Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5471245015 | Germline RB1 gene mutation detected (finding) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5471246019 | Germline RB1 gene mutation detected | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Germline RB1 gene mutation detected (finding) | Is a | Genetic finding detected | true | Inferred relationship | Some | ||
| Germline RB1 gene mutation detected (finding) | Is a | Genetic susceptibility to cancer (finding) | true | Inferred relationship | Some | ||
| Germline RB1 gene mutation detected (finding) | Interprets | Genetic test (procedure) | true | Inferred relationship | Some | 1 | |
| Germline RB1 gene mutation detected (finding) | Has interpretation | Detected | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR