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 |
| 3447739012 | Myotonia congenita (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3447740014 | Myotonia congenita | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3447741013 | Congenital myotonia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3447742018 | A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Myotonia congenita (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Myotonia congenita (disorder) | Is a | Myotonic disorder | true | Inferred relationship | Some | ||
| Myotonia congenita (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Myotonia congenita (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Congenital myotonia, autosomal recessive form | Is a | True | Myotonia congenita (disorder) | Inferred relationship | Some | |
| Congenital myotonia, autosomal dominant form | Is a | True | Myotonia congenita (disorder) | Inferred relationship | Some | |
| Richieri Costa-da Silva syndrome | Is a | False | Myotonia congenita (disorder) | Inferred relationship | Some | |
| Schwartz-Jampel syndrome | Is a | True | Myotonia congenita (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR