Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3513469019 | Family history of BRCA gene mutation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3515818010 | Family history of breast cancer gene BRCA mutation (situation) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3515819019 | Family history of breast cancer gene BRCA mutation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4814141000052119 | familjeanamnes på bröstcancer med mutation i BRCA-genen | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Family history of breast cancer gene BRCA mutation (situation) | Is a | Family history of clinical finding | true | Inferred relationship | Some | ||
| Family history of breast cancer gene BRCA mutation (situation) | Associated finding | Breast cancer genetic marker of susceptibility positive (finding) | true | Inferred relationship | Some | 1 | |
| Family history of breast cancer gene BRCA mutation (situation) | Finding context (attribute) | Known present (qualifier value) | true | Inferred relationship | Some | 1 | |
| Family history of breast cancer gene BRCA mutation (situation) | Temporal context (attribute) | Current or past (actual) (qualifier value) | true | Inferred relationship | Some | 1 | |
| Family history of breast cancer gene BRCA mutation (situation) | Subject relationship context (attribute) | Person in family of subject (person) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Family history of breast cancer 1 gene mutation (situation) | Is a | True | Family history of breast cancer gene BRCA mutation (situation) | Inferred relationship | Some | |
| Family history of breast cancer 2 gene mutation (situation) | Is a | True | Family history of breast cancer gene BRCA mutation (situation) | Inferred relationship | Some | |
| Family history of breast cancer gene mutation in first degree relative | Is a | True | Family history of breast cancer gene BRCA mutation (situation) | Inferred relationship | Some |
Reference Sets
Description inactivation indicator reference set
FHIR