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 |
| 4946213018 | Autosomal recessive 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 |
| 4946214012 | Autosomal recessive 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 |
| 4946215013 | Autosomal recessive 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 |
| 4946216014 | Autosomal recessive 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 |
| 4946217017 | Autosomal recessive 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 |
| 4946224016 | A rare autosomal recessive 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 |
| 4946225015 | A rare autosomal recessive 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 |
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Is a | Congenital fiber-type disproportion myopathy due to SELENON mutation | true | Inferred relationship | Some | ||
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR