Preferred Label : endocardial fibroelastosis;
MeSH definition : A condition characterized by the thickening of ENDOCARDIUM due to proliferation of
fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac
function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children
and rarely in adults. It is often associated with congenital heart anomalies (HEART
DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein,
encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.;
MeSH synonym : endocardial fibroelastoses; fibroelastosis, endocardial; fibroelastoses, endocardial; endomyocardial fibroelastosis;
Origin ID : D004695;
UMLS CUI : C0014117;
Allowable qualifiers
Currated CISMeF NLP mapping
DO Cross reference
HPO term
Record concept(s)
Related MeSH Supplementary Concept(s)
See also (suggested by CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
A condition characterized by the thickening of ENDOCARDIUM due to proliferation of
fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac
function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children
and rarely in adults. It is often associated with congenital heart anomalies (HEART
DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein,
encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2022
2006
true
France
French
endocardial fibroelastosis
scientific and technical information
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