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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\...

\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency

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

\Digestive system finding\Finding of biliary tract\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Finding of biliary tract\Intrahepatic cholestasis\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Liver finding\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Liver finding\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Liver finding\Cholestasis\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Liver finding\Cholestasis\Intrahepatic cholestasis\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency
\Digestive system finding\Disorder of digestive system\Perinatal digestive system disorders\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Finding of biliary tract\Intrahepatic cholestasis\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Cholestasis\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Cholestasis\Intrahepatic cholestasis\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency

\Finding of neonate\Neonatal disorder\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency

\Disease\Disorder of fetus or newborn\Perinatal digestive system disorders\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of fetus or newborn\Neonatal disorder\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of body system\Disorder of digestive system\Perinatal digestive system disorders\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Disorder of liver due to disorder of amino acid metabolism\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Cholestasis in newborn\Neonatal intrahepatic cholestasis due to citrin deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Neonatal intrahepatic cholestasis due to citrin deficiency

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3308536019 Neonatal intrahepatic cholestasis due to citrin deficiency en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal intrahepatic cholestasis due to citrin deficiency	Is a	Disorder of liver due to disorder of amino acid metabolism	true	Inferred relationship	Some
Neonatal intrahepatic cholestasis due to citrin deficiency	Due to	Citrin deficiency	true	Inferred relationship	Some	2
Neonatal intrahepatic cholestasis due to citrin deficiency	Is a	Intrahepatic cholestasis	true	Inferred relationship	Some
Neonatal intrahepatic cholestasis due to citrin deficiency	Is a	Disorder of biliary tract	true	Inferred relationship	Some
Neonatal intrahepatic cholestasis due to citrin deficiency	Is a	Cholestasis in newborn	true	Inferred relationship	Some
Neonatal intrahepatic cholestasis due to citrin deficiency	Occurrence	Neonatal	true	Inferred relationship	Some	1
Neonatal intrahepatic cholestasis due to citrin deficiency	Finding site	Liver structure	true	Inferred relationship	Some	3
Neonatal intrahepatic cholestasis due to citrin deficiency	Finding site	Biliary tract structure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308535015	Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308536019	Neonatal intrahepatic cholestasis due to citrin deficiency	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core