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 |
| 245771000237118 | Familial hypercholesterolaemia targeted genetic test result (observable entity) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT United Kingdom Edition module |
| 245781000237116 | Familial hypercholesterolaemia targeted genetic test result | en | Synonym | Active | Entire term case insensitive | SNOMED CT United Kingdom Edition module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial hypercholesterolaemia targeted genetic test result | Is a | Laboratory test observable | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Apolipoprotein E gene mutation positive | Interprets | True | Familial hypercholesterolaemia targeted genetic test result | Inferred relationship | Existential restriction modifier | 2 |
| Proprotein convertase subtilisin/kexin type 9 gene mutation positive | Interprets | True | Familial hypercholesterolaemia targeted genetic test result | Inferred relationship | Existential restriction modifier | 2 |
| Low density lipoprotein receptor gene mutation positive | Interprets | True | Familial hypercholesterolaemia targeted genetic test result | Inferred relationship | Existential restriction modifier | 2 |
| Apolipoprotein B gene mutation positive | Interprets | True | Familial hypercholesterolaemia targeted genetic test result | Inferred relationship | Existential restriction modifier | 2 |
This concept is not in any reference sets
FHIR