loading...| Preferred Name |
Colorectal Neoplasms, Hereditary Nonpolyposis [Disease/Finding] |
|
| Synonyms |
Colorectal Neoplasms, Hereditary Nonpolyposis Hereditary Nonpolyposis Colorectal Neoplasms |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000818 |
|
| altLabel |
Colorectal Neoplasms, Hereditary Nonpolyposis Familial Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Neoplasms |
|
| cui |
C0009405 |
|
| MESH DEFINITION |
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. |
|
| MESH DUI |
D003123 |
|
| MeSH name |
Colorectal Neoplasms, Hereditary Nonpolyposis |
|
| MESH UI |
M0004834 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000818 |
|
| NUI |
N0000000818 |
|
| prefLabel |
Colorectal Neoplasms, Hereditary Nonpolyposis [Disease/Finding] |
|
| SNOMED CID |
315058005 |
|
| tui |
T191 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MSHFRE/D003123 | MSHFRE | CUI | |
| http://purl.bioontology.org/ontology/MESH/D003123 | MESH | CUI |