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trombocytose met defect van distale extremiteit (aandoening)
trombocytose met defect van distale extremiteit
Thrombocythemia with distal limb defect
Hereditary thrombocytosis with transverse limb defect
Familial thrombocytosis with transverse limb defect
A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Id771511005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyvergroting
Finding sitegehele milt
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
InterpretsPlatelet count
Has interpretationafwijkend
Interpretshemostase
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified