Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302203011 | Proximal myotonic myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302204017 | Proximal myotonic myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302205016 | Myotonic dystrophy type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302206015 | Ricker disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302207012 | Ricker syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302208019 | A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302209010 | A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Proximal myotonic myopathy (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Proximal myotonic myopathy (disorder) | Is a | Myotonic disorder | false | Inferred relationship | Some | ||
| Proximal myotonic myopathy (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Proximal myotonic myopathy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Proximal myotonic myopathy (disorder) | Is a | Myotonic dystrophy (disorder) | true | Inferred relationship | Some | ||
| Proximal myotonic myopathy (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Proximal myotonic myopathy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Proximal myotonic myopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR