Genetic Syndrome Associated with Congenital Heart Defect

Preferred Label : Genetic Syndrome Associated with Congenital Heart Defect;

NCIt related terms : Syndrome;

NCIt definition : Genetic anomalies and collections of malformations that are known to cluster together that can be associated with congenital heart defects. (ACC/AHA);

Alternative definition : ACC/AHA: Genetic anomalies and collections of malformations that are known to cluster together that can be associated with congenital heart defects.;

Details

Origin ID

C168217;

UMLS CUI

C5238705;

Automatic exact mappings (from CISMeF team)
- Antisynthetase syndrome [ORDO Disease]
- Disease (disorder) [SNOMED CT concept]
- Trichohepatoenteric syndrome 1 [OMIM Phenotype]
- syndrome [DO Concept]
- syndrome [MeSH concept]
- syndrome [MeSH Descriptor]
- syndromic [Radlex concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Syndromic diarrhea [ORDO Disease]
- Trichohepatoenteric syndrome (disorder) [SNOMED CT concept]
- trichohepatoenteric syndrome [DO Concept]
- trichohepatoenteric syndrome [MeSH Supplementary Concept]
- trichohepatoenteric syndrome [MeSH concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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