National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179478

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C83118

Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17103

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16457

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18481

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18421

Semantic_Type

Disease or Syndrome

UMLS_CUI

C1333990

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7757

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120083

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