Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3656377012 | Spheroid body myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3656378019 | Spheroid body myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3656379010 | A rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3656380013 | A rare form of myofibrillar myopathy characterised by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibres) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
881131000172112 | myopathie à corps sphéroîdes | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spheroid body myopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Spheroid body myopathy | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
Spheroid body myopathy | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spheroid body myopathy | Is a | Myofibrillar myopathy | true | Inferred relationship | Some | ||
Spheroid body myopathy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Spheroid body myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets