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X-gebonden dyserytropoëtische anemie met afwijkende trombocyten en neutropenie (aandoening)
X-gebonden dyserytropoëtische anemie met afwijkende trombocyten en neutropenie
X-gebonden dyserytropoëtische anemie met abnormale bloedplaatjes en neutropenie
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
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.
Id782759001
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
Finding siteerytrocyt
referentieset met complexe 'mapping' naar ICD-10
TargetD64.4
RuleTRUE
AdviceALWAYS D64.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified