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syndroom van cerebellaire agenesie en hydrocefalie (aandoening)
syndroom van cerebellaire agenesie en hydrocefalie
hydrocefalie-cerebellaire agenesie-syndroom
cerebellaire agenese met hydrocefalie
Cerebellum agenesis with hydrocephaly
Agenesis of cerebellum and hydrocephalus syndrome
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.
Id715990006
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1397
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ03.9
RuleTRUE
AdviceALWAYS Q03.9
CorrelationSNOMED CT source code to target map code correlation not specified