Cholestasis in newborn
Disorder of biliary tract
Disorder of liver due to disorder of amino acid metabolism
Intrahepatic cholestasis
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Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
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.
neonatale intrahepatische cholestase door citrinedeficiëntie
neonatale intrahepatische cholestase door deficiëntie van citrine
Id717155003
StatusPrimitive
Due toCitrin deficiency
OccurrenceNeonatal
Finding siteLiver structure
Finding siteBiliary tract structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetP78.8
RuleTRUE
AdviceALWAYS P78.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE72.2
RuleTRUE
AdviceALWAYS E72.2
CorrelationSNOMED CT source code to target map code correlation not specified