Total Colonic Aganglionosis

Preferred Label : Total Colonic Aganglionosis;

NCIt synonyms : TCA;

NCIt definition : The severe form of Hirschsprung disease, this is characterized by a complete lack of nerve cells in the large intestine, and often a partial lack in the small intestine. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary.;

Details

Origin ID

C101040;

UMLS CUI

C0085758;

Automatic exact mappings (from CISMeF team)
- Feeding and Eating Disorders [MeSH Descriptor]
- Hla-g histocompatibility antigen, class I [OMIM gene]
- hirschsprung disease [MeSH Descriptor]
- partial thromboplastin time [MeSH Descriptor]
Currated CISMeF NLP mapping
- Total colonic aganglionosis [HPO term]
- Total colonic aganglionosis (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Intestine [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Aganglionosis of colon (disorder) [SNOMED CT concept]
- Total colonic aganglionosis [HPO term]
- Total colonic aganglionosis (disorder) [SNOMED CT concept]
- aganglionosis, colonic [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]

Keyword's position in hierarchy(ies) :

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