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

\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver
\Finding of trunk structure (finding)\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)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Metabolic and genetic disorder affecting the liver

\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\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\Disorder of abdomen (disorder)\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:

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

2030361000005118 Metabolisk og genetisk forstyrrelse, der afficerer leveren da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	Some
Metabolic and genetic disorder affecting the liver	Is a	Metabolic disease	true	Inferred relationship	Some
Metabolic and genetic disorder affecting the liver	Finding site	Liver structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperbilirubinemia	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Antichymotrypsin deficiency-alpha-1	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Liver calculus	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Glycogen storage disease	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Alpha-1-antitrypsin deficiency	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Congenital cystic disease of liver	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Kronisk hepatogen kobberforgiftning	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Hemochromatosis	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Wilson's disease	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Glycogen storage disease, hepatic form	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
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	Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
A rare genetic mitochondrial DNA depletion syndrome characterised by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminaemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycaemia.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Dubin-Johnson syndrome	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis.	Is a	False	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
Synthetic defect of bile acids	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some
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	Inferred relationship	Some
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.	Is a	True	Metabolic and genetic disorder affecting the liver	Inferred relationship	Some

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
2030361000005118	Metabolisk og genetisk forstyrrelse, der afficerer leveren	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)