Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4964329015 | Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4964330013 | Autosomal dominant congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4964331012 | Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4964332017 | Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4964333010 | Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4964334016 | A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4964335015 | A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13). | 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 ACTA1 mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | Congenital fibre-type disproportion myopathy due to ACTA1 mutation | true | Inferred relationship | Some | ||
| Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR