Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3664522019 | Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3664523012 | Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 12121171000146117 | gecombineerde heterozygote LDL-receptormutatie gelijktijdig optredend met LDLRAP1-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12121311000146111 | gecombineerde heterozygote 'low-density lipoprotein receptor'-mutatie gelijktijdig optredend met 'low-density lipoprotein receptor adaptor protein-1'-mutatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12121321000146118 | gecombineerde heterozygote 'low-density lipoprotein receptor'-mutatie gelijktijdig optredend met 'low-density lipoprotein receptor adaptor protein-1'-mutatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations | Is a | Low density lipoprotein receptor mutation (disorder) | false | Inferred relationship | Some | ||
| Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations | Is a | Low density lipoprotein receptor adaptor protein 1 mutation | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Double heterozygous familial hypercholesterolaemia | Is a | True | Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations | Inferred relationship | Some | |
| Double heterozygous familial hypercholesterolaemia | Due to | True | Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR