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Metadata
ID DOID:1270
Name hereditary hemorrhagic telangiectasia
Definition A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, http://www.ncbi.nlm.nih.gov/books/NBK1351/
Xrefs

GARD:6626

ICD10CM:I78.0

ICD9CM:448.0

MESH:D013683

NCI:C35064

OMIM:187300

OMIM:600376

OMIM:601101

OMIM:615506

ORDO:774

SNOMEDCT_US_2020_09_01:266324004

UMLS_CUI:C0039445

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Osler hemorrhagic telangiectasia syndrome [EXACT]

Osler-Weber-Rendu disease [EXACT]

Rendu-Osler-Weber disease [EXACT]

Parent Relationships

is_a vascular disease

is_a autosomal dominant disease

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