Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased red cell osmotic fragility
Very frequent (80-99%)HP:0005502
Enlarged liver
Frequent (30-79%)HP:0002240
Gallstones
Frequent (30-79%)HP:0001081
High blood bilirubin levels
Frequent (30-79%)HP:0002904
Hypercoagulability
Frequent (30-79%)HP:0100724
Increased mean corpuscular haemoglobin concentration
Frequent (30-79%)HP:0025548
Large spleen
Frequent (30-79%)HP:0001744
Low fibrinogen level
Frequent (30-79%)HP:0011900
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Muscle weakness
Frequent (30-79%)HP:0001324
Paleness
Frequent (30-79%)HP:0000980
Reticulocytosis
Frequent (30-79%)HP:0001923
Spherocytosis
Frequent (30-79%)HP:0004444
Spontaneous hemolytic crises
Frequent (30-79%)HP:0005525
Yellowing of the skin
Frequent (30-79%)HP:0000952
Ataxia
Occasional (5-29%)HP:0001251
Chills
Occasional (5-29%)HP:0025143
Extramedullary erythropoiesis
Occasional (5-29%)HP:0001978
Maculopapular exanthema
Occasional (5-29%)HP:0040186
Muscle pain
Occasional (5-29%)HP:0003326
Pyrexia
Occasional (5-29%)HP:0001945
Restrictive cardiomyopathy
Occasional (5-29%)HP:0001723
Stomach pain
Occasional (5-29%)HP:0002027
Belly bloating
Very rare (1-4%)HP:0003270
Gout
Very rare (1-4%)HP:0001997
Open skin sore
Very rare (1-4%)HP:0200042
Very poor growth
Very rare (1-4%)HP:0001510
Related Conditions
Hereditary spherocytosis due to spectrin deficiency(child)
Hereditary spherocytosis due to deficiency of protein 4.2(child)
Hereditary spherocytosis due to beta spectrin defect(child)
Anemia due to membrane defect(parent)
Autosomal hereditary disorder(parent)
Erythrocyte membrane abnormality(parent)
Hereditary hemolytic anemia(parent)
Quick Facts
- SNOMED CT
- 55995005
- UMLS CUI
- C0037889
- Fully Specified Name
- Hereditary spherocytosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.