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 |
| 4964324013 | Autosomal recessive 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 |
| 4964325014 | Autosomal recessive 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 |
| 4964326010 | Autosomal recessive 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 |
| 4964327018 | Autosomal recessive 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 |
| 4964328011 | Autosomal recessive 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 |
| 13588221000146110 | autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13588231000146112 | autosomaal recessieve CFTDM door ACTA1-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13588241000146116 | autosomaal recessieve congenitale myopathie met vezeltypedisproportie door mutatie van 'actin alpha 1' (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13588251000146118 | autosomaal recessieve congenitale 'fiber-type disproportion myopathy' door mutatie van ACTA1 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4964336019 | A rare autosomal recessive 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 |
| 4964337011 | A rare autosomal recessive 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 recessive 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 recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive 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