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

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

\Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver

\Digestive system finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver

\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 liver\Metabolic and genetic disorder affecting the liver
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver
\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 liver\Metabolic and genetic disorder affecting the liver
\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 liver\Metabolic and genetic disorder affecting the liver

\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Inferred relationship	Existential restriction modifier (core metadata concept)
Metabolic and genetic disorder affecting the liver	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Metabolic and genetic disorder affecting the liver	Finding site	Liver structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperbilirubinemia	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Antichymotrypsin deficiency-alpha-1	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Liver calculus	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-1-antitrypsin deficiency (disorder)	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-II	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cystic disease of liver	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatogenous chronic copper poisoning	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemochromatosis	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Wilson's disease	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Glycogen storage disease, hepatic form	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypercholanemia (disorder)	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Ferro-cerebro-cutaneous syndrome (disorder)	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Navajo neurohepatopathy	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Dubin-Johnson syndrome	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
North American Indian childhood cirrhosis	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Synthetic defect of bile acids (disorder)	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Ferritin heavy chain 1-related iron overload (disorder)	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive intrahepatic cholestasis	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare subtype of hemochromatosis characterized 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 hemochromatosis is not enough to fully explain the clinical picture of the patient.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
353629013	Metabolic and genetic disorder affecting the liver	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
146261000077111	troubles métaboliques et génétiques affectant le foie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
146261000077111	troubles métaboliques et génétiques affectant le foie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module