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final Value Set eHDSIRareDisease 2024‑01‑25 16:38:00

This terminology is a snapshot as of 2024‑04‑22 07:38:54. Terminologies may evolve over time. If you need recent (dynamic) versions of this terminology, please retrieve it from the source.
Id 1.3.6.1.4.1.12559.11.10.1.3.1.42.63 Effective Date 2024‑01‑25 16:38:00
Other versions this id:
Status final Final Version Label 202401
Name eHDSIRareDisease Display Name eHDSIRareDisease
Description The Value Set is used to describe the problems and medication reasons.
Usage: 4
Id Name Type
Template
1.3.6.1.4.1.12559.11.10.1.3.1.3.41 eHDSI Medication Reason Observation DYNAMIC
1.3.6.1.4.1.12559.11.10.1.3.1.3.41 eHDSI Medication Reason Observation DYNAMIC
1.3.6.1.4.1.12559.11.10.1.3.1.3.7 eHDSI Problem DYNAMIC
1.3.6.1.4.1.12559.11.10.1.3.1.3.7 eHDSI Problem DYNAMIC
Source Code System
1.3.6.1.4.1.12559.11.10.1.3.1.44.5 - ORPHAnet - FHIR: urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5
Level/ Type Code Display Name Code System
0‑L
10
48,XXYY syndrome
ORPHAnet
0‑L
100
Ataxia-telangiectasia
ORPHAnet
0‑L
1000
Ocular albinism with late-onset sensorineural deafness
ORPHAnet
0‑L
100000
Reticular perineurioma
ORPHAnet
0‑L
100001
Sclerosing perineurioma
ORPHAnet
0‑L
100002
Extraneural perineurioma
ORPHAnet
0‑L
100003
Intraneural perineurioma
ORPHAnet
0‑L
100006
ABeta amyloidosis, Dutch type
ORPHAnet
0‑L
100008
ACys amyloidosis
ORPHAnet
0‑L
100011
Lissencephaly with cerebellar hypoplasia type A
ORPHAnet
0‑L
100012
Lissencephaly with cerebellar hypoplasia type B
ORPHAnet
0‑L
100013
Lissencephaly with cerebellar hypoplasia type C
ORPHAnet
0‑L
100014
Lissencephaly with cerebellar hypoplasia type D
ORPHAnet
0‑L
100015
Lissencephaly with cerebellar hypoplasia type E
ORPHAnet
0‑L
100016
Lissencephaly with cerebellar hypoplasia type F
ORPHAnet
0‑L
100019
Refractory anemia with excess blasts type 1
ORPHAnet
0‑L
100020
Refractory anemia with excess blasts type 2
ORPHAnet
0‑L
100021
Primary plasmacytoma of the bone
ORPHAnet
0‑L
100022
Extramedullary soft tissue plasmacytoma
ORPHAnet
0‑L
100024
Mu-heavy chain disease
ORPHAnet
0‑L
100025
Alpha-heavy chain disease
ORPHAnet
0‑L
100026
Gamma-heavy chain disease
ORPHAnet
0‑L
100031
Hypoplastic amelogenesis imperfecta
ORPHAnet
0‑L
100032
Hypocalcified amelogenesis imperfecta
ORPHAnet
0‑L
100033
Hypomaturation amelogenesis imperfecta
ORPHAnet
0‑L
100034
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
ORPHAnet
0‑L
100035
Solitary necrotic nodule of the liver
ORPHAnet
0‑L
100043
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
ORPHAnet
0‑L
100044
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
ORPHAnet
0‑L
100045
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
ORPHAnet
0‑L
100046
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
ORPHAnet
0‑L
100047
Esophageal duplication cyst
ORPHAnet
0‑L
100048
Tubular duplication of the esophagus
ORPHAnet
0‑L
100050
Hereditary angioedema type 1
ORPHAnet
0‑L
100051
Hereditary angioedema type 2
ORPHAnet
0‑L
100054
F12-related hereditary angioedema with normal C1Inh
ORPHAnet
0‑L
100055
Acquired angioedema type 2
ORPHAnet
0‑L
100056
Acquired angioedema type 1
ORPHAnet
0‑L
100057
Renin-angiotensin-aldosterone system-blocker-induced angioedema
ORPHAnet
0‑L
100067
Waterhouse-Friderichsen syndrome
ORPHAnet
0‑L
100069
Semantic dementia
ORPHAnet
0‑L
100070
Progressive non-fluent aphasia
ORPHAnet
0‑L
100071
Mosaic trisomy 3
ORPHAnet
0‑L
100073
Neurogenic thoracic outlet syndrome
ORPHAnet
0‑L
100075
Neuroendocrine tumor of stomach
ORPHAnet
0‑L
100078
Ileal neuroendocrine tumor
ORPHAnet
0‑L
100079
Neuroendocrine neoplasm of appendix
ORPHAnet
0‑L
100080
Neuroendocrine tumor of the colon
ORPHAnet
0‑L
100081
Neuroendocrine tumor of the rectum
ORPHAnet
0‑L
100082
Neuroendocrine tumor of anal canal
ORPHAnet
0‑L
100083
Laryngeal neuroendocrine tumor
ORPHAnet
0‑L
100084
Middle ear neuroendocrine tumor
ORPHAnet
0‑L
100085
Primary hepatic neuroendocrine carcinoma
ORPHAnet
0‑L
100086
Gallbladder neuroendocrine tumor
ORPHAnet
0‑L
100093
Carcinoid syndrome
ORPHAnet
0‑L
1001
2q37 microdeletion syndrome
ORPHAnet
0‑L
1003
Scalp defects-postaxial polydactyly syndrome
ORPHAnet
0‑L
1005
Alopecia-contractures-dwarfism-intellectual disability syndrome
ORPHAnet
0‑L
1006
Alopecia antibody deficiency
ORPHAnet
0‑L
1008
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
ORPHAnet
0‑L
100924
Porphyria due to ALA dehydratase deficiency
ORPHAnet
0‑L
100973
FRAXE intellectual disability
ORPHAnet
0‑L
100974
FRAXF syndrome
ORPHAnet
0‑L
100976
Bathing suit ichthyosis
ORPHAnet
0‑L
100978
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
ORPHAnet
0‑L
100984
Autosomal dominant spastic paraplegia type 3
ORPHAnet
0‑L
100985
Autosomal dominant spastic paraplegia type 4
ORPHAnet
0‑L
100986
Autosomal recessive spastic paraplegia type 5A
ORPHAnet
0‑L
100988
Autosomal dominant spastic paraplegia type 6
ORPHAnet
0‑L
100989
Autosomal dominant spastic paraplegia type 8
ORPHAnet
0‑L
100991
Autosomal dominant spastic paraplegia type 10
ORPHAnet
0‑L
100993
Autosomal dominant spastic paraplegia type 12
ORPHAnet
0‑L
100994
Autosomal dominant spastic paraplegia type 13
ORPHAnet
0‑L
100995
Autosomal recessive spastic paraplegia type 14
ORPHAnet
0‑L
100996
Autosomal recessive spastic paraplegia type 15
ORPHAnet
0‑L
100997
X-linked spastic paraplegia type 16
ORPHAnet
0‑L
100998
Autosomal dominant spastic paraplegia type 17
ORPHAnet
0‑L
100999
Autosomal dominant spastic paraplegia type 19
ORPHAnet
0‑L
101
Dentatorubral pallidoluysian atrophy
ORPHAnet
0‑L
1010
Autosomal dominant palmoplantar keratoderma and congenital alopecia
ORPHAnet
0‑L
101000
Autosomal recessive spastic paraplegia type 20
ORPHAnet
0‑L
101001
Autosomal recessive spastic paraplegia type 21
ORPHAnet
0‑L
101003
Autosomal recessive spastic paraplegia type 23
ORPHAnet
0‑L
101004
Autosomal recessive spastic paraplegia type 24
ORPHAnet
0‑L
101005
Autosomal recessive spastic paraplegia type 25
ORPHAnet
0‑L
101006
Autosomal recessive spastic paraplegia type 26
ORPHAnet
0‑L
101007
Autosomal recessive spastic paraplegia type 27
ORPHAnet
0‑L
101008
Autosomal recessive spastic paraplegia type 28
ORPHAnet
0‑L
101009
Autosomal dominant spastic paraplegia type 29
ORPHAnet
0‑L
101010
Autosomal spastic paraplegia type 30
ORPHAnet
0‑L
101011
Autosomal dominant spastic paraplegia type 31
ORPHAnet
0‑L
101016
Romano-Ward syndrome
ORPHAnet
0‑L
101023
Cleft hard palate
ORPHAnet
0‑L
101028
Transaldolase deficiency
ORPHAnet
0‑L
101029
Sub-cortical nodular heterotopia
ORPHAnet
0‑L
101030
Subependymal nodular heterotopia
ORPHAnet
0‑L
101039
Female restricted epilepsy with intellectual disability
ORPHAnet
0‑L
101041
Familial hypofibrinogenemia
ORPHAnet
0‑L
101043
Congenital aortic valve dysplasia
ORPHAnet
0‑L
101046
Autosomal dominant epilepsy with auditory features
ORPHAnet
0‑L
101049
Familial hypocalciuric hypercalcemia type 2
ORPHAnet
0‑L
101050
Familial hypocalciuric hypercalcemia type 3
ORPHAnet
0‑L
101063
Situs inversus totalis
ORPHAnet
0‑L
101068
Congenital stromal corneal dystrophy
ORPHAnet
0‑L
101070
Bilateral frontoparietal polymicrogyria
ORPHAnet
0‑L
101071
Unilateral hemispheric polymicrogyria
ORPHAnet
0‑L
101075
X-linked Charcot-Marie-Tooth disease type 1
ORPHAnet
0‑L
101076
X-linked Charcot-Marie-Tooth disease type 2
ORPHAnet
0‑L
101077
X-linked Charcot-Marie-Tooth disease type 3
ORPHAnet
0‑L
101078
X-linked Charcot-Marie-Tooth disease type 4
ORPHAnet
0‑L
101081
Charcot-Marie-Tooth disease type 1A
ORPHAnet
0‑L
101082
Charcot-Marie-Tooth disease type 1B
ORPHAnet
0‑L
101083
Charcot-Marie-Tooth disease type 1C
ORPHAnet
0‑L
101084
Charcot-Marie-Tooth disease type 1D
ORPHAnet
0‑L
101085
Charcot-Marie-Tooth disease type 1F
ORPHAnet
0‑L
101088
X-linked hyper-IgM syndrome
ORPHAnet
0‑L
101089
Hyper-IgM syndrome type 2
ORPHAnet
0‑L
101090
Hyper-IgM syndrome type 3
ORPHAnet
0‑L
101091
Hyper-IgM syndrome type 4
ORPHAnet
0‑L
101092
Hyper-IgM syndrome type 5
ORPHAnet
0‑L
101096
Aregenerative anemia
ORPHAnet
0‑L
101097
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ORPHAnet
0‑L
101101
Charcot-Marie-Tooth disease type 2B2
ORPHAnet
0‑L
101102
Charcot-Marie-Tooth disease type 2H
ORPHAnet
0‑L
101104
Marin-Amat syndrome
ORPHAnet
0‑L
101108
Spinocerebellar ataxia type 23
ORPHAnet
0‑L
101109
Spinocerebellar ataxia type 28
ORPHAnet
0‑L
101110
Spinocerebellar ataxia type 20
ORPHAnet
0‑L
101111
Spinocerebellar ataxia type 25
ORPHAnet
0‑L
101112
Spinocerebellar ataxia type 26
ORPHAnet
0‑L
101150
Autosomal recessive dopa-responsive dystonia
ORPHAnet
0‑L
101206
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
ORPHAnet
0‑L
101330
Porphyria cutanea tarda
ORPHAnet
0‑L
101334
African tick typhus
ORPHAnet
0‑L
101351
Familial isolated congenital asplenia
ORPHAnet
0‑L
1014
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
ORPHAnet
0‑L
101685
Rare non-syndromic intellectual disability
ORPHAnet
0‑L
1018
X-linked Alport syndrome-diffuse leiomyomatosis
ORPHAnet
0‑L
101932
Anomaly of the mitral subvalvular apparatus
ORPHAnet
0‑L
102
Multiple system atrophy
ORPHAnet
0‑L
1020
Early-onset autosomal dominant Alzheimer disease
ORPHAnet
0‑L
1021
Amaurosis-hypertrichosis syndrome
ORPHAnet
0‑L
1023
Congenital generalized hypertrichosis, Ambras type
ORPHAnet
0‑L
102379
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
ORPHAnet
0‑L
102381
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
ORPHAnet
0‑L
1027
Autosomal recessive amelia
ORPHAnet
0‑L
102724
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
ORPHAnet
0‑L
1028
Amelo-onycho-hypohidrotic syndrome
ORPHAnet
0‑L
1031
Enamel-renal syndrome
ORPHAnet
0‑L
1035
Beta-mercaptolactate cysteine disulfiduria
ORPHAnet
0‑L
103907
Chronic diarrhea due to glucoamylase deficiency
ORPHAnet
0‑L
103908
Congenital sodium diarrhea
ORPHAnet
0‑L
103909
Trehalase deficiency
ORPHAnet
0‑L
103910
Congenital enterocyte heparan sulfate deficiency
ORPHAnet
0‑L
103918
Tropical pancreatitis
ORPHAnet
0‑L
103920
Undetermined colitis
ORPHAnet
0‑L
104
Leber hereditary optic neuropathy
ORPHAnet
0‑L
1040
Metaphyseal anadysplasia
ORPHAnet
0‑L
104075
Adenocarcinoma of the small intestine
ORPHAnet
0‑L
104076
Leiomyosarcoma of small intestine
ORPHAnet
0‑L
104077
Myopathic intestinal pseudoobstruction
ORPHAnet
0‑L
104078
Unclassified intestinal pseudoobstruction
ORPHAnet
0‑L
1041
Hydrops fetalis
ORPHAnet
0‑L
1046
Lethal hemolytic anemia-genital anomalies syndrome
ORPHAnet
0‑L
1048
Isolated anencephaly/exencephaly
ORPHAnet
0‑L
105
Atresia of urethra
ORPHAnet
0‑L
1051
Ramos-Arroyo syndrome
ORPHAnet
0‑L
1052
Mosaic variegated aneuploidy syndrome
ORPHAnet
0‑L
1053
Vein of Galen aneurysmal malformation
ORPHAnet
0‑L
1054
Aneurysm of sinus of Valsalva
ORPHAnet
0‑L
1055
Congenital left ventricular aneurysm
ORPHAnet
0‑L
1059
Blue rubber bleb nevus
ORPHAnet
0‑L
1062
Hereditary neurocutaneous malformation
ORPHAnet
0‑L
1063
Tufted angioma
ORPHAnet
0‑L
1064
Aniridia-renal agenesis-psychomotor retardation syndrome
ORPHAnet
0‑L
1065
Aniridia-cerebellar ataxia-intellectual disability syndrome
ORPHAnet
0‑L
1067
Aniridia-ptosis-intellectual disability-familial obesity syndrome
ORPHAnet
0‑L
1068
Aniridia-intellectual disability syndrome
ORPHAnet
0‑L
1069
Aniridia-absent patella syndrome
ORPHAnet
0‑L
107
BOR syndrome
ORPHAnet
0‑L
1070
Anisakiasis
ORPHAnet
0‑L
1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ORPHAnet
0‑L
1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
ORPHAnet
0‑L
1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
ORPHAnet
0‑L
1077
Dental ankylosis
ORPHAnet
0‑L
1078
Thumb stiffness-brachydactyly-intellectual disability syndrome
ORPHAnet
0‑L
108
Babesiosis
ORPHAnet
0‑L
1083
Microlissencephaly
ORPHAnet
0‑L
1084
Isolated lissencephaly type 1 without known genetic defects
ORPHAnet
0‑L
109
Bannayan-Riley-Ruvalcaba syndrome
ORPHAnet
0‑L
1094
Anonychia-microcephaly syndrome
ORPHAnet
0‑L
11
Pentasomy X
ORPHAnet
0‑L
110
Bardet-Biedl syndrome
ORPHAnet
0‑L
1101
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
ORPHAnet
0‑L
1104
Anophthalmia plus syndrome
ORPHAnet
0‑L
1106
Microphthalmia with limb anomalies
ORPHAnet
0‑L
111
Barth syndrome
ORPHAnet
0‑L
1110
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
ORPHAnet
0‑L
1112
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
ORPHAnet
0‑L
1113
Aphalangy-syndactyly-microcephaly syndrome
ORPHAnet
0‑L
1114
Aplasia cutis congenita
ORPHAnet
0‑L
1116
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
ORPHAnet
0‑L
1117
Aplasia cutis-myopia syndrome
ORPHAnet
0‑L
1118
Fibular aplasia-ectrodactyly syndrome
ORPHAnet
0‑L
112
Bartter syndrome
ORPHAnet
0‑L
1120
Lung agenesis-heart defect-thumb anomalies syndrome
ORPHAnet
0‑L
1121
Radial deficiency-tibial hypoplasia syndrome
ORPHAnet
0‑L
1122
Ulnar hypoplasia-split foot syndrome
ORPHAnet
0‑L
1123
Caudal appendage-deafness syndrome
ORPHAnet
0‑L
1125
Ocular motor apraxia, Cogan type
ORPHAnet
0‑L
1126
Aprosencephaly cerebellar dysgenesis
ORPHAnet
0‑L
1129
Arachnodactyly-abnormal ossification-intellectual disability syndrome
ORPHAnet
0‑L
113
Bazex-Dupré-Christol syndrome
ORPHAnet
0‑L
1130
Arachnodactyly-intellectual disability-dysmorphism syndrome
ORPHAnet
0‑L
1131
X-linked mandibulofacial dysostosis
ORPHAnet
0‑L
1133
AREDYLD syndrome
ORPHAnet
0‑L
1134
Isolated arrhinia
ORPHAnet
0‑L
1135
Arrhinia-choanal atresia-microphthalmia syndrome
ORPHAnet
0‑L
114
Auriculoosteodysplasia
ORPHAnet
0‑L
1143
Neurogenic arthrogryposis multiplex congenita
ORPHAnet
0‑L
1144
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
ORPHAnet
0‑L
1145
Infantile-onset X-linked spinal muscular atrophy
ORPHAnet
0‑L
1146
Distal arthrogryposis type 1
ORPHAnet
0‑L
1147
Sheldon-Hall syndrome
ORPHAnet
0‑L
1149
Kuskokwim syndrome
ORPHAnet
0‑L
115
Congenital contractural arachnodactyly
ORPHAnet
0‑L
1150
Arthrogryposis multiplex congenita-whistling face syndrome
ORPHAnet
0‑L
1154
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
ORPHAnet
0‑L
1159
Progressive pseudorheumatoid arthropathy of childhood
ORPHAnet
0‑L
116
Beckwith-Wiedemann syndrome
ORPHAnet
0‑L
1160
Chylous ascites
ORPHAnet
0‑L
1163
Aspergillosis
ORPHAnet
0‑L
1164
Allergic bronchopulmonary aspergillosis
ORPHAnet
0‑L
1166
Congenital unilateral hypoplasia of depressor anguli oris
ORPHAnet
0‑L
1168
Ataxia-oculomotor apraxia type 1
ORPHAnet
0‑L
117
Behçet disease
ORPHAnet
0‑L
1170
Autosomal recessive cerebelloparenchymal disorder type 3
ORPHAnet
0‑L
1171
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ORPHAnet
0‑L
1173
Cerebellar ataxia-hypogonadism syndrome
ORPHAnet
0‑L
1174
Cerebellar ataxia-ectodermal dysplasia syndrome
ORPHAnet
0‑L
1175
X-linked progressive cerebellar ataxia
ORPHAnet
0‑L
1177
Early-onset cerebellar ataxia with retained tendon reflexes
ORPHAnet
0‑L
1178
Ataxia-tapetoretinal degeneration syndrome
ORPHAnet
0‑L
1179
Benign paroxysmal tonic upgaze of childhood with ataxia
ORPHAnet
0‑L
118
Beta-mannosidosis
ORPHAnet
0‑L
1180
Ataxia-hypogonadism-choroidal dystrophy syndrome
ORPHAnet
0‑L
1182
Spastic ataxia with congenital miosis
ORPHAnet
0‑L
1183
Opsoclonus-myoclonus syndrome
ORPHAnet
0‑L
1184
Ataxia-photosensitivity-short stature syndrome
ORPHAnet
0‑L
1185
Spinocerebellar ataxia-dysmorphism syndrome
ORPHAnet
0‑L
1186
Infantile-onset spinocerebellar ataxia
ORPHAnet
0‑L
1187
Lethal ataxia with deafness and optic atrophy
ORPHAnet
0‑L
1188
Ataxia-deafness-intellectual disability syndrome
ORPHAnet
0‑L
119
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
ORPHAnet
0‑L
1190
Atelosteogenesis type I
ORPHAnet
0‑L
1192
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
ORPHAnet
0‑L
1193
Atkin-Flaitz syndrome
ORPHAnet
0‑L
1194
TMEM70-related mitochondrial encephalo-cardio-myopathy
ORPHAnet
0‑L
1195
Congenital atransferrinemia
ORPHAnet
0‑L
1198
Colonic atresia
ORPHAnet
0‑L
1199
Esophageal atresia
ORPHAnet
0‑L
1200
Burn-McKeown syndrome
ORPHAnet
0‑L
1201
Small bowel atresia
ORPHAnet
0‑L
1202
Larynx atresia
ORPHAnet
0‑L
1203
Duodenal atresia
ORPHAnet
0‑L
1205
Mitral atresia
ORPHAnet
0‑L
1207
Pulmonary atresia with ventricular septal defect
ORPHAnet
0‑L
1208
Pulmonary atresia-intact ventricular septum syndrome
ORPHAnet
0‑L
1209
Tricuspid atresia
ORPHAnet
0‑L
1214
Progressive hemifacial atrophy
ORPHAnet
0‑L
1215
Autosomal dominant optic atrophy plus syndrome
ORPHAnet
0‑L
1216
Autosomal dominant congenital benign spinal muscular atrophy
ORPHAnet
0‑L
1217
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
ORPHAnet
0‑L
122
Birt-Hogg-Dubé syndrome
ORPHAnet
0‑L
1221
Cheilitis glandularis
ORPHAnet
0‑L
1223
Balantidiasis
ORPHAnet
0‑L
1225
Baller-Gerold syndrome
ORPHAnet
0‑L
1226
Bamforth-Lazarus syndrome
ORPHAnet
0‑L
1227
Bangstad syndrome
ORPHAnet
0‑L
1228
Banki syndrome
ORPHAnet
0‑L
1229
Congenital intrauterine infection-like syndrome
ORPHAnet
0‑L
123
Björnstad syndrome
ORPHAnet
0‑L
1231
Barber-Say syndrome
ORPHAnet
0‑L
1234
Bartsocas-Papas syndrome
ORPHAnet
0‑L
1236
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
ORPHAnet
0‑L
1237
Beemer-Ertbruggen syndrome
ORPHAnet
0‑L
124
Diamond-Blackfan anemia
ORPHAnet
0‑L
1240
Metaphyseal acroscyphodysplasia
ORPHAnet
0‑L
1241
Bencze syndrome
ORPHAnet
0‑L
1243
Best vitelliform macular dystrophy
ORPHAnet
0‑L
1246
Brachydactyly-nystagmus-cerebellar ataxia syndrome
ORPHAnet
0‑L
1247
Schistosomiasis
ORPHAnet
0‑L
1248
Maxillonasal dysplasia
ORPHAnet
0‑L
125
Bloom syndrome
ORPHAnet
0‑L
1252
Blepharonasofacial malformation syndrome
ORPHAnet
0‑L
1253
Ascher syndrome
ORPHAnet
0‑L
1259
Blepharoptosis-myopia-ectopia lentis syndrome
ORPHAnet
0‑L
126
Blepharophimosis-ptosis-epicanthus inversus syndrome
ORPHAnet
0‑L
1261
Bonnemann-Meinecke-Reich syndrome
ORPHAnet
0‑L
1262
Böök syndrome
ORPHAnet
0‑L
1263
Boomerang dysplasia
ORPHAnet
0‑L
1264
Tricho-retino-dento-digital syndrome
ORPHAnet
0‑L
1267
Botulism
ORPHAnet
0‑L
127
Borjeson-Forssman-Lehmann syndrome
ORPHAnet
0‑L
1270
Bowen-Conradi syndrome
ORPHAnet
0‑L
1272
Aymé-Gripp syndrome
ORPHAnet
0‑L
1275
Brachydactyly-elbow wrist dysplasia syndrome
ORPHAnet
0‑L
1276
Brachydactyly-arterial hypertension syndrome
ORPHAnet
0‑L
1277
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
ORPHAnet
0‑L
1278
Brachydactyly-preaxial hallux varus syndrome
ORPHAnet
0‑L
128
Diphyllobothriasis
ORPHAnet
0‑L
129
Pseudopelade of Brocq
ORPHAnet
0‑L
1292
Brachymorphism-onychodysplasia-dysphalangism syndrome
ORPHAnet
0‑L
1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
ORPHAnet
0‑L
1296
Lambert syndrome
ORPHAnet
0‑L
1297
Branchio-oculo-facial syndrome
ORPHAnet
0‑L
1299
Branchioskeletogenital syndrome
ORPHAnet
0‑L
13
6-pyruvoyl-tetrahydropterin synthase deficiency
ORPHAnet
0‑L
130
Brugada syndrome
ORPHAnet
0‑L
1300
Autosomal dominant popliteal pterygium syndrome
ORPHAnet
0‑L
1302
Cryptogenic organizing pneumonia
ORPHAnet
0‑L
1303
Bronchiolitis obliterans with obstructive pulmonary disease
ORPHAnet
0‑L
1304
Brucellosis
ORPHAnet
0‑L
1305
Feingold syndrome
ORPHAnet
0‑L
1307
Distal limb deficiencies-micrognathia syndrome
ORPHAnet
0‑L
1308
C syndrome
ORPHAnet
0‑L
1309
Medullary sponge kidney
ORPHAnet
0‑L
131
Budd-Chiari syndrome
ORPHAnet
0‑L
1310
Caffey disease
ORPHAnet
0‑L
1313
Infantile choroidocerebral calcification syndrome
ORPHAnet
0‑L
1314
Symmetrical thalamic calcifications
ORPHAnet
0‑L
1318
Campomelia, Cumming type
ORPHAnet
0‑L
1319
Camptobrachydactyly
ORPHAnet
0‑L
132
Butyrylcholinesterase deficiency
ORPHAnet
0‑L
1320
Idiopathic camptocormia
ORPHAnet
0‑L
1321
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
ORPHAnet
0‑L
1323
Camptodactyly-joint contractures-facial skeletal defects syndrome
ORPHAnet
0‑L
1325
Camptodactyly-taurinuria syndrome
ORPHAnet
0‑L
1326
Camptodactyly syndrome, Guadalajara type 2
ORPHAnet
0‑L
1327
Camptodactyly syndrome, Guadalajara type 1
ORPHAnet
0‑L
1328
Camurati-Engelmann disease
ORPHAnet
0‑L
1329
Complete atrioventricular septal defect
ORPHAnet
0‑L
133
Chronic beryllium disease
ORPHAnet
0‑L
1330
Partial atrioventricular septal defect
ORPHAnet
0‑L
1331
Familial prostate cancer
ORPHAnet
0‑L
1332
Medullary thyroid carcinoma
ORPHAnet
0‑L
1333
Familial pancreatic carcinoma
ORPHAnet
0‑L
1334
Chronic mucocutaneous candidiasis
ORPHAnet
0‑L
1335
Pentalogy of Cantrell
ORPHAnet
0‑L
1336
Hyperkeratosis-hyperpigmentation syndrome
ORPHAnet
0‑L
1338
Heart defect-tongue hamartoma-polysyndactyly syndrome
ORPHAnet
0‑L
134
Beta-ketothiolase deficiency
ORPHAnet
0‑L
1340
Cardiofaciocutaneous syndrome
ORPHAnet
0‑L
1342
Heart-hand syndrome type 3
ORPHAnet
0‑L
1344
Atrial standstill
ORPHAnet
0‑L
1345
Cardiomyopathy-cataract-hip spine disease syndrome
ORPHAnet
0‑L
1349
Mitochondrial DNA-related cardiomyopathy and hearing loss
ORPHAnet
0‑L
135
CACH syndrome
ORPHAnet
0‑L
1350
Heart-hand syndrome type 2
ORPHAnet
0‑L
1352
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
ORPHAnet
0‑L
1354
Heart defects-limb shortening syndrome
ORPHAnet
0‑L
1355
Congenital heart defect-round face-developmental delay syndrome
ORPHAnet
0‑L
1358
Carey-Fineman-Ziter syndrome
ORPHAnet
0‑L
1359
Carney complex
ORPHAnet
0‑L
136
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
ORPHAnet
0‑L
1361
Carnosinase deficiency
ORPHAnet
0‑L
1366
Autosomal recessive palmoplantar keratoderma and congenital alopecia
ORPHAnet
0‑L
1368
Cataract-ataxia-deafness syndrome
ORPHAnet
0‑L
1369
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
ORPHAnet
0‑L
1373
Cataract-aberrant oral frenula-growth delay syndrome
ORPHAnet
0‑L
1375
Cataract-hypertrichosis-intellectual disability syndrome
ORPHAnet
0‑L
137577
Neonatal hypoxic and ischemic brain injury
ORPHAnet
0‑L
137583
Vulvar intraepithelial neoplasia
ORPHAnet
0‑L
137593
Infectious epithelial keratitis
ORPHAnet
0‑L
137596
Neurotrophic keratopathy
ORPHAnet
0‑L
137599
Herpes simplex virus stromal keratitis
ORPHAnet
0‑L
137602
Corneal endotheliitis
ORPHAnet
0‑L
137605
Legius syndrome
ORPHAnet
0‑L
137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
ORPHAnet
0‑L
137617
Nephrogenic systemic fibrosis
ORPHAnet
0‑L
137622
Intractable diarrhea-choanal atresia-eye anomalies syndrome
ORPHAnet
0‑L
137625
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
ORPHAnet
0‑L
137628
Cardiac anomalies-heterotaxy syndrome
ORPHAnet
0‑L
137631
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
ORPHAnet
0‑L
137634
Overgrowth-macrocephaly-facial dysmorphism syndrome
ORPHAnet
0‑L
137639
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
ORPHAnet
0‑L
137667
Capillary malformation-arteriovenous malformation
ORPHAnet
0‑L
137672
Pellucid marginal degeneration
ORPHAnet
0‑L
137675
Histiocytoid cardiomyopathy
ORPHAnet
0‑L
137678
Spondyloepiphyseal dysplasia with metatarsal shortening
ORPHAnet
0‑L
137681
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
ORPHAnet
0‑L
137686
Asherman syndrome
ORPHAnet
0‑L
137698
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
ORPHAnet
0‑L
1377
Cataract-microcornea syndrome
ORPHAnet
0‑L
137754
Neurological conditions associated with aminoacylase 1 deficiency
ORPHAnet
0‑L
137776
Lethal congenital contracture syndrome type 2
ORPHAnet
0‑L
137783
Lethal congenital contracture syndrome type 3
ORPHAnet
0‑L
137810
Nodular cutaneous amyloidosis
ORPHAnet
0‑L
137814
Macular amyloidosis
ORPHAnet
0‑L
137817
Arachnoiditis
ORPHAnet
0‑L
137820
Extrapelvic endometriosis
ORPHAnet
0‑L
137831
X-linked intellectual disability-cerebellar hypoplasia syndrome
ORPHAnet
0‑L
137834
Frank-Ter Haar syndrome
ORPHAnet
0‑L
137839
Lemierre syndrome
ORPHAnet
0‑L
137867
Madras motor neuron disease
ORPHAnet
0‑L
137888
Auriculocondylar syndrome
ORPHAnet
0‑L
137893
Male infertility due to large-headed multiflagellar polyploid spermatozoa
ORPHAnet
0‑L
137898
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
ORPHAnet
0‑L
137908
Hypotonia with lactic acidemia and hyperammonemia
ORPHAnet
0‑L
137914
Choanal atresia
ORPHAnet
0‑L
137917
Choanal atresia, unilateral
ORPHAnet
0‑L
137920
Choanal atresia, bilateral
ORPHAnet
0‑L
137926
Primary laryngeal lymphangioma
ORPHAnet
0‑L
137929
Neonatal brainstem dysfunction
ORPHAnet
0‑L
137932
Congenital laryngeal palsy
ORPHAnet
0‑L
137935
Laryngotracheal angioma
ORPHAnet
0‑L
138
CHARGE syndrome
ORPHAnet
0‑L
1380
Cataract-nephropathy-encephalopathy syndrome
ORPHAnet
0‑L
1381
Cataract-intellectual disability-anal atresia-urinary defects syndrome
ORPHAnet
0‑L
1383
Cataract-deafness-hypogonadism syndrome
ORPHAnet
0‑L
1387
Cataract-intellectual disability-hypogonadism syndrome
ORPHAnet
0‑L
1388
Catel-Manzke syndrome
ORPHAnet
0‑L
1389
Cortical blindness-intellectual disability-polydactyly syndrome
ORPHAnet
0‑L
139
CHILD syndrome
ORPHAnet
0‑L
1390
Night blindness-skeletal anomalies-dysmorphism syndrome
ORPHAnet
0‑L
1393
Cerebrocostomandibular syndrome
ORPHAnet
0‑L
139396
X-linked cerebral adrenoleukodystrophy
ORPHAnet
0‑L
139399
Adrenomyeloneuropathy
ORPHAnet
0‑L
1394
Cerebrofaciothoracic dysplasia
ORPHAnet
0‑L
139402
Drug reaction with eosinophilia and systemic symptoms
ORPHAnet
0‑L
139406
Encephalopathy due to prosaposin deficiency
ORPHAnet
0‑L
139411
Carney triad
ORPHAnet
0‑L
139414
Congenital panfollicular nevus
ORPHAnet
0‑L
139417
Acute transverse myelitis
ORPHAnet
0‑L
139423
Idiopathic acute transverse myelitis
ORPHAnet
0‑L
139426
Perioral myoclonia with absences
ORPHAnet
0‑L
139431
Jeavons syndrome
ORPHAnet
0‑L
139436
Multicentric reticulohistiocytosis
ORPHAnet
0‑L
139441
Hypomyelination with atrophy of basal ganglia and cerebellum
ORPHAnet
0‑L
139444
Leukoencephalopathy with bilateral anterior temporal lobe cysts
ORPHAnet
0‑L
139447
Progressive cavitating leukoencephalopathy
ORPHAnet
0‑L
139450
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
ORPHAnet
0‑L
139455
Autosomal recessive bestrophinopathy
ORPHAnet
0‑L
139466
SERKAL syndrome
ORPHAnet
0‑L
139471
Microphthalmia with brain and digit anomalies
ORPHAnet
0‑L
139474
17q11.2 microduplication syndrome
ORPHAnet
0‑L
139480
Autosomal recessive spastic paraplegia type 39
ORPHAnet
0‑L
139485
Autosomal recessive ataxia due to ubiquinone deficiency
ORPHAnet
0‑L
139507
Dietary iron overload disease
ORPHAnet
0‑L
139512
Neuropathy with hearing impairment
ORPHAnet
0‑L
139515
Charcot-Marie-Tooth disease type 4J
ORPHAnet
0‑L
139518
Distal hereditary motor neuropathy type 1
ORPHAnet
0‑L
139525
Distal hereditary motor neuropathy type 2
ORPHAnet
0‑L
139536
Distal hereditary motor neuropathy type 5
ORPHAnet
0‑L
139547
Distal spinal muscular atrophy type 3
ORPHAnet
0‑L
139552
Distal hereditary motor neuropathy, Jerash type
ORPHAnet
0‑L
139557
X-linked distal spinal muscular atrophy type 3
ORPHAnet
0‑L
139564
Hereditary sensory and autonomic neuropathy type 1B
ORPHAnet
0‑L
139573
Hereditary sensory and autonomic neuropathy with deafness and global delay
ORPHAnet
0‑L
139578
Mutilating hereditary sensory neuropathy with spastic paraplegia
ORPHAnet
0‑L
139583
X-linked hereditary sensory and autonomic neuropathy with deafness
ORPHAnet
0‑L
139589
Distal hereditary motor neuropathy type 7
ORPHAnet
0‑L
1397
Hydrocephaly-cerebellar agenesis syndrome
ORPHAnet
0‑L
1398
Isolated cerebellar agenesis
ORPHAnet
0‑L
1399
Richards-Rundle syndrome
ORPHAnet
0‑L
14
Abetalipoproteinemia
ORPHAnet
0‑L
140
Campomelic dysplasia
ORPHAnet
0‑L
1401
CHAND syndrome
ORPHAnet
0‑L
140286
Secondary hypoparathyroidism due to impaired parathormon secretion
ORPHAnet
0‑L
140436
Primary intraosseous venous malformation
ORPHAnet
0‑L
140481
Autosomal dominant slowed nerve conduction velocity
ORPHAnet
0‑L
1406
Charlie M syndrome
ORPHAnet
0‑L
140896
Severe acute respiratory syndrome
ORPHAnet
0‑L
140905
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
ORPHAnet
0‑L
140908
Brachydactyly type B2
ORPHAnet
0‑L
140917
Stapes ankylosis with broad thumbs and toes
ORPHAnet
0‑L
140922
Titin-related limb-girdle muscular dystrophy R10
ORPHAnet
0‑L
140927
Benign familial neonatal-infantile seizures
ORPHAnet
0‑L
140933
Linear atrophoderma of Moulin
ORPHAnet
0‑L
140936
Lelis syndrome
ORPHAnet
0‑L
140941
Short stature due to primary acid-labile subunit deficiency
ORPHAnet
0‑L
140944
CLOVES syndrome
ORPHAnet
0‑L
140949
Low-flow priapism
ORPHAnet
0‑L
140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
ORPHAnet
0‑L
140957
Autosomal dominant macrothrombocytopenia
ORPHAnet
0‑L
140963
Bilateral microtia-deafness-cleft palate syndrome
ORPHAnet
0‑L
140966
Palmoplantar keratoderma, Nagashima type
ORPHAnet
0‑L
140969
Saldino-Mainzer syndrome
ORPHAnet
0‑L
140976
RHYNS syndrome
ORPHAnet
0‑L
140989
Primary angiitis of the central nervous system
ORPHAnet
0‑L
141
Canavan disease
ORPHAnet
0‑L
1410
Uncombable hair syndrome
ORPHAnet
0‑L
141000
Orofaciodigital syndrome type 11
ORPHAnet
0‑L
141007
Orofaciodigital syndrome type 9
ORPHAnet
0‑L
141013
First branchial cleft anomaly
ORPHAnet
0‑L
141022
Second branchial cleft anomaly
ORPHAnet
0‑L
141030
Third branchial cleft anomaly
ORPHAnet
0‑L
141037
Fourth branchial cleft anomaly
ORPHAnet
0‑L
141046
Cervical dermoid cyst
ORPHAnet
This value set has 7325 codes in it. In order to keep the publication size manageable, only a selection (500 codes) of the whole set of codes is shown.

Legenda: Type L=leaf, S=specializable, A=abstract, D=deprecated. NullFlavor OTH (other) suggests text in originalText. HL7 V3: NullFlavors to appear in @nullFlavor attribute instead of @code.
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