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.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS G23.0
CorrelationSNOMED CT source code to target map code correlation not specified