Status: current, Not 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 |
| 4964317012 | 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 |
| 4964318019 | 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 |
| 4964319010 | 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 |
| 4964320016 | 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 |
| 4964321017 | 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 |
| 4964322012 | A rare genetic 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 |
| 4964323019 | A rare genetic 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | Congenital myopathy with fibre type disproportion | true | Inferred relationship | Some | ||
| Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| 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 |
| Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | True | Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Inferred relationship | Some | |
| Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | True | Congenital fibre-type disproportion myopathy due to ACTA1 mutation | Inferred relationship | Some |
This concept is not in any reference sets
FHIR