Autosomal recessive hereditary disorder	Developmental hereditary disorder	Dysgenesis of the cerebellum	Hereditary disorder of nervous system	Intellectual disability	Multiple system malformation syndrome	Partial seizure
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Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
	Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome
	A rare genetic neurological disorder with early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura. When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.
	syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie
	syndroom van focale epilepsie, verstandelijke handicap en cerebrocerebellaire malformatie syndroom van focale epilepsie, mentale retardatie en cerebrocerebellaire malformatie syndroom van focale epilepsie, mentale retardatie, dysartrie en ataxie

Id	765089003
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Cerebellar structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q04.8
Rule	TRUE
Advice	ALWAYS Q04.8
Correlation	SNOMED CT source code to target map code correlation not specified