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Concept information

... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis VI
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis VI
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Mucinoses > Mucopolysaccharidoses > Mucopolysaccharidosis VI
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis VI
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis VI

Terme préférentiel

Mucopolysaccharidosis VI  

Type

  • mesh:Descriptor

Définition

  • Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).

Concept générique

Synonyme(s)

  • ARSB Deficiency
  • Arylsulfatase B Deficiency
  • Maroteaux-Lamy Syndrome
  • Mucopolysaccharidosis 6
  • Mucopolysaccharidosis Type 6
  • Mucopolysaccharidosis Type VI
  • N-Acetylgalactosamine-4-Sulfatase Deficiency
  • Polydystrophic Dwarfism

Qualificatif(s) autorisé(s)

Traductions

  • Mucopolysaccharidose de type VI

    français

  • Déficit en arylsulfatase B
  • Maladie de Maroteaux-Lamy
  • MPS VI
  • Mucopolysaccharidose de type 6
  • Nanisme polydystrophique de Maroteaux-Lamy
  • Syndrome de Maroteaux-Lamy

URI

http://data.loterre.fr/ark:/67375/JVR-GMCP4SXC-K

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RDF/XML TURTLE JSON-LD Date de création 12/12/1974, dernière modification le 08/07/2013