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Pachygyria, intellectual disability, epilepsy syndrome (disorder)
Pachygyria, intellectual disability, epilepsy syndrome
Kuzniecky syndrome
A rare genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and on occasion headache are also associated.
syndroom van pachygyrie, verstandelijke beperking en epilepsie
syndroom van pachygyrie, mentale retardatie en epilepsie
syndroom van pachygyrie, verstandelijke handicap en epilepsie
syndroom van Kuzniecky
Id763861000
StatusPrimitive
Associated morphologyArachnoid cyst
Finding siteArachnoid structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyEnlargement
Finding siteStructure of cerebral gyrus
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified