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 |
| 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 |
| 5181101018 | BRCA1 gene mutation detected (finding) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5181102013 | BRCA1 gene mutation detected | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 390611000146113 | BRCA1-genmutatie positief | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 390621000146115 | BRCA1-genmutatie positief (bevinding) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13278691000146111 | BRCA-1-mutatie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13037951000146118 | Iemand heeft een grotere kans om borstkanker te krijgen door een afwijking in het DNA. Degene heeft de afwijking van zijn of haar vader of moeder heeft gekregen. De genen die meestal betrokken zijn bij erfelijke aanleg voor borstkanker, heten BRCA1, BRCA2, PALB2, ATM en CHECK2. Ook fouten in andere genen kunnen zorgen voor een erfelijke aanleg voor borstkanker. | nl | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13508471000146114 | Een fout (mutatie) in het DNA. De fout zit in het BRCA-1-gen. Door deze fout is de kans op borstkanker, eierstokkanker en sommige andere kankersoorten groter. Deze fout kan je overerven van een van je ouders. | nl | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| BRCA1 gene mutation detected (finding) | Is a | Genetic finding detected | false | Inferred relationship | Some | ||
| BRCA1 gene mutation detected (finding) | Interprets | BRCA1 mutation carrier detection test (procedure) | true | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation detected (finding) | Finding method (attribute) | Procedure | false | Inferred relationship | Some | ||
| BRCA1 gene mutation detected (finding) | Has interpretation | Positive | false | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation detected (finding) | Interprets | BRCA1 mutation carrier detection test (procedure) | false | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation detected (finding) | Has interpretation | Positive | false | Inferred relationship | Some | 1 | |
| BRCA1 gene mutation detected (finding) | Is a | Breast cancer genetic marker of susceptibility detected | true | Inferred relationship | Some | ||
| BRCA1 gene mutation detected (finding) | Has interpretation | Detected | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Family history of breast cancer 1 gene mutation (situation) | Associated finding | False | BRCA1 gene mutation detected (finding) | Inferred relationship | Some | 1 |
| Family history of breast cancer 1 gene mutation (situation) | Associated finding | True | BRCA1 gene mutation detected (finding) | Inferred relationship | Some | 1 |
| Family history of breast cancer 1 gene mutation (situation) | Associated finding | False | BRCA1 gene mutation detected (finding) | Inferred relationship | Some | 1 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR