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dysgyrie bij tubulinopathie (aandoening)
dysgyrie bij tubulinopathie
syndroom van asymmetrische hersenstam en dysplasie van superieur cerebellum en basale ganglia
Tubulinopathy-associated dysgyria
Brain stem asymmetry, superior cerebellar and basal ganglia dysplasia syndrome
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures and behavioral problems.
Id1187215002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van basaal ganglion
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
ICD-10 complex map reference set
TargetQ04.8
RuleTRUE
AdviceALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified