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Concept information

Preferred term

Telangiectasia, Hereditary Hemorrhagic  

Type

  • Topical Descriptor

Entry terms

  • Hereditary Hemorrhagic Telangiectasia
  • Osler Disease
  • Osler Rendu Disease
  • Osler-Rendu Disease
  • Osler Rendu Weber Disease
  • Osler-Rendu-Weber Disease
  • Osler's Disease
  • Osler Weber Rendu Syndrome
  • Osler-Weber-Rendu Syndrome
  • Rendu Osler Weber Disease
  • Rendu-Osler-Weber Disease
  • Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
  • Weber Osler Disease
  • Weber-Osler Disease
  • Weber Osler Syndrome
  • Weber-Osler Syndrome

Scope note

  • An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.

History note

  • 1968(1966); for OSLER-RENDU DISEASE use ANGIOMATOSIS 1963-1967

In other languages

  • Finnish

  • hereditaarinen hemorraginen telangiektasia
  • hereditaarinen hemorraginen teleangiektasia
  • hereditäärinen hemorraginen telangiektasia
  • hereditäärinen hemorraginen teleangiektasia
  • morbus Osler
  • morbus Osler-Rendu
  • morbus Rendu-Osler-Weber
  • Osler
  • Osler-Rendu
  • Osler-Rendun tauti
  • Oslerin tauti
  • perinnöllinen hemorraginen telangiektasia
  • perinnöllinen hemorraginen teleangiektasia
  • perinnöllinen verenvuotoinen telangiektasia
  • periytyvä hemorraginen telangiektasia
  • periytyvä hemorraginen teleangiektasia
  • polycythaemia rubra
  • polycythaemia rubra vera
  • Rendu
  • Rendu-Osler-Weber
  • Rendu-Osler-Weberin sairaus
  • Rendu-Osler-Weberin tauti
  • Rendu-Osler-Webers sjukdom
  • telangiectasia hemorrhagica hereditaria
  • ärftlig hemorragisk telangiektasi
  • Swedish

  • Oslers sjukdom

URI

http://www.yso.fi/onto/mesh/D013683

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