Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2870489015 | Low density lipoprotein receptor mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2872219016 | Low density lipoprotein receptor mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3664442013 | LDLR (low density lipoprotein receptor) mutation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3462771000052111 | mutation i LDL-receptor | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Low density lipoprotein receptor mutation (disorder) | Is a | Disorder of lipoprotein storage and metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations | Is a | False | Low density lipoprotein receptor mutation (disorder) | Inferred relationship | Some | |
| Low density lipoprotein receptor adaptor protein 1 mutation | Is a | True | Low density lipoprotein receptor mutation (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR