aandoening van galweg	cholestase bij neonaat	complicatie van lever door stoornis van aminozuurmetabolisme	intrahepatische cholestase
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neonatale intrahepatische cholestase door citrinedeficiëntie (aandoening)
	neonatale intrahepatische cholestase door citrinedeficiëntie
	neonatale intrahepatische cholestase door deficiëntie van citrine
	Neonatal intrahepatic cholestasis due to citrin deficiency
	Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction and hypoglycemia.

Id	717155003
Status	Primitive

Due to

citrinedeficiëntie

Occurrence

Finding site

structuur van intrahepatische galwegen

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	P78.8
Term	Overige gespecificeerde perinatale aandoeningen van spijsverteringsstelsel

Target	E72.2
Term	Stofwisselingsstoornissen van ureumcyclus

SNOMED CT to Orphanet simple map

247598

SNOMED CT to ICD-10 extended map

Target	P78.8
Rule	TRUE
Advice	ALWAYS P78.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E72.2
Rule	TRUE
Advice	ALWAYS E72.2
Correlation	SNOMED CT source code to target map code correlation not specified