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Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder)
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.
syndroom van partiƫle agenesie van corpus callosum, hypoplasie van vermis cerebelli en cysten in fossa cranialis posterior
syndroom van partiƫle agenesie van corpus callosum, hypoplasie van cerebellaire vermis en cysten in achterste schedelbasisgroeve
Id773497001
StatusPrimitive
Associated morphologyCystic dilatation
Finding siteInfratentorial brain structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAgenesis
Finding siteCorpus callosum part
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteCerebellar vermis 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