Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5406306017 | Symptomatic form of X-linked myotubular myopathy in female carrier | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406307014 | Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406308016 | Symptomatic form of X-linked centronuclear myopathy in female carrier | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406309012 | A rare centronuclear myopathy characterized by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5406310019 | A rare centronuclear myopathy characterised by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) | Is a | Myotubular myopathy | true | Inferred relationship | Some | ||
| Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) | Is a | Genetic disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR