Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702811017 | Adult-onset distal myopathy due to VCP (valosin containing protein) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3702812012 | Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702813019 | Adult-onset distal myopathy due to VCP mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3702814013 | Adult-onset distal myopathy due to valosin containing protein mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702815014 | A rare genetic distal myopathy disorder with characteristics of middle age-onset distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness has been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Is a | Hereditary progressive muscular dystrophy | false | Inferred relationship | Some | ||
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Is a | Distal muscular dystrophy | true | Inferred relationship | Some | ||
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR