letale mitochondriale myopathie op zuigelingenleeftijd (aandoening)
letale mitochondriale myopathie op zuigelingenleeftijd
letale infantiele mitochondriale myopathie
Lethal infantile mitochondrial myopathy
Lethal infantile mitochondrial disease
A rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map254857
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.3
CorrelationSNOMED CT source code to target map code correlation not specified