Value Set eHDSIRareDisease

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

1.3.6.1.4.1.12559.11.10.1.3.1.42.63

Effective Date

2022‑06‑23 15:36:00

Status

Final

Version Label

202206

Name

eHDSIRareDisease

Display Name

eHDSIRareDisease

Description

The Value Set is used to describe the problems and medication reasons.

Usage: 3

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

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.

XML JSON CSV SQL SVS

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