1155841005: Progressive familial intrahepatic cholestasis type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2

\Digestive system finding\Finding of biliary tract\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Digestive system finding\Liver finding\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Digestive system finding\Disorder of digestive system\Perinatal digestive system disorders\Progressive familial intrahepatic cholestasis type 2

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder\Progressive familial intrahepatic cholestasis type 2

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of fetus or newborn\Perinatal digestive system disorders\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of fetus or newborn\Neonatal disorder\Neonatal metabolic disorder\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of body system\Disorder of digestive system\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of body system\Disorder of digestive system\Perinatal digestive system disorders\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Metabolic disease\Neonatal metabolic disorder\Progressive familial intrahepatic cholestasis type 2
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Bilirubin metabolism disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Chronic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2
\Disease\Chronic disease\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 2

Status: current, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4570355010 Progressive familial intrahepatic cholestasis type 2 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4570356011 Progressive familial intrahepatic cholestasis type 2 en Synonym Active Case insensitive SNOMED CT core

4570360014 PFIC2 - progressive familial intrahepatic cholestasis type 2 en Synonym Active Case sensitive SNOMED CT core

4570361013 BSEP (bile salt export pump) deficiency en Synonym Active Case sensitive SNOMED CT core

4570362018 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive familial intrahepatic cholestasis type 2	Is a	Progressive intrahepatic cholestasis	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis type 2	Clinical course	Progressive	true	Inferred relationship	Some	2
Progressive familial intrahepatic cholestasis type 2	Is a	Perinatal digestive system disorders	true	Inferred relationship	Some
Progressive familial intrahepatic cholestasis type 2	Occurrence	Neonatal	true	Inferred relationship	Some	1
Progressive familial intrahepatic cholestasis type 2	Finding site	Intrahepatic biliary tract structure	true	Inferred relationship	Some	1
Progressive familial intrahepatic cholestasis type 2	Is a	Neonatal metabolic disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4570355010	Progressive familial intrahepatic cholestasis type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4570356011	Progressive familial intrahepatic cholestasis type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
4570360014	PFIC2 - progressive familial intrahepatic cholestasis type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
4570361013	BSEP (bile salt export pump) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
4570362018	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.	en	Definition	Active	Case sensitive	SNOMED CT core