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Experimental Factor Ontology
| Preferred Name | endocardial fibroelastosis | |
| Synonyms |
endomyocardial fibroelastosis EFE endocardial fibroelastosis Elastomyofibrosis Endocardial Fibroelastosis |
|
| Definitions |
An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0007251 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10014663 MEDGEN:4041 MONDO:0009169 SCTID:65457005 NANDO:2200235 icd11.foundation:1971033419 NCIT:C98922 UMLS:C0014117 OMIM:226000 ICD10CM:I42.4 MESH:D004695 NANDO:2100060 Orphanet:2022 MeSH:D004695 DOID:12929 GARD:6336 ICD9:425.3 NORD:1090
|
|
| definition |
An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.
|
|
| exactMatch |
http://identifiers.org/medgen/4041 http://purl.obolibrary.org/obo/NCIT_C98922 http://www.orpha.net/ORDO/Orphanet_2022 http://identifiers.org/snomedct/65457005 http://purl.obolibrary.org/obo/DOID_12929 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1971033419 http://identifiers.org/mesh/D004695 http://purl.bioontology.org/ontology/ICD10CM/I42.4 |
|
| has_exact_synonym |
endocardial fibroelastosis Elastomyofibrosis Endocardial Fibroelastosis
|
|
| has_related_synonym |
endomyocardial fibroelastosis EFE
|
|
| id |
EFO:0007251
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
endocardial fibroelastosis
|
|
| notation |
EFO:0007251
|
|
| preferred label |
endocardial fibroelastosis
|
|
| prefLabel |
endocardial fibroelastosis
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis |
|
| term editor |
Sirarat Sarntivijai
|
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016345 http://purl.obolibrary.org/obo/MONDO_0016338 |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |