Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3442512013 | Congenital muscular dystrophy Paradas type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442513015 | Congenital muscular dystrophy Paradas type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442514014 | Congenital myopathy Paradas type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442515010 | An early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. To date, two cases have been described. The disease is caused by a mutation in the dysferlin gene (DYSF) coding for a protein involved in membrane repair. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3993381000052115 | medfödd muskeldystrofi, Paradastyp | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy Paradas type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy Paradas type (disorder) | Is a | medfödd muskeldystrofi | false | Inferred relationship | Some | ||
| Congenital muscular dystrophy Paradas type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy Paradas type (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy Paradas type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Congenital muscular dystrophy Paradas type (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 3 | |
| Congenital muscular dystrophy Paradas type (disorder) | Associated morphology | Dystrophy | false | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy Paradas type (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 3 | |
| Congenital muscular dystrophy Paradas type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy Paradas type (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy Paradas type (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy Paradas type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy Paradas type (disorder) | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy Paradas type (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR