1237346001: Caroli syndrome (disorder)

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

\Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\...

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

\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome

\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Cystic dilation of intrahepatic duct\Caroli syndrome
\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome
\Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Cystic dilation of intrahepatic duct\Caroli syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Caroli syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Cystic dilation of intrahepatic duct\Caroli syndrome
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome
\Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Cystic dilation of intrahepatic duct\Caroli syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Caroli syndrome
\Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Caroli syndrome

Status: current. Date: 30-Sep 2022

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
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 Inactive 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	Is a	Cystic dilation of intrahepatic duct	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Caroli syndrome	Is a	Congenital hepatic fibrosis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Caroli syndrome	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Caroli syndrome	Associated morphology	Fibrosis	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Caroli syndrome	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Caroli syndrome	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Caroli syndrome	Pathological process (attribute)	Pathological developmental process	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Caroli syndrome	Associated morphology	Cystic dilatation	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	2
Caroli syndrome	Finding site	Structure of intrahepatic bile duct (body structure)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	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
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	Inactive	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