Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3310356010 | Hereditary breast and ovarian cancer syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3311566010 | Hereditary breast and ovarian cancer syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3311567018 | Breast cancer is the most common cancer in women, accounting for 25% of all new cases of cancer. Most cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset breast and/or ovarian cancer and for 3-4% of all breast cancer. The lifetime risk of developing hereditary breast cancer and/or ovarian cancer can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between breast cancer families, suggesting the involvement of other genetic as well as non-genetic factors. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary breast and ovarian cancer syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome | Is a | Familial ovarian cancer | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome | Associated morphology | Malignant neoplasm | true | Inferred relationship | Some | 2 | |
| Hereditary breast and ovarian cancer syndrome | Finding site | Ovarian structure | true | Inferred relationship | Some | 1 | |
| Hereditary breast and ovarian cancer syndrome | Associated morphology | Malignant neoplasm | true | Inferred relationship | Some | 1 | |
| Hereditary breast and ovarian cancer syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome | Is a | Familial cancer of breast | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome | Is a | Malignant tumour of ovary | false | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome | Associated morphology | Malignant Neoplasm (Morphology) | false | Inferred relationship | Some | 2 | |
| Hereditary breast and ovarian cancer syndrome | Associated morphology | Malignant Neoplasm (Morphology) | false | Inferred relationship | Some | 3 | |
| Hereditary breast and ovarian cancer syndrome | Finding site | Structure of breast | true | Inferred relationship | Some | 2 | |
| Hereditary breast and ovarian cancer syndrome | Finding site | Ovarian structure | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Neoplasm and/or hamartoma reference set
Problem/Diagnosis reference set
FHIR