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syndroom van progressieve encefalopathie, oedeem, hypsaritmie en optische atrofie (aandoening)
syndroom van progressieve encefalopathie, oedeem, hypsaritmie en optische atrofie
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome
PEHO-like syndrome
A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16.
Id770678005
StatusPrimitive
Associated morphologylymfoedeem
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified