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


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

Descriptions:

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)


1317531 members. Search Members:

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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 Inferred relationship Some

Members acceptabilityId
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. Preferred (foundation metadata concept)
A form of therapy aimed at supporting or developing socially valued roles for individuals or groups who are perceived to be of lesser value by the society in which they live. Preferred (foundation metadata concept)
A form of thoracic outlet syndrome that manifests as unilateral (rarely bilateral) arm pain and cyanosis. The disease occurs in young adults, usually after excessive arm activity. The characteristic symptoms, caused by venous obstruction, are arm swelling, cyanosis and pain. Repetitive arm motion and compression of the subclavian vein in the neck (between the clavicle and the first rib) leads to scar tissue that can predispose to thrombosis due to narrowing of vessels. Preferred (foundation metadata concept)
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). The type 1 disease is considered to be the most common form of VWD, caused by mutations in the VWF gene (12p13.3). Transmitted in an autosomal dominant manner. Preferred (foundation metadata concept)
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive. Preferred (foundation metadata concept)
A fracture of the articular surface of a bone, produced by a force transmitted from the articular surface of a contiguous bone across the joint and through the articular cartilage to the subchondral trabeculae of the fractured bone. The cartilage itself is not necessarily torn. Preferred (foundation metadata concept)
A fracture that occurs in proximity to an implant. Preferred (foundation metadata concept)
A fracture that occurs when the mechanical strength of a bone is reduced to the point at which a stress that would not fracture a healthy bone breaks the weak one. Preferred (foundation metadata concept)
A frame consisting of 3 or 4 legs which aids a person with walking. Some walking frames come with wheels at the front to help move the frame. The frame is moved by either lifting the entire frame or by tilting the frame off the back legs and onto the front wheels. Preferred (foundation metadata concept)
A galloping sound on cardiac auscultation because of an abnormally audible fourth heart sound. Preferred (foundation metadata concept)
A galloping sound on cardiac auscultation because of an abnormally audible third heart sound. Preferred (foundation metadata concept)
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis Acceptable (foundation metadata concept)
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis (disorder) Preferred (foundation metadata concept)
A gas supplied under pressure which is entirely gaseous at - 50 °C. Preferred (foundation metadata concept)
A gas supplied under pressure, which is partially liquid (gas over liquid) at -50 °C. Preferred (foundation metadata concept)
A gas which liquifies at 1.013 bar at a temperature below -150 °C. Preferred (foundation metadata concept)
A gastroenteral route that begins in the intestinal tract (within the small and large intestines). Preferred (foundation metadata concept)
A gastroenteral route that begins through a surgically created opening into the gastrointestinal tract. Preferred (foundation metadata concept)
A gastroenteral route that begins within the esophagus. Preferred (foundation metadata concept)
A gastroenteral route that begins within the stomach. Preferred (foundation metadata concept)
A general position for a supernumerary tooth located somewhere other than the midline of the dental arch. Preferred (foundation metadata concept)
A general term used to refer to any damage to or abnormality of the joint structure or surrounding soft tissue resulting in a limitation of joint movement. Preferred (foundation metadata concept)
A generalized onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic-astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. Preferred (foundation metadata concept)
A generalized onset tonic-clonic epileptic seizure of more than 5 minutes duration. Preferred (foundation metadata concept)
A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone. Preferred (foundation metadata concept)
A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbor PVs in HBOC genes do not have a suggestive family history. Preferred (foundation metadata concept)
A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant. Preferred (foundation metadata concept)
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion. Preferred (foundation metadata concept)
A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. Preferred (foundation metadata concept)
A genetic syndrome characterized by the absence of all four limbs. Preferred (foundation metadata concept)
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. Preferred (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). 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 genodermatosis with characteristics of the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. Preferred (foundation metadata concept)
A gingival route that begins beneath the free margin of the gingivae. Preferred (foundation metadata concept)
A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). Preferred (foundation metadata concept)
A graft derived from hair-bearing skin. Preferred (foundation metadata concept)
A graft of small pieces or strips placed apart from each other on the wound or defect. Preferred (foundation metadata concept)
A graft of the epidermis and less than the entire thickness of the dermis of the skin. Preferred (foundation metadata concept)
A graft of the epidermis and the entire thickness of the dermis of the skin. Preferred (foundation metadata concept)
A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs. Preferred (foundation metadata concept)
A greater than expected number of suicides occurring either close in time, place or both. Preferred (foundation metadata concept)
A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes. Preferred (foundation metadata concept)
A group of disorders including ankylosing spondylitis, axial spondylarthritis, spondyloarthritis due to inflammatory bowel disease, and other conditions. They share the common features of inflammation of axial joints, asymmetric oligoarthritis, dactylitis, and enthesitis. Preferred (foundation metadata concept)
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. Preferred (foundation metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Preferred (foundation metadata concept)
A group of epilepsies characterized by age-dependent occurrence of drug responsive focal seizures in otherwise normal children. Seizures are focal motor or sensory with or without impaired awareness and may evolve to bilateral tonic-clonic seizures. Remission usually occurs by puberty. Development and cognition are typically normal. Neurological examination is normal. No significant structural lesions of the brain are present, and presumed genetic factors have an important role. The electroencephalogram (EEG) background activity is normal. Seizure semiology and EEG features are specific for each of the syndromes included in this group. Preferred (foundation metadata concept)
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. Preferred (foundation metadata concept)
A group of rare acute leukemias of ambiguous lineage characterized by the presence of separate populations of blasts of more than one lineage (bilineal), a single population of blasts coexpressing antigens of more than one lineage (biphenotypic), or a combination thereof. The diagnosis relies on immunophenotyping, the T-cell component being characterized by strong expression of cytoplasmic CD3, usually in the absence of surface CD3, the B-cell component expressing CD19, almost always together with CD10, cCD79a, CD22, or PAX5, while the most specific hallmark of the myeloid component is the presence of myeloperoxidase in the blast cytoplasm. Preferred (foundation metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Preferred (foundation metadata concept)
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Preferred (foundation metadata concept)
A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. Preferred (foundation metadata concept)
A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. Preferred (foundation metadata concept)
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. Preferred (foundation metadata concept)
A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. Preferred (foundation metadata concept)
A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage. Preferred (foundation metadata concept)
A grouper concept for annotation attributes that are represented as additional relationships. 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 grouping of primary and secondary sites of somatic dysfunction describing a three-segment complex fundamental to dysfunction in a mobile system. Each adjacent segment, above and below the primary locus, demonstrates opposing asymmetries to that locus. Preferred (foundation metadata concept)
A grouping term for a collective of languages known as the Altaic languages. Preferred (foundation metadata concept)
A health examination for a member of a population with limited access to healthcare services, such as those on low income, those from a minority ethnic background or those with a language barrier. Preferred (foundation metadata concept)
A healthcare professional that possesses expertise in a clinical domain and provides advice on the diagnosis and management of individuals with conditions related to that domain. Preferred (foundation metadata concept)
A helmet that is worn as protection for the head in the event of a vehicular accident Preferred (foundation metadata concept)
A hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. Preferred (foundation metadata concept)
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. Preferred (foundation metadata concept)
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. Preferred (foundation metadata concept)
A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Preferred (foundation metadata concept)
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. Preferred (foundation metadata concept)
A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting. Preferred (foundation metadata concept)
A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits. Preferred (foundation metadata concept)
A history taken by a self-administered questionnaire Preferred (foundation metadata concept)
A horizontal misalignment in which one eye moves inward, towards the nose, only noticeable when binocular vision is disrupted, such as when one eye is closed or covered. Preferred (foundation metadata concept)
A horizontal misalignment in which one eye moves outward, away from the nose, only noticeable when binocular vision is disrupted, such as when one eye is closed or covered. Preferred (foundation metadata concept)
A horizontal streak found on the inner surface of the cheek at the level of the biting plane. It usually extends from the commissure to the posterior teeth and can extend to the inner lip mucosa and corners of the mouth. It is a common finding and most likely associated with pressure, frictional irritation, or sucking trauma from the facial surfaces of the teeth. Preferred (foundation metadata concept)
A hospital that has an established transplant program and performs transplant surgery. Preferred (foundation metadata concept)
A hypersensitivity condition of skin or mucous membranes at the site of direct surface contact with irritants or allergens. A general class that includes both immunologic and non-immunologic conditions. Preferred (foundation metadata concept)
A keratotic cutaneous polyp containing abundant connective tissue. Preferred (foundation metadata concept)
A landmark point defined as the tip of the bony anterior nasal spine at the inferior margin of the piriform aperture, in the midsagittal plane. Preferred (foundation metadata concept)
A large organ in the thorax, abdomen, or pelvis Preferred (foundation metadata concept)
A large, local allergic reaction following a mosquito bite often accompanied by systemic symptoms such as a fever. Symptoms usually occur within hours of the mosquito bite and are caused by an immunologic response to proteins in mosquito saliva. Preferred (foundation metadata concept)
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. Preferred (foundation metadata concept)
A legal order for a diet regime. Preferred (foundation metadata concept)
A legal order for a parenteral nutrition infusion. Preferred (foundation metadata concept)
A legal order for an enteral nutrition infusion via a feeding tube. Preferred (foundation metadata concept)
A legal order to dispense and possibly prepare a substance or physical object Preferred (foundation metadata concept)
A lesion as a result of galvanic current in the oral cavity due to the presence of two or more dissimilar metals in dental restorations that are bathed in saliva, or a single metal restoration and two electrolytes, saliva and pulp tissue fluid, thus producing an electrolytic cell and an electric current. When such restorations touch each other, the current may be high enough to irritate the dental pulp and cause sharp pain. The anodic restoration or areas of a restoration are subject to electrolytic corrosion. Preferred (foundation metadata concept)
A less aggressive and self-limited pathologic process that can develop without any obvious eliciting factor and is characterized by exposed necrotic bone involving the lingual mandible approximately at the level of the mylohyoid ridge. Preferred (foundation metadata concept)
A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterized by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms. Preferred (foundation metadata concept)
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. Preferred (foundation metadata concept)
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Preferred (foundation metadata concept)
A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toenail dystrophy and sparse hair. Preferred (foundation metadata concept)
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. Preferred (foundation metadata concept)
A ligation where the surgical suture serves as a ligature. Preferred (foundation metadata concept)
A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement. Preferred (foundation metadata concept)
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. Preferred (foundation metadata concept)
A line connecting the anterior nasal spine to the posterior nasal spine. Preferred (foundation metadata concept)
A line connecting the midpoint of the sella turcica (Sella) to the most anterior inferior point of chin (Gnathion). Preferred (foundation metadata concept)
A line extending from a constructed point representing the intersection of the inferior surface of the cranial base and the posterior outlines of the mandibular condyles to the most posterior inferior point on the outline of the angle of the mandible. Preferred (foundation metadata concept)
A line extending from the incisal tip of the most protrusive lower incisor thru the root tip. Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the anterior limit of the mandibular basal bone (b point). Preferred (foundation metadata concept)
A line extending from the intersection of the internasal and frontonasal sutures, in the midsagittal plane (nasion) and the junction of frontal bone and nasal bone (a point). Preferred (foundation metadata concept)

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