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 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 Adrenal Hyperplasia, Congenital [C16.320.565.925.249] Adrenal Hyperplasia, Congenital Antley-Bixler Syndrome Phenotype [C16.320.565.925.324] Antley-Bixler Syndrome Phenotype Ichthyosis, X-Linked [C16.320.565.925.400] Ichthyosis, X-Linked Mineralocorticoid Excess Syndrome, Apparent [C16.320.565.925.500] Mineralocorticoid Excess Syndrome, Apparent Smith-Lemli-Opitz Syndrome [C16.320.565.925.875] Smith-Lemli-Opitz Syndrome 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 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 Adrenal Hyperplasia, Congenital [C18.452.648.925.249] Adrenal Hyperplasia, Congenital Antley-Bixler Syndrome Phenotype [C18.452.648.925.324] Antley-Bixler Syndrome Phenotype Ichthyosis, X-Linked [C18.452.648.925.400] Ichthyosis, X-Linked Mineralocorticoid Excess Syndrome, Apparent [C18.452.648.925.500] Mineralocorticoid Excess Syndrome, Apparent Smith-Lemli-Opitz Syndrome [C18.452.648.925.875] Smith-Lemli-Opitz Syndrome

Steroid Metabolism, Inborn Errors - Conceito preferido

Identificador do conceito	M0442596
Nota de escopo	Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
Termo preferido	Steroid Metabolism, Inborn Errors
Termo(s) alternativo(s)	Congenital Errors of Steroid Metabolism Inborn Errors of Steroid Metabolism Steroid Metabolic Diseases, Inborn