mitochondriale neurogastro-intestinale encefalomyopathie (aandoening)
mitochondriale neurogastro-intestinale encefalomyopathie
mitochondriƫle neurogastro-intestinale encefalomyopathie
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).
Clinical courseprogressief
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermMitochondriƫn-myopathie, niet elders geclassificeerd
SNOMED CT to Orphanet simple map298
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.3
CorrelationSNOMED CT source code to target map code correlation not specified