Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Birth weight less than 10th percentile
Always present (100%)HP:0001518
Bone marrow biopsy shows erythroid hyperplasia
Always present (100%)HP:0012132
Degmacytes
Always present (100%)HP:0020122
Enlarged liver
Always present (100%)HP:0002240
Hemolytic anaemia
Always present (100%)HP:0001878
High blood bilirubin levels
Always present (100%)HP:0002904
Increased lactate dehydrogenase level
Always present (100%)HP:0025435
Schistocytes
Always present (100%)HP:0001981
Syndactyly
Occasional (5-29%)HP:0001159
Anisocytosis
HP:0011273
Endopolyploidy on chromosome studies of bone marrow
HP:0003352
Hydrops fetalis
HP:0001789
Ineffective erythropoiesis
HP:0010972
Jaundice, neonatal
HP:0006579
Large spleen
HP:0001744
Macrocytic dyserythropoietic anemia
HP:0005532
Mild postnatal growth retardation
HP:0001530
Poikilocytosis
HP:0004447
Reduced level of N-acetylglucosaminyltransferase II
HP:0003655
Reticulocytosis
HP:0001923
Quick Facts
- SNOMED CT
- 59548005
- UMLS CUI
- C0271933
- Fully Specified Name
- Congenital dyserythropoietic anemia, type I (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.