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familiair bloedplaatjessyndroom met predispositie voor acute myelogene leukemie (aandoening)
familiair bloedplaatjessyndroom met predispositie voor acute myelogene leukemie
familiaire bloedplaatjesstoornis met geassocieerde myeloïde maligniteit
familiair bloedplaatjessyndroom met predispositie voor acute myeloïde leukemie
familiair bloedplaatjessyndroom met predispositie voor AML
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial platelet disorder with associated myeloid malignancy
Disease that is characterized by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait.
Id725034002
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
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