DISEASES Nervous System Diseases [C10] Nervous System Diseases Central Nervous System Diseases [C10.228] Central Nervous System Diseases Brain Diseases [C10.228.140] Brain Diseases Brain Diseases, Metabolic [C10.228.140.163] Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn [C10.228.140.163.100] Brain Diseases, Metabolic, Inborn Adrenoleukodystrophy [C10.228.140.163.100.084] Adrenoleukodystrophy Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168] Cerebral Amyloid Angiopathy, Familial Galactosemias [C10.228.140.163.100.320] Galactosemias Hartnup Disease [C10.228.140.163.100.355] Hartnup Disease Hepatolenticular Degeneration [C10.228.140.163.100.360] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362] Hereditary Central Nervous System Demyelinating Diseases Homocystinuria [C10.228.140.163.100.365] Homocystinuria Hyperglycinemia, Nonketotic [C10.228.140.163.100.375] Hyperglycinemia, Nonketotic Hyperlysinemias [C10.228.140.163.100.380] Hyperlysinemias Leigh Disease [C10.228.140.163.100.412] Leigh Disease Lesch-Nyhan Syndrome [C10.228.140.163.100.425] Lesch-Nyhan Syndrome Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] Lysosomal Storage Diseases, Nervous System Maple Syrup Urine Disease [C10.228.140.163.100.520] Maple Syrup Urine Disease MELAS Syndrome [C10.228.140.163.100.535] MELAS Syndrome Menkes Kinky Hair Syndrome [C10.228.140.163.100.540] Menkes Kinky Hair Syndrome MERRF Syndrome [C10.228.140.163.100.545] MERRF Syndrome Mevalonate Kinase Deficiency [C10.228.140.163.100.593] Mevalonate Kinase Deficiency Oculocerebrorenal Syndrome [C10.228.140.163.100.640] Oculocerebrorenal Syndrome Phenylketonurias [C10.228.140.163.100.687] Phenylketonurias Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750] Pyruvate Dehydrogenase Complex Deficiency Disease Refsum Disease [C10.228.140.163.100.813] Refsum Disease Refsum Disease, Infantile [C10.228.140.163.100.844] Refsum Disease, Infantile Tyrosinemias [C10.228.140.163.100.875] Tyrosinemias Urea Cycle Disorders, Inborn [C10.228.140.163.100.937] Urea Cycle Disorders, Inborn Zellweger Syndrome [C10.228.140.163.100.968] Zellweger Syndrome Hepatic Encephalopathy [C10.228.140.163.360] Hepatic Encephalopathy Kernicterus [C10.228.140.163.480] Kernicterus Marchiafava-Bignami Disease [C10.228.140.163.510] Marchiafava-Bignami Disease Mitochondrial Encephalomyopathies [C10.228.140.163.540] Mitochondrial Encephalomyopathies Myelinolysis, Central Pontine [C10.228.140.163.560] Myelinolysis, Central Pontine Reye Syndrome [C10.228.140.163.780] Reye Syndrome Wernicke Encephalopathy [C10.228.140.163.960] Wernicke Encephalopathy DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Metabolism, Inborn Errors [C16.320.565] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C16.320.565.100] Amino Acid Metabolism, Inborn Errors Amino Acid Transport Disorders, Inborn [C16.320.565.151] Amino Acid Transport Disorders, Inborn Amyloidosis, Familial [C16.320.565.176] Amyloidosis, Familial Brain Diseases, Metabolic, Inborn [C16.320.565.189] Brain Diseases, Metabolic, Inborn Adrenoleukodystrophy [C16.320.565.189.084] Adrenoleukodystrophy Cerebral Amyloid Angiopathy, Familial [C16.320.565.189.168] Cerebral Amyloid Angiopathy, Familial Galactosemias [C16.320.565.189.320] Galactosemias Hartnup Disease [C16.320.565.189.355] Hartnup Disease Hepatolenticular Degeneration [C16.320.565.189.360] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362] Hereditary Central Nervous System Demyelinating Diseases Homocystinuria [C16.320.565.189.365] Homocystinuria Hyperglycinemia, Nonketotic [C16.320.565.189.375] Hyperglycinemia, Nonketotic Hyperlysinemias [C16.320.565.189.380] Hyperlysinemias Leigh Disease [C16.320.565.189.412] Leigh Disease Lesch-Nyhan Syndrome [C16.320.565.189.425] Lesch-Nyhan Syndrome Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435] Lysosomal Storage Diseases, Nervous System Maple Syrup Urine Disease [C16.320.565.189.520] Maple Syrup Urine Disease MELAS Syndrome [C16.320.565.189.535] MELAS Syndrome Menkes Kinky Hair Syndrome [C16.320.565.189.540] Menkes Kinky Hair Syndrome MERRF Syndrome [C16.320.565.189.545] MERRF Syndrome Mevalonate Kinase Deficiency [C16.320.565.189.593] Mevalonate Kinase Deficiency Oculocerebrorenal Syndrome [C16.320.565.189.640] Oculocerebrorenal Syndrome Phenylketonurias [C16.320.565.189.687] Phenylketonurias Pyruvate Carboxylase Deficiency Disease [C16.320.565.189.725] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.189.750] Pyruvate Dehydrogenase Complex Deficiency Disease Refsum Disease [C16.320.565.189.813] Refsum Disease Refsum Disease, Infantile [C16.320.565.189.844] Refsum Disease, Infantile Tyrosinemias [C16.320.565.189.875] Tyrosinemias Urea Cycle Disorders, Inborn [C16.320.565.189.937] Urea Cycle Disorders, Inborn Zellweger Syndrome [C16.320.565.189.968] Zellweger Syndrome Carbohydrate Metabolism, Inborn Errors [C16.320.565.202] Carbohydrate Metabolism, Inborn Errors Cytochrome-c Oxidase Deficiency [C16.320.565.240] Cytochrome-c Oxidase Deficiency Hyperbilirubinemia, Hereditary [C16.320.565.300] Hyperbilirubinemia, Hereditary Lipid Metabolism, Inborn Errors [C16.320.565.398] Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases [C16.320.565.595] Lysosomal Storage Diseases Metal Metabolism, Inborn Errors [C16.320.565.618] Metal Metabolism, Inborn Errors Peroxisomal Disorders [C16.320.565.663] Peroxisomal Disorders Progeria [C16.320.565.753] Progeria Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798] Purine-Pyrimidine Metabolism, Inborn Errors Renal Tubular Transport, Inborn Errors [C16.320.565.893] Renal Tubular Transport, Inborn Errors Steroid Metabolism, Inborn Errors [C16.320.565.925] Steroid Metabolism, Inborn Errors DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Brain Diseases, Metabolic [C18.452.132] Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn [C18.452.132.100] Brain Diseases, Metabolic, Inborn Adrenoleukodystrophy [C18.452.132.100.084] Adrenoleukodystrophy Cerebral Amyloid Angiopathy, Familial [C18.452.132.100.168] Cerebral Amyloid Angiopathy, Familial Galactosemias [C18.452.132.100.320] Galactosemias Hartnup Disease [C18.452.132.100.355] Hartnup Disease Hepatolenticular Degeneration [C18.452.132.100.360] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362] Hereditary Central Nervous System Demyelinating Diseases Homocystinuria [C18.452.132.100.365] Homocystinuria Hyperglycinemia, Nonketotic [C18.452.132.100.375] Hyperglycinemia, Nonketotic Hyperlysinemias [C18.452.132.100.380] Hyperlysinemias Leigh Disease [C18.452.132.100.412] Leigh Disease Lesch-Nyhan Syndrome [C18.452.132.100.425] Lesch-Nyhan Syndrome Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435] Lysosomal Storage Diseases, Nervous System Maple Syrup Urine Disease [C18.452.132.100.520] Maple Syrup Urine Disease MELAS Syndrome [C18.452.132.100.535] MELAS Syndrome Menkes Kinky Hair Syndrome [C18.452.132.100.540] Menkes Kinky Hair Syndrome MERRF Syndrome [C18.452.132.100.545] MERRF Syndrome Mevalonate Kinase Deficiency [C18.452.132.100.593] Mevalonate Kinase Deficiency Oculocerebrorenal Syndrome [C18.452.132.100.640] Oculocerebrorenal Syndrome Phenylketonurias [C18.452.132.100.687] Phenylketonurias Pyruvate Carboxylase Deficiency Disease [C18.452.132.100.725] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.132.100.750] Pyruvate Dehydrogenase Complex Deficiency Disease Refsum Disease [C18.452.132.100.813] Refsum Disease Refsum Disease, Infantile [C18.452.132.100.844] Refsum Disease, Infantile Tyrosinemias [C18.452.132.100.875] Tyrosinemias Urea Cycle Disorders, Inborn [C18.452.132.100.937] Urea Cycle Disorders, Inborn Zellweger Syndrome [C18.452.132.100.968] Zellweger Syndrome Hepatic Encephalopathy [C18.452.132.360] Hepatic Encephalopathy Kernicterus [C18.452.132.480] Kernicterus Mitochondrial Encephalomyopathies [C18.452.132.540] Mitochondrial Encephalomyopathies Myelinolysis, Central Pontine [C18.452.132.560] Myelinolysis, Central Pontine Reye Syndrome [C18.452.132.780] Reye Syndrome Wernicke Encephalopathy [C18.452.132.960] Wernicke Encephalopathy DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Metabolism, Inborn Errors [C18.452.648] Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors [C18.452.648.100] Amino Acid Metabolism, Inborn Errors Amino Acid Transport Disorders, Inborn [C18.452.648.151] Amino Acid Transport Disorders, Inborn Amyloidosis, Familial [C18.452.648.176] Amyloidosis, Familial Brain Diseases, Metabolic, Inborn [C18.452.648.189] Brain Diseases, Metabolic, Inborn Adrenoleukodystrophy [C18.452.648.189.084] Adrenoleukodystrophy Cerebral Amyloid Angiopathy, Familial [C18.452.648.189.168] Cerebral Amyloid Angiopathy, Familial Galactosemias [C18.452.648.189.320] Galactosemias Hartnup Disease [C18.452.648.189.355] Hartnup Disease Hepatolenticular Degeneration [C18.452.648.189.360] Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362] Hereditary Central Nervous System Demyelinating Diseases Homocystinuria [C18.452.648.189.365] Homocystinuria Hyperglycinemia, Nonketotic [C18.452.648.189.375] Hyperglycinemia, Nonketotic Hyperlysinemias [C18.452.648.189.380] Hyperlysinemias Leigh Disease [C18.452.648.189.412] Leigh Disease Lesch-Nyhan Syndrome [C18.452.648.189.425] Lesch-Nyhan Syndrome Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435] Lysosomal Storage Diseases, Nervous System Maple Syrup Urine Disease [C18.452.648.189.520] Maple Syrup Urine Disease MELAS Syndrome [C18.452.648.189.535] MELAS Syndrome Menkes Kinky Hair Syndrome [C18.452.648.189.540] Menkes Kinky Hair Syndrome MERRF Syndrome [C18.452.648.189.545] MERRF Syndrome Mevalonate Kinase Deficiency [C18.452.648.189.593] Mevalonate Kinase Deficiency Oculocerebrorenal Syndrome [C18.452.648.189.640] Oculocerebrorenal Syndrome Phenylketonurias [C18.452.648.189.687] Phenylketonurias Pyruvate Carboxylase Deficiency Disease [C18.452.648.189.725] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.648.189.750] Pyruvate Dehydrogenase Complex Deficiency Disease Refsum Disease [C18.452.648.189.813] Refsum Disease Refsum Disease, Infantile [C18.452.648.189.844] Refsum Disease, Infantile Tyrosinemias [C18.452.648.189.875] Tyrosinemias Urea Cycle Disorders, Inborn [C18.452.648.189.937] Urea Cycle Disorders, Inborn Zellweger Syndrome [C18.452.648.189.968] Zellweger Syndrome Carbohydrate Metabolism, Inborn Errors [C18.452.648.202] Carbohydrate Metabolism, Inborn Errors Hyperbilirubinemia, Hereditary [C18.452.648.300] Hyperbilirubinemia, Hereditary Lipid Metabolism, Inborn Errors [C18.452.648.398] Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases [C18.452.648.595] Lysosomal Storage Diseases Metal Metabolism, Inborn Errors [C18.452.648.618] Metal Metabolism, Inborn Errors Peroxisomal Disorders [C18.452.648.663] Peroxisomal Disorders Progeria [C18.452.648.753] Progeria Purine-Pyrimidine Metabolism, Inborn Errors [C18.452.648.798] Purine-Pyrimidine Metabolism, Inborn Errors Renal Tubular Transport, Inborn Errors [C18.452.648.893] Renal Tubular Transport, Inborn Errors Steroid Metabolism, Inborn Errors [C18.452.648.925] Steroid Metabolism, Inborn Errors

Brain Diseases, Metabolic, Inborn - Conceito preferido

Identificador do conceito	M0328165
Nota de escopo	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Termo preferido	Brain Diseases, Metabolic, Inborn
Termo(s) alternativo(s)	Brain Syndrome, Metabolic, Inborn Encephalopathies, Metabolic, Inborn Inborn Errors of Metabolism, Brain Inborn Metabolic Brain Diseases Inborn Metabolic Brain Disorders Inborn Metabolic Disorders, Brain Metabolic Brain Diseases, Inborn Metabolic Brain Syndrome, Inborn Metabolic Diseases, Inborn, Brain

Central Nervous System Inborn Metabolic Diseases - Mais amplo

Identificador do conceito	M0335525
Termo preferido	Central Nervous System Inborn Metabolic Diseases
Termo(s) alternativo(s)	CNS Metabolic Disorders, Inborn Central Nervous System Inborn Metabolic Disorders Metabolic Diseases, Inborn, Central Nervous System Metabolic Disorders, CNS, Inborn

Brain Diseases, Metabolic, Inherited - Mais específico

Identificador do conceito	M0335526
Termo preferido	Brain Diseases, Metabolic, Inherited
Termo(s) alternativo(s)	Brain Diseases, Metabolic, Familial Familial Metabolic Brain Diseases Familial Metabolic Disorders, Brain Inherited Metabolic Brain Diseases Inherited Metabolic Disorders, Brain Metabolic Brain Diseases, Familial Metabolic Brain Diseases, Inherited Metabolic Disorders, Brain, Inherited Metabolic Disorders, Familial, Brain