Hirschsprung disease

ICD-11 code : LB16.1;

Preferred Label : Hirschsprung disease;

ICD-11 definition : This is a developmental anomaly affecting the intestinal tract characterized by congenital absence of myenteric ganglion cells (aganglionosis) in a segment of the large bowel. Due to the absence of intrinsic innervation of the muscle layers of the affected segment, there is a loss of motor function. This results in an abnormally large or dilated colon (congenital megacolon) with intestinal occlusion or constipation. This condition becomes evident shortly after birth.;

ICD-11 synonym : bowel aganglionosis; Hirschsprung megacolon; congenital aganglionic megacolon; colonic aganglionosis; pelvirectal achalasia; Aganglionic megacolon; aganglionosis; congenital megacolon; colon aganglionosis; aganglionosis of colon;

Details

Origin ID

1772690306;

UMLS CUI

C0019569;

Automatic exact mappings (from CISMeF team)
- Acquired megacolon (disorder) [SNOMED CT concept]
- Aganglionosis [MedDRA LLT]
- Aganglionosis of colon (disorder) [SNOMED CT concept]
- Aganglionosis of large intestine (disorder) [SNOMED CT concept]
- 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]
- Pelvirectal achalasia [MedDRA LLT]
- Short segment Hirschsprung's disease (disorder) [SNOMED CT concept]
- Total intestinal aganglionosis (disorder) [SNOMED CT concept]
- aganglionosis, colonic [MeSH concept]
- megacolon, not hirschsprung's [SNOMED Notion]
Currated CISMeF NLP mapping
- Aganglionic megacolon [HPO term]
- Aganglionic megacolon [MedDRA LLT]
- Aganglionosis [PASCAL descriptor]
- Congenital aganglionic megacolon (disorder) [SNOMED CT concept]
- Congenital dilatation of colon (disorder) [SNOMED CT concept]
- Congenital megacolon [MedDRA Preferred Term]
- Hirschsprung Disease [NCIt concept]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [Artificial nutrition thesaurus concept]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprung's disease [ICD-10 Sub-category]
- Hirschsprungs disease [ICD-10 Sub-category (who)]
- MEGACOLON CONGENITAL [WHO-ART Preferred Term]
- Megacolon congenital [MedDRA LLT]
- congenital aganglionosis of colon [Radlex concept]
- hirschsprung disease [MeSH concept]
- hirschsprung disease [MeSH Descriptor]
- hirschsprung's disease [SNOMED Notion]
ICD-10 Mapping
- Hirschsprung's disease [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aganglionic megacolon [HPO term]
- Aganglionic megacolon [MedDRA LLT]
- 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's disease [DO Concept]
- Hirschsprung's disease [ICD-10 Sub-category]
- Hirschsprung's disease [MedDRA LLT]
- 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]

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