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Diseases » Atrial Septal Defect » Glossary
 

Glossary for Atrial Septal Defect

  • 4p16.3 deletion: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
  • Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Additional Heart Sounds: A heart sound that is heard in addition to the normal two beats.
  • Alagille Syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Atrial septal defect atrioventricular conduction: An inherited heart condition involving a heart malformation (atrial septal defect) and abnormal electrical signals between the atrium and ventricle of the heart (atrioventricular conduction defect).
  • Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss: A rare syndrome characterized mainly by heart defects, hearing impairment and a congenital eye disorder called Axenfeld-Rieger anomaly.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Biaxin -- Teratogenic Agent: There is evidence to indicate that exposure to Biaxin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Budesonide -- Teratogenic Agent: There is strong evidence to indicate that exposure to Budesonide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Carbamazepine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.
  • Chest conditions: Any condition affecting the chest
  • Chondroectodermal dysplasia: A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities.
  • Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
  • Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
  • Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 3/B translocation: A rare chromosomal disorder involving a translocation of genetic material of chromosome 3.
  • Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
  • Circulatory system conditions: Medical conditions affecting the heart and the circulatory system.
  • Clarithromycin -- Teratogenic Agent: There is evidence to indicate that exposure to Clarithromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
  • Collins-Dennis-Clarke-Pope Syndrome: A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects.
  • Collins-Pope syndrome: A very rare syndrome characterized by a dislocated hip, increased finger flexibility and facial anomalies.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Corpus callosum agenesis -- blepharophimosis -- Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Cote-Katsantoni syndrome: A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.
  • Craniofrontonasal syndrome Teebi type: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Crixan -- Teratogenic Agent: There is evidence to indicate that exposure to Crixan (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Del (2) (q13-q21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q34-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q35-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (pter-p25) and dup (2) (pter-p25.3): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Diclofenac -- Teratogenic Agent: There is evidence to indicate that exposure to Diclofenac (an NSAID drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Dup (3) (pter-p21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p22): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p22.1): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1p36.3): A very rare chromosomal disorder where a portion of the short arm (1p36.3) of chromosome one is duplicated.
  • Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Ebstein's anomaly: A congenital heart defect where the tricuspid valve is deformed. The tricuspid valve in the heart normally has three flaps that control blood flow but in Ebstein's anomaly, one of the flaps remains open instead of closing and allows blood to leak through.
  • Ellis-van Creveld syndrome:
  • Exercise intolerance: inability to exercise excessively
  • Heart conditions: Any condition that affects the heart
  • Heart failure: Slow failure of the heart (cardiac insufficiency).
  • Holt-Oram Syndrome: A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
  • Hydrolethalus syndrome: A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
  • Ibuprofen -- Teratogenic Agent: There is evidence to indicate that exposure to Ibuprofen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Infex -- Teratogenic Agent: There is evidence to indicate that exposure to Infex (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Insulin -- Teratogenic Agent: There is evidence to indicate that exposure to Insulin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Irons-Bhan syndrome: A very rare syndrome characterized mainly by lymphoedema in the legs, heart defects and a hydrocele (swollen testicles).
  • Ivemark Syndrome: A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels.
  • Klaricid -- Teratogenic Agent: There is evidence to indicate that exposure to Klaricid (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Koroxenidis Syndrome: A very rare condition observed in one family. The condition is characterized by defect in the major blood vessels of the heart and deafness.
  • Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
  • Lamotrigine -- Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Lewis (F.) syndrome: A rare genetic disorder characterized by heart and upper limb defects.
  • Lovastatin -- Teratogenic Agent: There is evidence to indicate that exposure to Lovastatin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Lymphoedema -- atrial septal defects -- facial changes: A rare inherited syndrome characterized by lymphoedema of the legs at birth, heart defects and facial anomalies.
  • Meclizine -- Teratogenic Agent: There is evidence to indicate that exposure to Meclizine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
  • Methotrexate -- Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Metoclopramide -- Teratogenic Agent: There is evidence to indicate that exposure to Metoclopramide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Mitral regurgitation: A condition which is characterized by a regurgitation of blood from the left ventricle into the atrium due to a problem with the mitral valve
  • Naproxen -- Teratogenic Agent: There is evidence to indicate that exposure to Naproxen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • No symptoms: The absence of noticable symptoms.
  • Oculofaciocardiodental syndrome: A very rare syndrome characterized mainly by eye, face, tooth and heart abnormalities.
  • Okamuto Satomura syndrome: A very rare syndrome characterized mainly by kidney, heart and facial abnormalities as well as reduced muscle tone and mental retardation.
  • Oxycarbamazepine -- Teratogenic Agent: There is evidence to indicate that exposure to Oxycarbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Patent foramen ovale: A normal variant, where the foramen ovale (connection between the two upper chambers of the heart) fails to close after birth.
  • Pfeiffer Syndrome Type II: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial and cardiovascular malformations with death often occurring early.
  • Pfeiffer syndrome Type 2: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial and cardiovascular malformations with death often occurring early.
  • Polysyndactyly -- cardiac malformation: A very rare syndrome characterized mainly by an extra toe, webbed fingers and heart malformations.
  • Porencephaly -- cerebellar hypoplasia -- malformations: A very rare syndrome characterized mainly by abnormal brain development and internal malformations.
  • Proximal spinal muscular atrophy, type 1: A type of spinal muscular atrophy which is a progressive genetic motor neuron disease involving the nerves and muscles. The condition is relatively rare and is characterized by muscle weakness which leads to structural deformities and loss or reduced capability of normal body movements. SMA type I is the most debilitating form as muscular weakness is evident at birth and diagnosis usually occurs within the first three months.
  • Pulmonary hypertension: Pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. emphysema, chronic bronchitis), heart conditions (e.g. congestive heart failure, birth defects involving heart), AIDS or medications such as fenfluramine (a diet drug). Sometimes it occurs for no apparent reason and is called primary pulmonary hypertension.
  • Respiratory symptoms: Symptoms affecting the breathing systems.
  • Reynolds-Neri-Hermann syndrome: A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.
  • Right pulmonary artery, anomalous origin of, familial: A heart anomaly involving various heart blood vessel abnormalities.
  • Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
  • Serpentine fibula -- polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
  • Shortness of breath: The feeling of being short of breath
  • Skeletal and Cardiac Malformations with thrombocytopenia: A rare, newly described syndrome characterized by skeletal and heart abnormalities as well as a blood disorder.
  • Skeleto cardiac syndrome with thrombocytopenia: A rare, newly described syndrome characterized by skeletal and heart abnormalities as well as a blood disorder.
  • Stevenson-Carey syndrome: A rare syndrome involving various congenital abnormalities and mental retardation.
  • Sumatriptan -- Teratogenic Agent: There is evidence to indicate that exposure to Sumatriptan during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tenoxicam -- Teratogenic Agent: There is evidence to indicate that exposure to Tenoxicam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Terbinafine (topical) -- Teratogenic Agent: There is evidence to indicate that exposure to Terbinafine (topical) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Triploid syndrome: A complete extra set of chromosomes.
  • Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Valproic Acid -- Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
  • Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
  • Viscero-atrial heterotaxia: The abnormal position of the atriums of the heart
  • Voltaren -- Teratogenic Agent: There is evidence to indicate that exposure to Voltaren (an NSAID drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability

 

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