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syndroom van partiële agenesie van corpus callosum, hypoplasie van vermis cerebelli en cysten in fossa cranialis posterior (aandoening)
syndroom van partiële agenesie van corpus callosum, hypoplasie van vermis cerebelli en cysten in fossa cranialis posterior
syndroom van partiële agenesie van corpus callosum, hypoplasie van cerebellaire vermis en cysten in achterste schedelbasisgroeve
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
Id773497001
StatusPrimitive
Associated morphologyagenesie
Finding sitegedeelte van corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
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 map401959
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified