Hirschsprung Disease

Preferred Label : Hirschsprung Disease;

NCIt synonyms : Hirschsprung's Disease; Aganglionic Megacolon;

NCIt definition : A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon.;

Details

Origin ID

C34700;

UMLS CUI

C0019569;

Automatic exact mappings (from CISMeF team)
- Hirschsprung disease [OMIM phenotypic series]
- Hirschsprung disease 1 [MeSH concept]
- 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]
- hirschsprung disease 1 [MeSH Supplementary Concept]
CISMeF manual mappings
- Macrocolon (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aganglionic megacolon [HPO term]
- Aganglionic megacolon [MedDRA LLT]
- Congenital aganglionic megacolon (disorder) [SNOMED CT concept]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [ICD-11 Subcategory]
- Hirschsprung disease [Artificial nutrition thesaurus concept]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung's disease [ICD-10 Sub-category]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprungs disease [ICD-10 Sub-category (who)]
- congenital aganglionosis of colon [Radlex concept]
- congenital megacolon [Disease (Nov.)]
- hirschsprung disease [MeSH Descriptor]
- hirschsprung disease [MeSH concept]
- hirschsprung's disease [SNOMED Notion]
DO Cross reference
- Hirschsprung's disease [DO Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Intestine [NCIt concept]
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 [ORDO Disease]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [ICD-11 Subcategory]
- Hirschsprung's disease [ICD-10 Sub-category]
- Hirschsprung's disease [DO Concept]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprungs disease [ICD-10 Sub-category (who)]
- MEGACOLON CONGENITAL [WHO-ART Preferred Term]
- Macrocolon (disorder) [SNOMED CT concept]
- Megacolon congenital [MedDRA LLT]
- Pelvirectal achalasia [MedDRA LLT]
- hirschsprung disease [MeSH concept]
- hirschsprung disease [MeSH Descriptor]
- hirschsprung's disease [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_gene
- GDNF Gene [NCIt concept]
- GDNF wt Allele [NCIt concept]
- NRTN Gene [NCIt concept]
- NRTN wt Allele [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]

Keyword's position in hierarchy(ies) :

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