Congenital dyserythropoietic anemia, type II

disorder

SNOMED 68870007CUI C1306589

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.

Reticulocytosis

Frequent (30-79%)HP:0001923

Endopolyploidy on chromosome studies of bone marrow

HP:0003352

Gallstones

HP:0001081

Ineffective erythropoiesis

HP:0010972

Large spleen

HP:0001744

Reduced level of N-acetylglucosaminyltransferase II

HP:0003655

Yellowing of the skin

HP:0000952

Related Conditions

Congenital dyserythropoietic anemia(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 68870007
UMLS CUI: C1306589
Fully Specified Name: Congenital dyserythropoietic anemia, type II (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.