loading...| Preferred Name |
Lynch Syndrome |
|
| Synonyms |
|
|
| 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://purl.obolibrary.org/obo/NCIT_C8494 |
|
| code |
C8494 |
|
| 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 |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C179491 http://purl.obolibrary.org/obo/NCIT_C186341 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C156952 http://purl.obolibrary.org/obo/NCIT_C156953 http://purl.obolibrary.org/obo/NCIT_C174237 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C159416 http://purl.obolibrary.org/obo/NCIT_C177281 http://purl.obolibrary.org/obo/NCIT_C179478 http://purl.obolibrary.org/obo/NCIT_C165258 http://purl.obolibrary.org/obo/NCIT_C118168 http://purl.obolibrary.org/obo/NCIT_C157711 |
|
| Is_PCDC_EWS_Permissible_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 |
NCIT:C8494 |
|
| prefLabel |
Lynch Syndrome |
|
| Related_To_Genetic_Biomarker |
http://purl.obolibrary.org/obo/NCIT_C18421 http://purl.obolibrary.org/obo/NCIT_C18481 http://purl.obolibrary.org/obo/NCIT_C19195 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C1333990 |
|
| subClassOf |