Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
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 (core metadata concept) | SNOMED CT core |
| 4012916015 | Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4012915016 | Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4355090018 | Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | est un(e) (attribut) | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR