serw-MX  [xml]  
 


    
 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 .
C10.228.140.163.100.362 Hereditary Central Nervous System Demyelinating Diseases .
C10.228.140.163.100.362.375 Canavan Disease .
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System .
C10.228.140.163.100.435.825 Sphingolipidoses .
C10.228.140.163.100.435.825.200 Fabry Disease .
C10.228.140.163.100.937 Urea Cycle Disorders, Inborn .
C10.228.140.163.100.937.374 Citrullinemia .
C10.228.140.300 Cerebrovascular Disorders .
C10.228.140.300.275 Cerebral Small Vessel Diseases .
C10.228.140.300.275.374 Fabry Disease .
C10.228.140.695 Leukoencephalopathies .
C10.228.140.695.625 Hereditary Central Nervous System Demyelinating Diseases .
C10.228.140.695.625.375 Canavan Disease .
C10.314 Demyelinating Diseases .
C10.314.400 Hereditary Central Nervous System Demyelinating Diseases .
C10.314.400.375 Canavan Disease .
C10.574 Neurodegenerative Diseases .
C10.574.500 Heredodegenerative Disorders, Nervous System .
C10.574.500.300 Canavan Disease .
C14 Cardiovascular Diseases .
C14.907 Vascular Diseases .
C14.907.253 Cerebrovascular Disorders .
C14.907.253.329 Cerebral Small Vessel Diseases .
C14.907.253.329.374 Fabry Disease .
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 .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.124 Fabry Disease .
C16.320.400 Heredodegenerative Disorders, Nervous System .
C16.320.400.150 Canavan Disease .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.940 Urea Cycle Disorders, Inborn .
C16.320.565.100.940.374 Citrullinemia .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.362 Hereditary Central Nervous System Demyelinating Diseases .
C16.320.565.189.362.375 Canavan Disease .
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System .
C16.320.565.189.435.825 Sphingolipidoses .
C16.320.565.189.435.825.200 Fabry Disease .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.374 Citrullinemia .
C16.320.565.398 Lipid Metabolism, Inborn Errors .
C16.320.565.398.641 Lipidoses .
C16.320.565.398.641.803 Sphingolipidoses .
C16.320.565.398.641.803.300 Fabry Disease .
C16.320.565.595 Lysosomal Storage Diseases .
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System .
C16.320.565.595.554.825 Sphingolipidoses .
C16.320.565.595.554.825.200 Fabry Disease .
C16.320.565.925 Steroid Metabolism, Inborn Errors .
C16.320.565.925.324 Antley-Bixler Syndrome Phenotype .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.362 Hereditary Central Nervous System Demyelinating Diseases .
C18.452.132.100.362.375 Canavan Disease .
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System .
C18.452.132.100.435.825 Sphingolipidoses .
C18.452.132.100.435.825.200 Fabry Disease .
C18.452.132.100.937 Urea Cycle Disorders, Inborn .
C18.452.132.100.937.374 Citrullinemia .
C18.452.584 Lipid Metabolism Disorders .
C18.452.584.687 Lipidoses .
C18.452.584.687.803 Sphingolipidoses .
C18.452.584.687.803.300 Fabry Disease .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.940 Urea Cycle Disorders, Inborn .
C18.452.648.100.940.374 Citrullinemia .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.362 Hereditary Central Nervous System Demyelinating Diseases .
C18.452.648.189.362.375 Canavan Disease .
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System .
C18.452.648.189.435.825 Sphingolipidoses .
C18.452.648.189.435.825.200 Fabry Disease .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.374 Citrullinemia .
C18.452.648.398 Lipid Metabolism, Inborn Errors .
C18.452.648.398.641 Lipidoses .
C18.452.648.398.641.803 Sphingolipidoses .
C18.452.648.398.641.803.300 Fabry Disease .
C18.452.648.595 Lysosomal Storage Diseases .
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System .
C18.452.648.595.554.825 Sphingolipidoses .
C18.452.648.595.554.825.200 Fabry Disease .
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 .
 
 Termos
 Sinônimos e Históricos
Documentos
LILACS e MDL
 
/deficiency .
1.00
 
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 .
0.83
 
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 .
0.81
 
Protein Deficiency .
Deficiency, Protein .
Deficiencies, Protein .
Protein Deficiencies .
Protein Malnutrition .
0.80
 
Canavan Disease .
ACY2 Deficiency .
ASP Deficiency .
ASPA Deficiency .
Aminoacylase 2 Deficiency .
Aspartoacylase Deficiency .
Canavan Disease, Familial Form .
Canavan Disease, Infantile .
Canavan Disease, Juvenile .
Canavan Disease, Neonatal .
Canavan Disease, Sporadic Form .
Canavan Disease, Type I .
Canavan Disease, Type II .
Canavan Disease, Type III .
Canavan-van Bogaert-Bertrand Disease .
Deficiency Disease, Aspartoacylase .
Familial Form of Canavan Disease .
Infantile Canavan Disease .
Juvenile Canavan Disease .
Leukodystrophy, Spongiform .
Neonatal Canavan Disease .
Spongy Degeneration Of Central Nervous System .
Spongy Degeneration of Infancy .
Spongy Degeneration of White Matter In Infancy .
Spongy Degeneration of the Brain .
Spongy Degeneration of the Central Nervous System .
Spongy Disease of Central Nervous System .
Spongy Disease of White Matter .
Sporadic Form of Canavan Disease .
Type I Canavan Disease .
Type II Canavan Disease .
Type III Canavan Disease .
Van Bogaert-Bertrand Syndrome .
Von Bogaert-Bertrand Disease .
Canavan van Bogaert Bertrand Disease .
Disease, Canavan .
Disease, Canavan-van Bogaert-Bertrand .
Disease, Von Bogaert-Bertrand .
Spongiform Leukodystrophy .
Syndrome, Van Bogaert-Bertrand .
Van Bogaert Bertrand Syndrome .
Von Bogaert Bertrand Disease .
Canavan-van Bogaert-Bertrand Disease .
Leukodystrophy, Spongiform .
Spongy Disease of White Matter .
0.80
 
Fabry Disease .
Angiokeratoma Diffuse .
Angiokeratoma, Diffuse .
Ceramide Trihexosidase Deficiency .
Fabry's Disease .
GLA Deficiency .
Hereditary Dystopic Lipidosis .
alpha-Galactosidase A Deficiency .
alpha-Galactosidase A Deficiency Disease .
Anderson Fabry Disease .
Deficiency, Ceramide Trihexosidase .
Deficiency, GLA .
Deficiency, alpha-Galactosidase A .
Diffuse Angiokeratoma .
Lipidosis, Hereditary Dystopic .
alpha Galactosidase A Deficiency .
alpha Galactosidase A Deficiency Disease .
Angiokeratoma Corporis Diffusum .
Anderson-Fabry Disease .
0.79
 
Deficiency Diseases .
Deficiency Disease .
Disease, Deficiency .
Diseases, Deficiency .
0.79