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 |
3310432012 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3310433019 | Mitochondrial neurogastrointestinal encephalomyopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3311535016 | Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311536015 | Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 5 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Myopathy of extraocular muscles (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | localisation d'une constatation (attribut) | Structure of extraocular muscle | true | Inferred relationship | Some | 2 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Chronic metabolic disorder | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | affection chronique de l'appareil digestif | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | leuco-encéphalopathie | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | progressive external ophthalmoplegia (trouble) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Disorder of gastrointestinal tract (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | est un(e) (attribut) | Mitochondrial encephalomyopathy (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | localisation d'une constatation (attribut) | Cerebral white matter structure | true | Inferred relationship | Some | 3 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure du tractus gastro-intestinal | true | Inferred relationship | Some | 1 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | false | Inferred relationship | Some | 4 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | localisation d'une constatation (attribut) | Eye region structure (body structure) | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets