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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
Congenital cataract-hearing loss-severe developmental delay syndrome is 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.
Id773648002
StatusPrimitive
Finding sitestructuur van oor
Occurrencecongenitaal
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ12.0
TermCongenitaal cataract
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
TargetF89
TermNiet gespecificeerde stoornis van de psychische ontwikkeling
SNOMED CT to Orphanet simple map300313
SNOMED CT to ICD-10 extended map
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