Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4946208017 | Autosomal dominant congenital fibre-type disproportion myopathy due to selenoprotein N mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4946209013 | Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4946210015 | Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4946211016 | Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4946212011 | Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 13589771000146112 | autosomaal dominante congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13589781000146114 | autosomaal dominante congenitale 'fiber-type disproportion myopathy' door SEPN1-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13589791000146111 | autosomaal dominante CFTDM door SELENON-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13589801000146110 | autosomaal dominante congenitale myopathie met vezeltypedisproportie door mutatie van selenoproteïne N (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4946222017 | A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4946223010 | A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Is a | Congenital fiber-type disproportion myopathy due to SELENON mutation | true | Inferred relationship | Some | ||
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR