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hereditaire congenitale prekallikreïnedeficiëntie (aandoening)
hereditaire congenitale prekallikreïnedeficiëntie
erfelijke aangeboren deficiëntie van Fletcher-factor
Hereditary congenital prekallikrein deficiency
Congenital Fletcher factor deficiency
A rare genetic coagulation disorder characterized by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.
Id1162804003
StatusDefined
Occurrencecongenitaal
Has interpretationafwijkend
Interpretshemostase
SNOMED CT to Orphanet simple map749
SNOMED CT to ICD-10 extended map
TargetD68.8
RuleTRUE
AdviceALWAYS D68.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified