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mitochondriale neurogastro-intestinale encefalomyopathie (aandoening)
mitochondriale neurogastro-intestinale encefalomyopathie
MNGIE
mitochondriaal DNA-depletiesyndroom 4B
mitochondriƫle neurogastro-intestinale encefalomyopathie
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).
Id718214007
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3
CorrelationSNOMED CT source code to target map code correlation not specified