Lynch syndrome

Term ID

DOID:3883

Synonyms

• Hereditary Defective Mismatch Repair syndrome
• Hereditary non-polyposis colon cancer
• Hereditary non-polyposis colon cancer syndrome
• Hereditary non-polyposis colorectal cancer
• Hereditary non-polyposis colorectal cancer syndrome
• Hereditary nonpolyposis colon cancer
• Hereditary nonpolyposis colon cancer syndrome
• hereditary nonpolyposis colorectal cancer
• Hereditary nonpolyposis colorectal cancer syndrome
• hereditary nonpolyposis colorectal neoplasm
• HNPCC

Definition

A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. (2)

References

• GARD:9905
• MESH:D003123
• MIM:PS120435
• NCI:C8494
• ORDO:144
• SNOMEDCT_US_2023_03_01:700064004
• UMLS_CUI:C0009405
• UMLS_CUI:C4552100

Ontology

Human Disease   ( DOID:3883 )