Status: current, Defined. Date: 31-Jul 2008. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2468191013 | BRCA2 gene mutation positive (finding) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 2474295017 | BRCA2 gene mutation positive | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 2872218012 | Breast cancer 2, early onset gene mutation positive | en | Synonym | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| BRCA2 gene mutation positive | Is a | Positive genetic finding | false | Inferred relationship | Some | ||
| BRCA2 gene mutation positive | Interprets | BRCA1 mutation carrier detection test | false | Inferred relationship | Some | ||
| BRCA2 gene mutation positive | Finding method | Procedure | false | Inferred relationship | Some | ||
| BRCA2 gene mutation positive | Has interpretation | Positive | false | Inferred relationship | Some | 1 | |
| BRCA2 gene mutation positive | Interprets | BRCA2 mutation carrier detection test | false | Inferred relationship | Some | 1 | |
| BRCA2 gene mutation positive | Has interpretation | Positive | true | Inferred relationship | Some | 1 | |
| BRCA2 gene mutation positive | Interprets | BRCA2 mutation carrier detection test | true | Inferred relationship | Some | 1 | |
| BRCA2 gene mutation positive | Is a | Breast cancer genetic marker of susceptibility positive | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Family history of BRCA2 gene mutation | Associated finding | False | BRCA2 gene mutation positive | Inferred relationship | Some | 1 |
| Family history of BRCA2 gene mutation | Associated finding | True | BRCA2 gene mutation positive | Inferred relationship | Some | 1 |
| Family history of BRCA2 gene mutation | Associated finding | False | BRCA2 gene mutation positive | Inferred relationship | Some | 1 |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR