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 Categorias DeCS

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 .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.131 Congenital Abnormalities .
C16.131.077 Abnormalities, Multiple .
C16.131.077.860 Smith-Lemli-Opitz Syndrome .
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 .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.687 Phenylketonurias .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.850 Smith-Lemli-Opitz Syndrome .
C16.320.565.925 Steroid Metabolism, Inborn Errors .
C16.320.565.925.875 Smith-Lemli-Opitz Syndrome .
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 .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.500 Dyslipidemias .
C18.452.584.500.937 Smith-Lemli-Opitz Syndrome .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.766 Phenylketonurias .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.687 Phenylketonurias .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.850 Smith-Lemli-Opitz Syndrome .
C18.452.648.925 Steroid Metabolism, Inborn Errors .
C18.452.648.925.875 Smith-Lemli-Opitz Syndrome .
D04 Polycyclic Compounds .
D04.210 Fused-Ring Compounds .
D04.210.500 Steroids .
D04.210.500.247 Cholestanes .
D04.210.500.247.222 Cholestenes .
D04.210.500.247.222.222 Cholestadienes .
D04.210.500.247.222.222.347 Cholestadienols .
D04.210.500.247.222.222.347.200 Dehydrocholesterols .
D04.210.500.247.808 Sterols .
D04.210.500.247.808.197 Cholesterol .
D04.210.500.247.808.197.250 Dehydrocholesterols .
D10 Lipids .
D10.570 Membrane Lipids .
D10.570.938 Sterols .
D10.570.938.208 Cholesterol .
D10.570.938.208.320 Dehydrocholesterols .
 
 Termos
 Sinônimos e Históricos
Documentos
LILACS e MDL
 
Smith-Lemli-Opitz Syndrome .
7-Dehydrocholesterol Reductase Deficiency .
Hyperotosis Corticalis Generalisata Familiaris .
Lethal Acrodysgenital Syndrome .
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung .
RSH Syndrome .
RSH-SLO Syndrome .
Rutledge Friedman Harrod Syndrome .
Rutledge Lethal Multiple Congenital Anomaly Syndrome .
SLO Syndrome .
Smith Lemli Opitz syndrome, type 1 .
Smith-Lemli-Opitz Syndrome, Type 1 .
Smith-Lemli-Opitz Syndrome, Type 2 .
Smith-Lemli-Opitz Syndrome, Type I .
Smith-Lemli-Opitz Syndrome, Type II .
7-Dehydrocholesterol Reductase Deficiencies .
Acrodysgenital Syndrome, Lethal .
Acrodysgenital Syndromes, Lethal .
Deficiencies, 7-Dehydrocholesterol Reductase .
Deficiency, 7-Dehydrocholesterol Reductase .
Lethal Acrodysgenital Syndromes .
RSH SLO Syndrome .
RSH Syndromes .
RSH-SLO Syndromes .
Reductase Deficiencies, 7-Dehydrocholesterol .
Reductase Deficiency, 7-Dehydrocholesterol .
SLO Syndromes .
Smith Lemli Opitz Syndrome .
Smith Lemli Opitz Syndrome, Type 2 .
Smith Lemli Opitz Syndrome, Type I .
Smith Lemli Opitz Syndrome, Type II .
Syndrome, Lethal Acrodysgenital .
Syndrome, RSH .
Syndrome, SLO .
Syndromes, RSH .
Syndromes, SLO .
1.00
14526
 
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 .
0.60
1765797
 
Dehydrocholesterols .
(Z)-3 beta-Hydroxycholesta-5,27(20)-diene .
0.59
2425