Preferred Label : tabatznik syndrome;
Définition CISMeF : Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two
families to date, that is characterized by upper limb malformations (brachytelephalangy
type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals
in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar
bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).;
MeSH synonym : heart-hand syndrome 2;
Origin ID : C536784;
UMLS CUI : C2931323;
CISMeF manual mappings
- Currated CISMeF NLP mapping
- MeSH term(s) associated for indexing
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two
families to date, that is characterized by upper limb malformations (brachytelephalangy
type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals
in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar
bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1350
France
French
hand deformities, congenital
heart defects, congenital
tabatznik syndrome
scientific and technical information
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