Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2008. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2468187015 | BRCA1 gene mutation positive (finding) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2474292019 | BRCA1 gene mutation positive | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2871914019 | Breast cancer 1, early onset gene mutation positive | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2352621000052114 | förekomst av BRCA1-genmutation | 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 |
| BRCA1 gene mutation positive (finding) | Is a | Positive genetic finding (finding) | false | Inferred relationship | Some | ||
| BRCA1 gene mutation positive (finding) | Interprets | BRCA1 mutation carrier detection test (procedure) | true | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation positive (finding) | Finding method (attribute) | Procedure | false | Inferred relationship | Some | ||
| BRCA1 gene mutation positive (finding) | Has interpretation | Positive | false | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation positive (finding) | Interprets | BRCA1 mutation carrier detection test (procedure) | false | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation positive (finding) | Has interpretation | Positive | true | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation positive (finding) | Is a | Breast cancer genetic marker of susceptibility positive (finding) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Family history of breast cancer 1 gene mutation (situation) | Associated finding | False | BRCA1 gene mutation positive (finding) | Inferred relationship | Some | 1 |
| Family history of breast cancer 1 gene mutation (situation) | Associated finding | True | BRCA1 gene mutation positive (finding) | Inferred relationship | Some | 1 |
| Family history of breast cancer 1 gene mutation (situation) | Associated finding | False | BRCA1 gene mutation positive (finding) | Inferred relationship | Some | 1 |
This concept is not in any reference sets
FHIR