Hirschsprung's disease

Preferred Label : Hirschsprung's disease;

Inclusion CIM-10 : Congenital (aganglionic) megacolon; Aganglionosis;

Diag associé à un acte (%) : 87.9;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q431;

UMLS CUI

C0019569;

Automatic exact mappings (from CISMeF team)
- Aganglionosis [MedDRA LLT]
- Hirschsprung disease [OMIM phenotypic series]
- Hirschsprung disease, susceptibility to, 1 [OMIM Phenotype]
- Hirschsprung's disease [DO Concept]
- Long segment Hirschsprung's disease (disorder) [SNOMED CT concept]
- Short segment Hirschsprung's disease (disorder) [SNOMED CT concept]
CISMeF manual mappings
- Macrocolon (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aganglionic megacolon [HPO term]
- Aganglionosis [PASCAL descriptor]
- Congenital aganglionic megacolon (disorder) [SNOMED CT concept]
- Hirschsprung Disease [NCIt concept]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [ICD-11 Subcategory]
- Hirschsprung disease [Artificial nutrition thesaurus concept]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprungs disease [ICD-10 Sub-category (who)]
- MEGACOLON CONGENITAL [WHO-ART Preferred Term]
- congenital megacolon [Disease (Nov.)]
- hirschsprung disease [MeSH concept]
- hirschsprung disease [MeSH Descriptor]
- hirschsprung's disease [SNOMED Notion]
DO Cross reference
- Hirschsprung's disease [DO Concept]
Excluded by
- Megacolon, not elsewhere classified [ICD-10 Sub-category]
- Transitory ileus of newborn [ICD-10 Sub-category]
Orphanet concepts
- Hirschsprung disease [ORDO Disease]
- Hirschsprung disease-deafness-polydactyly syndrome [ORDO Disease]
- Hirschsprung disease-ganglioneuroblastoma syndrome [ORDO Disease]
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome [ORDO Disease]
- Hirschsprung disease-type D brachydactyly syndrome [ORDO Disease]
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome due to a ZEB2 point mutation [ORDO Disease]
- Mowat-Wilson syndrome due to monosomy 2q22 [ORDO Disease]
- Rare disorder with Hirschsprung disease as a major feature [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aganglionic megacolon [MedDRA LLT]
- Aganglionic megacolon [HPO term]
- Aganglionosis [PASCAL descriptor]
- Aganglionosis [MedDRA LLT]
- Congenital aganglionic megacolon (disorder) [SNOMED CT concept]
- Congenital megacolon [MedDRA Preferred Term]
- Congenital megacolon (disorder) [Inactive SNOMED CT concept]
- Hirschsprung Disease [NCIt concept]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [ICD-11 Subcategory]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprung's disease [DO Concept]
- MEGACOLON CONGENITAL [WHO-ART Preferred Term]
- Macrocolon (disorder) [SNOMED CT concept]
- Megacolon congenital [MedDRA LLT]
- Pelvirectal achalasia [MedDRA LLT]
- hirschsprung disease [MeSH Descriptor]
- hirschsprung disease [MeSH concept]
- hirschsprung's disease [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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