autosomaal dominante macrotrombocytopenie (aandoening)
autosomaal dominante macrotrombocytopenie
autosomaal dominante macrotrombopenie
Autosomal dominant macrothrombocytopenia
This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant.
Has interpretationonder referentiebereik
InterpretsPlatelet count
Has interpretationafwijkend
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige primaire trombocytopenie
SNOMED CT to Orphanet simple map140957
SNOMED CT to ICD-10 extended map
AdviceALWAYS D69.4
CorrelationSNOMED CT source code to target map code correlation not specified