Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638515012 | Congenital muscular dystrophy with hyperlaxity (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638516013 | Congenital muscular dystrophy with hyperlaxity | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638517016 | A rare genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3638518014 | A rare genetic neuromuscular disease characterised by congenital hypotonia, generalised, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4140401000052116 | kongenital muskeldystrofi med hyperlaxitet | sv | Synonym (core metadata concept) | Active | Entire term 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 with hyperlaxity (disorder) | Is a | medfödd muskeldystrofi | false | Inferred relationship | Some | ||
| Congenital muscular dystrophy with hyperlaxity (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy with hyperlaxity (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy with hyperlaxity (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy with hyperlaxity (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with hyperlaxity (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with hyperlaxity (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with hyperlaxity (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy with hyperlaxity (disorder) | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy with hyperlaxity (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR