| mitochondriale neurogastro-intestinale encefalomyopathie (aandoening) | | mitochondriale neurogastro-intestinale encefalomyopathie | | mitochondriële neurogastro-intestinale encefalomyopathie
MNGIE
mitochondriaal DNA-depletiesyndroom 4B
| | Mitochondrial neurogastrointestinal encephalomyopathy syndrome | | 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). |
| | Id | 718214007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.3 | | Term | Mitochondriën-myopathie, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 298 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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