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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
Nervous System Diseases > Demyelinating Diseases > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Leukoencephalopathies > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell

Terme préférentiel

Leukodystrophy, Globoid Cell  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

Concept générique

Concepts associés

Synonyme(s)

  • Diffuse Globoid Body Sclerosis
  • Galactocerebrosidase Deficiency
  • Galactosylceramidase Deficiency Disease
  • Galactosylceramide beta-Galactosidase Deficiency
  • Galactosylceramide-beta-Galactosidase Deficiency Disease
  • Galactosylceramide Lipidosis
  • Galactosylcerebrosidase Deficiency
  • Galactosylsphingosine Lipidosis
  • GALC Deficiency
  • Globoid Body Sclerosis, Diffuse
  • Globoid Cell Leukodystrophy
  • Globoid Cell Leukoencephalopathy
  • Globoid Leukodystrophy
  • Krabbe Disease
  • Krabbe Leukodystrophy
  • Krabbe's Disease
  • Krabbe's Leukodystrophy
  • Psychosine Lipidosis

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-N80FWJKX-2

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 01/07/2021