" /> 3-methylglutaconic aciduria type 5 - CISMeF





Preferred Label : 3-methylglutaconic aciduria type 5;

ICD-11 definition : Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.;

ICD-11 synonym : DCMA syndrome; 3-methylglutaconic aciduria with normal 3-methylglutaconic CoA hydratase; DCMA - [Dilated cardiomyopathy with ataxia] syndrome; Dilated cardiomyopathy with ataxia;

Détails


Position du mot-clé dans l'(les) arborescence(s) : arborescence

Vous pouvez consulter :

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.