Preferred Label : Lynch Syndrome;
NCIt synonyms : Hereditary Colorectal Endometrial Cancer Syndrome; Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2); Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2); Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2); Hereditary Defective Mismatch Repair Syndrome; Hereditary Non-Polyposis Colon Cancer;
NCIt 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). In
the majority of the cases the lesions arise from the proximal colon. At the molecular
level, high-frequency microsatellite instability is present.;
Codes from synonyms : CDR0000044882;
Origin ID : C8494;
UMLS CUI : C4552100;
- Disease may have findings
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
- associated_with_malfunction_of_gene_product
- concept_is_in_subset
- disease_has_associated_disease
- disease_has_associated_gene
- disease_has_finding
- disease_mapped_to_gene
- disease_may_have_associated_disease
- disease_may_have_molecular_abnormality
- may_be_associated_disease_of_disease
- pathogenesis_of_disease_involves_gene
- related_to_genetic_biomarker