loading...| Preferred Name |
Inherited arrhythmogenic cardiomyopathy |
|
| Synonyms |
Arrhythmogenic right ventricular cardiomyopathy |
|
| Definitions |
A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_247 |
|
| alternative_term |
Arrhythmogenic right ventricular cardiomyopathy |
|
| definition |
A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=247 |
|
| has_age_of_onset |
Adolescent Adult |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
UMLS:C0349788 MedDRA:10058093 ICD-11:BC43.6 MeSH:D019571 |
|
| label |
Inherited arrhythmogenic cardiomyopathy |
|
| notation |
Clinical group ORPHA:247 |
|
| prefixIRI |
ORDO:Orphanet_247 |
|
| prefLabel |
Inherited arrhythmogenic cardiomyopathy |
|
| present_in |
Italy AND has_point_prevalence_average_value : 43.5 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_506225 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_247 | EFO | SAME_URI |