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1237346001: 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Caroli syndrome Is a Cystic dilation of intrahepatic duct true Inferred relationship Some
Caroli syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Caroli syndrome Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Caroli syndrome Is a Congenital hepatic fibrosis true Inferred relationship Some
Caroli syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Caroli syndrome Occurrence Congenital true Inferred relationship Some 1
Caroli syndrome Finding site Liver structure true Inferred relationship Some 1
Caroli syndrome Associated morphology Fibrosis true Inferred relationship Some 1
Caroli syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Caroli syndrome Finding site Structure of wall of intrahepatic biliary tract false Inferred relationship Some 2
Caroli syndrome Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 2
Caroli syndrome Finding site Structure of intrahepatic bile duct (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

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