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Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia
disorderSNOMED 1149069001CUI C1832942
Overview
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cavernous haemangioma
Always present (100%)HP:0001048
Cerebral hemorrhage
Always present (100%)HP:0001342
Cyanotic episode
Always present (100%)HP:0200048
Epilepsy
Always present (100%)HP:0001250
Juvenile colonic polyposis
Always present (100%)HP:0012198
Juvenile GI polyposis
Always present (100%)HP:0004784
Pancytopenia
Always present (100%)HP:0001876
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Digital clubbing
Frequent (30-79%)HP:0001217
Frequent nosebleeds
Frequent (30-79%)HP:0000421
Hepatic arteriovenous malformation
Frequent (30-79%)HP:0006574
Pulmonary AV malformation
Frequent (30-79%)HP:0006548
Spider veins
Frequent (30-79%)HP:0001009
Cerebral vascular events
Occasional (5-29%)HP:0001297
Quick Facts
- SNOMED CT
- 1149069001
- UMLS CUI
- C1832942
- Fully Specified Name
- Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.