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1237346001: Caroli syndrome (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\...

\Lesion of liver (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Lesion of liver (disorder)\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome (disorder)

\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)

\Digestive system finding (finding)\Finding of biliary tract\Disease of biliary tract\Disorder of bile duct (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Digestive system finding (finding)\Liver finding\Disease of liver\Lesion of liver (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Digestive system finding (finding)\Liver finding\Disease of liver\Lesion of liver (disorder)\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Digestive system finding (finding)\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver (disorder)\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of biliary tract\Disorder of bile duct (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Caroli syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Caroli syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Caroli syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver (disorder)\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of biliary tract\Disorder of bile duct (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver (disorder)\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of biliary tract\Disorder of bile duct (disorder)\Cystic dilation of intrahepatic duct\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Caroli syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital abnormality of liver and biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5097825015 Caroli syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5097826019 Caroli syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400267015 A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400268013 A rare genetic hepatic disease characterised by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5097825015 Caroli syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5097826019 Caroli syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5097827011 A rare genetic hepatic disease with characteristics of multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400267015 A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400268013 A rare genetic hepatic disease characterised by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease. 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
Caroli syndrome (disorder)	Is a	Cystic dilation of intrahepatic duct	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Caroli syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Caroli syndrome (disorder)	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Caroli syndrome (disorder)	Is a	Congenital hepatic fibrosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Caroli syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Caroli syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caroli syndrome (disorder)	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caroli syndrome (disorder)	Associated morphology	Fibrosis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caroli syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caroli syndrome (disorder)	Finding site	Structure of wall of intrahepatic biliary tract (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Caroli syndrome (disorder)	Associated morphology	Cystic dilatation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Caroli syndrome (disorder)	Finding site	Structure of intrahepatic bile duct	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5097825015	Caroli syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5097826019	Caroli syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400267015	A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400268013	A rare genetic hepatic disease characterised by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5097825015	Caroli syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5097826019	Caroli syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5097827011	A rare genetic hepatic disease with characteristics of multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400267015	A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400268013	A rare genetic hepatic disease characterised by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core