Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

aligner
annoter
télécharger

Concept information

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

Terme préférentiel

Mucopolysaccharidosis IV  

Type

  • mesh:Descriptor

Définition

  • Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.

Concept générique

Synonyme(s)

  • Eccentro-Osteochondrodysplasia
  • Eccentroosteochondrodysplasia
  • Morquio Disease
  • Morquio's Disease
  • Morquio's Syndrome
  • Morquio Syndrome
  • Mucopolysaccharidosis 4
  • Mucopolysaccharidosis Type IV

Qualificatif(s) autorisé(s)

Traductions

  • Mucopolysaccharidose de type IV

    français

  • Maladie de Morquio
  • MPS IV
  • Mucopolysaccharidose de Morquio
  • Mucopolysaccharidose de type 4
  • Ostéochondrodysplasie type Morquio
  • Syndrome de Morquio

URI

http://data.loterre.fr/ark:/67375/JVR-V8WMD259-L

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 08/07/2013