Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3311566010 | Hereditary breast and ovarian cancer syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401732014 | A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbor PVs in HBOC genes do not have a suggestive family history. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401733016 | A genetic condition characterised by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary breast and ovarian cancer syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome (disorder) | Is a | Familial cancer of breast | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome (disorder) | Is a | Malignant neoplasm of ovary (disorder) | false | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome (disorder) | Associated morphology | Malignant neoplasm of primary, secondary, or uncertain origin | false | Inferred relationship | Some | 2 | |
| Hereditary breast and ovarian cancer syndrome (disorder) | Associated morphology | Malignant neoplasm of primary, secondary, or uncertain origin | false | Inferred relationship | Some | 3 | |
| Hereditary breast and ovarian cancer syndrome (disorder) | Finding site | Breast structure | true | Inferred relationship | Some | 2 | |
| Hereditary breast and ovarian cancer syndrome (disorder) | Finding site | Ovarian structure | false | Inferred relationship | Some | 3 | |
| Hereditary breast and ovarian cancer syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome (disorder) | Is a | Familial ovarian cancer | true | Inferred relationship | Some | ||
| Hereditary breast and ovarian cancer syndrome (disorder) | Associated morphology | Malignant neoplasm (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hereditary breast and ovarian cancer syndrome (disorder) | Finding site | Ovarian structure | true | Inferred relationship | Some | 1 | |
| Hereditary breast and ovarian cancer syndrome (disorder) | Associated morphology | Malignant neoplasm (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR