Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1771756014 | Familial hypercholesterolemia due to homozygous LDL receptor mutation (disorder) | en | Fully specified name | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 1773758016 | Familial hypercholesterolaemia due to homozygous LDL receptor mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 1775044011 | Familial hypercholesterolemia due to homozygous LDL receptor mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2972477013 | Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2972813013 | Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3035909011 | Familial hypercholesterolaemia due to homozygous low density lipoprotein receptor mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial hypercholesterolaemia due to homozygous LDL receptor mutation | Is a | Familial hypercholesterolemia (disorder) | true | Inferred relationship | Some | ||
| Familial hypercholesterolaemia due to homozygous LDL receptor mutation | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Familial hypercholesterolaemia due to homozygous LDL receptor mutation | Has definitional manifestation | Serum cholesterol above reference range | false | Inferred relationship | Some | ||
| Familial hypercholesterolaemia due to homozygous LDL receptor mutation | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 | |
| Familial hypercholesterolaemia due to homozygous LDL receptor mutation | Interprets | Serum total cholesterol measurement (procedure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR