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Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder)
Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency
PXE (pseudoxanthoma elasticum) like syndrome
Pseudoxanthoma elasticum-like syndrome
This syndrome has characteristics of hyperlaxity of the skin involving the entire body. It has been described in six patients. The phenotype is linked to a deficiency in vitamin K-dependent clotting factors and the syndrome has been associated with mutations in the GGCX gene. This gene encodes gamma-glutamyl carboxylase, an enzyme that has already been implicated in congenital vitamin K-dependent clotting factor deficiencies. This syndrome should be distinguished from pseudoxanthoma elasticum and cutis laxa in which the excessive skin folding is limited to specific zones.
Id717941005
StatusPrimitive
Finding sitestructuur van huid
referentieset met complexe 'mapping' naar ICD-10
TargetD68.4
RuleTRUE
AdviceALWAYS D68.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetL98.7
RuleTRUE
AdviceALWAYS L98.7
CorrelationSNOMED CT source code to target map code correlation not specified