Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4012914017 | Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
4012916015 | Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Existential restriction modifier | ||
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | Associated morphology | Dystrophy | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets