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X-gebonden congenitale dyserytropo√ętische anemie met trombocytopenie (aandoening)
X-gebonden congenitale dyserytropo√ętische anemie met trombocytopenie
X-linked congenital dyserythropoietic anemia with thrombocytopenia
A rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders.
Id722475006
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD69.4
TermOverige primaire trombocytopenie
SNOMED CT to Orphanet simple map67044
SNOMED CT to ICD-10 extended map
TargetD69.4
RuleTRUE
AdviceALWAYS D69.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified