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Concept information

Terme préférentiel

Hyalinosis, Systemic  

Type

  • mesh:Descriptor

Définition

  • Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.

Concept générique

Synonyme(s)

  • Fibromatosis Hyalinica Multiplex Juvenilis
  • Fibromatosis Juvenile Hyaline
  • Fibromatosis, Juvenile Hyaline
  • Hyaline Fibromatosis Juvenile
  • Hyaline Fibromatosis Syndrome
  • Hyalinosis, Systemic Juvenile
  • Infantile Systemic Hyalinosis
  • Juvenile Hyaline Fibromatosis
  • Juvenile Hyalinosis
  • Murray Syndrome
  • Puretic Syndrome
  • Systemic Hyalinosis

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-XJ61GNCZ-C

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RDF/XML TURTLE JSON-LD Date de création 25/06/2010, dernière modification le 18/06/2015