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letale mitochondriale myopathie op zuigelingenleeftijd (aandoening)
letale mitochondriale myopathie op zuigelingenleeftijd
letale infantiele mitochondriale myopathie
Lethal infantile mitochondrial myopathy
Lethal infantile mitochondrial disease
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results 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.
Id766251006
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map254857
SNOMED CT to ICD-10 extended map
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified