单词 | congenital disease |
释义 | congenital disease (once / 622069 pages) n WORD FAMILY congenital disease: congenital diseases USAGE EXAMPLESWho could argue with editing out congenital diseases? The New Yorker(Oct 31, 2016) The health complaints described in Kennicott's letters are consistent with long QT syndrome, a congenital disease characterized by rapid, chaotic heart beats and fainting spells. Washington Post(Aug 03, 2016) “The research has to do with infertility, artificial reproduction techniques and hereditary or congenital diseases,” the statement added. The Guardian(May 27, 2016) n a disease or disorder that is inherited genetically Syn|Hypo|Hyper genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder monogenic disease, monogenic disorder an inherited disease controlled by a single pair of genes polygenic disease, polygenic disorderan inherited disease controlled by several genes at once achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenitaan inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism abetalipoproteinemiaa rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels inborn error of metabolismany of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism Hirschsprung's disease, congenital megacoloncongenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon mucopolysaccharidosisany of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues hyperbetalipoproteinemiaa genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age ichthyosisany of several congenital diseases in which the skin is dry and scaly like a fish branched chain ketoaciduria, maple syrup urine diseasean inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood McArdle's diseasean inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping dystrophy, muscular dystrophyany of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles oligodactylycongenital condition in which some fingers or toes are missing oligodontiacongenital condition in which some of the teeth are missing otosclerosishereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness autosomal dominant disease, autosomal dominant disordera disease caused by a dominant mutant gene on an autosome autosomal recessive defect, autosomal recessive diseasea disease caused by the presence of two recessive mutant genes on an autosome Fanconi's anaemia, Fanconi's anemia, congenital pancytopeniaa rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow Spielmeyer-Vogt disease, juvenile amaurotic idiocya congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death congenital afibrinogenemiaa rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma Albers-Schonberg disease, marble bones disease, osteopetrosisan inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated nevoid elephantiasis, pachydermathickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction dwarfism, nanisma genetic abnormality resulting in short stature lactase deficiency, lactose intolerance, milk intolerancecongenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose porphyriaa genetic abnormality of metabolism causing abdominal pains and mental confusion Wilson's disease, hepatolenticular degenerationa rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain diabetesa polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst SCID, severe combined immunodeficiency, severe combined immunodeficiency diseasea congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life CF, cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosisthe most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known galactosemiaa genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth Gaucher's diseasea rare chronic disorder of lipid metabolism of genetic origin Huntington's chorea, Huntington's diseasehereditary disease; develops in adulthood and ends in dementia Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism, lipochondrodystrophyhereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation malignant hyperthermiahereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity Marfan's syndromean autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system neurofibromatosis, von Recklinghausen's diseaseautosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities osteogenesis imperfectaautosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily Becker muscular dystrophya form of muscular dystrophy that sets in in adolescence or adulthood and progresses slowly but will affect all voluntary muscles; characterized by generalized weakness and muscle wasting that affects limb and trunk muscles first; similar to Duchenne's muscular dystrophy but less severe; inheritance is X-linked recessive (carried by females but affecting only males) distal muscular dystrophya form of muscular dystrophy that sets in between 40 and 60 years of age and is characterized by weakness and wasting of the muscles of the hands and forearms and lower legs; inheritance is autosomal dominant Duchenne's muscular dystrophy, pseudohypertrophic dystrophythe most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males) limb-girdle muscular dystrophyan autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages lysinemiaan inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation Steinert's disease, myotonia atrophica, myotonic dystrophy, myotonic muscular dystrophya severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant oculopharyngeal muscular dystrophya form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant Niemann-Pick diseasea disorder of lipid metabolism that is inherited as an autosomal recessive trait crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell diseasea congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape Sachs disease, Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocya hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood thrombastheniaa rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results tyrosinemiaautosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation Werdnig-Hoffman diseaseautosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemiaan inherited form of anemia caused by faulty synthesis of hemoglobin familial hypercholesterolemiacongenital disorder characterized by high levels of cholesterol and early development of atherosclerosis pycnodysostosisa form of dwarfism accompanied by fragile bones and bad teeth PKU, phenylketonuriaa genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency xeroderma, xerodermiaa mild form of ichthyosis characterized by abnormal dryness and roughness of the skin disease an impairment of health or a condition of abnormal functioning |
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