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 DeCS Categories

C05 Musculoskeletal Diseases .
C05.651 Muscular Diseases .
C05.651.662 Myotonic Disorders .
C10 Nervous System Diseases .
C10.668 Neuromuscular Diseases .
C10.668.491 Muscular Diseases .
C10.668.491.606 Myotonic Disorders .
C15 Hemic and Lymphatic Diseases .
C15.378 Hematologic Diseases .
C15.378.100 Blood Coagulation Disorders .
C15.378.100.100 Blood Coagulation Disorders, Inherited .
C15.378.100.100.900 von Willebrand Diseases .
C15.378.100.141 Coagulation Protein Disorders .
C15.378.100.141.900 von Willebrand Diseases .
C15.378.140 Blood Platelet Disorders .
C15.378.140.900 von Willebrand Diseases .
C15.378.463 Hemorrhagic Disorders .
C15.378.463.920 von Willebrand Diseases .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.099 Blood Coagulation Disorders, Inherited .
C16.320.099.920 von Willebrand Diseases .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors .
C16.320.565.202.449 Glycogen Storage Disease .
C16.320.565.202.449.448 Glycogen Storage Disease Type I .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors .
C18.452.648.202.449 Glycogen Storage Disease .
C18.452.648.202.449.448 Glycogen Storage Disease Type I .
 
 Terms
 Synonyms & Historicals
Documents
LILACS e MDL
 
Myotonic Disorders .
Eulenburg Disease .
Eulenburg's Disease .
Paralysis Periodica Paramyotonia .
Paramyotonia Congenita Without Cold Paralysis .
Paramyotonia Congenita of von Eulenberg .
Von Eulenberg's Disease .
Disorder, Myotonic .
Disorders, Myotonic .
Myopathy, Myotonic .
Myotonic Disorder .
Myotonic Myopathies .
Myotonic Myopathy .
Von Eulenberg Disease .
Myopathies, Myotonic .
Myotonia Fluctuans .
Paramyotonia Congenita .
Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition. .
1.00
2242
 
Glycogen Storage Disease Type I .
Deficiency, Glucosephosphatase .
Gierke Disease .
Gierke's Disease .
Glycogen Storage Disease 1 (GSD I) .
von Gierke's Disease .
Deficiencies, Glucose-6-Phosphatase .
Deficiencies, Glucosephosphatase .
Deficiency, Glucose-6-Phosphatase .
Disease, Gierke .
Disease, Gierke's .
Disease, von Gierke .
Disease, von Gierke's .
Gierkes Disease .
Glucose 6 Phosphatase Deficiency .
Glucose-6-Phosphatase Deficiencies .
Glucosephosphatase Deficiencies .
von Gierkes Disease .
Glucosephosphatase Deficiency .
Glucose-6-Phosphatase Deficiency .
Glycogenosis 1 .
Hepatorenal Glycogen Storage Disease .
von Gierke Disease .
Von Gierke's Disease .
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. .
0.51
231247
 
von Willebrand Diseases .
Vascular Pseudohemophilia .
Von Willebrand Disorder .
Von Willebrand's Factor Deficiency .
von Willebrand Disease, Recessive Form .
von Willebrand's Disease .
von Willebrand's Diseases .
Angiohemophilias .
Disorder, Von Willebrand .
Pseudohemophilia, Vascular .
Pseudohemophilias, Vascular .
Vascular Hemophilia .
Vascular Hemophilias .
Vascular Pseudohemophilias .
Angiohemophilia .
Hemophilia, Vascular .
von Willebrand Disease .
Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion. .
0.50
1344788