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3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom (aandoening)
3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom
MEGDEL-syndroom
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
MEGDEL syndrome
A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease.
Id711409002
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetE71.1
RuleTRUE
AdviceALWAYS E71.1
CorrelationSNOMED CT source code to target map code correlation not specified