Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3499547019 | Distal myopathy with early respiratory muscle involvement (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499548012 | Distal myopathy with early respiratory muscle involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3500015017 | A mid-life onset distal myopathy with characteristics of tibialis anterior weakness and progressive respiratory muscle involvement present from the onset of the disease. It has been described in three generations of a family (11 patients). Transmission is autosomal dominant and an anticipation phenomenon is suspected. No genes have yet been identified. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Distal myopathy with early respiratory muscle involvement | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
Distal myopathy with early respiratory muscle involvement | Is a | Distal muscular dystrophy | false | Inferred relationship | Some | ||
Distal myopathy with early respiratory muscle involvement | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Distal myopathy with early respiratory muscle involvement | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 2 | |
Distal myopathy with early respiratory muscle involvement | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Distal myopathy with early respiratory muscle involvement | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 3 | |
Distal myopathy with early respiratory muscle involvement | Associated morphology | Dystrophy | false | Inferred relationship | Some | 2 | |
Distal myopathy with early respiratory muscle involvement | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Distal myopathy with early respiratory muscle involvement | Associated morphology | Dystrophy | false | Inferred relationship | Some | 1 | |
Distal myopathy with early respiratory muscle involvement | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 1 | |
Distal myopathy with early respiratory muscle involvement | Occurrence | Adulthood | false | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)