Preferred Label : Hereditary Hemorrhagic Telangiectasia;
NCIt synonyms : Osler-Weber-Rendu Disease; Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler;
NCIt 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.;
Codes from synonyms : I78.0;
Origin ID : C35064;
UMLS CUI : C0039445;
- Currated CISMeF NLP mapping
- DO Cross reference
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_finding
- pathogenesis_of_disease_involves_gene