74162007: Progressive intrahepatic cholestasis (disorder)

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

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

\Disease of liver\Chronic liver disease\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

\Cholestasis\Intrahepatic cholestasis\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

\Digestive system finding (finding)\Finding of biliary tract\Disorder of biliary tract\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Digestive system finding (finding)\Finding of biliary tract\Intrahepatic cholestasis\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Digestive system finding (finding)\Liver finding\Disease of liver\Chronic liver disease\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Digestive system finding (finding)\Liver finding\Cholestasis\Intrahepatic cholestasis\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic liver disease\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Intrahepatic cholestasis\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Cholestasis\Intrahepatic cholestasis\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Chronic digestive system disorder\Chronic liver disease\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\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 familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Chronic disease\Chronic metabolic disorder\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
\Disease\Chronic disease\Chronic digestive system disorder\Chronic liver disease\Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Disease of liver	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Disorder of bilirubin metabolism and excretion	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Finding site	Liver structure	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Occurrence	Congenital	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Hepatic porphyria	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Disorder of biliary tract	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Disease of liver	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Finding site	Intrahepatic biliary tract structure	true	Inferred relationship	Some	1
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Disorder of bile duct (disorder)	false	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Clinical course	Progressive	true	Inferred relationship	Some	2
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Disorder of bilirubin metabolism	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Chronic liver disease	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Metabolic and genetic disorder affecting the liver	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Is a	Intrahepatic cholestasis	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage.	Is a	True	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Inferred relationship	Some
An infantile hereditary disorder of bile formation that is hepatocellular in origin and associated with extrahepatic features. Onset occurs mostly during infancy with clinical signs of cholestasis with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Caused by mutations in the ATP8B1 gene (18q21-22) encoding the FIC1 protein expressed at the canalicular membrane of hepatocytes as well as in other epithelia. Transmission is autosomal recessive.	Is a	True	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Inferred relationship	Some
Progressive familial intrahepatic cholestasis type 3	Is a	True	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Inferred relationship	Some
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis.	Is a	True	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Inferred relationship	Some
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.	Is a	True	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
5449630011	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
4632851000241117	cholestase intrahépatique progressive familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435341001000112	Cholestase, familiäre intrahepatische progressive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module