About: Familial Adenomatous Polyposis     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Familial Adenomatous Polyposis
equivalentClass
Semantic_Type
  • Neoplastic Process
Preferred_Name
  • Familial Adenomatous Polyposis
UMLS_CUI
  • C0032580
ALT_DEFINITION
  • 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.NCI-GLOSS
ICD-O-3_Code
  • 8220/0
Neoplastic_Status
  • Benign
Legacy_Concept_Name
  • Familial_Adenomatous_Polyposis
FULL_SYN
  • FAPABNCI
  • FAPPTNCI-GLOSSCDR0000044777
  • familial adenomatous polyposisPTNCI-GLOSSCDR0000045100
  • familial polyposisPTNCI-GLOSSCDR0000045688
  • Familial Adenomatous Polyposis ColiSYNCI
  • Polyposis ColiSYNCI
  • Adenomatous Polyposis ColiSYNCI
  • Hereditary Adenomatous Polyposis ColiSYNCI
  • Familial Adenomatous Polyposis SyndromeSYNCI
  • Familial Adenomatous PolyposisPTNCI
  • APC - Adenomatous Polyposis ColiSYNCI
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.NCI
code
  • C3339
is rdf:first of
is someValuesFrom of
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