SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/782759001
http://purl.bioontology.org/ontology/SNOMEDCT/782759001
Preferred Name

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

Definitions
A rare genetic constitutional dyserythropoietic anaemia disorder characterised by moderate to severe anaemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11. A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11.
Synonyms
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
Type http://www.w3.org/2002/07/owl#Class
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