74162007: progressieve intrahepatische cholestase (aandoening)

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

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

\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis

\Cholestasis\Intrahepatic cholestasis\Progressive intrahepatic cholestasis

\Digestive system finding (finding)\Finding of biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Finding of biliary tract\Intrahepatic cholestasis\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Liver finding\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Liver finding\Cholestasis\Intrahepatic cholestasis\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Intrahepatic cholestasis\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Cholestasis\Intrahepatic cholestasis\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive intrahepatic cholestasis
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Progressive intrahepatic cholestasis
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Progressive intrahepatic cholestasis
\Disease\Chronic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis
\Disease\Chronic disease\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

123149016 Progressive intrahepatic cholestasis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

123151017 Familial intrahepatic cholestasis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

123152012 Fatal intrahepatic cholestasis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

814631018 Progressive intrahepatic cholestasis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4570357019 Progressive familial intrahepatic cholestasis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4570358012 PFIC - progressive familial intrahepatic cholestasis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

96161000146119 progressieve intrahepatische cholestase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

941301000146110 progressieve intrahepatische cholestase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4570359016 A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice. 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
Progressive intrahepatic cholestasis	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Disease of liver	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Disorder of bilirubin metabolism and excretion	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Finding site	Liver structure	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Occurrence	Congenital	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Hepatic porphyria	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Disorder of biliary tract	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Disease of liver	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Finding site	Intrahepatic biliary tract structure	true	Inferred relationship	Some	1
Progressive intrahepatic cholestasis	Is a	Disorder of bile duct (disorder)	false	Inferred relationship	Some
Progressive intrahepatic cholestasis	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Progressive intrahepatic cholestasis	Is a	Disorder of bilirubin metabolism	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Chronic liver disease	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Intrahepatic cholestasis	true	Inferred relationship	Some
Progressive intrahepatic cholestasis	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Progressive familial intrahepatic cholestasis type 2 (disorder)	Is a	True	Progressive intrahepatic cholestasis	Inferred relationship	Some
Progressive familial intrahepatic cholestasis type 1 (disorder)	Is a	True	Progressive intrahepatic cholestasis	Inferred relationship	Some
Progressive familial intrahepatic cholestasis type 3	Is a	True	Progressive intrahepatic cholestasis	Inferred relationship	Some
North American Indian childhood cirrhosis	Is a	True	Progressive intrahepatic cholestasis	Inferred relationship	Some
Progressive familial intrahepatic cholestasis type 4 (disorder)	Is a	True	Progressive intrahepatic cholestasis	Inferred relationship	Some
progressieve familiaire intrahepatische cholestase type 1	Is a	False	Progressive intrahepatic cholestasis	Inferred relationship	Some
progressieve familiaire intrahepatische cholestase type 2	Is a	False	Progressive intrahepatic cholestasis	Inferred relationship	Some
progressieve familiaire intrahepatische cholestase type 3	Is a	False	Progressive intrahepatic cholestasis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
123149016	Progressive intrahepatic cholestasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
123151017	Familial intrahepatic cholestasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
123152012	Fatal intrahepatic cholestasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
814631018	Progressive intrahepatic cholestasis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4570357019	Progressive familial intrahepatic cholestasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4570358012	PFIC - progressive familial intrahepatic cholestasis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96161000146119	progressieve intrahepatische cholestase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
941301000146110	progressieve intrahepatische cholestase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4570359016	A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core