About: Hereditary Hemorrhagic Telangiectasia     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Hereditary Hemorrhagic Telangiectasia
rdfs:subClassOf
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Hereditary Hemorrhagic Telangiectasia
UMLS_CUI
  • C0039445
ALT_DEFINITION
  • An autosomal dominant vascular anomaly characterized by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (Dorland, 27th ed)MSH2003_2003_05_12
Legacy_Concept_Name
  • Hereditary_Hemorrhagic_Telangiectasia
FULL_SYN
  • Osler-Weber-Rendu DiseaseSYNCI
  • Telangiectasia, Hereditary Hemorrahagic, of Rendu, OslerSYNCI
  • Hereditary Hemorrhagic TelangiectasiaPTNCI
DEFINITION
  • An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.NCI
code
  • C35064
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