Preferred Label : Familial nonpolyposis colorectal cancer;
ICD-11 definition : An autosomal dominant hereditary neoplastic syndrome characterized by the development
of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric
carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma.
Patients often develop colorectal carcinomas at an early age (mean, 45 years). The
increased risk for these cancers is due to inherited mutations that impair DNA mismatch
repair In the majority of the cases the lesions arise from the proximal colon. At
the molecular level, high-frequency microsatellite instability is present.;
Origin ID : 545664807;
See also inter- (CISMeF)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
An autosomal dominant hereditary neoplastic syndrome characterized by the development
of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric
carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma.
Patients often develop colorectal carcinomas at an early age (mean, 45 years). The
increased risk for these cancers is due to inherited mutations that impair DNA mismatch
repair In the majority of the cases the lesions arise from the proximal colon. At
the molecular level, high-frequency microsatellite instability is present.
