717155003: Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\...

\Disease of liver\Disorder of liver due to disorder of amino acid metabolism (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Disease of liver\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)

\Cholestasis\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Cholestasis\Intrahepatic cholestasis\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Disorder of liver due to disorder of amino acid metabolism (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Finding of trunk structure\Liver finding\Disease of liver\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Finding of trunk structure\Liver finding\Cholestasis\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Finding of trunk structure\Liver finding\Cholestasis\Intrahepatic cholestasis\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Disorder of liver due to disorder of amino acid metabolism (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)

\Disease\Fetal and/or neonatal disorder\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Disease\Disorder of body system\Disease of liver\Disorder of liver due to disorder of amino acid metabolism (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Disease\Disorder of body system\Disease of liver\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Disorder of liver due to disorder of amino acid metabolism (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Cholestasis in newborn (disorder)\Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)

Status: current. Date: 31-Jul 2016

Descriptions:

Id Description Lang Type Status Case? Module

3308535015 Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308536019 Neonatal intrahepatic cholestasis due to citrin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308539014 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. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3308540011 Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction and hypoglycaemia. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5401486017 A mild subtype of citrin deficiency characterized clinically by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401487014 A mild subtype of citrin deficiency characterised clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction, and hypoglycaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	Is a	Cholestasis in newborn (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	Is a	Intrahepatic cholestasis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	Is a	Disorder of liver due to disorder of amino acid metabolism (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	Occurrence	Neonatal	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	Finding site	Intrahepatic biliary tract structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	Due to	Citrin deficiency (disorder)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308535015	Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308536019	Neonatal intrahepatic cholestasis due to citrin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308539014	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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308540011	Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction and hypoglycaemia.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401486017	A mild subtype of citrin deficiency characterized clinically by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401487014	A mild subtype of citrin deficiency characterised clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction, and hypoglycaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core