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syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie (aandoening)
syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie
syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke handicap en faciale dysmorfie
syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, mentale retardatie en faciale dysmorfie
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome
A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
Id773548008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified