Status: current, Primitive. 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 | Active | Initial character case insensitive | SNOMED CT core |
| 3702812012 | Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3702813019 | Adult-onset distal myopathy due to VCP mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3702814013 | Adult-onset distal myopathy due to valosin containing protein mutation | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Adult-onset distal myopathy due to valosin containing protein mutation | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| Adult-onset distal myopathy due to valosin containing protein mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Adult-onset distal myopathy due to valosin containing protein mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Adult-onset distal myopathy due to valosin containing protein mutation | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
| Adult-onset distal myopathy due to valosin containing protein mutation | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Adult-onset distal myopathy due to valosin containing protein mutation | Is a | Hereditary progressive muscular dystrophy | false | Inferred relationship | Some | ||
| Adult-onset distal myopathy due to valosin containing protein mutation | Is a | Distal muscular dystrophy | true | Inferred relationship | Some | ||
| Adult-onset distal myopathy due to valosin containing protein mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Adult-onset distal myopathy due to valosin containing protein mutation | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Adult-onset distal myopathy due to valosin containing protein mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Australian dialect reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR