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autosomaal recessieve frontotemporale pachygyrie (aandoening)
autosomaal recessieve frontotemporale pachygyrie
Autosomal recessive frontotemporal pachygyria
A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.
Id773394007
StatusPrimitive
Associated morphologyvergroting
Finding sitestructuur van gyrus cerebri
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified