Categorias DeCS
C05 Musculoskeletal Diseases .
C05.116 Bone Diseases .
C05.116.099 Bone Diseases, Developmental .
C05.116.099.370 Dysostoses .
C05.116.099.370.894 Synostosis .
C05.116.099.370.894.115 Antley-Bixler Syndrome Phenotype .
C05.660 Musculoskeletal Abnormalities .
C05.660.906 Synostosis .
C05.660.906.181 Antley-Bixler Syndrome Phenotype .
C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn .
C10.228.140.163.100.687 Phenylketonurias .
C10.228.140.163.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease .
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn .
C10.228.140.163.100.937.374 Citrullinemia .
C10.597 Neurologic Manifestations .
C10.597.606 Neurobehavioral Manifestations .
C10.597.606.643 Intellectual Disability .
C10.597.606.643.455 Mental Retardation, X-Linked .
C10.597.606.643.455.875 Pyruvate Dehydrogenase Complex Deficiency Disease .
C15 Hemic and Lymphatic Diseases .
C15.378 Hematologic Diseases .
C15.378.100 Blood Coagulation Disorders .
C15.378.100.100 Blood Coagulation Disorders, Inherited .
C15.378.100.100.325 Factor XI Deficiency .
C15.378.100.141 Coagulation Protein Disorders .
C15.378.100.141.325 Factor XI Deficiency .
C15.378.463 Hemorrhagic Disorders .
C15.378.463.325 Factor XI Deficiency .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.735 Prolidase Deficiency .
C16.131.621 Musculoskeletal Abnormalities .
C16.131.621.906 Synostosis .
C16.131.621.906.181 Antley-Bixler Syndrome Phenotype .
C16.131.831 Skin Abnormalities .
C16.131.831.720 Prolidase Deficiency .
C16.320 Genetic Diseases, Inborn .
C16.320.099 Blood Coagulation Disorders, Inherited .
C16.320.099.325 Factor XI Deficiency .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.500 Mental Retardation, X-Linked .
C16.320.322.500.875 Pyruvate Dehydrogenase Complex Deficiency Disease .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.525 Mental Retardation, X-Linked .
C16.320.400.525.875 Pyruvate Dehydrogenase Complex Deficiency Disease .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.766 Phenylketonurias .
C16.320.565.100.794 Prolidase Deficiency .
C16.320.565.100.940 Urea Cycle Disorders, Inborn .
C16.320.565.100.940.374 Citrullinemia .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.687 Phenylketonurias .
C16.320.565.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.374 Citrullinemia .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.810 Pyruvate Metabolism, Inborn Errors .
C16.320.565.202.810.766 Pyruvate Dehydrogenase Complex Deficiency Disease .
C16.320.565.925 Steroid Metabolism, Inborn Errors .
C16.320.565.925.324 Antley-Bixler Syndrome Phenotype .
C16.320.850 Skin Diseases, Genetic .
C16.320.850.746 Prolidase Deficiency .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.687 Phenylketonurias .
C18.452.132.100.750 Pyruvate Dehydrogenase Complex Deficiency Disease .
C18.452.132.100.937 Urea Cycle Disorders, Inborn .
C18.452.132.100.937.374 Citrullinemia .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.766 Phenylketonurias .
C18.452.648.100.940 Urea Cycle Disorders, Inborn .
C18.452.648.100.940.374 Citrullinemia .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.687 Phenylketonurias .
C18.452.648.189.750 Pyruvate Dehydrogenase Complex Deficiency Disease .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.374 Citrullinemia .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.810 Pyruvate Metabolism, Inborn Errors .
C18.452.648.202.810.766 Pyruvate Dehydrogenase Complex Deficiency Disease .
C18.452.648.925 Steroid Metabolism, Inborn Errors .
C18.452.648.925.324 Antley-Bixler Syndrome Phenotype .
C18.452.660 Mitochondrial Diseases .
C18.452.660.710 Pyruvate Dehydrogenase Complex Deficiency Disease .
C18.654 Nutrition Disorders .
C18.654.521 Malnutrition .
C18.654.521.500 Deficiency Diseases .
C18.654.521.500.708 Protein Deficiency .
SP6 Nutrition, Public Health .
SP6.016 Nutrition Disorders .
SP6.016.052 Deficiency Diseases .
SP6.016.052.058 Malnutrition .
SP6.016.052.058.089 Protein Deficiency .
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| | Termos Sinônimos e Históricos | Documentos LILACS e MDL | | | | | | | |
| Antley-Bixler Syndrome Phenotype . Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency . Antley-Bixler Syndrome . Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis . Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase . Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency . Cytochrome P450 Oxidoreductase Deficiency . Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency . Multisynostotic Osteodysgenesis . Multisynostotic Osteodysgenesis With Long Bone Fractures . Osteodysgenesis, Multisynostotic, With Fractures . POR Deficiency . Trapezoidocephaly-Synostosis Syndrome . Antley Bixler Syndrome . Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis . Antley Bixler Syndrome Phenotype . Antley Bixler Syndrome with Disordered Steroidogenesis . Antley Bixler Syndrome, Autosomal Dominant . Osteodysgenesis, Multisynostotic . Phenotype, Antley-Bixler Syndrome . Syndrome Phenotype, Antley-Bixler . Syndrome, Antley-Bixler . Syndrome, Trapezoidocephaly-Synostosis . Syndromes, Trapezoidocephaly-Synostosis . Trapezoidocephaly Synostosis Syndrome . Trapezoidocephaly-Synostosis Syndromes . Antley-Bixler Syndrome with Disordered Steroidogenesis . Antley-Bixler Syndrome, Autosomal Dominant . 0.66
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| Phenylketonurias . BH4 Deficiency . DHPR Deficiency . Deficiency Disease, Dihydropteridine Reductase . Deficiency Disease, Phenylalanine Hydroxylase . Deficiency Disease, Phenylalanine Hydroxylase, Severe . Dihydropteridine Reductase Deficiency . Folling Disease . Folling's Disease . HPABH4C . Hyperphenylalaninaemia . Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism . Hyperphenylalaninemia, BH4-Deficient, C . Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency . Non-Phenylketonuric Hyperphenylalaninemia . Oligophrenia Phenylpyruvica . PAH Deficiency . PKU, Atypical . Phenylalanine Hydroxylase Deficiency . Phenylalanine Hydroxylase Deficiency Disease, Severe . Phenylketonuria . Phenylketonuria I . Phenylketonuria II . Phenylketonuria Type 2 . Phenylketonuria, Atypical . Phenylketonuria, Classical . QDPR Deficiency . Quinoid Dihydropteridine Reductase Deficiency . Tetrahydrobiopterin Deficiency . Atypical PKU . Atypical Phenylketonuria . Classical Phenylketonuria . Deficiency, BH4 . Deficiency, DHPR . Deficiency, Dihydropteridine Reductase . Deficiency, PAH . Deficiency, Phenylalanine Hydroxylase . Deficiency, QDPR . Deficiency, Tetrahydrobiopterin . Disease, Folling . Disease, Folling's . Hyperphenylalaninemia, Non Phenylketonuric . Non Phenylketonuric Hyperphenylalaninemia . Non-Phenylketonuric Hyperphenylalaninemias . Dihydropteridine Reductase Deficiency Disease . Hyperphenylalaninemia, Non-Phenylketonuric . Phenylalanine Hydroxylase Deficiency Disease . PHENYLKETONURIA . 0.61
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| Citrullinemia . Argininosuccinic Acid Synthase Deficiency Disease . Argininosuccinic Acid Synthetase Deficiency Disease . Argininosuccinic Acid Synthetase Deficiency Disease, Partial . Argininosuccinic Acid Synthetase Deficiency, Complete . Citrullinemia, Classical . Citrullinemia, Late-Onset . Citrullinemia, Neonatal . Citrullinemia, Type I . Citrullinuria . Complete Argininosuccinic Acid Synthetase Deficiency Disease . Deficiency, Argininosuccinic Acid Synthetase, Complete . Deficiency, Argininosuccinic Acid Synthetase, Partial . Partial Argininosuccinic Acid Synthetase Deficiency Disease . ASS Deficiencies . Argininosuccinate Synthetase Deficiencies . Citrullinemia, Late Onset . Citrullinemias . Citrullinemias, Classic . Citrullinemias, Classical . Citrullinemias, Late-Onset . Citrullinemias, Neonatal . Citrullinurias . Classic Citrullinemia . Classic Citrullinemias . Classical Citrullinemia . Classical Citrullinemias . Deficiencies, ASS . Deficiencies, Argininosuccinate Synthetase . Deficiency, ASS . Deficiency, Argininosuccinate Synthetase . Late-Onset Citrullinemia . Late-Onset Citrullinemias . Neonatal Citrullinemia . Neonatal Citrullinemias . Type 1, Citrullinemia . Argininosuccinate Synthase Deficiency Disease . Argininosuccinate Synthetase Deficiency . Argininosuccinic Acid Synthetase Deficiency . ASS Deficiency . Citrullinemia 1 . Citrullinemia Type 1 . Citrullinemia, Classic . Deficiency Disease, Argininosuccinate Synthase . Deficiency Disease, Argininosuccinic Acid Synthase . 0.60
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| Pyruvate Dehydrogenase Complex Deficiency Disease . Ataxia with Lactic Acidosis . Ataxia with Lactic Acidosis I . Ataxia, Intermittent, with Abnormal Pyruvate Metabolism . Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency . Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency . Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease . Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease . PDH Deficiency . PDHC Deficiency . PDHC Deficiency Disease . Pyruvate Decarboxylase Deficiency . Pyruvate Dehydrogenase Complex Deficiency . Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile . Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal . Pyruvate Dehydrogenase Deficiency . Type I Ataxia with Lactic Acidosis . Deficiency, PDH . Deficiency, PDHC . Deficiency, Pyruvate Decarboxylase . Deficiency, Pyruvate Dehydrogenase . Ataxia with Lactic Acidosis, Type I . Lactic Acidosis with Ataxia, Type I . PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY . 0.60
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