Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4964317012 | Congenital fibre-type disproportion myopathy due to ACTA1 mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4964318019 | Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 4964319010 | Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4964320016 | Congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4964321017 | Congenital fiber-type disproportion myopathy due to ACTA1 mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Is a | Autosomal hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Is a | Congenital myopathy with fiber type disproportion | true | Inferred relationship | Existential restriction modifier | ||
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Is a | True | Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Inferred relationship | Existential restriction modifier | |
| Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Is a | True | Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets
FHIR