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syndroom van opticusatrofie, ataxie, perifere neuropathie en algehele ontwikkelingsachterstand (aandoening)
syndroom van opticusatrofie, ataxie, perifere neuropathie en algehele ontwikkelingsachterstand
syndroom van atrofie van nervus opticus, ataxie, aandoening van perifere zenuw en globale ontwikkelingsachterstand
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
A rare mitochondrial disease with characteristics of a variable clinical phenotype with the core features of optic atrophy, ataxia and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.
Id1222655009
StatusPrimitive
Has interpretationverlaagd
Interpretsgehoorfunctie
Has interpretationverlaagd
Interpretsspiertonus
Associated morphologyatrophia
Finding sitestructuur van nervus opticus
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified