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familiaire trombocytemie (aandoening)
familiaire trombocytemie
familiale trombocytose
erfelijke trombocytemie
Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34).
Id720950009
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Has interpretationboven referentiebereik
InterpretsPlatelet count
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetD75.8
RuleTRUE
AdviceALWAYS D75.8
CorrelationSNOMED CT source code to target map code correlation not specified