Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Carotid artery stenosis
Always present (100%)HP:0100546
Corneal arcus
Always present (100%)HP:0001084
Coronary disease
Always present (100%)HP:0001677
Increased lactate dehydrogenase level
Always present (100%)HP:0025435
Low number of red blood cells or haemoglobin
Always present (100%)HP:0001903
Reduced haptoglobin level
Always present (100%)HP:0020181
Reticulocytosis
Always present (100%)HP:0001923
Thrombocytopenia
Always present (100%)HP:0001873
Xanthoma
Always present (100%)HP:0001114
Arthralgias
Frequent (30-79%)HP:0002829
Elevated serum cholesterol
Frequent (30-79%)HP:0003124
Elevated serum transaminases
Frequent (30-79%)HP:0002910
Giant platelets
Frequent (30-79%)HP:0001902
Hemolytic anaemia
Frequent (30-79%)HP:0001878
Large spleen
Frequent (30-79%)HP:0001744
Macrothrombocytopenia
Frequent (30-79%)HP:0040185
Premature coronary artery atherosclerosis
Frequent (30-79%)HP:0005181
Red cell stomatocytosis
Frequent (30-79%)HP:0004446
Xanthomatosis
Frequent (30-79%)HP:0000991
Aortic stenosis
Occasional (5-29%)HP:0001650
Joint pain/Joint inflammation
Occasional (5-29%)HP:0005059
Arthritis
HP:0001369
Bleeding tendency
HP:0001892
Chronic hemolytic anaemia
HP:0004870
Elevated circulating sitosterol concentration
HP:0033341
Episodic hemolytic anaemia
HP:0004802
Hyperapobetalipoproteinemia
HP:0008158
Impaired platelet aggregation
HP:0003540
Tuberous xanthoma
HP:0031290
Upset stomach
HP:0002027
Quick Facts
- SNOMED CT
- 238104009
- UMLS CUI
- C0342907
- Fully Specified Name
- Sitosterolemia (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.