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 |
| 5025330016 | Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5025331017 | Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5025332012 | Congenital fibre-type disproportion myopathy due to myosin heavy chain 7 mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5025333019 | Congenital fiber-type disproportion myopathy due to MYH7 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5025334013 | Congenital fibre-type disproportion myopathy due to MYH7 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5025340018 | Congenital myopathy with fibre-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5025544014 | Congenital myopathy with fiber-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner. | 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 myosin heavy chain 7 mutation (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | Is a | Congenital myopathy with fibre type disproportion | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) | 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