1220580006: Isolated neonatal sclerosing cholangitis (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis
\Digestive system finding\Disorder of digestive system\Inflammatory disorder of digestive system\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Isolated neonatal sclerosing cholangitis
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis
\Digestive system finding\Disorder of digestive system\Perinatal digestive system disorders\Isolated neonatal sclerosing cholangitis

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Isolated neonatal sclerosing cholangitis

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

5045248015 Isolated neonatal sclerosing cholangitis en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated neonatal sclerosing cholangitis	Is a	Neonatal disorder	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis	Is a	Sclerosing cholangitis	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis	Is a	Perinatal digestive system disorders	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Isolated neonatal sclerosing cholangitis	Occurrence	Neonatal	true	Inferred relationship	Some	1
Isolated neonatal sclerosing cholangitis	Finding site	Biliary tract structure	true	Inferred relationship	Some	1
Isolated neonatal sclerosing cholangitis	Associated morphology	Sclerosing inflammation	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5045247013	Isolated neonatal sclerosing cholangitis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5045248015	Isolated neonatal sclerosing cholangitis	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core