Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Panting
Always present (100%)HP:0002094
Angioectasias of the tongue
Very frequent (80-99%)HP:0000227
Labial angioectasias
Very frequent (80-99%)HP:0000214
Mucosal telangiectasiae
Very frequent (80-99%)HP:0100579
Nasal hemorrhage
Very frequent (80-99%)HP:0000421
Spontaneous, recurrent nosebleed
Very frequent (80-99%)HP:0004406
Telangiectasia
Very frequent (80-99%)HP:0001009
Telangiectasia of mucosa of nose
Very frequent (80-99%)HP:0000434
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Abnormal cardiovascular system physiology
Frequent (30-79%)HP:0011025
Arteriovenous malformation
Frequent (30-79%)HP:0100026
Hepatic arteriovenous malformation
Frequent (30-79%)HP:0006574
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Migraine headache
Frequent (30-79%)HP:0002076
Portal hypertension
Frequent (30-79%)HP:0001409
Pulmonary AV malformation
Frequent (30-79%)HP:0006548
Visceral angiomatosis
Frequent (30-79%)HP:0100761
Abnormality of the cerebral blood vessels
Occasional (5-29%)HP:0100659
Blood clot in artery of lung
Occasional (5-29%)HP:0002204
Blood clot in vein
Occasional (5-29%)HP:0004936
Cerebral AV malformation
Occasional (5-29%)HP:0002408
Chronic heart failure
Occasional (5-29%)HP:0001635
Cirrhosis
Occasional (5-29%)HP:0001394
Epilepsy
Occasional (5-29%)HP:0001250
Esophageal varix
Occasional (5-29%)HP:0002040
Gastrointestinal haemorrhage
Occasional (5-29%)HP:0002239
GI arteriovenous malformation
Occasional (5-29%)HP:0002629
Growths in inner lining of intestine
Occasional (5-29%)HP:0200008
Haemoptysis
Occasional (5-29%)HP:0002105
Hepatic insufficiency
Occasional (5-29%)HP:0001399
Related Conditions
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia(child)
Hereditary hemorrhagic telangiectasia of gingiva(child)
Telangiectasia disorder(parent)
Hereditary dysplasia of blood vessel(parent)
Autosomal dominant hereditary disorder(parent)
Congenital arteriovenous malformation(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 21877004
- UMLS CUI
- C0039445
- Fully Specified Name
- Osler hemorrhagic telangiectasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.