Familial adenomatous polyposis

Preferred Label : Familial adenomatous polyposis;

ICD-11 definition : Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder (a germline mutation in the APC gene) characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients develop colon cancer by age 35-40 years. The risk of development of other malignancies also exists.;

Details

Origin ID

1497254317;

Currated CISMeF NLP mapping
- Adenomatous polyposis coli (morphologic abnormality) [SNOMED CT concept]
- Familial Adenomatous Polyposis [NCIt concept]
- Familial adenomatous polyposis [ORDO Disease]
- Familial adenomatous polyposis [MedDRA LLT]
- Familial adenomatous polyposis [OMIM phenotypic series]
- Familial adenomatous polyposis coli [PASCAL descriptor]
- Familial multiple polyposis syndrome (disorder) [SNOMED CT concept]
- adenomatous polyposis coli [MeSH Descriptor]
- adenomatous polyposis coli [MeSH concept]
- familial adenomatous polyposis [DO Concept]
- familial multiple polyposis syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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