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syndroom van microcefalie, hersendefect, spasticiteit en hypernatriëmie (aandoening)
syndroom van microcefalie, hersendefect, spasticiteit en hypernatriëmie
syndroom van Franek-Bocker-Kahlen
Franek-Bocker-Kahlen-syndroom
Microcephalus, brain defect, spasticity, hypernatremia syndrome
Franek Bocker Kahlen syndrome
A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986.
Id770655004
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverhoogd
Interpretsspiertonus
referentieset met complexe 'mapping' naar ICD-10
TargetG98
RuleTRUE
AdviceALWAYS G98 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified