aandoening van spijsverteringsstelsel specifiek voor foetus of neonaat
algehele ontwikkelingsachterstand
congenitaal cataract
genetische aandoening
leverfalen
neonatale aandoening
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syndroom van algehele ontwikkelingsachterstand, congenitaal cataract en ernstige neonatale hepatopathie (aandoening)
syndroom van algehele ontwikkelingsachterstand, congenitaal cataract en ernstige neonatale hepatopathie
syndroom van globale ontwikkelingsachterstand, congenitaal cataract en ernstige neonatale aandoening van lever
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.
Id1260140008
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van lever
Occurrenceneonataal
SNOMED CT to Orphanet simple map521432
SNOMED CT to ICD-10 extended map
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetP59.8
RuleTRUE
AdviceALWAYS P59.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified