Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759938019 | Myopathy and diabetes mellitus (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759940012 | Myopathy and diabetes mellitus | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3759939010 | A rare genetic mitochondrial DNA-related mitochondrial myopathy disorder with characteristics of slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. The phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE). | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408624016 | A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408625015 | A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterised by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Myopathy and diabetes mellitus (disorder) | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Myopathy and diabetes mellitus (disorder) | Is a | Diabetes mellitus associated with genetic syndrome | true | Inferred relationship | Some | ||
| Myopathy and diabetes mellitus (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Myopathy and diabetes mellitus (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Myopathy and diabetes mellitus (disorder) | Associated with | Genetic disease | false | Inferred relationship | Some | 3 | |
| Myopathy and diabetes mellitus (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 1 | |
| Myopathy and diabetes mellitus (disorder) | Is a | Secondary myopathy | true | Inferred relationship | Some | ||
| Myopathy and diabetes mellitus (disorder) | Due to | Genetic disease | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR