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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Gaucher Disease

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Gaucher Disease  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. This type shows moderate to severe neurological effect in childhood. This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry. This type usually shows severe neurological effect in the first year of life.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Acid beta-Glucosidase Deficiency
  • Acid beta-Glucosidase Deficiency Disease
  • Cerebroside Lipidosis Syndrome
  • Gaucher Splenomegaly
  • Gaucher Syndrome
  • Gaucher's Disease
  • Gauchers Disease
  • Glucocerebrosidase Deficiency
  • Glucocerebrosidase Deficiency Disease
  • Glucocerebrosidosis
  • Glucosyl Cerebroside Lipidosis
  • Glucosylceramidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency
  • Glucosylceramide Beta-Glucosidase Deficiency Disease
  • Glucosylceramide Lipidosis
  • Kerasin Histiocytosis
  • Kerasin Lipoidosis
  • Kerasin thesaurismosis
  • Lipoid Histiocytosis (Kerasin Type)

En otras lenguas

  • Maladie de Gaucher

    francés

  • Déficit en bêta-glucocérébrosidase
  • Sphingolipidose héréditaire de Gaucher

URI

http://data.loterre.fr/ark:/67375/JVR-HLT6W05B-B

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