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atriodigitale dysplasie van Sloveens type (aandoening)
atriodigitale dysplasie van Sloveens type
hart-handsyndroom van Sloveens type
syndroom van hartgeleidingsziekte, gedilateerde cardiomyopathie en brachydactylie
Heart-hand syndrome Slovenian type
Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome
Atriodigital dysplasia Slovenian type
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
Id721014007
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydilatatie
Finding sitestructuur van myocardium
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