900000000000509007: United States of America English language reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Language type reference set (foundation metadata concept)\English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)\US English

Status: current. Date: 31-Jan 2002

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
US English	Is a	English [International Organization for Standardization 639-1 code en] language reference set (foundation metadata concept)	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

Members	acceptabilityId
[X]Other delirium	Preferred (foundation metadata concept)
[X]Other delirium (disorder)	Preferred (foundation metadata concept)
© 2002-2025 International Health Terminology Standards Development Organisation (IHTSDO). All rights reserved. SNOMED CT®, was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.	Acceptable (foundation metadata concept)
1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency	Acceptable (foundation metadata concept)
131-I	Acceptable (foundation metadata concept)
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Preferred (foundation metadata concept)
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)	Preferred (foundation metadata concept)
75-Se	Acceptable (foundation metadata concept)
90-Y	Acceptable (foundation metadata concept)
99m-Tc	Acceptable (foundation metadata concept)
A component has been made inactive because it duplicates another component of the same type. E.g. A description that duplicates another description or a concept that duplicates another concept.	Preferred (foundation metadata concept)
A form of porto-sinusoidal vascular disease characterized histologically by varying degrees of phlebosclerosis, primarily involving the small and medium branches of the portal vein with heterogeneous distribution, in the absence of cirrhosis.	Preferred (foundation metadata concept)
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	Preferred (foundation metadata concept)
A grouper concept for substances that are used in medicinal products for medical treatment, and also psychoactive substances that have few or no legitimate medical uses or that are not legally available to the person using them.	Preferred (foundation metadata concept)
A medical or surgical procedure in which synthetic or biological material from a donor, whether from the same person, another individual, or an animal, is moved and implanted into a recipient. Transplanted organs typically retain their own intrinsic blood supply, requiring precise microsurgical reconnection to the recipient's blood circulation. While solid organs are almost exclusively transplanted and skin and tissues are generally grafted, the terms graft and transplant are sometimes used interchangeably depending on the context and medical specialty.	Preferred (foundation metadata concept)
A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.	Preferred (foundation metadata concept)
A period of time occurring before, during and or after a clinical entity	Preferred (foundation metadata concept)
A rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and sometimes other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract. The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction, which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms.	Preferred (foundation metadata concept)
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	Preferred (foundation metadata concept)
A rare benign liver tumor characterized by a prominent inflammatory infiltrate and often mimicking a malignant liver neoplasm. The tumor is frequently solitary with a predilection for the right lobe; however, multiple lesions are possible. There are two clinicopathological subtypes: fibrohistiocytic inflammatory pseudotumor of the liver and lymphoplasmacytic inflammatory pseudotumor of the liver. Patients present with non-specific clinical symptoms such as abdominal pain or discomfort, fever, and weight loss. The condition may be associated with other chronic inflammatory or autoimmune diseases.	Preferred (foundation metadata concept)
A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.	Preferred (foundation metadata concept)
A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.	Preferred (foundation metadata concept)
A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.	Preferred (foundation metadata concept)
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.	Preferred (foundation metadata concept)
A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.	Preferred (foundation metadata concept)
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.	Preferred (foundation metadata concept)
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.	Preferred (foundation metadata concept)
A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.	Preferred (foundation metadata concept)
A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.	Preferred (foundation metadata concept)
A rare hepatic and biliary tract tumor characterized by a growth pattern resembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.	Preferred (foundation metadata concept)
A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.	Preferred (foundation metadata concept)
A rare hepatic disease characterized by recurrence of hepatitis C virus infection after liver transplantation, leading to liver injury with features resembling those observed in the non-transplant graft, and typically developing after three months post-transplantation. The clinical course is highly variable, although patients most commonly develop progressive chronic liver disease with higher viral loads and more rapid fibrosis progression than in the immunocompetent population.	Preferred (foundation metadata concept)
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.	Preferred (foundation metadata concept)
A rare immune disease characterized by 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.	Preferred (foundation metadata concept)
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.	Preferred (foundation metadata concept)
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.	Preferred (foundation metadata concept)
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.	Preferred (foundation metadata concept)
A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases.	Preferred (foundation metadata concept)
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.	Preferred (foundation 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.	Preferred (foundation metadata concept)
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	Preferred (foundation metadata concept)
A rare vascular liver disease characterized by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.	Preferred (foundation metadata concept)
A rare vascular liver disease characterized by the absence of cirrhosis with or without portal hypertension and histological lesions involving portal venules or sinusoids. Patients may present either with specific clinical signs of portal hypertension (including gastric esophageal or ectopic varices, portal hypertensive bleeding or porto-systemic collaterals at imaging) or a histological lesion specific to porto sinusoidal vascular disease (including obliterative portal venopathy, nodular regenerative hyperplasmia or incomplete septal fibrosis or cirrhosis) or they may manifest clinical signs that are not specific to portal hypertension (such as ascites, platelet count <150.000/µl, increased spleen size ≥13 cm in the largest axis) together with a histological lesion including portal tract abnormalities, irregular distribution of the portal tracts and central veins, non-zonal sinusoidal dilation, mild perisinusoidal fibrosis. Possible associations with altered immunity, hematological diseases and prothrombotic conditions, infections, congenital or familial defects, or drug exposure are reported.	Preferred (foundation metadata concept)
A rare vascular liver disease characterized by widespread or focal cystic dilatation of sinusoidal blood-filled spaces of the liver without any known cause. Lesions can vary in diameter between few millimeters and several centimeters. The condition may remain asymptomatic or manifest with complications including rupture and intraperitoneal hemorrhage, hepatomegaly, portal hypertension, cholestasis, and liver failure.	Preferred (foundation metadata concept)
A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).	Preferred (foundation metadata concept)
A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	Preferred (foundation metadata concept)
A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, 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 hypoglycemia.	Preferred (foundation metadata concept)
A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.	Preferred (foundation metadata concept)
A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	Preferred (foundation 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.	Preferred (foundation metadata concept)
A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by 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.	Preferred (foundation metadata concept)
A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.	Preferred (foundation metadata concept)
A type of immune mediated hypersensitivity process that represents the underlying mechanism of allergic conditions.	Preferred (foundation metadata concept)
A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage.	Preferred (foundation metadata concept)
A vessel that could be a lymphatic vessel, arteriole, capillary or venule.	Preferred (foundation metadata concept)
Aagenaes syndrome	Acceptable (foundation metadata concept)
Abdomen	Preferred (foundation metadata concept)
Abdominal angiography	Acceptable (foundation metadata concept)
Abdominal blood vessel	Preferred (foundation metadata concept)
Abdominal visceral artery	Preferred (foundation metadata concept)
Abdominopelvic cavity	Preferred (foundation metadata concept)
Ablation	Acceptable (foundation metadata concept)
Ablation - action	Preferred (foundation metadata concept)
Ablation - action (qualifier value)	Preferred (foundation metadata concept)
Ablation of lesion of liver using computed tomography (CT) guidance	Acceptable (foundation metadata concept)
Ablation of lesion of liver using computed tomography guidance	Acceptable (foundation metadata concept)
Ablation of lesion of liver using computed tomography guidance (procedure)	Preferred (foundation metadata concept)
Ablation of liver using magnetic resonance imaging guidance	Acceptable (foundation metadata concept)
Ablation of liver using magnetic resonance imaging guidance (procedure)	Preferred (foundation metadata concept)
Abnormal	Preferred (foundation metadata concept)
Abnormal (qualifier value)	Preferred (foundation metadata concept)
Abnormal bile secretion	Preferred (foundation metadata concept)
Abnormal bile secretion (finding)	Preferred (foundation metadata concept)
Abnormal communication	Preferred (foundation metadata concept)
Abnormal communication (morphologic abnormality)	Preferred (foundation metadata concept)
Abnormal connection of hepatic vein to atrium	Preferred (foundation metadata concept)
Abnormal connection of hepatic vein to atrium (disorder)	Preferred (foundation metadata concept)
Abnormal hepatic function	Acceptable (foundation metadata concept)
Abnormal immune process	Preferred (foundation metadata concept)
Abnormal immune process (qualifier value)	Preferred (foundation metadata concept)
Abnormal liver function	Preferred (foundation metadata concept)
Abnormal liver function (finding)	Preferred (foundation metadata concept)
Abnormal liver lobulation	Preferred (foundation metadata concept)
Abnormal liver lobulation (disorder)	Preferred (foundation metadata concept)
Abnormal liver morphology	Acceptable (foundation metadata concept)
Abnormal number	Preferred (foundation metadata concept)
Abnormal number (morphologic abnormality)	Preferred (foundation metadata concept)
Abnormal position	Acceptable (foundation metadata concept)
Abnormal shape	Preferred (foundation metadata concept)
Abnormal shape (morphologic abnormality)	Preferred (foundation metadata concept)
Abnormal smallness	Preferred (foundation metadata concept)
Abnormal smallness (morphologic abnormality)	Preferred (foundation metadata concept)
Abnormal tissue appearance	Acceptable (foundation metadata concept)
Abnormality of hepatic vein	Preferred (foundation metadata concept)
Abnormality of hepatic vein (disorder)	Preferred (foundation metadata concept)
Abnormality of liver morphology	Acceptable (foundation metadata concept)
Abnormally fused structure	Preferred (foundation metadata concept)
Abnormally fused structure (morphologic abnormality)	Preferred (foundation metadata concept)
Abnormally hard consistency	Preferred (foundation metadata concept)
Abnormally hard consistency (finding)	Preferred (foundation metadata concept)
Abnormally opaque structure	Acceptable (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
900000000001115012	United States of America English language reference set	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001116013	US English	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001117016	United States of America English language reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)