1155913007: Progressive familial intrahepatic cholestasis type 1 (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 1
• \Digestive system finding\Finding of biliary tract\Disorder of biliary tract\Disorder of bile duct\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Digestive system finding\Liver finding\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \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 1
• \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 1
• \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 1
• \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 1
• \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 1
• \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 1
• \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 1
• \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 1
• \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 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Disease\Disorder of body system\Disorder of digestive system\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \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 1
• \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 1
• \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 1
• \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 1
• \Disease\Metabolic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Disease\Metabolic disease\Disorder of porphyrin metabolism\Bilirubin metabolism disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Disease\Chronic disease\Chronic metabolic disorder\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1
• \Disease\Chronic disease\Chronic digestive system disorder\Chronic liver disease\Progressive intrahepatic cholestasis\Progressive familial intrahepatic cholestasis type 1

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4570714014	Byler syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4570715010	Progressive familial intrahepatic cholestasis type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4570716011	PFIC1 - progressive familial intrahepatic cholestasis type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
4570717019	Progressive familial intrahepatic cholestasis type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
4570718012	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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