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syndroom van autosomaal recessieve leukencefalopathie, ischemisch cerebrovasculair accident en retinitis pigmentosa (aandoening)
syndroom van autosomaal recessieve leukencefalopathie, ischemisch cerebrovasculair accident en retinitis pigmentosa
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.
Id771476007
StatusPrimitive
Associated morphologyabnormale ontwikkeling
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified