1220580006: geïsoleerde neonatale scleroserende cholangitis (aandoening)

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

\Digestive system finding (finding)\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Isolated neonatal sclerosing cholangitis (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)

\Finding of neonate\Neonatal disorder\Isolated neonatal sclerosing cholangitis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5045247013 Isolated neonatal sclerosing cholangitis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5045248015 Isolated neonatal sclerosing cholangitis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13555331000146117 geïsoleerde neonatale scleroserende cholangitis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13555341000146113 geïsoleerde scleroserende cholangitis bij neonaat nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13555351000146111 geïsoleerde neonatale scleroserende cholangitis (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13555361000146114 geïsoleerde scleroserende cholangitis bij pasgeborene nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5045249011 A rare genetic biliary tract disease with characteristics of severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits and intralobular bile-pigment accumulations. Some patients may also have renal 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
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Neonatal disorder	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Sclerosing cholangitis	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis (disorder)	Occurrence	Neonatal	true	Inferred relationship	Some	1
Isolated neonatal sclerosing cholangitis (disorder)	Finding site	Biliary tract structure	true	Inferred relationship	Some	1
Isolated neonatal sclerosing cholangitis (disorder)	Associated morphology	Sclerosing inflammation	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5045247013	Isolated neonatal sclerosing cholangitis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045248015	Isolated neonatal sclerosing cholangitis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13555331000146117	geïsoleerde neonatale scleroserende cholangitis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13555341000146113	geïsoleerde scleroserende cholangitis bij neonaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13555351000146111	geïsoleerde neonatale scleroserende cholangitis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13555361000146114	geïsoleerde scleroserende cholangitis bij pasgeborene	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5045249011	A rare genetic biliary tract disease with characteristics of severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits and intralobular bile-pigment accumulations. Some patients may also have renal disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core