Overview
Congenital dyserythropoietic anemia type IV 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.
Anisocytosis
Always present (100%)HP:0011273
Decreased haemoglobin concentration
Always present (100%)HP:0020062
Frontal protuberance
Always present (100%)HP:0002007
Hepatosplenomegaly
Always present (100%)HP:0001433
Hypospadias
Always present (100%)HP:0000047
Increased lactate dehydrogenase level
Always present (100%)HP:0025435
Increased RBC distribution width
Always present (100%)HP:0031965
Low hematocrit
Always present (100%)HP:0031851
Low number of red blood cells or hemoglobin
Always present (100%)HP:0001903
Poikilocytosis
Always present (100%)HP:0004447
Reduced haptoglobin level
Always present (100%)HP:0020181
Reticulocytosis
Always present (100%)HP:0001923
Schistocytes
Always present (100%)HP:0001981
Unconjugated hyperbilirubinemia
Always present (100%)HP:0008282
Weight loss
Always present (100%)HP:0001824
Bone marrow biopsy shows erythroid hyperplasia
Frequent (30-79%)HP:0012132
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Circulating nucleated red blood cells
Frequent (30-79%)HP:0033281
Decreased body height
Frequent (30-79%)HP:0004322
Enlarged liver
Frequent (30-79%)HP:0002240
Hemolytic anaemia
Frequent (30-79%)HP:0001878
High blood bilirubin levels
Frequent (30-79%)HP:0002904
Hypothyroidism
Frequent (30-79%)HP:0000821
Large spleen
Frequent (30-79%)HP:0001744
Persistence of haemoglobin F
Frequent (30-79%)HP:0011904
Short penis
Frequent (30-79%)HP:0000054
Wider-than-typical soft spot of skull
Frequent (30-79%)HP:0000260
Hydrops fetalis
Occasional (5-29%)HP:0001789
Ineffective erythropoiesis
HP:0010972
Quick Facts
- SNOMED CT
- 719453009
- UMLS CUI
- C3150926
- Fully Specified Name
- Congenital dyserythropoietic anemia type IV (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.