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congenital disease

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1. a disease or disorder that is inherited genetically (noun.state)
:disease,
definition:an impairment of health or a condition of abnormal functioning (noun.state)
:monogenic disease, monogenic disorder,
definition:an inherited disease controlled by a single pair of genes (noun.state)
:polygenic disease, polygenic disorder,
definition:an inherited disease controlled by several genes at once (noun.state)
:achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita,
definition:an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism (noun.state)
:abetalipoproteinemia,
definition:a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels (noun.state)
:inborn error of metabolism,
definition:any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism (noun.state)
:congenital megacolon, hirschsprung's disease,
definition:congenital 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 (noun.state)
:mucopolysaccharidosis,
definition:any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues (noun.state)
:hyperbetalipoproteinemia,
definition:a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age (noun.state)
:ichthyosis,
definition:any of several congenital diseases in which the skin is dry and scaly like a fish (noun.state)
:branched chain ketoaciduria, maple syrup urine disease,
definition:an 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 (noun.state)
:mcardle's disease,
definition:an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping (noun.state)
:dystrophy, muscular dystrophy,
definition:any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles (noun.state)
:oligodactyly,
definition:congenital condition in which some fingers or toes are missing (noun.state)
:oligodontia,
definition:congenital condition in which some of the teeth are missing (noun.state)
:otosclerosis,
definition:hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness (noun.state)
:autosomal dominant disease, autosomal dominant disorder,
definition:a disease caused by a dominant mutant gene on an autosome (noun.state)
:autosomal recessive defect, autosomal recessive disease,
definition:a disease caused by the presence of two recessive mutant genes on an autosome (noun.state)
:congenital pancytopenia, fanconi's anaemia, fanconi's anemia,
definition:a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow (noun.state)
:juvenile amaurotic idiocy, spielmeyer-vogt disease,
definition:a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death (noun.state)
:congenital afibrinogenemia,
definition:a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma (noun.state)
:albers-schonberg disease, marble bones disease, osteopetrosis,
definition:an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated (noun.state)
:nevoid elephantiasis, pachyderma,
definition:thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction (noun.state)
:dwarfism, nanism,
definition:a genetic abnormality resulting in short stature (noun.state)
:lactase deficiency, lactose intolerance, milk intolerance,
definition:congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose (noun.state)
:porphyria,
definition:a genetic abnormality of metabolism causing abdominal pains and mental confusion (noun.state)
:hepatolenticular degeneration, wilson's disease,
definition:a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain (noun.state)

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