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

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 51 coordinate concepts 16 subordinate concepts ∟ Amino Acid Metabolism, Inborn Errors \| ∟ 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 ∟ Acid-Base Imbalance \| ∟ Amyloidosis \| ∟ Brain Diseases, Metabolic \| ∟ Calcium Metabolism Disorders \| ∟ D008659Q000151* \| ∟ DNA Repair-Deficiency Disorders \| ∟ Glucose Metabolism Disorders \| ∟ Iron Metabolism Disorders \| ∟ Lipid Metabolism Disorders \| ∟ Malabsorption Syndromes \| ∟ Metabolic Syndrome X \| ∟ Mitochondrial Diseases \| ∟ Phosphorus Metabolism Disorders \| ∟ Porphyrias \| ∟ Skin Diseases, Metabolic \| ∟ Wasting Syndrome \| ∟ Water-Electrolyte Imbalance \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Chromosome Disorders \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Hyperthyroxinemia, Familial Dysalbuminemic \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Muscular Dystrophies \| ∟ Myasthenic Syndromes, Congenital \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors 51 coordinate concepts 16 subordinate concepts ∟ Amino Acid Metabolism, Inborn Errors \| ∟ 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 ∟ Acid-Base Imbalance \| ∟ Amyloidosis \| ∟ Brain Diseases, Metabolic \| ∟ Calcium Metabolism Disorders \| ∟ D008659Q000151* \| ∟ DNA Repair-Deficiency Disorders \| ∟ Glucose Metabolism Disorders \| ∟ Iron Metabolism Disorders \| ∟ Lipid Metabolism Disorders \| ∟ Malabsorption Syndromes \| ∟ Metabolic Syndrome X \| ∟ Mitochondrial Diseases \| ∟ Phosphorus Metabolism Disorders \| ∟ Porphyrias \| ∟ Skin Diseases, Metabolic \| ∟ Wasting Syndrome \| ∟ Water-Electrolyte Imbalance \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Chromosome Disorders \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Hyperthyroxinemia, Familial Dysalbuminemic \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Muscular Dystrophies \| ∟ Myasthenic Syndromes, Congenital \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Narrower terms:	Amino Acid Metabolism, Inborn Errors \| 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
Annotation:	GEN: prefer specific types; differentiate from DEFICIENCY DISEASES; DF: METAB INBORN ERR X
historyNote*:	65 X
publicMeSHNote*:	65 X
Scope note:	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateEstablished*:	1965-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Acid-Base Imbalance \| Amyloidosis \| Brain Diseases, Metabolic \| Calcium Metabolism Disorders \| D008659Q000151* \| DNA Repair-Deficiency Disorders \| Glucose Metabolism Disorders \| Iron Metabolism Disorders \| Lipid Metabolism Disorders \| Malabsorption Syndromes \| Metabolic Syndrome X \| Mitochondrial Diseases \| Phosphorus Metabolism Disorders \| Porphyrias \| Skin Diseases, Metabolic \| Wasting Syndrome \| Water-Electrolyte Imbalance \| Adrenal Hyperplasia, Congenital \| Anemia, Hemolytic, Congenital \| Anemia, Hypoplastic, Congenital \| Ataxia Telangiectasia \| Blood Coagulation Disorders, Inherited \| Brugada Syndrome \| CADASIL \| Camurati-Engelmann Syndrome \| Cardiomyopathy, Hypertrophic, Familial \| Cherubism \| Chromosome Disorders \| Cystic Fibrosis \| Dwarfism \| Eye Diseases, Hereditary \| Familial Mediterranean Fever \| Genetic Diseases, X-Linked \| Genetic Diseases, Y-Linked \| Hajdu-Cheney Syndrome \| Hemoglobinopathies \| Heredodegenerative Disorders, Nervous System \| Hyperthyroxinemia, Familial Dysalbuminemic \| Jervell-Lange Nielsen Syndrome \| Kallmann Syndrome \| Kartagener Syndrome \| Marfan Syndrome \| Muscular Dystrophies \| Myasthenic Syndromes, Congenital \| Nail-Patella Syndrome \| Neoplastic Syndromes, Hereditary \| Osteogenesis Imperfecta \| Pain Insensitivity, Congenital \| Romano-Ward Syndrome \| Skin Diseases, Genetic \| Werner Syndrome X
URI:	X
Labels and equivalent concepts:	Synnynnäiset aineenvaihduntahäiriöt (fi) Synnynnäiset metaboliset häiriöt (fi, replaced) Synnynnäinen metabolinen häiriö (fi, replaced) Synnynnäinen aineenvaihduntahäiriö (fi, replaced) Ämnesomsättningsrubbningar, medfödda (sv) Metabola rubbningar, medfödda (sv, replaced) Metabolism Errors, Inborn (en, replaced) Inborn Errors of Metabolism (en, replaced) X
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