Hemoglobin D disease

disorder

SNOMED 66729008CUI C0272080

Overview

Hemoglobin D disease 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.

Abnormal Hb

Very frequent (80-99%)HP:0011902

Imbalanced hemoglobin synthesis

Very frequent (80-99%)HP:0005560

Decreased MCV

Frequent (30-79%)HP:0025066

Decreased mean corpuscular haemoglobin

Frequent (30-79%)HP:0025547

Increased hemoglobin A2

Frequent (30-79%)HP:0045048

Reduced alpha/beta synthesis ratio

Frequent (30-79%)HP:0011907

Reduced beta/alpha synthesis ratio

Frequent (30-79%)HP:0011906

Reduced HbA

Frequent (30-79%)HP:0011905

HbS haemoglobin

Occasional (5-29%)HP:0045047

Sickled erythrocytes

Occasional (5-29%)HP:0030058

Abdominal discomfort

Very rare (1-4%)HP:0002027

Decreased haemoglobin

Very rare (1-4%)HP:0001903

Large spleen

Very rare (1-4%)HP:0001744

Paleness

Very rare (1-4%)HP:0000980

Related Conditions

Haemoglobin D beta zero thalassaemia(child)

Haemoglobin D beta plus thalassaemia(child)

Hemoglobin D/beta thalassemia disease(child)

Hereditary hemoglobinopathy due to globin chain mutation(parent)

Quick Facts

SNOMED CT: 66729008
UMLS CUI: C0272080
Fully Specified Name: Hemoglobin D disease (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.