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syndroom van encefalopathie, hypertrofische cardiomyopathie en renale tubulopathie (aandoening)
syndroom van encefalopathie, hypertrofische cardiomyopathie en renale tubulopathie
syndroom van hersenaandoening, hypertrofische cardiomyopathie en renale tubulopathie
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome
A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.
Id763280005
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified