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Heart-hand syndrome Slovenian type (disorder)
Heart-hand syndrome Slovenian type
Atriodigital dysplasia Slovenian type
Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome
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.
atriodigitale dysplasie van Sloveens type
hart-handsyndroom van Sloveens type
syndroom van hartgeleidingsziekte, gedilateerde cardiomyopathie en brachydactylie
Id721014007
StatusPrimitive
Associated morphologyDilatation
Finding siteMyocardium structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally short growth
Finding siteEntire digit
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure of extremity
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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