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syndroom van bètathalassemie X-gebonden trombocytopenie (aandoening)
syndroom van bètathalassemie X-gebonden trombocytopenie
XLTT
bètathalassemie-X-gebonden trombocytopenie-syndroom
Beta thalassemia X-linked thrombocytopenia syndrome
A form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked.
Id718196002
StatusPrimitive
Finding siteerytrocyt
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD56.1
TermBèta-thalassemie
SNOMED CT to Orphanet simple map231393
SNOMED CT to ICD-10 extended map
TargetD56.1
RuleTRUE
AdviceALWAYS D56.1
CorrelationSNOMED CT source code to target map code correlation not specified