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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Endocardial Fibroelastosis [Disease/Finding] | |
| Synonyms |
Endomyocardial Fibroelastosis Endocardial Fibroelastosis |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001095 |
|
| altLabel |
Endomyocardial Fibroelastosis Endocardial Fibroelastosis
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|
| cui |
C0014117
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| MESH DEFINITION |
A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.
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| MESH DUI |
D004695
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|
| MeSH name |
Endocardial Fibroelastosis
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|
| MESH UI |
M0007391
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|
| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000001095
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|
| NUI |
N0000001095
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|
| prefLabel |
Endocardial Fibroelastosis [Disease/Finding]
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| SNOMED CID |
65457005
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|
| tui |
T047
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| subClassOf |
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