SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/721014007
http://purl.bioontology.org/ontology/SNOMEDCT/721014007
Preferred Name

Heart-hand syndrome Slovenian type

Definitions
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.
Synonyms
Heart-hand syndrome Slovenian type (disorder)
Cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome
Atriodigital dysplasia Slovenian type
Type http://www.w3.org/2002/07/owl#Class
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