Preferred Name |
Lynch Syndrome |
|
Synonyms |
Lynch syndrome Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Colorectal Endometrial Cancer Syndrome Lynch Syndrome Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Defective Mismatch Repair Syndrome |
|
Definitions |
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8494 |
|
code |
C8494 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C159416 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#C156952 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174237 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 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#C156953 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179491 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186341 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174251 |
|
Contributing_Source |
Cellosaurus CCPS CPTAC CTRP GDC PCDC |
|
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. |
|
Display_Name |
Lynch Syndrome |
|
FULL_SYN |
Lynch syndrome Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Colorectal Endometrial Cancer Syndrome Lynch Syndrome Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Defective Mismatch Repair Syndrome |
|
Is_PCDC_EWS_Authorized_Value_For_Variable | ||
Is_Value_For_GDC_Property | ||
label |
Lynch Syndrome |
|
Legacy Concept Name |
Hereditary_Non-Polyposis_Colon_Cancer |
|
Maps_To |
Lynch Syndrome |
|
Preferred_Name |
Lynch Syndrome |
|
prefixIRI |
Thesaurus:C8494 |
|
Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19195 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18591 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18482 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C1333990 |
|
subClassOf |