Congenital dyserythropoietic anemia, type III

disorder

SNOMED 26409005CUI C0271934

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.

Increased lactate dehydrogenase level

Always present (100%)HP:0025435

Reduced haptoglobin level

Always present (100%)HP:0020181

Anisocytosis

Very frequent (80-99%)HP:0011273

Low number of red blood cells or haemoglobin

Very frequent (80-99%)HP:0001903

Poikilocytosis

Very frequent (80-99%)HP:0004447

Abnormal cellular phenotype

Frequent (30-79%)HP:0025354

Abnormal erythroid lineage cell morphology

Frequent (30-79%)HP:0012130

Abnormal proerythroblast morphology

Frequent (30-79%)HP:0025035

High blood bilirubin levels

Frequent (30-79%)HP:0002904

Increased circulating iron concentration

Frequent (30-79%)HP:0003452

Increased MCV

Frequent (30-79%)HP:0005518

Increased total iron binding capacity

Frequent (30-79%)HP:0025196

Tiredness

Frequent (30-79%)HP:0012378

Abnormality of erythroid lineage cell

Occasional (5-29%)HP:0001877

Bleeding gums

Occasional (5-29%)HP:0000225

Elevated liver enzymes

Occasional (5-29%)HP:0002910

Headache

Occasional (5-29%)HP:0002315

Melena

Occasional (5-29%)HP:0002249

Oral cavity bleeding

Occasional (5-29%)HP:0030140

Paleness

Occasional (5-29%)HP:0000980

Post-partum hemorrhage

Occasional (5-29%)HP:0011891

Decreased body height

Very rare (1-4%)HP:0004322

Congenital hypoplastic anaemia

HP:0004810

Double-nucleated erythroblast

HP:0034278

Hemosiderinuria

HP:0012543

Ineffective erythropoiesis

HP:0010972

Macrocytic anemia

HP:0001972

Yellowing of the skin

HP:0000952

Related Conditions

Congenital dyserythropoietic anemia(parent)

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 26409005
UMLS CUI: C0271934
Fully Specified Name: Congenital dyserythropoietic anemia, type III (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.