Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5035205012 | Progressive scapulohumeroperoneal distal myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5035206013 | Progressive scapulohumeroperoneal distal myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5035209018 | A rare genetic muscular dystrophy with characteristics of progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow and shoulder and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5035210011 | A rare genetic muscular dystrophy with characteristics of progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow and shoulder and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibres and increased internal nuclei. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive scapulohumeroperoneal distal myopathy (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Progressive scapulohumeroperoneal distal myopathy (disorder) | est un(e) (attribut) | dystrophie musculaire distale | true | Inferred relationship | Some | ||
| Progressive scapulohumeroperoneal distal myopathy (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| Progressive scapulohumeroperoneal distal myopathy (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Progressive scapulohumeroperoneal distal myopathy (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Progressive scapulohumeroperoneal distal myopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR