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 |
6955411000146118 | mitochondriale neurogastro-intestinale encefalomyopathie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6955421000146111 | mitochondriële neurogastro-intestinale encefalomyopathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6955431000146113 | mitochondriale neurogastro-intestinale encefalomyopathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6955441000146117 | MNGIE | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6955451000146119 | mitochondriaal DNA-depletiesyndroom 4B | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
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) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Progressive external ophthalmoplegia | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Disorder of gastrointestinal tract (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Mitochondrial encephalomyopathy (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 3 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Finding site | Gastrointestinal tract structure | true | Inferred relationship | Some | 1 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Finding site | Eye region structure (body structure) | false | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 5 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Myopathy of extraocular muscles | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Finding site | Structure of extraocular muscle | true | Inferred relationship | Some | 2 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Chronic digestive system disorder | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 4 | |
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some | ||
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets