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congenitale amegakaryocytaire trombocytopenie (aandoening)
congenitale amegakaryocytaire trombocytopenie
aangeboren amegakaryocytaire trombopenie
Congenital amegakaryocytic thrombocytopenia
A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive.
Id716336002
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Occurrencecongenitaal
Has interpretationonder referentiebereik
InterpretsPlatelet count
referentieset met complexe 'mapping' naar ICD-10
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0
CorrelationSNOMED CT source code to target map code correlation not specified