aandoening van collageen en elastisch bindweefsel met betrokkenheid van huid
|
huidhyperlaxiteit van gehele lichaam door vitamine K-afhankelijke stollingsfactordeficiëntie (aandoening)
huidhyperlaxiteit van gehele lichaam door vitamine K-afhankelijke stollingsfactordeficiëntie
PXE-achtig syndroom
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
Due tostollingsfactordeficiëntiesyndroom
Finding sitestructuur van huid
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD68.4
TermVerworven stollingsfactordeficiëntie
TargetL98.7
TermOvermatige en overtollige huid en subcutis
SNOMED CT to Orphanet simple map91135
SNOMED CT to ICD-10 extended map
TargetL98.7
RuleTRUE
AdviceALWAYS L98.7
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD68.4
RuleTRUE
AdviceALWAYS D68.4
CorrelationSNOMED CT source code to target map code correlation not specified