Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2010. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2870489015 | Low density lipoprotein receptor mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 2872219016 | Low density lipoprotein receptor mutation | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3664442013 | LDLR (low density lipoprotein receptor) mutation | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 1643181000000115 | LDL (low density lipoprotein) receptor mutation | 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 mutation | Is a | Disorder of lipoprotein storage and metabolism | true | Inferred relationship | Existential restriction modifier |
| 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 | Inferred relationship | Existential restriction modifier | |
| Low density lipoprotein receptor adaptor protein 1 mutation | Is a | True | Low density lipoprotein receptor mutation | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR