Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3704237014 | Hereditary site-specific ovarian cancer syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704238016 | Hereditary site-specific ovarian cancer syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704239012 | Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal neoplasm). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 923161000172117 | syndrome héréditaire de prédisposition au cancer de l'ovaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary site-specific ovarian cancer syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary site-specific ovarian cancer syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary site-specific ovarian cancer syndrome (disorder) | Is a | Familial neoplastic disease | false | Inferred relationship | Some | ||
| Hereditary site-specific ovarian cancer syndrome (disorder) | Is a | Primary malignant neoplasm of ovary | true | Inferred relationship | Some | ||
| Hereditary site-specific ovarian cancer syndrome (disorder) | Associated morphology | Malignant neoplasm, primary | false | Inferred relationship | Some | 1 | |
| Hereditary site-specific ovarian cancer syndrome (disorder) | Finding site | Ovarian structure | true | Inferred relationship | Some | 1 | |
| Hereditary site-specific ovarian cancer syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Hereditary site-specific ovarian cancer syndrome (disorder) | Is a | Familial ovarian cancer | true | Inferred relationship | Some | ||
| Hereditary site-specific ovarian cancer syndrome (disorder) | Associated morphology | Malignant neoplasm (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hereditary site-specific ovarian cancer syndrome (disorder) | Pathological process (attribute) | Malignant proliferation of primary neoplasm (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR