1220580006: Isolated neonatal sclerosing cholangitis (disorder)

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary 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 (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Isolated neonatal sclerosing cholangitis (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\Cholangitis\Sclerosing cholangitis (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis (disorder)\Isolated neonatal sclerosing cholangitis (disorder)
\Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Cholangitis\Sclerosing cholangitis (disorder)\Isolated neonatal sclerosing cholangitis (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\Cholangitis\Sclerosing cholangitis (disorder)\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

5399956019 Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by 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

5399957011 Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterised by 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

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

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

5399956019 Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by 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

5399957011 Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterised by 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

3443111001000110 Sklerosierende Cholangitis, isolierte neonatale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3443111001000110 Sklerosierende Cholangitis, isolierte neonatale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Neonatal disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Sclerosing cholangitis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated neonatal sclerosing cholangitis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated neonatal sclerosing cholangitis (disorder)	Occurrence	Neonatal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Isolated neonatal sclerosing cholangitis (disorder)	Finding site	Biliary tract structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Isolated neonatal sclerosing cholangitis (disorder)	Associated morphology	Sclerosing inflammation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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
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
5399956019	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by 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
5399957011	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterised by 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
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
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
5399956019	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by 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
5399957011	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterised by 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
3443111001000110	Sklerosierende Cholangitis, isolierte neonatale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3443111001000110	Sklerosierende Cholangitis, isolierte neonatale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module