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 DeCS Categories

C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.618 Metal Metabolism, Inborn Errors .
C16.320.565.925 Steroid Metabolism, Inborn Errors .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.618 Metal Metabolism, Inborn Errors .
C18.452.648.925 Steroid Metabolism, Inborn Errors .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Metabolic Diseases .
Diseases, Metabolic .
Disease, Metabolic .
Metabolic Disease .
Thesaurismoses .
Thesaurismosis .
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) .
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3979686
 
Metabolism, Inborn Errors .
Metabolism Errors, Inborn .
Error, Inborn Metabolism .
Errors Metabolism, Inborn .
Errors Metabolisms, Inborn .
Errors, Inborn Metabolism .
Inborn Errors Metabolism .
Inborn Errors Metabolisms .
Inborn Metabolism Error .
Inborn Metabolism Errors .
Metabolism Error, Inborn .
Metabolism Inborn Error .
Metabolism Inborn Errors .
Metabolisms, Inborn Errors .
Inborn Errors of Metabolism .
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. .
0.40
1639709
 
Steroid Metabolism, Inborn Errors .
Congenital Errors of Steroid Metabolism .
Inborn Errors of Steroid Metabolism .
Steroid Metabolic Diseases, Inborn .
Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. .
0.39
1100
 
Metal Metabolism, Inborn Errors .
Metal Metabolism, Inborn Error .
Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero. .
0.39
2276
 
Amino Acid Metabolism, Inborn Errors .
Amino Acid Metabolism Disorders, Inborn .
Amino Acid Metabolism, Inborn Error .
Amino Acid Metabolism, Inherited Disorders .
Amino Acidopathies, Inborn .
Congenital Amino Acidopathies .
Inborn Errors, Amino Acid Metabolism .
Inherited Errors of Amino Acid Metabolism .
Amino Acidopathy, Congenital .
Amino Acidopathy, Inborn .
Congenital Amino Acidopathy .
Inborn Amino Acidopathies .
Inborn Amino Acidopathy .
Amino Acidopathies, Congenital .
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. .
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425269