Inherited platelet disorder
Thrombocytosis
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Familial thrombocytosis (disorder)
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).
familiaire trombocytemie
familiale trombocytose
erfelijke trombocytemie
Id720950009
StatusPrimitive
Finding siteBody system structure
Has interpretationAbove reference range
InterpretsPlatelet count
Has interpretationAbnormal
InterpretsHemostatic function
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD75.8
RuleTRUE
AdviceALWAYS D75.8
CorrelationSNOMED CT source code to target map code correlation not specified