HyperDic: congenital_disease

English > 1 sense of the expression congenital disease:
NOUNstatecongenital disease, genetic disease, genetic disorder, genetic abnormality, genetic defect, inherited disease, inherited disorder, hereditary disease, hereditary conditiona disease or disorder that is inherited genetically
English > congenital disease: 1 sense > noun 1, state
MeaningA disease or disorder that is inherited genetically.
Synonymsgenetic disease, genetic disorder, genetic abnormality, genetic defect, inherited disease, inherited disorder, hereditary disease, hereditary condition
NarrowerFanconi's anemia, Fanconi's anaemia, congenital pancytopeniaA rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
Hirschsprung's disease, congenital megacoloncongenital condition in which the colon does not have the normal network of nerves
McArdle's diseaseAn inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle
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
abetalipoproteinemiaA rare inherited disorder of fat metabolism
achondroplasia, achondroplasty, osteosclerosis congenita, chondrodystrophyAn inherited skeletal disorder beginning before birth
autosomal dominant disease, autosomal dominant disorderA disease caused by a dominant mutant gene on an autosome
autosomal recessive disease, autosomal recessive defectA disease caused by the presence of two recessive mutant genes on an autosome
congenital afibrinogenemiaA rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
dwarfism, nanismA genetic abnormality resulting in short stature
hepatolenticular degeneration, Wilson's diseaseA rare inherited disorder of copper metabolism
hyperbetalipoproteinemiaA genetic disorder characterized by high levels of beta-lipoproteins and cholesterol
ichthyosisAny of several congenital diseases in which the skin is dry and scaly like a fish
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
lactose intolerance, lactase deficiency, milk intolerancecongenital disorder consisting of an inability to digest milk and milk products
maple syrup urine disease, branched chain ketoaciduriaAn inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup
monogenic disorder, monogenic diseaseAn inherited disease controlled by a single pair of genes
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
muscular dystrophy, dystrophyAny of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
nevoid elephantiasis, pachydermathickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
oligodactylycongenital condition in which some fingers or toes are missing
oligodontiacongenital condition in which some of the teeth are missing
osteopetrosis, Albers-Schonberg disease, marble bones diseaseAn inherited disorder characterized by an increase / increase / increase in bone density
otosclerosishereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
polygenic disorder, polygenic diseaseAn inherited disease controlled by several genes at once
porphyriaA genetic abnormality of metabolism causing abdominal pains and mental confusion
BroaderdiseaseAn impairment of health or a condition of abnormal functioning
Spanishenfermedad genética
Catalanmalaltia genètica

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