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# Value Set eHDSIRareDisease 2022‑06‑23 15:36:00

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 | 2022‑06‑23 15:36:00 Other versions this id: eHDSIRareDisease202602 - as of 2026‑02‑06 15:48:00 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
Status | Deprecated | Version Label | 202206
Name | eHDSIRareDisease | Display Name | eHDSIRareDisease
Description | The Value Set is used to describe the problems and medication reasons.
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 | 5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | ORPHAnet
0‑L | 6 | 3-methylcrotonyl-CoA carboxylase deficiency | ORPHAnet
0‑L | 7 | 3C syndrome | ORPHAnet
0‑L | 8 | 47,XYY syndrome | ORPHAnet
0‑L | 9 | Tetrasomy X | ORPHAnet
0‑L | 10 | 48,XXYY syndrome | ORPHAnet
0‑L | 11 | Pentasomy X | ORPHAnet
0‑L | 13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | ORPHAnet
0‑L | 14 | Abetalipoproteinemia | ORPHAnet
0‑L | 15 | Achondroplasia | ORPHAnet
0‑L | 16 | Blue cone monochromatism | ORPHAnet
0‑L | 17 | Fatal infantile lactic acidosis with methylmalonic aciduria | ORPHAnet
0‑L | 18 | Distal renal tubular acidosis | ORPHAnet
0‑L | 20 | 3-hydroxy-3-methylglutaric aciduria | ORPHAnet
0‑L | 22 | Succinic semialdehyde dehydrogenase deficiency | ORPHAnet
0‑L | 23 | Argininosuccinic aciduria | ORPHAnet
0‑L | 24 | Fumaric aciduria | ORPHAnet
0‑L | 25 | Glutaryl-CoA dehydrogenase deficiency | ORPHAnet
0‑L | 26 | Methylmalonic acidemia with homocystinuria | ORPHAnet
0‑L | 27 | Vitamin B12-unresponsive methylmalonic acidemia | ORPHAnet
0‑L | 28 | Vitamin B12-responsive methylmalonic acidemia | ORPHAnet
0‑L | 29 | Mevalonic aciduria | ORPHAnet
0‑L | 30 | Hereditary orotic aciduria | ORPHAnet
0‑L | 31 | Oxoglutaric aciduria | ORPHAnet
0‑L | 32 | Glutathione synthetase deficiency | ORPHAnet
0‑L | 33 | Isovaleric acidemia | ORPHAnet
0‑L | 35 | Propionic acidemia | ORPHAnet
0‑L | 36 | Acrocallosal syndrome | ORPHAnet
0‑L | 37 | Acrodermatitis enteropathica | ORPHAnet
0‑L | 38 | Acrokeratoelastoidosis of Costa | ORPHAnet
0‑L | 39 | Acromelanosis | ORPHAnet
0‑L | 40 | Acromesomelic dysplasia, Maroteaux type | ORPHAnet
0‑L | 41 | Dyschromatosis symmetrica hereditaria | ORPHAnet
0‑L | 42 | Medium chain acyl-CoA dehydrogenase deficiency | ORPHAnet
0‑L | 43 | X-linked adrenoleukodystrophy | ORPHAnet
0‑L | 44 | Neonatal adrenoleukodystrophy | ORPHAnet
0‑L | 45 | Adenosine monophosphate deaminase deficiency | ORPHAnet
0‑L | 46 | Adenylosuccinate lyase deficiency | ORPHAnet
0‑L | 47 | X-linked agammaglobulinemia | ORPHAnet
0‑L | 48 | Congenital bilateral absence of vas deferens | ORPHAnet
0‑L | 49 | Penile agenesis | ORPHAnet
0‑L | 50 | Aicardi syndrome | ORPHAnet
0‑L | 51 | Aicardi-Goutières syndrome | ORPHAnet
0‑L | 52 | Alagille syndrome | ORPHAnet
0‑L | 53 | Albers-Schönberg osteopetrosis | ORPHAnet
0‑L | 54 | X-linked recessive ocular albinism | ORPHAnet
0‑L | 56 | Alkaptonuria | ORPHAnet
0‑L | 57 | Glycogen storage disease due to aldolase A deficiency | ORPHAnet
0‑L | 58 | Alexander disease | ORPHAnet
0‑L | 59 | Allan-Herndon-Dudley syndrome | ORPHAnet
0‑L | 60 | Alpha-1-antitrypsin deficiency | ORPHAnet
0‑L | 61 | Alpha-mannosidosis | ORPHAnet
0‑L | 62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | ORPHAnet
0‑L | 63 | Alport syndrome | ORPHAnet
0‑L | 64 | Alström syndrome | ORPHAnet
0‑L | 65 | Leber congenital amaurosis | ORPHAnet
0‑L | 67 | Amoebiasis due to Entamoeba histolytica | ORPHAnet
0‑L | 68 | Amoebiasis due to free-living amoebae | ORPHAnet
0‑L | 70 | Proximal spinal muscular atrophy | ORPHAnet
0‑L | 71 | Chylomicron retention disease | ORPHAnet
0‑L | 72 | Angelman syndrome | ORPHAnet
0‑L | 73 | Gorham-Stout disease | ORPHAnet
0‑L | 74 | Angiostrongyliasis | ORPHAnet
0‑L | 76 | Strongyloidiasis | ORPHAnet
0‑L | 78 | Ankylostomiasis | ORPHAnet
0‑L | 79 | Congenital alpha2-antiplasmin deficiency | ORPHAnet
0‑L | 80 | Antiphospholipid syndrome | ORPHAnet
0‑L | 81 | Antisynthetase syndrome | ORPHAnet
0‑L | 82 | Hereditary thrombophilia due to congenital antithrombin deficiency | ORPHAnet
0‑L | 83 | Antley-Bixler syndrome | ORPHAnet
0‑L | 84 | Fanconi anemia | ORPHAnet
0‑L | 86 | Familial abdominal aortic aneurysm | ORPHAnet
0‑L | 87 | Apert syndrome | ORPHAnet
0‑L | 88 | Idiopathic aplastic anemia | ORPHAnet
0‑L | 90 | Argininemia | ORPHAnet
0‑L | 91 | Aromatase deficiency | ORPHAnet
0‑L | 93 | Aspartylglucosaminuria | ORPHAnet
0‑L | 95 | Friedreich ataxia | ORPHAnet
0‑L | 96 | Ataxia with vitamin E deficiency | ORPHAnet
0‑L | 97 | Familial paroxysmal ataxia | ORPHAnet
0‑L | 98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | ORPHAnet
0‑L | 100 | Ataxia-telangiectasia | ORPHAnet
0‑L | 101 | Dentatorubral pallidoluysian atrophy | ORPHAnet
0‑L | 102 | Multiple system atrophy | ORPHAnet
0‑L | 104 | Leber hereditary optic neuropathy | ORPHAnet
0‑L | 105 | Atresia of urethra | ORPHAnet
0‑L | 107 | BOR syndrome | ORPHAnet
0‑L | 108 | Babesiosis | ORPHAnet
0‑L | 109 | Bannayan-Riley-Ruvalcaba syndrome | ORPHAnet
0‑L | 110 | Bardet-Biedl syndrome | ORPHAnet
0‑L | 111 | Barth syndrome | ORPHAnet
0‑L | 112 | Bartter syndrome | ORPHAnet
0‑L | 113 | Bazex-Dupré-Christol syndrome | ORPHAnet
0‑L | 114 | Auriculoosteodysplasia | ORPHAnet
0‑L | 115 | Congenital contractural arachnodactyly | ORPHAnet
0‑L | 116 | Beckwith-Wiedemann syndrome | ORPHAnet
0‑L | 117 | Behçet disease | ORPHAnet
0‑L | 118 | Beta-mannosidosis | ORPHAnet
0‑L | 119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | ORPHAnet
0‑L | 122 | Birt-Hogg-Dubé syndrome | ORPHAnet
0‑L | 123 | Björnstad syndrome | ORPHAnet
0‑L | 124 | Blackfan-Diamond anemia | ORPHAnet
0‑L | 125 | Bloom syndrome | ORPHAnet
0‑L | 126 | Blepharophimosis-ptosis-epicanthus inversus syndrome | ORPHAnet
0‑L | 127 | Borjeson-Forssman-Lehmann syndrome | ORPHAnet
0‑L | 128 | Diphyllobothriasis | ORPHAnet
0‑L | 129 | Pseudopelade of Brocq | ORPHAnet
0‑L | 130 | Brugada syndrome | ORPHAnet
0‑L | 131 | Budd-Chiari syndrome | ORPHAnet
0‑L | 132 | Butyrylcholinesterase deficiency | ORPHAnet
0‑L | 133 | Chronic beryllium disease | ORPHAnet
0‑L | 134 | Beta-ketothiolase deficiency | ORPHAnet
0‑L | 135 | CACH syndrome | ORPHAnet
0‑L | 136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | ORPHAnet
0‑L | 138 | CHARGE syndrome | ORPHAnet
0‑L | 139 | CHILD syndrome | ORPHAnet
0‑L | 140 | Campomelic dysplasia | ORPHAnet
0‑L | 141 | Canavan disease | ORPHAnet
0‑L | 142 | Anaplastic thyroid carcinoma | ORPHAnet
0‑L | 143 | Parathyroid carcinoma | ORPHAnet
0‑L | 144 | Lynch syndrome | ORPHAnet
0‑L | 145 | Hereditary breast and ovarian cancer syndrome | ORPHAnet
0‑L | 146 | Differentiated thyroid carcinoma | ORPHAnet
0‑L | 147 | Carbamoyl-phosphate synthetase 1 deficiency | ORPHAnet
0‑L | 150 | Nasopharyngeal carcinoma | ORPHAnet
0‑L | 154 | Familial isolated dilated cardiomyopathy | ORPHAnet
0‑L | 156 | Carnitine palmitoyl transferase 1A deficiency | ORPHAnet
0‑L | 157 | Carnitine palmitoyltransferase II deficiency | ORPHAnet
0‑L | 158 | Systemic primary carnitine deficiency | ORPHAnet
0‑L | 159 | Carnitine-acylcarnitine translocase deficiency | ORPHAnet
0‑L | 160 | Castleman disease | ORPHAnet
0‑L | 162 | Cataract-glaucoma syndrome | ORPHAnet
0‑L | 163 | Hereditary hyperferritinemia-cataract syndrome | ORPHAnet
0‑L | 167 | Chédiak-Higashi syndrome | ORPHAnet
0‑L | 168 | Loose anagen syndrome | ORPHAnet
0‑L | 169 | Ringed hair disease | ORPHAnet
0‑L | 170 | Woolly hair | ORPHAnet
0‑L | 171 | Primary sclerosing cholangitis | ORPHAnet
0‑L | 172 | Progressive familial intrahepatic cholestasis | ORPHAnet
0‑L | 173 | Cholera | ORPHAnet
0‑L | 174 | Metaphyseal chondrodysplasia, Schmid type | ORPHAnet
0‑L | 175 | Cartilage-hair hypoplasia | ORPHAnet
0‑L | 177 | Rhizomelic chondrodysplasia punctata | ORPHAnet
0‑L | 178 | Chordoma | ORPHAnet
0‑L | 179 | Birdshot chorioretinopathy | ORPHAnet
0‑L | 180 | Choroideremia | ORPHAnet
0‑L | 181 | X-linked hypohidrotic ectodermal dysplasia | ORPHAnet
0‑L | 182 | Chromomycosis | ORPHAnet
0‑L | 183 | Eosinophilic granulomatosis with polyangiitis | ORPHAnet
0‑L | 184 | Cherubism | ORPHAnet
0‑L | 185 | Scimitar syndrome | ORPHAnet
0‑L | 186 | Primary biliary cholangitis | ORPHAnet
0‑L | 188 | Systemic capillary leak syndrome | ORPHAnet
0‑L | 189 | Hidrotic ectodermal dysplasia | ORPHAnet
0‑L | 190 | Coats disease | ORPHAnet
0‑L | 191 | Cockayne syndrome | ORPHAnet
0‑L | 192 | Coffin-Lowry syndrome | ORPHAnet
0‑L | 193 | Cohen syndrome | ORPHAnet
0‑L | 195 | Cat-eye syndrome | ORPHAnet
0‑L | 198 | Occipital horn syndrome | ORPHAnet
0‑L | 199 | Cornelia de Lange syndrome | ORPHAnet
0‑L | 200 | Isolated corpus callosum agenesis | ORPHAnet
0‑L | 201 | Cowden syndrome | ORPHAnet
0‑L | 202 | Crandall syndrome | ORPHAnet
0‑L | 204 | Sporadic Creutzfeldt-Jakob disease | ORPHAnet
0‑L | 205 | Crigler-Najjar syndrome | ORPHAnet
0‑L | 207 | Crouzon syndrome | ORPHAnet
0‑L | 210 | Cyclosporosis | ORPHAnet
0‑L | 211 | Familial cylindromatosis | ORPHAnet
0‑L | 212 | Cystathioninuria | ORPHAnet
0‑L | 213 | Cystinosis | ORPHAnet
0‑L | 214 | Cystinuria | ORPHAnet
0‑L | 215 | Congenital stationary night blindness | ORPHAnet
0‑L | 217 | Isolated Dandy-Walker malformation | ORPHAnet
0‑L | 218 | Darier disease | ORPHAnet
0‑L | 219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | ORPHAnet
0‑L | 220 | Denys-Drash syndrome | ORPHAnet
0‑L | 221 | Dermatomyositis | ORPHAnet
0‑L | 222 | Erosive pustular dermatosis of the scalp | ORPHAnet
0‑L | 223 | Nephrogenic diabetes insipidus | ORPHAnet
0‑L | 225 | Maternally-inherited diabetes and deafness | ORPHAnet
0‑L | 226 | Dihydropteridine reductase deficiency | ORPHAnet
0‑L | 227 | Diphallia | ORPHAnet
0‑L | 229 | Familial aortic dissection | ORPHAnet
0‑L | 230 | Dopamine beta-hydroxylase deficiency | ORPHAnet
0‑L | 231 | Dracunculiasis | ORPHAnet
0‑L | 232 | Sickle cell anemia | ORPHAnet
0‑L | 233 | Duane retraction syndrome | ORPHAnet
0‑L | 234 | Dubin-Johnson syndrome | ORPHAnet
0‑L | 235 | Dubowitz syndrome | ORPHAnet
0‑L | 236 | Trisomy 9p | ORPHAnet
0‑L | 237 | Duplication of urethra | ORPHAnet
0‑L | 238 | Digestive duplication | ORPHAnet
0‑L | 239 | Dyggve-Melchior-Clausen disease | ORPHAnet
0‑L | 240 | Léri-Weill dyschondrosteosis | ORPHAnet
0‑L | 241 | Dyschromatosis universalis hereditaria | ORPHAnet
0‑L | 242 | 46,XY complete gonadal dysgenesis | ORPHAnet
0‑L | 243 | 46,XX gonadal dysgenesis | ORPHAnet
0‑L | 244 | Primary ciliary dyskinesia | ORPHAnet
0‑L | 245 | Nager syndrome | ORPHAnet
0‑L | 246 | Postaxial acrofacial dysostosis | ORPHAnet
0‑L | 248 | Autosomal recessive hypohidrotic ectodermal dysplasia | ORPHAnet
0‑L | 249 | Fibrous dysplasia of bone | ORPHAnet
0‑L | 256 | Early-onset generalized limb-onset dystonia | ORPHAnet
0‑L | 257 | Epidermolysis bullosa simplex with muscular dystrophy | ORPHAnet
0‑L | 258 | Laminin subunit alpha 2-related congenital muscular dystrophy | ORPHAnet
0‑L | 261 | Emery-Dreifuss muscular dystrophy | ORPHAnet
0‑L | 266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | ORPHAnet
0‑L | 267 | Calpain-3-related limb-girdle muscular dystrophy R1 | ORPHAnet
0‑L | 268 | Dysferlin-related limb-girdle muscular dystrophy R2 | ORPHAnet
0‑L | 269 | Facioscapulohumeral dystrophy | ORPHAnet
0‑L | 270 | Oculopharyngeal muscular dystrophy | ORPHAnet
0‑L | 272 | Congenital muscular dystrophy, Fukuyama type | ORPHAnet
0‑L | 273 | Steinert myotonic dystrophy | ORPHAnet
0‑L | 274 | Bernard-Soulier syndrome | ORPHAnet
0‑L | 275 | Severe combined immunodeficiency due to DCLRE1C deficiency | ORPHAnet
0‑L | 276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | ORPHAnet
0‑L | 277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | ORPHAnet
0‑L | 280 | Wolf-Hirschhorn syndrome | ORPHAnet
0‑L | 281 | Monosomy 5p | ORPHAnet
0‑L | 283 | Demodicidosis | ORPHAnet
0‑L | 284 | Alveolar echinococcosis | ORPHAnet
0‑L | 285 | Hypermobile Ehlers-Danlos syndrome | ORPHAnet
0‑L | 286 | Vascular Ehlers-Danlos syndrome | ORPHAnet
0‑L | 287 | Classical Ehlers-Danlos syndrome | ORPHAnet
0‑L | 288 | Hereditary elliptocytosis | ORPHAnet
0‑L | 289 | Ellis Van Creveld syndrome | ORPHAnet
0‑L | 290 | Congenital rubella syndrome | ORPHAnet
0‑L | 291 | Congenital varicella syndrome | ORPHAnet
0‑L | 292 | Congenital enterovirus infection | ORPHAnet
0‑L | 293 | Congenital herpes simplex virus infection | ORPHAnet
0‑L | 294 | Fetal cytomegalovirus syndrome | ORPHAnet
0‑L | 295 | Fetal parvovirus syndrome | ORPHAnet
0‑L | 296 | Ollier disease | ORPHAnet
0‑L | 297 | Tick-borne encephalitis | ORPHAnet
0‑L | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | ORPHAnet
0‑L | 300 | Bifunctional enzyme deficiency | ORPHAnet
0‑L | 302 | Epidermodysplasia verruciformis | ORPHAnet
0‑L | 306 | Benign familial infantile epilepsy | ORPHAnet
0‑L | 307 | Juvenile myoclonic epilepsy | ORPHAnet
0‑L | 308 | Progressive myoclonic epilepsy type 1 | ORPHAnet
0‑L | 312 | Autosomal dominant epidermolytic ichthyosis | ORPHAnet
0‑L | 313 | Lamellar ichthyosis | ORPHAnet
0‑L | 314 | Erythroderma desquamativum | ORPHAnet
0‑L | 315 | Erythrokeratoderma ''en cocardes'' | ORPHAnet
0‑L | 316 | Progressive symmetric erythrokeratodermia | ORPHAnet
0‑L | 317 | Erythrokeratodermia variabilis | ORPHAnet
0‑L | 318 | Acute erythroid leukemia | ORPHAnet
0‑L | 319 | Skeletal Ewing sarcoma | ORPHAnet
0‑L | 320 | Apparent mineralocorticoid excess | ORPHAnet
0‑L | 321 | Multiple osteochondromas | ORPHAnet
0‑L | 322 | Exstrophy-epispadias complex | ORPHAnet
0‑L | 324 | Fabry disease | ORPHAnet
0‑L | 325 | Congenital factor II deficiency | ORPHAnet
0‑L | 326 | Congenital factor V deficiency | ORPHAnet
0‑L | 327 | Congenital factor VII deficiency | ORPHAnet
0‑L | 328 | Congenital factor X deficiency | ORPHAnet
0‑L | 329 | Congenital factor XI deficiency | ORPHAnet
0‑L | 330 | Congenital factor XII deficiency | ORPHAnet
0‑L | 331 | Congenital factor XIII deficiency | ORPHAnet
0‑L | 332 | Congenital intrinsic factor deficiency | ORPHAnet
0‑L | 333 | Farber disease | ORPHAnet
0‑L | 334 | Familial atrial fibrillation | ORPHAnet
0‑L | 335 | Congenital fibrinogen deficiency | ORPHAnet
0‑L | 337 | Fibrodysplasia ossificans progressiva | ORPHAnet
0‑L | 340 | Hemorrhagic fever-renal syndrome | ORPHAnet
0‑L | 342 | Familial Mediterranean fever | ORPHAnet
0‑L | 343 | Hyperimmunoglobulinemia D with periodic fever | ORPHAnet
0‑L | 345 | Dissecting cellulitis of the scalp | ORPHAnet
0‑L | 346 | Quinquaud folliculitis decalvans | ORPHAnet
0‑L | 347 | Frasier syndrome | ORPHAnet
0‑L | 348 | Fructose-1,6-bisphosphatase deficiency | ORPHAnet
0‑L | 349 | Fucosidosis | ORPHAnet
0‑L | 351 | Galactosialidosis | ORPHAnet
0‑L | 353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | ORPHAnet
0‑L | 354 | GM1 gangliosidosis | ORPHAnet
0‑L | 355 | Gaucher disease | ORPHAnet
0‑L | 356 | Gerstmann-Straussler-Scheinker syndrome | ORPHAnet
0‑L | 358 | Gitelman syndrome | ORPHAnet
0‑L | 360 | Glioblastoma | ORPHAnet
0‑L | 361 | Familial glucocorticoid deficiency | ORPHAnet
0‑L | 364 | Glycogen storage disease due to glucose-6-phosphatase deficiency | ORPHAnet
0‑L | 365 | Glycogen storage disease due to acid maltase deficiency | ORPHAnet
0‑L | 366 | Glycogen storage disease due to glycogen debranching enzyme deficiency | ORPHAnet
0‑L | 367 | Glycogen storage disease due to glycogen branching enzyme deficiency | ORPHAnet
0‑L | 368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | ORPHAnet
0‑L | 369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | ORPHAnet
0‑L | 371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | ORPHAnet
0‑L | 373 | Simpson-Golabi-Behmel syndrome | ORPHAnet
0‑L | 375 | Anti-glomerular basement membrane disease | ORPHAnet
0‑L | 376 | Gordon syndrome | ORPHAnet
0‑L | 377 | Gorlin syndrome | ORPHAnet
0‑L | 379 | Chronic granulomatous disease | ORPHAnet
0‑L | 380 | Greig cephalopolysyndactyly syndrome | ORPHAnet
0‑L | 381 | Griscelli syndrome | ORPHAnet
0‑L | 382 | Guanidinoacetate methyltransferase deficiency | ORPHAnet
0‑L | 384 | Huriez syndrome | ORPHAnet
0‑L | 386 | Hepatic cystic hamartoma | ORPHAnet
0‑L | 388 | Hirschsprung disease | ORPHAnet
0‑L | 389 | Langerhans cell histiocytosis | ORPHAnet
0‑L | 390 | Histoplasmosis | ORPHAnet
0‑L | 391 | Classic Hodgkin lymphoma | ORPHAnet
0‑L | 392 | Holt-Oram syndrome | ORPHAnet
0‑L | 393 | 46,XX testicular disorder of sex development | ORPHAnet
0‑L | 394 | Classic homocystinuria | ORPHAnet
0‑L | 395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | ORPHAnet
0‑L | 396 | Chronic hiccup | ORPHAnet
0‑L | 397 | Giant cell arteritis | ORPHAnet
0‑L | 399 | Huntington disease | ORPHAnet
0‑L | 400 | Cystic echinococcosis | ORPHAnet
0‑L | 401 | Hymenolepiasis | ORPHAnet
0‑L | 403 | Familial hyperaldosteronism type I | ORPHAnet
0‑L | 404 | Familial hyperaldosteronism type II | ORPHAnet
0‑L | 405 | Familial hypocalciuric hypercalcemia | ORPHAnet
0‑L | 407 | Glycine encephalopathy | ORPHAnet
0‑L | 408 | Isolated glycerol kinase deficiency | ORPHAnet
0‑L | 409 | Hyperkeratosis lenticularis perstans | ORPHAnet
0‑L | 412 | Dysbetalipoproteinemia | ORPHAnet
0‑L | 414 | Gyrate atrophy of choroid and retina | ORPHAnet
0‑L | 415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ORPHAnet
0‑L | 416 | Primary hyperoxaluria | ORPHAnet
0‑L | 417 | Neonatal severe primary hyperparathyroidism | ORPHAnet
0‑L | 419 | Hyperprolinemia type 1 | ORPHAnet
0‑L | 422 | Idiopathic/heritable pulmonary arterial hypertension | ORPHAnet
0‑L | 423 | Malignant hyperthermia of anesthesia | ORPHAnet
0‑L | 424 | Familial hyperthyroidism due to mutations in TSH receptor | ORPHAnet
0‑L | 425 | Apolipoprotein A-I deficiency | ORPHAnet
0‑L | 427 | Familial hypoaldosteronism | ORPHAnet
0‑L | 428 | Autosomal dominant hypocalcemia | ORPHAnet
0‑L | 429 | Hypochondroplasia | ORPHAnet
0‑L | 432 | Normosmic congenital hypogonadotropic hypogonadism | ORPHAnet
0‑L | 436 | Hypophosphatasia | ORPHAnet
0‑L | 439 | Isolated right ventricular hypoplasia | ORPHAnet
0‑L | 441 | Pure autonomic failure | ORPHAnet
0‑L | 444 | Marie Unna hereditary hypotrichosis | ORPHAnet
0‑L | 446 | Neonatal hemochromatosis | ORPHAnet
0‑L | 447 | Paroxysmal nocturnal hemoglobinuria | ORPHAnet
0‑L | 449 | Hepatoblastoma | ORPHAnet
0‑L | 452 | X-linked lissencephaly with abnormal genitalia | ORPHAnet
0‑L | 454 | Acquired ichthyosis | ORPHAnet
0‑L | 455 | Superficial epidermolytic ichthyosis | ORPHAnet
0‑L | 457 | Harlequin ichthyosis | ORPHAnet
0‑L | 461 | Recessive X-linked ichthyosis | ORPHAnet
0‑L | 464 | Incontinentia pigmenti | ORPHAnet
0‑L | 465 | Congenital plasminogen activator inhibitor type 1 deficiency | ORPHAnet
0‑L | 466 | Fatal familial insomnia | ORPHAnet
0‑L | 469 | Hereditary fructose intolerance | ORPHAnet
0‑L | 470 | Lysinuric protein intolerance | ORPHAnet
0‑L | 472 | Isosporiasis | ORPHAnet
0‑L | 474 | Jeune syndrome | ORPHAnet
0‑L | 475 | Joubert syndrome | ORPHAnet
0‑L | 477 | KID syndrome | ORPHAnet
0‑L | 478 | Kallmann syndrome | ORPHAnet
0‑L | 480 | Kearns-Sayre syndrome | ORPHAnet
0‑L | 481 | Kennedy disease | ORPHAnet
0‑L | 482 | Kimura disease | ORPHAnet
0‑L | 483 | Congenital high-molecular-weight kininogen deficiency | ORPHAnet
0‑L | 485 | Kniest dysplasia | ORPHAnet
0‑L | 486 | Autosomal dominant severe congenital neutropenia | ORPHAnet
0‑L | 487 | Krabbe disease | ORPHAnet
0‑L | 488 | Urachal cyst | ORPHAnet
0‑L | 490 | Omphalomesenteric cyst | ORPHAnet
0‑L | 492 | Proliferating trichilemmal cyst | ORPHAnet
0‑L | 493 | Familial keratoacanthoma | ORPHAnet
0‑L | 494 | Keratoderma hereditarium mutilans | ORPHAnet
0‑L | 495 | Transgrediens et progrediens palmoplantar keratoderma | ORPHAnet
0‑L | 499 | Kerion celsi | ORPHAnet
0‑L | 500 | Noonan syndrome with multiple lentigines | ORPHAnet
0‑L | 501 | Lafora disease | ORPHAnet
0‑L | 502 | Trichorhinophalangeal syndrome type 2 | ORPHAnet
0‑L | 503 | Larsen syndrome | ORPHAnet
0‑L | 504 | Creeping myiasis | ORPHAnet
0‑L | 505 | Graham Little-Piccardi-Lassueur syndrome | ORPHAnet
0‑L | 507 | Leishmaniasis | ORPHAnet
0‑L | 508 | Leprechaunism | ORPHAnet
0‑L | 509 | Leptospirosis | ORPHAnet
0‑L | 510 | Lesch-Nyhan syndrome | ORPHAnet
0‑L | 511 | Maple syrup urine disease | ORPHAnet
0‑L | 512 | Metachromatic leukodystrophy | ORPHAnet
0‑L | 514 | Acute monoblastic/monocytic leukemia | ORPHAnet
0‑L | 517 | Acute myelomonocytic leukemia | ORPHAnet
0‑L | 518 | Acute megakaryoblastic leukemia | ORPHAnet
0‑L | 520 | Acute promyelocytic leukemia | ORPHAnet
0‑L | 521 | Chronic myeloid leukemia | ORPHAnet
0‑L | 523 | Hereditary leiomyomatosis and renal cell cancer | ORPHAnet
0‑L | 524 | Li-Fraumeni syndrome | ORPHAnet
0‑L | 525 | Lichen planopilaris | ORPHAnet
0‑L | 526 | Liddle syndrome | ORPHAnet
0‑L | 528 | Congenital generalized lipodystrophy | ORPHAnet
0‑L | 529 | Roch-Leri mesosomatous lipomatosis | ORPHAnet
0‑L | 530 | Lipoid proteinosis | ORPHAnet
0‑L | 531 | Miller-Dieker syndrome | ORPHAnet
0‑L | 533 | Listeriosis | ORPHAnet
0‑L | 534 | Oculocerebrorenal syndrome of Lowe | ORPHAnet
0‑L | 536 | Systemic lupus erythematosus | ORPHAnet
0‑L | 537 | Toxic epidermal necrolysis | ORPHAnet
0‑L | 538 | Lymphangioleiomyomatosis | ORPHAnet
0‑L | 540 | Familial hemophagocytic lymphohistiocytosis | ORPHAnet
0‑L | 543 | Burkitt lymphoma | ORPHAnet
0‑L | 545 | Follicular lymphoma | ORPHAnet
0‑L | 548 | Leprosy | ORPHAnet
0‑L | 549 | Legionnaires disease | ORPHAnet
0‑L | 550 | MELAS | ORPHAnet
0‑L | 551 | MERRF | ORPHAnet
0‑L | 552 | MODY | ORPHAnet
0‑L | 556 | Malakoplakia | ORPHAnet
0‑L | 558 | Marfan syndrome | ORPHAnet
0‑L | 559 | Marinesco-Sjögren syndrome | ORPHAnet
0‑L | 560 | Marshall syndrome | ORPHAnet
0‑L | 561 | Marshall-Smith syndrome | ORPHAnet
0‑L | 562 | McCune-Albright syndrome | ORPHAnet
0‑L | 563 | Peripartum cardiomyopathy | ORPHAnet
0‑L | 564 | Meckel syndrome | ORPHAnet
0‑L | 565 | Menkes disease | ORPHAnet
0‑L | 566 | Congenital microcoria | ORPHAnet
0‑L | 567 | 22q11.2 deletion syndrome | ORPHAnet
0‑L | 568 | Microphthalmia, Lenz type | ORPHAnet
0‑L | 569 | Familial or sporadic hemiplegic migraine | ORPHAnet
0‑L | 570 | Moebius syndrome | ORPHAnet
0‑L | 572 | Immunodeficiency by defective expression of MHC class II | ORPHAnet
0‑L | 573 | Monilethrix | ORPHAnet
0‑L | 574 | Monosomy 21 | ORPHAnet
0‑L | 575 | Muckle-Wells syndrome | ORPHAnet
0‑L | 576 | Mucolipidosis type II | ORPHAnet
0‑L | 577 | Mucolipidosis type III | ORPHAnet
0‑L | 578 | Mucolipidosis type IV | ORPHAnet
0‑L | 579 | Mucopolysaccharidosis type 1 | ORPHAnet
0‑L | 580 | Mucopolysaccharidosis type 2 | ORPHAnet
0‑L | 581 | Mucopolysaccharidosis type 3 | ORPHAnet
0‑L | 582 | Mucopolysaccharidosis type 4 | ORPHAnet
0‑L | 583 | Mucopolysaccharidosis type 6 | ORPHAnet
0‑L | 584 | Mucopolysaccharidosis type 7 | ORPHAnet
0‑L | 585 | Multiple sulfatase deficiency | ORPHAnet
0‑L | 586 | Cystic fibrosis | ORPHAnet
0‑L | 587 | Muir-Torre syndrome | ORPHAnet
0‑L | 588 | Muscle-eye-brain disease | ORPHAnet
0‑L | 589 | Myasthenia gravis | ORPHAnet
0‑L | 590 | Congenital myasthenic syndrome | ORPHAnet
0‑L | 591 | Furuncular myiasis | ORPHAnet
0‑L | 592 | Macrophagic myofasciitis | ORPHAnet
0‑L | 596 | X-linked centronuclear myopathy | ORPHAnet
0‑L | 597 | Central core disease | ORPHAnet
0‑L | 598 | Multiminicore myopathy | ORPHAnet
0‑L | 600 | Vocal cord and pharyngeal distal myopathy | ORPHAnet
0‑L | 602 | GNE myopathy | ORPHAnet
0‑L | 603 | Distal myopathy, Welander type | ORPHAnet
0‑L | 606 | Proximal myotonic myopathy | ORPHAnet
0‑L | 609 | Tibial muscular dystrophy | ORPHAnet
0‑L | 610 | Bethlem myopathy | ORPHAnet
0‑L | 611 | Inclusion body myositis | ORPHAnet
0‑L | 614 | Thomsen and Becker disease | ORPHAnet
0‑L | 615 | Familial atrial myxoma | ORPHAnet
0‑L | 616 | Medulloblastoma | ORPHAnet
0‑L | 617 | Congenital primary megaureter | ORPHAnet
0‑L | 618 | Familial melanoma | ORPHAnet
0‑L | 621 | Hereditary methemoglobinemia | ORPHAnet
0‑L | 622 | Homocystinuria without methylmalonic aciduria | ORPHAnet
0‑L | 624 | Familial multiple nevi flammei | ORPHAnet
0‑L | 626 | Large congenital melanocytic nevus | ORPHAnet
0‑L | 627 | Nance-Horan syndrome | ORPHAnet
0‑L | 628 | Diastrophic dysplasia | ORPHAnet
0‑L | 629 | Short stature due to growth hormone qualitative anomaly | ORPHAnet
0‑L | 631 | Non-acquired isolated growth hormone deficiency | ORPHAnet
0‑L | 632 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | ORPHAnet
0‑L | 633 | Laron syndrome | ORPHAnet
0‑L | 634 | Netherton syndrome | ORPHAnet
0‑L | 635 | Neuroblastoma | ORPHAnet
0‑L | 636 | Neurofibromatosis type 1 | ORPHAnet
0‑L | 637 | Neurofibromatosis type 2 | ORPHAnet
0‑L | 638 | Neurofibromatosis-Noonan syndrome | ORPHAnet
0‑L | 639 | Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG | ORPHAnet
0‑L | 640 | Hereditary neuropathy with liability to pressure palsies | ORPHAnet
0‑L | 641 | Multifocal motor neuropathy | ORPHAnet
0‑L | 642 | Hereditary sensory and autonomic neuropathy type 4 | ORPHAnet
0‑L | 643 | Giant axonal neuropathy | ORPHAnet
0‑L | 644 | NARP syndrome | ORPHAnet
0‑L | 646 | Niemann-Pick disease type C | ORPHAnet
0‑L | 647 | Nijmegen breakage syndrome | ORPHAnet
0‑L | 648 | Noonan syndrome | ORPHAnet
0‑L | 649 | Norrie disease | ORPHAnet
0‑L | 650 | LCAT deficiency | ORPHAnet
0‑L | 652 | Multiple endocrine neoplasia type 1 | ORPHAnet
0‑L | 653 | Multiple endocrine neoplasia type 2 | ORPHAnet
0‑L | 654 | Nephroblastoma | ORPHAnet
0‑L | 655 | Nephronophthisis | ORPHAnet
0‑L | 656 | Genetic steroid-resistant nephrotic syndrome | ORPHAnet
0‑L | 659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | ORPHAnet
0‑L | 660 | Omphalocele | ORPHAnet
0‑L | 661 | Congenital central hypoventilation syndrome | ORPHAnet
0‑L | 662 | Yellow nail syndrome | ORPHAnet
0‑L | 663 | Mitochondrial DNA-related progressive external ophthalmoplegia | ORPHAnet
0‑L | 664 | Ornithine transcarbamylase deficiency | ORPHAnet
0‑L | 666 | Osteogenesis imperfecta | ORPHAnet
0‑L | 667 | Autosomal recessive malignant osteopetrosis | ORPHAnet
0‑L | 668 | Osteosarcoma | ORPHAnet
0‑L | 672 | Pallister-Hall syndrome | ORPHAnet
0‑L | 673 | Malaria | ORPHAnet
0‑L | 674 | Accessory pancreas | ORPHAnet
0‑L | 675 | Annular pancreas | ORPHAnet
This value set has 7226 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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