Ebstein anomaly

Preferred Label : Ebstein anomaly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011).;

Inheritance : Autosomal recessive;

Prefixed ID : 224700;

Details

Origin ID

224700;

UMLS CUI

C0013481;

Automatic exact mappings (from CISMeF team)
- Ebstein anomaly [ACR pathology]
- Ebstein's anomaly of common atrioventricular valve (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ebstein Anomaly [NCIt concept]
- Ebstein anomaly [DO Concept]
- Ebstein anomaly [Disease (Nov.)]
- Ebstein anomaly [Radlex concept]
- Ebstein anomaly of the tricuspid valve [PASCAL descriptor]
- Ebstein anomaly of the tricuspid valve [HPO term]
- Ebstein malformation of the tricuspid valve [ORDO Disease]
- Ebstein malformation of tricuspid valve [ICD-11 Sub-sub category]
- Ebstein's anomaly [ICD-10 Sub-category]
- Ebstein's anomaly [ICD-9 code]
- Ebstein's anomaly [MedDRA Preferred Term]
- Ebstein's anomaly of tricuspid valve (disorder) [SNOMED CT concept]
- Ebsteins anomaly [ICD-10 Sub-category (who)]
- ebstein anomaly [MeSH Descriptor]
- ebstein anomaly [MeSH concept]
- ebstein's anomaly [SNOMED Notion]
DO Cross reference
- Ebstein anomaly [DO Concept]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial septal defect [HPO term]
- Atrial standstill [HPO term]
- Autosomal recessive inheritance [HPO term]
- Ebstein anomaly of the tricuspid valve [HPO term]
- Partial atrially displaced right ventricle [HPO term]
- Right bundle branch block [HPO term]
- Sudden cardiac death [HPO term]
- Ventricular preexcitation [HPO term]
ORDO concept(s)
- Ebstein malformation of the tricuspid valve [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ebstein Anomaly [NCIt concept]
- Ebstein anomaly [Radlex concept]
- Ebstein anomaly [DO Concept]
- Ebstein anomaly [Disease (Nov.)]
- Ebstein anomaly of the tricuspid valve [HPO term]
- Ebstein malformation of the tricuspid valve [ORDO Disease]
- Ebstein malformation of tricuspid valve [ICD-11 Sub-sub category]
- Ebstein's anomaly [MedDRA Preferred Term]
- Ebstein's anomaly [ICD-9 code]
- Ebstein's anomaly [ICD-10 Sub-category]
- Ebstein's anomaly of tricuspid valve (disorder) [SNOMED CT concept]
- Ebsteins anomaly [ICD-10 Sub-category (who)]
- ebstein anomaly [MeSH Descriptor]
- ebstein anomaly [MeSH concept]
- ebstein's anomaly [SNOMED Notion]

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