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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Endocardial fibroelastosis | |
| Synonyms |
Endomyocardial fibroelastosis |
|
| Definitions |
A rare cardiac disease characterized by thickening of the endocardium due to deposition of collagen and elastic fibers and leading to dilated cardiomyopathy-like phenotypes more often than to restrictive forms. It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2022 |
|
| alternative_term |
Endomyocardial fibroelastosis
|
|
| definition |
A rare cardiac disease characterized by thickening of the endocardium due to deposition of collagen and elastic fibers and leading to dilated cardiomyopathy-like phenotypes more often than to restrictive forms. It predominantly occurs in infants and children and may be observed as an isolated disorder or in association with congenital heart conditions.
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|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2022 |
|
| has_age_of_onset |
Neonatal
|
|
| has_inheritance |
Unknown
|
|
| hasDbXref |
MedDRA:10014663 ICD-10:I42.4 UMLS:C0014117 OMIM:226000 ICD-11:BC43.3 MeSH:D004695
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|
| label |
Endocardial fibroelastosis
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|
| notation |
ORPHA:2022
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_217629 |
|
| prefixIRI |
ORDO:Orphanet_2022
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|
| prefLabel |
Endocardial fibroelastosis
|
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_217629 |
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| subClassOf |
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