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 |
| 4945912012 | Congenital fiber-type disproportion myopathy due to ZAK mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4945913019 | Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4945914013 | Congenital fibre-type disproportion myopathy due to ZAK mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4945915014 | CNM6 - centronuclear myopathy 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4945918011 | A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4945919015 | A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31. | 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 ZAK mutation | Is a | Congenital myopathy with fibre type disproportion | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to ZAK mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to ZAK mutation | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to ZAK mutation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to ZAK mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to ZAK mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to ZAK mutation | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to ZAK 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