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Mondo Disease Ontology
| Preferred Name | endocardial fibroelastosis | |
| Synonyms |
EFE endomyocardial fibroelastosis Elastomyofibrosis endocardial fibroelastosis |
|
| Definitions |
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. Editor notes: ORDO classifies as both familial and non-familial |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009169 |
|
| comment |
Editor notes: ORDO classifies as both familial and non-familial
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|
| database_cross_reference |
icd11.foundation:1971033419 MESH:D004695 ICD9:425.3 MEDGEN:4041 MedDRA:10014663 NCIT:C98922 GARD:6336 SCTID:65457005 Orphanet:2022 DOID:12929 ICD10CM:I42.4 EFO:0007251 NORD:1090 UMLS:C0014117 NANDO:2100060 NANDO:2200235 OMIM:226000
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|
| definition |
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.
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|
| has_exact_synonym |
Elastomyofibrosis endocardial fibroelastosis
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|
| has_related_synonym |
EFE endomyocardial fibroelastosis
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|
| id |
MONDO:0009169
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
endocardial fibroelastosis
|
|
| notation |
MONDO:0009169
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|
| prefLabel |
endocardial fibroelastosis
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|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/4041 http://purl.obolibrary.org/obo/NCIT_C98922 http://identifiers.org/snomedct/65457005 http://purl.obolibrary.org/obo/EFO_0007251 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 |
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| treeView | ||
| 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 |
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| No notes to display |