heart-hand syndrome, slovenian type

Preferred Label : heart-hand syndrome, slovenian type;

Définition CISMeF : Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by 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.;

Details

Origin ID

C535852;

UMLS CUI

C1857829;

CISMeF manual mappings
- Heart-hand syndrome Slovenian type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Heart-hand syndrome, Slovenian type [ICD-11 More detail]
- Heart-hand syndrome, Slovenian type [ORDO Disease]
- Heart-hand syndrome, slovenian type [OMIM Phenotype]
MeSH term(s) associated for indexing
- Laminopathies [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
ORDO relation(s)
- Heart-hand syndrome, Slovenian type [ORDO Disease]
Record concept(s)
- Heart-hand syndrome, Slovenian type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heart-hand syndrome Slovenian type (disorder) [SNOMED CT concept]
- Heart-hand syndrome, Slovenian type [ORDO Disease]
- Heart-hand syndrome, slovenian type [OMIM Phenotype]

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