Familial Adenomatous Polyposis

Preferred Label : Familial Adenomatous Polyposis;

NCIt synonyms : Polyposis Coli; APC - Adenomatous Polyposis Coli; Familial Adenomatous Polyposis Syndrome; Familial Adenomatous Polyposis Coli; Hereditary Adenomatous Polyposis Coli; Familial Adenomatous Polyposis 1;

NCIt related terms : familial polyposis; FAP; Adenomatous polyposis coli; Familial polyposis coli;

NCIt definition : An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea.;

Alternative definition : NCI-GLOSS: An inherited condition in which numerous polyps (growths that protrude from mucous membranes) form on the inside walls of the colon and rectum. It increases the risk for colon cancer.;

ICD-O code : 8220/0;

Codes from synonyms : CDR0000045688; CDR0000045100; CDR0000044777;

Details

Origin ID

C3339;

UMLS CUI

C0032580;

Currated CISMeF NLP mapping
- Adenomatous polyposis coli [ICD-O code]
- Adenomatous polyposis coli [ICD-9 code]
- Adenomatous polyposis coli [ICD-11 Extension code]
- Adenomatous polyposis coli [MedDRA Preferred Term]
- Familial adenomatous polyposis [Vue CIM-11]
- Familial adenomatous polyposis [OMIM phenotypic series]
- Familial adenomatous polyposis [TUV Concept]
- Familial adenomatous polyposis [ORDO Disease]
- Familial adenomatous polyposis [MedDRA LLT]
- Familial adenomatous polyposis 1 [OMIM Phenotype]
- Familial adenomatous polyposis coli [PASCAL descriptor]
- Familial multiple polyposis syndrome (disorder) [SNOMED CT concept]
- Familial polyposis [MedDRA LLT]
- Polyposis coli [MedDRA LLT]
- adenomatous polyposis coli [Disease (Nov.)]
- adenomatous polyposis coli [MeSH Descriptor]
- adenomatous polyposis coli [MeSH concept]
- adenomatous polyposis coli [SNOMED Notion]
- familial adenomatous polyposis [DO Concept]
- familial multiple polyposis syndrome [SNOMED Notion]
DO Cross reference
- familial adenomatous polyposis [DO Concept]
Disease may have findings
- Abdominal Pain [NCIt concept]
- Diarrhea [NCIt concept]
- Lower Gastrointestinal Hemorrhage [NCIt concept]
False automatic mappings
- Adenomatous polyposis coli (morphologic abnormality) [SNOMED CT concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Adenomatous polyposis coli [MedDRA Preferred Term]
- Adenomatous polyposis coli [ICD-9 code]
- Adenomatous polyposis coli [ICD-O code]
- Adenomatous polyposis coli (morphologic abnormality) [SNOMED CT concept]
- Familial adenomatous polyposis [MedDRA LLT]
- Familial adenomatous polyposis [ORDO Disease]
- Familial adenomatous polyposis [TUV Concept]
- Familial adenomatous polyposis 1 [OMIM Phenotype]
- Familial multiple polyposis syndrome (disorder) [SNOMED CT concept]
- Familial polyposis [MedDRA LLT]
- MYH-associated polyposis (disorder) [SNOMED CT concept]
- Polyposis coli [MedDRA LLT]
- adenomatous polyposis coli [Disease (Nov.)]
- adenomatous polyposis coli [MeSH Descriptor]
- adenomatous polyposis coli [MeSH concept]
- adenomatous polyposis coli [SNOMED Notion]
- familial adenomatous polyposis [DO Concept]
- familial multiple polyposis syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Adenomatous Polyposis Coli Protein [NCIt concept]
- Adenomatous Polyposis Coli Protein 2 [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
disease_has_associated_disease
- Adenomatous Polyp [NCIt concept]
- Colorectal Carcinoma [NCIt concept]
disease_has_associated_disease
- Adenocarcinoma in Adenomatous Polyposis Coli [NCIt concept]
- Familial Adenomatous Polyposis Associated Medulloblastoma [NCIt concept]
- Turcot Syndrome Type 2 [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Inactivating APC Gene Mutation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 5 [NCIt concept]
disease_mapped_to_gene
- APC Gene [NCIt concept]
may_be_associated_disease_of_disease
- Familial Multiple Pilomatricomas [NCIt concept]
- Foveolar-Type Adenoma [NCIt concept]
- Fundic Gland Polyp [NCIt concept]
- Hereditary Colon Carcinoma [NCIt concept]
- Thyroid Gland Cribriform Morular Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- APC Gene [NCIt concept]
- APC wt Allele [NCIt concept]
related_to_genetic_biomarker
- APC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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