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1220580006: 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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isolated neonatal sclerosing cholangitis (disorder) est un(e) (attribut) Neonatal disorder true Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) est un(e) (attribut) Sclerosing cholangitis true Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) est un(e) (attribut) troubles de l'appareil digestif spécifiques du fœtus ou du nouveau-né true Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) survenue (attribut) néonatal true Inferred relationship Some 1
Isolated neonatal sclerosing cholangitis (disorder) localisation d'une constatation (attribut) structure des voies biliaires true Inferred relationship Some 1
Isolated neonatal sclerosing cholangitis (disorder) morphologie associée (attribut) Sclerosing inflammation true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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