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aprosencefalie en cerebellaire dysgenesie (aandoening)
aprosencefalie en cerebellaire dysgenesie
Aprosencephaly cerebellar dysgenesis
A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.
Id1237366005
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van telencephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map1126
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