Status: current, Not sufficiently defined by necessary conditions definition status. Date: 28-Sep 2022. Module: SNOMED CT United Kingdom Edition module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 307481000237115 | Low density lipoprotein receptor gene mutation positive | en | Synonym | Active | Entire term case insensitive | SNOMED CT United Kingdom Edition module |
| 307491000237118 | Low density lipoprotein receptor gene mutation positive (finding) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT United Kingdom Edition module |
| 307501000237110 | LDLR (low density lipoprotein receptor) gene mutation positive | en | Synonym | Active | Entire term case sensitive | SNOMED CT United Kingdom Edition module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Low density lipoprotein receptor gene mutation positive | Interprets | Genetic test | true | Inferred relationship | Existential restriction modifier | 1 | |
| Low density lipoprotein receptor gene mutation positive | Has interpretation | Positive | true | Inferred relationship | Existential restriction modifier | 1 | |
| Low density lipoprotein receptor gene mutation positive | Has interpretation | Positive | true | Inferred relationship | Existential restriction modifier | 2 | |
| Low density lipoprotein receptor gene mutation positive | Interprets | Familial hypercholesterolaemia targeted genetic test result | true | Inferred relationship | Existential restriction modifier | 2 | |
| Low density lipoprotein receptor gene mutation positive | Is a | Positive genetic finding | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR