Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3763742019 | X-linked scapuloperoneal muscular dystrophy (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3763743012 | X-linked scapuloperoneal muscular dystrophy | en | Synonym | Active | Case sensitive | SNOMED CT core |
3763744018 | X-linked scapuloperoneal syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3763745017 | A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked scapuloperoneal muscular dystrophy | Is a | Hereditary progressive muscular dystrophy | true | Inferred relationship | Some | ||
X-linked scapuloperoneal muscular dystrophy | Is a | Scapuloperoneal muscular dystrophy | true | Inferred relationship | Some | ||
X-linked scapuloperoneal muscular dystrophy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
X-linked scapuloperoneal muscular dystrophy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
X-linked scapuloperoneal muscular dystrophy | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked scapuloperoneal muscular dystrophy | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked scapuloperoneal muscular dystrophy | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
X-linked scapuloperoneal muscular dystrophy | Is a | X-linked dominant hereditary disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set