Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5234344010 | Calpain-3-related limb girdle muscular dystrophy D4 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234345011 | Calpain-3-related limb girdle muscular dystrophy D4 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234346012 | Limb girdle muscular dystrophy type D4 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234347015 | A rare autosomal dominant limb girdle muscular dystrophy with characteristics of adult onset of proximal muscle weakness, pain and wasting predominantly affecting the proximal leg, lumbar paraspinal and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often but not always elevated and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable although most patients remain ambulatory. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Calpain-3-related limb girdle muscular dystrophy D4 | Is a | Autosomal dominant muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
| Calpain-3-related limb girdle muscular dystrophy D4 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Calpain-3-related limb girdle muscular dystrophy D4 | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Calpain-3-related limb girdle muscular dystrophy D4 | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Calpain-3-related limb girdle muscular dystrophy D4 | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Calpain-3-related limb girdle muscular dystrophy D4 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR