Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3726011010 | X-linked myopathy with postural muscle atrophy (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 3726012015 | X-linked myopathy with postural muscle atrophy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3726013013 | XMPMA - X-linked myopathy with postural muscle atrophy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3726014019 | A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3726015018 | A rare progressive muscular dystrophy characterised by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalised hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is 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 myopathy with postural muscle atrophy | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| X-linked myopathy with postural muscle atrophy | Is a | Muscular dystrophy | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| X-linked myopathy with postural muscle atrophy | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| X-linked myopathy with postural muscle atrophy | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Is a | Chronic disease of musculoskeletal system | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| X-linked myopathy with postural muscle atrophy | Is a | Degenerative disorder | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Is a | Disorder of skeletal muscle | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Is a | Degenerative disorder of muscle | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Is a | Degenerative disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Is a | Hereditary progressive muscular dystrophy | true | Inferred relationship | Some | ||
| X-linked myopathy with postural muscle atrophy | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 |
| 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
FHIR