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syndroom van craniosynostose en aplasie van fibula (aandoening)
syndroom van craniosynostose en aplasie van fibula
syndroom van Lowry
Craniosynostosis fibular aplasia syndrome
Lowry syndrome
An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972.
Id732250002
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele fibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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