Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697932012 | Proximal myopathy with focal depletion of mitochondria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697933019 | Proximal myopathy with focal depletion of mitochondria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697934013 | A rare genetic neuromuscular disease with characteristics of late onset of mild, progressive proximal muscle weakness, severe myalgia during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the centre of muscle fibres, surrounded by enlarged mitochondria at the periphery. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4697935014 | A rare genetic neuromuscular disease with characteristics of late onset of mild, progressive proximal muscle weakness, severe myalgia during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Proximal myopathy with focal depletion of mitochondria | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
| Proximal myopathy with focal depletion of mitochondria | Is a | Proximal myopathy | true | Inferred relationship | Some | ||
| Proximal myopathy with focal depletion of mitochondria | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Proximal myopathy with focal depletion of mitochondria | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Proximal myopathy with focal depletion of mitochondria | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR