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lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie type A (aandoening)
lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie type A
lissencefalie gelijktijdig met cerebellaire hypoplasie type A
Lissencephaly with cerebellar hypoplasia type A
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable predominantly midline cerebellar hypoplasia.
Id785307003
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
SNOMED CT to Orphanet simple map100011
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified