lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie
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lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie type E (aandoening)
lissencefalie gelijktijdig met congenitale cerebellaire hypoplasie type E
lissencefalie gelijktijdig met cerebellaire hypoplasie type E
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E
A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by 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.
Id785306007
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 map100015
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified