TIA
MCID: HRS001
MIFTS: 72

Hirschsprung's Disease (TIA) malady

Gastrointestinal, Fetal categories

Summaries for Hirschsprung's Disease

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Hirschsprung disease is a disease of the large intestine or colon. people with this disease do not have the nerve cells in the intestine required to expel stools from the body normally. symptoms of hirschsprung disease usually show up in very young children, but sometimes not until adolescence or adulthood. the symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. last updated: 10/17/2013

MalaCards: Hirschsprung's Disease, also known as hirschsprung disease, is related to multiple endocrine neoplasia and waardenburg's syndrome, and has symptoms including dolichocolon/megacolon/megadolichocolon/hirschsprung's disease, functional anomalies of the digestive system and nausea/vomiting/regurgitation/merycism/hyperemesis. An important gene associated with Hirschsprung's Disease is RET (ret proto-oncogene), and among its related pathways are Development EGFR signaling pathway and Axon guidance. The compounds tyrosine and dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:8 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Genetics Home Reference:21 Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.

Description from OMIM:47 202550, 142623, 613712, 613711, 600155 600156, 606874, 606875, 608462, 611644 more

GeneReviews summary for hirschsprung-ov

Aliases & Classifications for Hirschsprung's Disease

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Gastrointestinal


Characteristics (Orphanet epidemiological data):

49
hirschsprung disease:
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

hirschsprung's disease 8 43 21
hirschsprung disease 8 19 20 22 21 45 49 61
aganglionic megacolon 8 19 43 21 49
hscr 19 43 21 49
hirschsprung disease 1 43 47 61
congenital intestinal aganglionosis 21 49
aganglionosis, total intestinal 8 43
hirschsprung disease type 1 43 22
congenital megacolon 8 21
near-total intestinal aganglionosis 43
rare form of hirschsprung's disease 43
total intestinal aganglionosis 45
aganglionosis, total colonic 43
hirschsprungs disease 10
pelvirectal achalasia 8
aganglionosis 8
macrocolon 8
hscr 1 43
ntia 43
tia 43


External Ids:

Disease Ontology8 DOID:10487
MeSH35 D006627
NCIt40 C34700
MESH via Orphanet36 D006627
ICD10 via Orphanet26 Q43.1
SNOMED-CT via Orphanet58 204739008, 360436002
UMLS via Orphanet62 C0019569
ICD1025 Q43.1

Related Diseases for Hirschsprung's Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hirschsprung's Disease family:

hirschsprung disease type 3 hirschsprung disease type 2
hirschsprung disease 6 hirschsprung disease 9
hirschsprung disease 5 hirschsprung disease 8
hirschsprung disease 7 hirschsprung disease 4

Diseases related to Hirschsprung's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1multiple endocrine neoplasia30.6GDNF, RET
2waardenburg's syndrome30.4RET, EDN3, EDNRB, SOX10
3central hypoventilation syndrome30.4GDNF
4central hypoventilation syndrome, congenital, with or without hirschsprung disease30.4RET, PHOX2B
5thyroid medullary carcinoma30.4GDNF, RET, GFRA1
6microcephaly30.4ZEB2
7waardenburg syndrome type 430.3RET, EDN3, EDNRB, SOX10
8familial medullary thyroid carcinoma30.1GDNF
9renal agenesis29.9GFRA1, RET, GDNF
10wilms tumor29.9GDNF, CALB2
11transient cerebral ischemia10.6
12mowat-wilson syndrome10.5
13mini stroke10.5
14stroke, ischemic10.5
15n syndrome10.4
16congenital central hypoventilation syndrome10.4
17hirschsprung disease type 310.4
18hirschsprung disease ganglioneuroblastoma10.4
19hirschsprung disease type 210.4
20hirschsprung disease type d brachydactyly10.3
21mental retardation10.3
22wilson disease10.3
23hirschsprung disease polydactyly heart disease10.3
24smith-lemli-opitz syndrome10.3
25micro syndrome10.3
26santos mateus leal syndrome10.3
27peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease10.3
28moyamoya disease10.2
29carotid stenosis10.2
30shprintzen-goldberg syndrome10.2
31hirschsprung disease 910.2
32hirschsprung disease 410.2
33mowat-wilson syndrome due to monosomy 2q2210.2
34patent foramen ovale10.2
35fabry disease10.2
36fecal incontinence10.1
37bardet-biedl syndrome10.1
38coloboma10.1
39lissencephaly10.1
40polydactyly10.1
41imperforate anus10.1
42anus disease10.1
43char syndrome10.1
44hirschsprung nail hypoplasia dysmorphism10.1
45waardenburg syndrome type iva10.1
46ret-related hirschsprung disease10.1
47nrtn-related hirschsprung disease10.1
48gdnf-related hirschsprung disease10.1
49ednrb-related hirschsprung disease10.1
50edn3-related hirschsprung disease10.1

Graphical network of the top 20 diseases related to Hirschsprung's Disease:



Diseases related to hirschsprung's disease

Clinical Features for Hirschsprung's Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

202550,142623,613712,613711,600155,600156,606874,606875,608462,611644

Clinical synopsis from OMIM:

142623

Symptoms:

49 (show all 17)
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • functional anomalies of the digestive system
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • constipation
  • intestinal obstruction/ileus
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • sensorineural deafness/hearing loss
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • polyposis of the bowel/colon/intestine
  • acute diarrhea
  • intestinal perforation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • thyroid neoplasm/tumor/carcinoma/cancer
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • sepsis severe/septicemia

Drugs & Therapeutics for Hirschsprung's Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hirschsprung's Disease

Drug clinical trials:

Search ClinicalTrials for Hirschsprung's Disease

Search NIH Clinical Center for Hirschsprung's Disease

Search CenterWatch for Hirschsprung's Disease

Genetic Tests for Hirschsprung's Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hirschsprung's Disease:

id Genetic test Affiliating Genes
1 Hirschsprung Disease20 RET
2 Hirschsprung Disease 122
3 Hirschsprung's Disease22

Anatomical Context for Hirschsprung's Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hirschsprung's Disease:

33
Brain, Heart, Smooth muscle, Small intestine, Colon, Kidney, Thyroid, Skin, B cells, Fetal brain, Fetal thyroid, Pituitary

Animal Models for Hirschsprung's Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hirschsprung's Disease

Sources:
51PubMed
See all sources

Articles related to Hirschsprung's Disease:

(show top 50)    (show all 439)
idTitleAuthorsYear
1
A prospective observational study of associated anomalies in Hirschsprung's disease. (24267509)
2013
2
Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis. (23480925)
2013
3
Long-term outcomes and quality of life after subtotal colectomy combined with modified Duhamel procedure for adult Hirschsprung's disease. (24232173)
2013
4
Effects of potato-derived protease inhibitors on perianal dermatitis after colon resection for long-segment Hirschsprung's disease. (22573429)
2012
5
SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China. (22184102)
2012
6
Hirschsprung's disease in adults presenting as sigmoid volvulus: a report of three cases. (22696926)
2011
7
Semaphorin 3A expression in the colon of Hirschsprung disease. (21656899)
2011
8
A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood. (20725836)
2010
9
Internal sphincter myectomy for adult Hirschsprung's disease: a single institute experience. (20718166)
2010
10
Systematic review and meta-analysis of enterocolitis after one-stage transanal pull-through procedure for Hirschsprung's disease. (20711596)
2010
11
Genomics approach to the analysis of bacterial communities dynamics in Hirschsprung's disease-associated enterocolitis: a pilot study. (20306059)
2010
12
Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene. (20583168)
2010
13
A novel corrective pullthrough surgery in a mouse model of Hirschsprung's disease. (19361637)
2009
14
Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. (19282698)
2009
15
A new modification of transanal Swenson pull-through procedure for Hirschsprung's disease. (19102961)
2008
16
Megacolon in an adult case of hypoganglionosis, a pseudo-Hirschsprung's disease: an autopsy study. (18310975)
2008
17
The effect of dilated ganglionic segment on anorectal and urinary functions during 1-stage transanal endorectal pull through for Hirschsprung's disease. (17618894)
2007
18
Long-term continence after surgery for Hirschsprung's disease. (18031392)
2007
19
Genetic analysis of RET, EDNRB, and EDN3 genes and three SNPs in MCS + 9.7 in Chinese Patients with isolated Hirschsprung disease. (17554617)
2007
20
Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. (18022449)
2007
21
Long-term continence in patients with Hirschsprung's disease and Down syndrome. (16677164)
2006
22
New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea. (17011274)
2006
23
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. (16816022)
2006
24
Adult Hirschsprung's disease presenting as sigmoid volvulus: a case report and review of literature. (16969608)
2006
25
A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes. (17108762)
2006
26
IPEG Guidelines for surgical treatment of Hirschsprung's disease. (15772488)
2005
27
Stooling patterns and colonic motility after transanal one-stage pull-through operation for Hirschsprung's disease in children. (16291167)
2005
28
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. (15548547)
2005
29
Diagnosis of Hirschsprung's disease: a prospective, comparative accuracy study of common tests. (15973319)
2005
30
Stem cell defects as a possible cause of Hirschsprung's disease. (15057763)
2004
31
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. (14633923)
2004
32
Laparoscopic-assisted approaches for the definitive surgery for Hirschsprung's disease. (15660319)
2004
33
Submucosal pressure-air insufflation facilitates endorectal mucosectomy in transanal endorectal pull-through procedure in patients with Hirschsprung's disease. (12596100)
2003
34
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. (11891681)
2002
35
Glial cell line-derived neurotrophic factor family receptors are abnormally expressed in aganglionic bowel of a subpopulation of patients with Hirschsprung's disease. (12065680)
2002
36
Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. (11484199)
2001
37
Hirschsprung disease associated with severe cartilage-hair hypoplasia. (11391344)
2001
38
Cell-adhesion molecules and fibroblast growth factor signalling in Hirschsprung's disease. (11409166)
2001
39
Decreased tyrosine kinase C expression may reflect developmental abnormalities in Hirschsprung's disease and idiopathic slow-transit constipation. (11298623)
2001
40
Modification of the acetylcholinesterase (AchE) staining method in Hirschsprung's disease. (11075979)
2000
41
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. (10532174)
1999
42
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. (10090908)
1999
43
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. (9384613)
1998
44
Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. (9094028)
1997
45
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease. (9067749)
1997
46
Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report. (8783095)
1996
47
A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3. (7634536)
1995
48
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus. (7815416)
1994
49
Immunohistochemical studies using synaptophysin in intestinal biopsies in Hirschsprung disease]. (1477081)
1992
50
Delayed presentation of Hirschsprung's disease: acute obstruction secondary to megacolon with transverse colonic volvulus. (2273435)
1990

Genetic Variations for Hirschsprung's Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hirschsprung's Disease:

63 (show all 67)
id Symbol AA change Variation SNP ID
1RETp.Ser32LeuVAR_006295rs76764689
2RETp.Pro64LeuVAR_006296rs77596424
3RETp.Cys142SerVAR_006298
4RETp.Arg231HisVAR_006299rs79661516
5RETp.Glu251LysVAR_006300
6RETp.Arg287GlnVAR_006301
7RETp.Arg330GlnVAR_006302rs80236571
8RETp.Phe393LeuVAR_006303rs78098482
9RETp.Pro399LeuVAR_006304
10RETp.Arg475GlnVAR_006305rs138624658
11RETp.Cys609TyrVAR_006306rs77939446
12RETp.Cys609TrpVAR_006307
13RETp.Cys618ArgVAR_006311rs76262710
14RETp.Cys618SerVAR_006313rs79781594
15RETp.Cys620ArgVAR_006316
16RETp.Ser690ProVAR_006331
17RETp.Ser767ArgVAR_006334
18RETp.Arg873GlnVAR_006338
19RETp.Phe893LeuVAR_006339
20RETp.Arg897GlnVAR_006340rs76087194
21RETp.Lys907GluVAR_006341
22RETp.Glu921LysVAR_006343
23RETp.Arg972GlyVAR_006346rs76534745
24RETp.Pro973LeuVAR_006347
25RETp.Met980ThrVAR_006348
26RETp.Pro20LeuVAR_009459
27RETp.Arg77CysVAR_009460
28RETp.Phe174SerVAR_009462
29RETp.Arg180ProVAR_009463
30RETp.Cys197TyrVAR_009464
31RETp.Arg313GlnVAR_009465rs77702891
32RETp.Arg360TrpVAR_009467
33RETp.Asn394LysVAR_009468
34RETp.Cys620TrpVAR_009475
35RETp.Gln626LysVAR_009476
36RETp.Glu762GlnVAR_009481
37RETp.Tyr791PheVAR_009483rs77724903
38RETp.Arg813GlnVAR_009484
39RETp.Leu1061ProVAR_009490
40RETp.Met1064ThrVAR_009491
41RETp.Leu40ProVAR_009492
42RETp.Ser765ProVAR_009493rs75075748
43RETp.Arg114HisVAR_018154
44RETp.Val145GlyVAR_035711
45RETp.Arg114CysVAR_067101
46RETp.Pro155LeuVAR_067102
47RETp.Arg175ProVAR_067103
48RETp.Thr278AlaVAR_067104
49RETp.Thr278ProVAR_067105
50RETp.Asp300AsnVAR_067106
51RETp.Ser316IleVAR_067107
52RETp.Ser339LeuVAR_067108
53RETp.Asp353TyrVAR_067109
54RETp.Arg360GlnVAR_067110
55RETp.Val397MetVAR_067111rs183729115
56RETp.Val412MetVAR_067112
57RETp.Gly423ArgVAR_067113
58RETp.Glu480LysVAR_067114
59RETp.Glu595GlnVAR_067116
60RETp.Pro679LeuVAR_067117
61RETp.Arg694GlnVAR_067118rs141185224
62RETp.Asn783SerVAR_067119
63RETp.Gly830ArgVAR_067120rs200127630
64RETp.Lys907ThrVAR_067121
65RETp.Phe961LeuVAR_067122
66RETp.Leu1052ValVAR_067123
67RETp.Tyr1062CysVAR_067124

Expression for genes affiliated with Hirschsprung's Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hirschsprung's Disease

Search GEO for disease gene expression data for Hirschsprung's Disease.

Pathways for genes affiliated with Hirschsprung's Disease

Sources:
12EMD Millipore, 52QIAGEN, 54Reactome, 38NCBI BioSystems Database, 56SinoBiological
See all sources

Pathways related to Hirschsprung's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6GFRA1, RET, GDNF, NRTN, PSPN
2
Hide members
10.5L1CAM, PSPN, NRTN, GDNF
3
Hide members
10.5PSPN, NRTN, GDNF, GFRA1
4
G-protein signaling H-RAS regulation pathway
Hide members
10.5GDNF, RET, GFRA1
510.5GFRA1, RET, GDNF
610.5GFRA1, GDNF, NRTN

Compounds for genes affiliated with Hirschsprung's Disease

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1tyrosine4511.0CALB2, L1CAM, PSPN, PHOX2B, EDNRB, EDN3
2dopamine45 29 11 2414.0ACHE, CALB2, PSPN, PHOX2B, EDN3, NRTN
3glutamate4511.0CALB2, L1CAM, PSPN, EDNRB, EDN3, NRTN
4acetylcholine45 50 29 11 2414.9CALB2, EDNRB, EDN3, NRTN, BLVRB, GDNF
5choline45 11 2412.9CALB2, NRTN, BLVRB, GDNF, RET, ACHE
6phosphoramidon45 1111.9EDNRB, EDN3, ECE1
7heparan sulfate45 2411.9NRTN, GDNF, RET, GFRA1
8pd 1428934510.9EDNRB, EDN3
9bq6104510.9EDNRB, EDN3
10bq 302045 2911.9EDNRB, EDN3
11tezosentan4510.8EDNRB, EDN3
12irl 162045 2911.8EDNRB, EDN3
13nitric oxide45 11 2412.8GDNF, BLVRB, ECE1, EDN3, EDNRB, CALB2
14fr13931745 2911.8EDNRB, EDN3
15sarafotoxin4510.8EDNRB, EDN3
166-hydroxydopamine4510.8GDNF, NRTN, PSPN
17bq78845 2911.8EDNRB, EDN3
18indomethacin45 60 29 1113.8BLVRB, ECE1, EDN3, EDNRB
19bq12345 2911.8EDNRB, EDN3
20melatonin45 60 29 11 2414.7CALB2, EDNRB, GDNF
21bosentan45 1111.7EDN3, EDNRB
22norepinephrine45 11 2412.7PHOX2B, EDNRB, EDN3, GDNF
23nmda45 2911.7ACHE
24catecholamine4510.6RET, GDNF, BLVRB
25pd 98,0594510.6NRTN, ECE1, GDNF, RET
26vegf4510.6RET, GDNF, ECE1, EDN3, EDNRB
27rasagiline45 1111.5ACHE, GDNF
28potassium45 11 2412.4EDNRB, EDN3, BLVRB, GDNF
29thiorphan45 29 1112.2ECE1, EDN3

GO Terms for genes affiliated with Hirschsprung's Disease

Sources:
16Gene Ontology
See all sources

Biological processes related to Hirschsprung's Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1neural crest cell migrationGO:00175510.9RET, GDNF, NRTN, EDN3, EDNRB, ZEB2
2nervous system developmentGO:00739910.8L1CAM, ZEB2, PSPN, EDNRB, NRTN, GDNF
3enteric nervous system developmentGO:04848410.8SOX10, PHOX2B, EDNRB, GDNF, RET
4posterior midgut developmentGO:00749710.7RET, EDNRB
5melanocyte differentiationGO:03031810.7SOX10, EDNRB, EDN3
6axon guidanceGO:00741110.7L1CAM, PSPN, NRTN, GDNF, GFRA1
7cell surface receptor signaling pathwayGO:00716610.7GFRA1, EDN3, EDNRB, L1CAM
8vein smooth muscle contractionGO:01482610.6EDNRB, EDN3
9regulation of systemic arterial blood pressure by endothelinGO:00310010.6ECE1, EDN3
10vasoconstrictionGO:04231010.5EDN3, EDNRB
11sympathetic nervous system developmentGO:04848510.5GDNF, PHOX2B
12response to painGO:04826510.4EDNRB, RET
13regulation of vasoconstrictionGO:01922910.2ECE1, EDN3

Molecular functions related to Hirschsprung's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00510210.6GFRA1, GDNF, NRTN, EDN3, PSPN

Products for genes affiliated with Hirschsprung's Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hirschsprung's Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet