Status: current, Primitive. Date: 31-Jul 2010. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1364971000168112 | LDL receptor mutation | en | Synonym | Active | Case sensitive | SNOMED Clinical Terms Australian extension |
| 2870489015 | Low density lipoprotein receptor mutation (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 2872219016 | Low density lipoprotein receptor mutation | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3664442013 | LDLR (low density lipoprotein receptor) mutation | en | Synonym | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| LDL receptor mutation | Is a | Disorder of lipoprotein storage and metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Low density lipoprotein receptor adaptor protein 1 mutation | Is a | True | LDL receptor mutation | Inferred relationship | Some | |
| Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations | Is a | False | LDL receptor mutation | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR