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Concept information

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

Terme préférentiel

Mucopolysaccharidoses  

Type

  • mesh:Descriptor

Définition

  • Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Mucopolysaccharidosis

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-FVFLF5RW-L

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 05/07/2006