1295517006: Progressive familial intrahepatic cholestasis type 4 (disorder)

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

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

\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)

\Cholestasis\Intrahepatic cholestasis\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)

\Digestive system finding (finding)\Finding of biliary tract\Disorder of biliary tract\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Digestive system finding (finding)\Finding of biliary tract\Intrahepatic cholestasis\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Digestive system finding (finding)\Liver finding\Disease of liver\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Digestive system finding (finding)\Liver finding\Cholestasis\Intrahepatic cholestasis\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)

\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Intrahepatic cholestasis\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Progressive familial intrahepatic cholestasis type 4 (disorder)
\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\Disorder of bile duct (disorder)\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Chronic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)
\Disease\Chronic disease\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5283828019 Progressive familial intrahepatic cholestasis type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5283829010 PFIC4 - progressive familial intrahepatic cholestasis type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283830017 Progressive familial intrahepatic cholestasis type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5283831018 Progressive familial intrahepatic cholestasis type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5283832013 TJP2 deficit en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5283833015 Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21. 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 familial intrahepatic cholestasis type 4 (disorder)	Is a	Progressive intrahepatic cholestasis	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis type 4 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
Progressive familial intrahepatic cholestasis type 4 (disorder)	Finding site	Intrahepatic biliary tract structure	true	Inferred relationship	Some	2
Progressive familial intrahepatic cholestasis type 4 (disorder)	Occurrence	Early childhood (qualifier value)	true	Inferred relationship	Some	2

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
5283828019	Progressive familial intrahepatic cholestasis type 4 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283829010	PFIC4 - progressive familial intrahepatic cholestasis type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283830017	Progressive familial intrahepatic cholestasis type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5283831018	Progressive familial intrahepatic cholestasis type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5283832013	TJP2 deficit	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5283833015	Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core