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 .
C05.651 Muscular Diseases .
C05.651.534 Muscular Disorders, Atrophic .
C05.651.534.500 Muscular Dystrophies .
C05.651.534.500.149 Glycogen Storage Disease Type VII .
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 .
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn .
C10.228.140.163.100.937.374 Citrullinemia .
C10.668 Neuromuscular Diseases .
C10.668.491 Muscular Diseases .
C10.668.491.175 Muscular Disorders, Atrophic .
C10.668.491.175.500 Muscular Dystrophies .
C10.668.491.175.500.112 Glycogen Storage Disease Type VII .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.621 Musculoskeletal Abnormalities .
C16.131.621.906 Synostosis .
C16.131.621.906.181 Antley-Bixler Syndrome Phenotype .
C16.320 Genetic Diseases, Inborn .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.766 Phenylketonurias .
C16.320.565.100.940 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 .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.374 Citrullinemia .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.449 Glycogen Storage Disease .
C16.320.565.202.449.600 Glycogen Storage Disease Type VII .
C16.320.565.925 Steroid Metabolism, Inborn Errors .
C16.320.565.925.324 Antley-Bixler Syndrome Phenotype .
C16.320.577 Muscular Dystrophies .
C16.320.577.149 Glycogen Storage Disease Type VII .
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 .
C18.452.132.100.937 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 .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.374 Citrullinemia .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.449 Glycogen Storage Disease .
C18.452.648.202.449.600 Glycogen Storage Disease Type VII .
C18.452.648.925 Steroid Metabolism, Inborn Errors .
C18.452.648.925.324 Antley-Bixler Syndrome Phenotype .
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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Sinônimos e Históricos | Documentos
LILACS e MDL | | | | | | | | | | | |
| 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 .
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| 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 .
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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 .
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