|||||||||||
syndroom van congenitaal cataract, gehoorverlies en ernstige ontwikkelingsachterstand (aandoening)
syndroom van congenitaal cataract, gehoorverlies en ernstige ontwikkelingsachterstand
syndroom van congenitaal cataract, gehoorverlies en ernstige vertraging in ontwikkeling
letale neurodegeneratieve stoornis door kopertransportdefect
Congenital cataract, hearing loss, severe developmental delay syndrome
Lethal neurodegenerative disorder due to copper transport defect
Congenital cataract, deafness, severe developmental delay syndrome
A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.
Id773648002
StatusPrimitive
Finding sitestructuur van auris
Occurrencecongenitaal
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF89
RuleTRUE
AdviceALWAYS F89
CorrelationSNOMED CT source code to target map code correlation not specified