Status: current, Not 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 |
| 4946203014 | 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 |
| 4946204015 | 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 |
| 4946205019 | 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 |
| 4946206018 | 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 |
| 4946207010 | 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 |
| 13590591000146114 | 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) |
| 13590601000146116 | 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) |
| 13590611000146119 | 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) |
| 13590621000146112 | CFTDM door SELENON-mutatie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4946220013 | A rare genetic 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 |
| 4946221012 | A rare genetic 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital fiber-type disproportion myopathy due to SELENON mutation | Is a | Congenital myopathy with fibre type disproportion | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to SELENON mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to SELENON mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to SELENON mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to SELENON mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation | Is a | True | Congenital fiber-type disproportion myopathy due to SELENON mutation | Inferred relationship | Some | |
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Is a | True | Congenital fiber-type disproportion myopathy due to SELENON mutation | Inferred relationship | Some |
This concept is not in any reference sets
FHIR