Beta thalassemia intermedia

disorder

SNOMED 191189009CUI C0472767

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ineffective erythropoiesis

Very frequent (80-99%)HP:0010972

Microcytosis

Very frequent (80-99%)HP:0025066

Osteoporosis

Very frequent (80-99%)HP:0000939

Persistence of haemoglobin F

Very frequent (80-99%)HP:0011904

Abnormality of iron homeostasis

Frequent (30-79%)HP:0011031

Bone marrow smear shows erythroid hyperplasia

Frequent (30-79%)HP:0012132

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Extramedullary hematopoiesis

Frequent (30-79%)HP:0001978

Hypercoagulability

Frequent (30-79%)HP:0100724

Increased hemoglobin A2

Frequent (30-79%)HP:0045048

Increased susceptibility to fractures

Frequent (30-79%)HP:0002659

Open skin sore

Frequent (30-79%)HP:0200042

Paleness

Frequent (30-79%)HP:0000980

Skeletal anomalies

Frequent (30-79%)HP:0000924

Yellowing of the skin

Frequent (30-79%)HP:0000952

Cardiovascular disease

Occasional (5-29%)HP:0001626

Elevated hepatic iron concentration

Occasional (5-29%)HP:0012465

Enlarged liver

Occasional (5-29%)HP:0002240

Gallstones

Occasional (5-29%)HP:0001081

Hepatosplenomegaly

Occasional (5-29%)HP:0001433

High-output congestive heart failure

Occasional (5-29%)HP:0001722

Increased total leukocyte count

Occasional (5-29%)HP:0001974

Large spleen

Occasional (5-29%)HP:0001744

Liver disease

Occasional (5-29%)HP:0001392

Liver dysfunction, mild

Occasional (5-29%)HP:0001410

Osteopenia

Occasional (5-29%)HP:0000938

Pulmonary artery hypertension

Occasional (5-29%)HP:0002092

Selective proximal tubular damage

Occasional (5-29%)HP:0000114

Cirrhosis

Very rare (1-4%)HP:0001394

Decreased activity of gonads

Very rare (1-4%)HP:0000135

Related Conditions

Beta thalassemia(parent)

Quick Facts

SNOMED CT: 191189009
UMLS CUI: C0472767
Fully Specified Name: Beta thalassemia intermedia (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.