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ferrocerebrocutaan syndroom (aandoening)
ferrocerebrocutaan syndroom
cerebrocutaan syndroom met ijzerstapeling
Ferro-cerebro-cutaneous syndrome
Cerebro-cutaneous syndrome with iron overload
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.
Id774151000
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
referentieset met complexe 'mapping' naar ICD-10
TargetG23.0
RuleTRUE
AdviceALWAYS G23.0
CorrelationSNOMED CT source code to target map code correlation not specified