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hereditaire gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren (aandoening)
hereditaire gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren
erfelijke gecombineerde deficiëntie van factoren II, VII, IX en X en proteïne C, S en Z
erfelijke gecombineerde deficiëntie van vitamine K-afhankelijke stollingsfactoren
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary combined deficiency of factors II, VII, IX and X
A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function.
Id724356003
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD68.2
RuleTRUE
AdviceALWAYS D68.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified