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Hereditary persistence of fetal hemoglobin thalassemia
disorderSNOMED 16964007CUI C0271994
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Large spleen
Very frequent (80-99%)HP:0001744
Low number of red blood cells or haemoglobin
Very frequent (80-99%)HP:0001903
Paleness
Very frequent (80-99%)HP:0000980
Persistence of haemoglobin F
Very frequent (80-99%)HP:0011904
Abnormal bone structure
Frequent (30-79%)HP:0003330
Enlarged liver
Frequent (30-79%)HP:0002240
Related Conditions
HPFH unlinked to beta-globulin gene cluster(child)
HPFH A gamma beta^+^ thalassemia(child)
Hereditary persistence of fetal hemoglobin delta beta plus thalassemia(child)
HPFH nondeletion type(child)
Hereditary persistence of fetal hemoglobin G gamma beta plus thalassemia(child)
HPFH deletion type(child)
HPFH linked to beta-globulin gene cluster(child)
Thalassemia(parent)
Quick Facts
- SNOMED CT
- 16964007
- UMLS CUI
- C0271994
- Fully Specified Name
- Hereditary persistence of fetal hemoglobin thalassemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 6
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.