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 |
| 5403523015 | A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403524014 | A rare, genetic, skeletal muscle channelopathy characterised by slow muscle relaxation after contraction (myotonia). | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR