Lissencephaly with cerebellar hypoplasia
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Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder)
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.
lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie type E
lissencefalie gelijktijdig met cerebellaire hypoplasie type E
Id785306007
StatusPrimitive
Associated morphologyHypoplasia
Finding siteCerebellar structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified