loading...| Preferred Name | Familial Adenomatous Polyposis | |
| Synonyms |
Familial Adenomatous Polyposis Coli Polyposis Coli APC - Adenomatous Polyposis Coli Familial polyposis coli familial polyposis Hereditary Adenomatous Polyposis Coli Familial Adenomatous Polyposis Syndrome Familial Adenomatous Polyposis familial adenomatous polyposis Adenomatous Polyposis Coli Familial Adenomatous Polyposis 1 Adenomatous polyposis coli FAP |
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| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3339 |
|
| 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. |
|
| code |
C3339 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168661 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168656 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168662 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168658 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C168655 |
|
| Contributing_Source |
Cellosaurus CCPS CTRP GDC |
|
| 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. |
|
| Display_Name |
Familial Adenomatous Polyposis |
|
| FULL_SYN |
Familial Adenomatous Polyposis Coli Polyposis Coli APC - Adenomatous Polyposis Coli Familial polyposis coli familial polyposis Hereditary Adenomatous Polyposis Coli Familial Adenomatous Polyposis Syndrome Familial Adenomatous Polyposis familial adenomatous polyposis Adenomatous Polyposis Coli Familial Adenomatous Polyposis 1 Adenomatous polyposis coli FAP |
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| ICD-O-3_Code |
8220/0 |
|
| Is_Value_For_GDC_Property |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177621 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17103 |
|
| label |
Familial Adenomatous Polyposis |
|
| Legacy Concept Name |
Familial_Adenomatous_Polyposis |
|
| Maps_To |
Familial polyposis coli Familial Adenomatous Polyposis Adenomatous Polyposis Coli Adenomatous polyposis coli 8220/0 |
|
| Preferred_Name |
Familial Adenomatous Polyposis |
|
| prefixIRI |
Thesaurus:C3339 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0032580 |
|
| subClassOf |