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# Value Set eHDSIRareDisease 2026‑02‑06 15:48:00

This terminology is a snapshot as of 2026‑02‑11 10:48:51. 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 | 2026‑02‑06 15:48:00 Other versions this id: eHDSIRareDisease202502 - as of 2025‑02‑18 09:52:00 eHDSIRareDisease202401 - as of 2024‑01‑25 16:38:00 eHDSIRareDisease202301 - as of 2023‑01‑17 16:35:00 eHDSIRareDisease202206 - as of 2022‑06‑23 15:36:00
Status | Final | Version Label | 202602
Name | eHDSIRareDisease | Display Name | eHDSIRareDisease
Usage: 5
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
1.3.6.1.4.1.12559.11.10.1.3.1.3.41 | 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 | Myelodysplastic neoplasm with increased blasts type 1 | ORPHAnet
0‑L | 100020 | Myelodysplastic neoplasm with increased 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 | Isolated esophageal duplication cyst | ORPHAnet
0‑L | 100048 | Isolated 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 syndrome | 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 | 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 | 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 | 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 syndrome | 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 | 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 dysplasia | 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 | 1239 | Behr syndrome | ORPHAnet
0‑L | 124 | Diamond-Blackfan anemia | 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 | 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 | Hereditary 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 | Isolated 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 | 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 | 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 | Airway infantile hemangioma | 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 | Epilepsy with eyelid myoclonia | 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 | Self-limited neonatal-infantile epilepsy | 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
0‑L | 141051 | Facial dermoid cyst | ORPHAnet
0‑L | 141061 | Commissural lip fistula | ORPHAnet
0‑L | 141064 | Isolated lower lip fistula | ORPHAnet
0‑L | 141067 | Cervicofacial fibrochondroma | ORPHAnet
0‑L | 141071 | Isolated digestive duplication cyst of the tongue | ORPHAnet
This value set has 7611 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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