Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3302204017 | Proximal myotonic myopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3302205016 | Myotonic dystrophy type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3302206015 | Ricker disease | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3302207012 | Ricker syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Proximal myotonic myopathy | Is a | Myotonic dystrophy | true | Inferred relationship | Some | ||
| Proximal myotonic myopathy | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| Proximal myotonic myopathy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Proximal myotonic myopathy | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Proximal myotonic myopathy | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Proximal myotonic myopathy | Is a | Myotonic disorder | false | Inferred relationship | Some | ||
| Proximal myotonic myopathy | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Proximal myotonic myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR