: Bilateral frontal polymicrogyria

code:
  v: 208447
display:
  v: Bilateral generalized polymicrogyria

code:
  v: 2085
display:
  v: Glaucoma-sleep apnea syndrome

code:
  v: 208513
display:
  v: Spinocerebellar ataxia type 29

code:
  v: 208524
display:
  v: Herpetiform pemphigus

code:
  v: 2086
display:
  v: Optic pathway glioma

code:
  v: 2088
display:
  v: Fanconi-Bickel syndrome

code:
  v: 2089
display:
  v: Glycogen storage disease due to hepatic glycogen synthase deficiency

code:
  v: 208989
display:
  v: Non-paraneoplastic sensory ganglionopathy

code:
  v: 208999
display:
  v: Paraneoplastic sensory ganglionopathy

code:
  v: 2090
display:
  v: GMS syndrome

code:
  v: 209004
display:
  v: Polyneuropathy associated with IgM monoclonal gammopathy

code:
  v: 2091
display:
  v: Multinodular goiter-cystic kidney-polydactyly syndrome

code:
  v: 2092
display:
  v: Focal dermal hypoplasia

code:
  v: 209335
display:
  v: Autosomal dominant adult-onset proximal spinal muscular atrophy

code:
  v: 209341
display:
  v: DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

code:
  v: 209370
display:
  v: MECP2-related severe neonatal encephalopathy

code:
  v: 2095
display:
  v: Gorlin-Chaudhry-Moss syndrome

code:
  v: 2097
display:
  v: Grant syndrome

code:
  v: 2098
display:
  v: Acromesomelic dysplasia, Grebe type

code:
  v: 209867
display:
  v: Autosomal dominant rhegmatogenous retinal detachment

code:
  v: 209902
display:
  v: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

code:
  v: 209905
display:
  v: Brain-lung-thyroid syndrome

code:
  v: 209908
display:
  v: Isolated childhood apraxia of speech

code:
  v: 209916
display:
  v: Extraskeletal myxoid chondrosarcoma

code:
  v: 209919
display:
  v: Idiopathic copper-associated cirrhosis

code:
  v: 209932
display:
  v: Cone dystrophy with supernormal rod response

code:
  v: 209943
display:
  v: IRVAN syndrome

code:
  v: 209951
display:
  v: Autosomal spastic paraplegia type 18

code:
  v: 209956
display:
  v: Idiopathic uveal effusion syndrome

code:
  v: 209959
display:
  v: Phacoanaphylactic uveitis

code:
  v: 209964
display:
  v: Solitary rectal ulcer syndrome

code:
  v: 209967
display:
  v: Episodic ataxia type 6

code:
  v: 209970
display:
  v: Episodic ataxia type 7

code:
  v: 209973
display:
  v: Benign nocturnal alternating hemiplegia of childhood

code:
  v: 209981
display:
  v: IRIDA syndrome

code:
  v: 210
display:
  v: Cyclosporiasis

code:
  v: 2101
display:
  v: Grubben-de Cock-Borghgraef syndrome

code:
  v: 210110
display:
  v: Intermediate osteopetrosis

code:
  v: 210115
display:
  v: Sterile multifocal osteomyelitis with periostitis and pustulosis

code:
  v: 210122
display:
  v: Congenital alveolar capillary dysplasia

code:
  v: 210128
display:
  v: Urocanic aciduria

code:
  v: 210133
display:
  v: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

code:
  v: 210136
display:
  v: Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

code:
  v: 210141
display:
  v: Inherited congenital spastic tetraplegia

code:
  v: 210144
display:
  v: Lethal polymalformative syndrome, Boissel type

code:
  v: 210159
display:
  v: Adult hepatocellular carcinoma

code:
  v: 210163
display:
  v: Congenital lethal myopathy, Compton-North type

code:
  v: 2102
display:
  v: GTP cyclohydrolase I deficiency

code:
  v: 210272
display:
  v: Mal de débarquement

code:
  v: 2104
display:
  v: Dysmorphism-pectus carinatum-joint laxity syndrome

code:
  v: 210548
display:
  v: Macrocephaly-intellectual disability-autism syndrome

code:
  v: 210571
display:
  v: Dystonia 16

code:
  v: 210576
display:
  v: Congenital temporomandibular joint ankylosis

code:
  v: 210584
display:
  v: Spindle cell hemangioma

code:
  v: 2107
display:
  v: Hall-Riggs syndrome

code:
  v: 2108
display:
  v: Hallermann-Streiff syndrome

code:
  v: 2109
display:
  v: Hallermann-Streiff-like syndrome

code:
  v: 211
display:
  v: Familial cylindromatosis

code:
  v: 2110
display:
  v: Hallux varus-preaxial polysyndactyly syndrome

code:
  v: 211017
display:
  v: Spinocerebellar ataxia type 30

code:
  v: 211067
display:
  v: Episodic ataxia type 5

code:
  v: 2111
display:
  v: Cystic hamartoma of lung and kidney

code:
  v: 2114
display:
  v: Hip dysplasia, Beukes type

code:
  v: 2115
display:
  v: Harrod syndrome

code:
  v: 2116
display:
  v: Hartnup disease

code:
  v: 2117
display:
  v: Hartsfield syndrome

code:
  v: 2118
display:
  v: Hawkinsinuria

code:
  v: 2119
display:
  v: HEC syndrome

code:
  v: 212
display:
  v: Cystathioninuria

code:
  v: 2122
display:
  v: Kaposiform hemangioendothelioma

code:
  v: 2123
display:
  v: Multifocal infantile hemangioma with extracutenous involvement

code:
  v: 2126
display:
  v: Solitary fibrous tumor

code:
  v: 2128
display:
  v: Isolated hemihyperplasia

code:
  v: 213
display:
  v: Cystinosis

code:
  v: 2131
display:
  v: Alternating hemiplegia of childhood

code:
  v: 2132
display:
  v: Hemoglobin C disease

code:
  v: 2133
display:
  v: Hemoglobin E disease

code:
  v: 2134
display:
  v: Atypical hemolytic uremic syndrome

code:
  v: 2135
display:
  v: Cutaneous mastocytosis-deafness-microtia syndrome

code:
  v: 213504
display:
  v: Adenocarcinoma of ovary

code:
  v: 213512
display:
  v: Malignant mixed Müllerian tumor of the ovary

code:
  v: 213528
display:
  v: Rare adenocarcinoma of the breast

code:
  v: 213531
display:
  v: Metaplastic carcinoma of the breast

code:
  v: 213557
display:
  v: Salivary gland type cancer of the breast

code:
  v: 2136
display:
  v: Hennekam syndrome

code:
  v: 213600
display:
  v: Adenosarcoma of the corpus uteri

code:
  v: 213605
display:
  v: Carcinofibroma of the corpus uteri

code:
  v: 213610
display:
  v: Carcinosarcoma of the corpus uteri

code:
  v: 213615
display:
  v: Rhabdomyosarcoma of the corpus uteri

code:
  v: 213625
display:
  v: Leiomyosarcoma of the corpus uteri

code:
  v: 213630
display:
  v: Primitive neuroectodermal tumor of the corpus uteri

code:
  v: 2137
display:
  v: Autoimmune hepatitis

code:
  v: 213711
display:
  v: Endometrial stromal sarcoma

code:
  v: 213716
display:
  v: Squamous cell carcinoma of the corpus uteri

code:
  v: 213721
display:
  v: Undifferentiated carcinoma of the corpus uteri

code:
  v: 213726
display:
  v: Serous carcinoma of the corpus uteri

code:
  v: 213731
display:
  v: High-grade neuroendocrine carcinoma of the corpus uteri

code:
  v: 213736
display:
  v: Low-grade neuroendocrine tumor of the corpus uteri

code:
  v: 213746
display:
  v: Transitional cell carcinoma of the corpus uteri

code:
  v: 213751
display:
  v: Malignant germ cell tumor of the corpus uteri

code:
  v: 213767
display:
  v: Squamous cell carcinoma of the cervix uteri

code:
  v: 213772
display:
  v: Adenocarcinoma of the cervix uteri

code:
  v: 213777
display:
  v: High-grade neuroendocrine carcinoma of the cervix uteri

code:
  v: 213787
display:
  v: Carcinosarcoma of the cervix uteri

code:
  v: 213792
display:
  v: Adenosarcoma of the cervix uteri

code:
  v: 2138
display:
  v: 46,XX ovotesticular difference of sex development

code:
  v: 213802
display:
  v: Rhabdomyosarcoma of the cervix uteri

code:
  v: 213807
display:
  v: Leiomyosarcoma of the cervix uteri

code:
  v: 213812
display:
  v: Primitive neuroectodermal tumor of the cervix uteri

code:
  v: 213823
display:
  v: Adenoid cystic carcinoma of the cervix uteri

code:
  v: 213828
display:
  v: Adenoid basal carcinoma of the cervix uteri

code:
  v: 213833
display:
  v: Glassy cell carcinoma of the cervix uteri

code:
  v: 213837
display:
  v: Malignant germ cell tumor of the cervix uteri

code:
  v: 2139
display:
  v: Hernández-Aguirre Negrete syndrome

code:
  v: 214
display:
  v: Cystinuria

code:
  v: 2140
display:
  v: Congenital diaphragmatic hernia

code:
  v: 2141
display:
  v: Diaphragmatic defect-limb deficiency-skull defect syndrome

code:
  v: 2143
display:
  v: Donnai-Barrow syndrome

code:
  v: 2145
display:
  v: Craniosynostosis, Herrmann-Opitz type

code:
  v: 2148
display:
  v: Lissencephaly type 1 due to doublecortin gene mutation

code:
  v: 2149
display:
  v: Nodular neuronal heterotopia

code:
  v: 215
display:
  v: Congenital stationary night blindness

code:
  v: 2150
display:
  v: Hirschsprung disease-type D brachydactyly syndrome

code:
  v: 2151
display:
  v: Hirschsprung disease-ganglioneuroblastoma syndrome

code:
  v: 2152
display:
  v: Mowat-Wilson syndrome

code:
  v: 2153
display:
  v: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

code:
  v: 2155
display:
  v: Hirschsprung disease-deafness-polydactyly syndrome

code:
  v: 2157
display:
  v: Histidinemia

code:
  v: 2158
display:
  v: Histidinuria-renal tubular defect syndrome

code:
  v: 2162
display:
  v: Holoprosencephaly

code:
  v: 2163
display:
  v: Holoprosencephaly-craniosynostosis syndrome

code:
  v: 2165
display:
  v: Holoprosencephaly-caudal dysgenesis syndrome

code:
  v: 2166
display:
  v: Holoprosencephaly-postaxial polydactyly syndrome

code:
  v: 216694
display:
  v: Congenitally corrected transposition of the great arteries

code:
  v: 2167
display:
  v: Holzgreve syndrome

code:
  v: 216718
display:
  v: Isolated congenitally uncorrected transposition of the great arteries

code:
  v: 216729
display:
  v: Congenitally uncorrected transposition of the great arteries with cardiac malformation

code:
  v: 216796
display:
  v: Osteogenesis imperfecta type 1

code:
  v: 216804
display:
  v: Osteogenesis imperfecta type 2

code:
  v: 216812
display:
  v: Osteogenesis imperfecta type 3

code:
  v: 216820
display:
  v: Osteogenesis imperfecta type 4

code:
  v: 216828
display:
  v: Osteogenesis imperfecta type 5

code:
  v: 216866
display:
  v: Classic pantothenate kinase-associated neurodegeneration

code:
  v: 216873
display:
  v: Atypical pantothenate kinase-associated neurodegeneration

code:
  v: 2169
display:
  v: Methylcobalamin deficiency type cblE

code:
  v: 216972
display:
  v: Niemann-Pick disease type C, severe perinatal form

code:
  v: 216975
display:
  v: Niemann-Pick disease type C, severe early infantile neurologic onset

code:
  v: 216978
display:
  v: Niemann-Pick disease type C, late infantile neurologic onset

code:
  v: 216981
display:
  v: Niemann-Pick disease type C, juvenile neurologic onset

code:
  v: 216986
display:
  v: Niemann-Pick disease type C, adult neurologic onset

code:
  v: 217
display:
  v: Isolated Dandy-Walker malformation

code:
  v: 2170
display:
  v: Methylcobalamin deficiency type cblG

code:
  v: 217008
display:
  v: Bockenheimer syndrome

code:
  v: 217012
display:
  v: Spinocerebellar ataxia type 31

code:
  v: 217017
display:
  v: Zechi-Ceide syndrome

code:
  v: 217026
display:
  v: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

code:
  v: 217055
display:
  v: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

code:
  v: 217059
display:
  v: Isolated nail clubbing

code:
  v: 217064
display:
  v: 5-fluorouracil poisoning

code:
  v: 217067
display:
  v: Pouchitis

code:
  v: 217080
display:
  v: Pulmonary fungal infections in patients deemed at risk

code:
  v: 217085
display:
  v: Mucopolysaccharidosis type 2, severe form

code:
  v: 217093
display:
  v: Mucopolysaccharidosis type 2, attenuated form

code:
  v: 2172
display:
  v: Microcephaly-glomerulonephritis-marfanoid habitus syndrome

code:
  v: 217253
display:
  v: NMDA receptor encephalitis

code:
  v: 217260
display:
  v: Progressive multifocal leukoencephalopathy

code:
  v: 217266
display:
  v: BNAR syndrome

code:
  v: 217330
display:
  v: REN-related autosomal dominant tubulointerstitial kidney disease

code:
  v: 217335
display:
  v: RIN2 syndrome

code:
  v: 217340
display:
  v: 17q21.31 microduplication syndrome

code:
  v: 217346
display:
  v: 19q13.11 microdeletion syndrome

code:
  v: 217371
display:
  v: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

code:
  v: 217377
display:
  v: Microduplication Xp11.22p11.23 syndrome

code:
  v: 217382
display:
  v: Neurodegenerative syndrome due to cerebral folate transport deficiency

code:
  v: 217385
display:
  v: 17p13.3 microduplication syndrome

code:
  v: 217390
display:
  v: Combined immunodeficiency due to DOCK8 deficiency

code:
  v: 217396
display:
  v: Progressive polyneuropathy with bilateral striatal necrosis

code:
  v: 217399
display:
  v: Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

code:
  v: 217407
display:
  v: Hereditary hypotrichosis with recurrent skin vesicles

code:
  v: 217467
display:
  v: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

code:
  v: 217557
display:
  v: Pulmonary interstitial glycogenosis

code:
  v: 217560
display:
  v: Neuroendocrine cell hyperplasia of infancy

code:
  v: 217563
display:
  v: Neonatal acute respiratory distress syndrome

code:
  v: 217566
display:
  v: Chronic respiratory distress with surfactant metabolism deficiency

code:
  v: 2176
display:
  v: Infantile systemic hyalinosis

code:
  v: 217622
display:
  v: Sensorineural deafness with dilated cardiomyopathy

code:
  v: 217656
display:
  v: Inherited isolated arrhythmogenic cardiomyopathy

code:
  v: 2177
display:
  v: Hydranencephaly

code:
  v: 218
display:
  v: Darier disease

code:
  v: 2180
display:
  v: Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

code:
  v: 2181
display:
  v: Hydrocephaly-tall stature-joint laxity syndrome

code:
  v: 2182
display:
  v: Hydrocephalus with stenosis of the aqueduct of Sylvius

code:
  v: 2183
display:
  v: Hydrocephalus-obesity-hypogonadism syndrome

code:
  v: 2184
display:
  v: Hydrocephaly-low insertion umbilicus syndrome

code:
  v: 2185
display:
  v: Congenital hydrocephalus

code:
  v: 2186
display:
  v: Hydrocephalus-blue sclerae-nephropathy syndrome

code:
  v: 2189
display:
  v: Hydrolethalus

code:
  v: 219
display:
  v: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

code:
  v: 2195
display:
  v: Dicarboxylic aminoaciduria

code:
  v: 2196
display:
  v: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

code:
  v: 2197
display:
  v: Idiopathic hypercalciuria

code:
  v: 2198
display:
  v: Palmoplantar keratoderma-esophageal carcinoma syndrome

code:
  v: 2199
display:
  v: Epidermolytic palmoplantar keratoderma

code:
  v: 22
display:
  v: Succinic semialdehyde dehydrogenase deficiency

code:
  v: 220
display:
  v: Denys-Drash syndrome

code:
  v: 2200
display:
  v: Focal palmoplantar and gingival keratoderma

code:
  v: 2201
display:
  v: Palmoplantar keratoderma-spastic paralysis syndrome

code:
  v: 2202
display:
  v: Palmoplantar keratoderma-deafness syndrome

code:
  v: 220295
display:
  v: Xeroderma pigmentosum-Cockayne syndrome complex

code:
  v: 2203
display:
  v: Hyperlysinemia

code:
  v: 220386
display:
  v: Semilobar holoprosencephaly

code:
  v: 220393
display:
  v: Diffuse cutaneous systemic sclerosis

code:
  v: 2204
display:
  v: Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

code:
  v: 220402
display:
  v: Limited cutaneous systemic sclerosis

code:
  v: 220407
display:
  v: Limited systemic sclerosis

code:
  v: 220436
display:
  v: Quebec platelet disorder

code:
  v: 220443
display:
  v: Bleeding diathesis due to thromboxane synthesis deficiency

code:
  v: 220448
display:
  v: Macrothrombocytopenia with mitral valve insufficiency

code:
  v: 220460
display:
  v: Attenuated familial adenomatous polyposis

code:
  v: 220465
display:
  v: Laron syndrome with immunodeficiency

code:
  v: 220493
display:
  v: Joubert syndrome with ocular defect

code:
  v: 220497
display:
  v: Joubert syndrome with renal defect

code:
  v: 2206
display:
  v: Ankylosing vertebral hyperostosis with tylosis

code:
  v: 2209
display:
  v: Maternal phenylketonuria syndrome

code:
  v: 221
display:
  v: Dermatomyositis

code:
  v: 221008
display:
  v: Rothmund-Thomson syndrome type 1

code:
  v: 221016
display:
  v: Rothmund-Thomson syndrome type 2

code:
  v: 221039
display:
  v: Hereditary sclerosing poikiloderma, Weary type

code:
  v: 221043
display:
  v: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

code:
  v: 221046
display:
  v: Poikiloderma with neutropenia

code:
  v: 221054
display:
  v: Acrocephalopolydactyly

code:
  v: 221061
display:
  v: Familial cerebral cavernous malformation

code:
  v: 221074
display:
  v: Marchiafava-Bignami disease

code:
  v: 221078
display:
  v: Combined hyperactive dysfunction syndrome of the cranial nerves

code:
  v: 221083
display:
  v: Hemifacial spasm

code:
  v: 221091
display:
  v: Trigeminal neuralgia

code:
  v: 221098
display:
  v: Glossopharyngeal neuralgia

code:
  v: 2211
display:
  v: Hypertelorism-hypospadias-polysyndactyly syndrome

code:
  v: 221117
display:
  v: Gerstmann syndrome

code:
  v: 221120
display:
  v: Pseudoaminopterin syndrome

code:
  v: 221126
display:
  v: Fowler vasculopathy

code:
  v: 221139
display:
  v: Combined immunodeficiency with facio-oculo-skeletal anomalies

code:
  v: 221142
display:
  v: Confetti-like macular atrophy

code:
  v: 221145
display:
  v: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

code:
  v: 2213
display:
  v: Hypertelorism-microtia-facial clefting syndrome

code:
  v: 2215
display:
  v: Multiple pterygium-malignant hyperthermia syndrome

code:
  v: 2216
display:
  v: Maternal hyperthermia-induced birth defects

code:
  v: 2218
display:
  v: Cervical hypertrichosis-peripheral neuropathy syndrome

code:
  v: 222
display:
  v: Erosive pustular dermatosis of the scalp

code:
  v: 2220
display:
  v: Hypertrichosis cubiti

code:
  v: 2221
display:
  v: Acquired hypertrichosis lanuginosa

code:
  v: 2222
display:
  v: Hypertrichosis lanuginosa congenita

code:
  v: 2224
display:
  v: Hypertryptophanemia

code:
  v: 2228
display:
  v: Hypodontia-dysplasia of nails syndrome

code:
  v: 2229
display:
  v: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

code:
  v: 223
display:
  v: Arginine vasopressin resistance

code:
  v: 2230
display:
  v: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

code:
  v: 2232
display:
  v: Primary hypergonadotropic hypogonadism-partial alopecia syndrome

code:
  v: 2233
display:
  v: Hypogonadism-mitral valve prolapse-intellectual disability syndrome

code:
  v: 2234
display:
  v: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

code:
  v: 2235
display:
  v: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

code:
  v: 2237
display:
  v: Hypoparathyroidism-sensorineural deafness-renal disease syndrome

code:
  v: 2238
display:
  v: Familial isolated hypoparathyroidism

code:
  v: 2239
display:
  v: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

code:
  v: 2241
display:
  v: Megacystis-microcolon-intestinal hypoperistalsis syndrome

code:
  v: 2246
display:
  v: Cerebellar hypoplasia-tapetoretinal degeneration syndrome

code:
  v: 2248
display:
  v: Hypoplastic left heart syndrome

code:
  v: 2249
display:
  v: Ulna hypoplasia-intellectual disability syndrome

code:
  v: 2250
display:
  v: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

code:
  v: 2251
display:
  v: Thumb deformity-alopecia-pigmentation anomaly syndrome

code:
  v: 225123
display:
  v: TFR2-related hemochromatosis

code:
  v: 225147
display:
  v: Sporadic infantile bilateral striatal necrosis

code:
  v: 225154
display:
  v: Familial infantile bilateral striatal necrosis

code:
  v: 2252
display:
  v: Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

code:
  v: 2253
display:
  v: Foveal hypoplasia-presenile cataract syndrome

code:
  v: 2254
display:
  v: Pontocerebellar hypoplasia type 1

code:
  v: 2255
display:
  v: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

code:
  v: 2256
display:
  v: Fibulo-ulnar hypoplasia-renal anomalies syndrome

code:
  v: 2257
display:
  v: Primary pulmonary hypoplasia

code:
  v: 226
display:
  v: Dihydropteridine reductase deficiency

code:
  v: 2260
display:
  v: Oligomeganephronia

code:
  v: 2261
display:
  v: Hypospadias-intellectual disability, Goldblatt type syndrome

code:
  v: 226307
display:
  v: Hypothyroidism due to deficient transcription factors involved in pituitary development or function

code:
  v: 226313
display:
  v: Congenital hypothyroidism due to maternal intake of antithyroid drugs

code:
  v: 226316
display:
  v: Genetic transient congenital hypothyroidism

code:
  v: 2266
display:
  v: Hypotrichosis-intellectual disability, Lopes type

code:
  v: 2268
display:
  v: ICF syndrome

code:
  v: 2269
display:
  v: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

code:
  v: 227
display:
  v: Diphallia

code:
  v: 2271
display:
  v: Congenital ichthyosis-microcephalus-tetraplegia syndrome

code:
  v: 2272
display:
  v: Ichthyosis-oral and digital anomalies syndrome

code:
  v: 2273
display:
  v: Ichthyosis follicularis-alopecia-photophobia syndrome

code:
  v: 2274
display:
  v: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

code:
  v: 227510
display:
  v: Multiple system atrophy, cerebellar type

code:
  v: 227535
display:
  v: Hereditary breast cancer

code:
  v: 227796
display:
  v: Fundus albipunctatus

code:
  v: 2278
display:
  v: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

code:
  v: 227972
display:
  v: Toxic oil syndrome

code:
  v: 227976
display:
  v: Autosomal recessive optic atrophy, OPA7 type

code:
  v: 227982
display:
  v: Autoimmune polyendocrinopathy type 3

code:
  v: 227990
display:
  v: Autoimmune polyendocrinopathy type 4

code:
  v: 228000
display:
  v: Idiopathic CD4 lymphocytopenia

code:
  v: 228003
display:
  v: Severe combined immunodeficiency due to CORO1A deficiency

code:
  v: 228012
display:
  v: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

code:
  v: 228113
display:
  v: Anal fistula

code:
  v: 228116
display:
  v: Hughes-Stovin syndrome

code:
  v: 228119
display:
  v: Fusariosis

code:
  v: 228123
display:
  v: Coccidioidomycosis

code:
  v: 228140
display:
  v: Idiopathic ventricular fibrillation

code:
  v: 228157
display:
  v: Marburg acute multiple sclerosis

code:
  v: 228165
display:
  v: Baló concentric sclerosis

code:
  v: 228169
display:
  v: Autosomal dominant striatal neurodegeneration

code:
  v: 228174
display:
  v: Autosomal dominant Charcot-Marie-Tooth disease type 2N

code:
  v: 228179
display:
  v: Autosomal dominant Charcot-Marie-Tooth disease type 2M

code:
  v: 228190
display:
  v: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

code:
  v: 2282
display:
  v: Dysmorphism-short stature-deafness-difference of sex development syndrome

code:
  v: 228227
display:
  v: Late-onset focal dermal elastosis

code:
  v: 228236
display:
  v: Linear focal elastosis

code:
  v: 228240
display:
  v: Elastoderma

code:
  v: 228243
display:
  v: Elastofibroma dorsi

code:
  v: 228247
display:
  v: Acquired pseudoxanthoma elasticum

code:
  v: 228254
display:
  v: Elastoma

code:
  v: 228264
display:
  v: Papular elastorrhexis

code:
  v: 228272
display:
  v: Primary anetoderma

code:
  v: 228277
display:
  v: Familial anetoderma

code:
  v: 228285
display:
  v: Acquired cutis laxa

code:
  v: 228290
display:
  v: White fibrous papulosis of the neck

code:
  v: 228293
display:
  v: Pseudoxanthoma elasticum-like papillary dermal elastolysis

code:
  v: 228299
display:
  v: Mid-dermal elastolysis

code:
  v: 228302
display:
  v: Carnitine palmitoyl transferase II deficiency, myopathic form

code:
  v: 228305
display:
  v: Carnitine palmitoyl transferase II deficiency, severe infantile form

code:
  v: 228308
display:
  v: Carnitine palmitoyl transferase II deficiency, neonatal form

code:
  v: 228329
display:
  v: CLN1 disease

code:
  v: 228337
display:
  v: CLN10 disease

code:
  v: 228343
display:
  v: CLN4 disease

code:
  v: 228346
display:
  v: CLN3 disease

code:
  v: 228349
display:
  v: CLN2 disease

code:
  v: 228354
display:
  v: CLN8 disease

code:
  v: 228360
display:
  v: CLN5 disease