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235903001: Metabolic and genetic disorder affecting the liver (disorder)

Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module
353629013 Metabolic and genetic disorder affecting the liver en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
624425013 Metabolic and genetic disorder affecting the liver (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

44 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic and genetic disorder affecting the liver Is a Disease of liver true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Metabolic and genetic disorder affecting the liver Is a Metabolic disease true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Metabolic and genetic disorder affecting the liver Finding site Liver structure true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient. Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Congenital cystic disease of liver Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Liver calculus Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Navajo neurohepatopathy Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
FTH1-related iron overload Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Dubin-Johnson syndrome Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Alpha-1-antitrypsin deficiency Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Mucopolysaccharidosis, MPS-II Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Progressive intrahepatic cholestasis Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Synthetic defect of bile acids Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Ferro-cerebro-cutaneous syndrome Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Contiguous ABCD1 DXS1357E deletion syndrome (disorder) Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Antichymotrypsin deficiency-alpha-1 Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Wilson's disease Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Glycogen storage disease, hepatic form Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) Is a True Metabolic and genetic disorder affecting the liver Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly

This concept is not in any reference sets

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