obsolete_Lynch syndrome

hereditary nonpolyposis colorectal neoplasm

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal cancer

Hereditary colorectal endometrial cancer syndrome

Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

hereditary defective mismatch repair syndrome

hereditary non-polyposis colon cancer type 1

familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

Lynch syndrome

Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. 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.

http://www.orpha.net/ORDO/Orphanet_144

true

Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria.

http://linkedlifedata.com/resource/umls/id/C1112155

http://linkedlifedata.com/resource/umls/id/C0009405

EFO:0007354

SCTID:716318002

MedDRA:10051981

ICD10:D48.9

Orphanet:144

DOID:3883

NCIT:C8494

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.

true

http://www.orpha.net/ORDO/Orphanet_144

http://purl.obolibrary.org/obo/NCIT_C8494

http://linkedlifedata.com/resource/umls/id/C1333990

http://identifiers.org/snomedct/716318002

http://purl.obolibrary.org/obo/DOID_3883

http://identifiers.org/meddra/10051981

http://identifiers.org/mesh/D003123

hereditary nonpolyposis colorectal cancer

HNPCC - hereditary nonpolyposis colon cancer

hereditary nonpolyposis colorectal neoplasm

Lynch syndrome

familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

hereditary non-polyposis colon cancer type 1

hereditary defective mismatch repair syndrome

Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)

Hereditary colorectal endometrial cancer syndrome

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#clingen

obsolete_Lynch syndrome

3.41.0

obsolete_Lynch syndrome

Replaced with Mondo term.

https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc

https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria

https://github.com/monarch-initiative/mondo/issues/1673

http://purl.obolibrary.org/obo/MONDO_0005835

http://www.w3.org/2002/07/owl#Thing