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.

Id	1260140008
Status	Primitive

Associated morphology	troebeling
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site	structuur van lever
Occurrence	neonataal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

521432

SNOMED CT to ICD-10 extended map

Target	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	P59.8
Rule	TRUE
Advice	ALWAYS P59.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified