ONKI3 | Medical Subject Headings

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The way property values are displayed: value/row values side by side

The way concept relations are shown: separately in hierarchy

Amino Acid Metabolism, Inborn Errors

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors 15 coordinate concepts 14 subordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Brain Diseases, Metabolic, Inborn \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Progeria \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors 15 coordinate concepts 14 subordinate concepts ∟ Albinism \| ∟ Alkaptonuria \| ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease \| ∟ Citrullinemia \| ∟ Homocystinuria \| ∟ Hyperargininemia \| ∟ Hyperglycinemia, Nonketotic \| ∟ Hyperhomocysteinemia \| ∟ Hyperlysinemias \| ∟ Maple Syrup Urine Disease \| ∟ Multiple Carboxylase Deficiency \| ∟ Ornithine Carbamoyltransferase Deficiency Disease \| ∟ Phenylketonurias \| ∟ Tyrosinemias ∟ Amino Acid Transport Disorders, Inborn \| ∟ Amyloidosis, Familial \| ∟ Brain Diseases, Metabolic, Inborn \| ∟ Carbohydrate Metabolism, Inborn Errors \| ∟ Cytochrome-c Oxidase Deficiency \| ∟ Hyperbilirubinemia, Hereditary \| ∟ Lipid Metabolism, Inborn Errors \| ∟ Lysosomal Storage Diseases \| ∟ Metal Metabolism, Inborn Errors \| ∟ Peroxisomal Disorders \| ∟ Porphyrias \| ∟ Progeria \| ∟ Purine-Pyrimidine Metabolism, Inborn Errors \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Steroid Metabolism, Inborn Errors X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Narrower terms:	Albinism \| Alkaptonuria \| Carbamoyl-Phosphate Synthase I Deficiency Disease \| Citrullinemia \| Homocystinuria \| Hyperargininemia \| Hyperglycinemia, Nonketotic \| Hyperhomocysteinemia \| Hyperlysinemias \| Maple Syrup Urine Disease \| Multiple Carboxylase Deficiency \| Ornithine Carbamoyltransferase Deficiency Disease \| Phenylketonurias \| Tyrosinemias X
Annotation:	coord IM with specific amino acid /metab (IM); DF: AA METAB INBORN ERR X
historyNote*:	1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964 X
publicMeSHNote*:	1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964 X
Scope note:	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. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Amino Acid Transport Disorders, Inborn \| Amyloidosis, Familial \| Brain Diseases, Metabolic, Inborn \| Carbohydrate Metabolism, Inborn Errors \| Cytochrome-c Oxidase Deficiency \| Hyperbilirubinemia, Hereditary \| Lipid Metabolism, Inborn Errors \| Lysosomal Storage Diseases \| Metal Metabolism, Inborn Errors \| Peroxisomal Disorders \| Porphyrias \| Progeria \| Purine-Pyrimidine Metabolism, Inborn Errors \| Renal Tubular Transport, Inborn Errors \| Steroid Metabolism, Inborn Errors X
URI:	X
Labels and equivalent concepts:	Aminohappojen synnynnäiset aineenvaihduntahäiriöt (fi) Aminohappojen synnynnäiset metaboliset häiriöt (fi, replaced) Synnynnäiset aminohappojen aineenvaihduntahäiriöt (fi, replaced) Synnynnäiset aminohappojen metaboliset häiriöt (fi, replaced) Aminosyror, medfödda ämnesomsättningsrubbningar (sv) Inherited Errors of Amino Acid Metabolism (en, replaced) Inborn Errors, Amino Acid Metabolism (en, replaced) Congenital Amino Acidopathies (en, replaced) Amino Acid Metabolism, Inborn Error (en, replaced) Amino Acidopathies, Congenital (en, replaced) Amino Acidopathies, Inborn (en, replaced) Amino Acid Metabolism Disorders, Inborn (en, replaced) X
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