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X-gebonden cerebraal-cerebellair-coloboomsyndroom (aandoening)
X-gebonden cerebraal-cerebellair-coloboomsyndroom
X-gebonden mentale retardatie type Kroes
X-linked cerebral, cerebellar, coloboma syndrome
X-linked intellectual disability Kroes type
A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.
Id770604006
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegeheel corpus callosum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified