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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

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
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
3308535015 Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Active 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 Active 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
3423211001000117 Neonatale intrahepatische Cholestase durch Citrin-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903081000172115 cholestase intrahépatique néonatale par déficit en citrine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983761000172114 NICCD - neonatal intrahepatic cholestasis due to citrin deficiency fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
903081000172115 cholestase intrahépatique néonatale par déficit en citrine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
983761000172114 NICCD - neonatal intrahepatic cholestasis due to citrin deficiency fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423211001000117 Neonatale intrahepatische Cholestase durch Citrin-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Due to Citrin deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Is a Intrahepatic cholestasis true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Is a Disease of biliary tract true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Is a Cholestasis in newborn (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Finding site Biliary tract structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Is a Disorder of liver due to disorder of amino acid metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Is a Disorder of bile duct (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Finding site Structure of intrahepatic biliary tree (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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