loading...| Preferred Name | congenital heart disease | |
| Synonyms |
heart abnormality abnormalities, heart heart-congenital defect defect, congenital heart heart, malformation Of heart abnormalities heart defect, congenital defects, congenital heart Abnormality, heart heart malformation congenital heart defects congenital heart disease congenital heart defect congenital anomaly of heart heart defect CHD |
|
| Definitions |
A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0005207 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0005453 |
|
| database_cross_reference |
NCIT:C95834 SCTID:13213009 MONDO:0005453 MEDGEN:57501 NCIt:C95834 OMIM:106700 SNOMEDCT:13213009 MESH:D006330 UMLS:C0152021 ICD9:746.84 ICD9:746.89 OMIM:615779 DOID:1682 ICD9:746.9 |
|
| definition |
A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels |
|
| gwas_trait |
true |
|
| has_broad_synonym |
heart malformation |
|
| has_exact_synonym |
congenital heart defects congenital heart disease congenital heart defect congenital anomaly of heart heart defect CHD |
|
| has_related_synonym |
heart abnormality abnormalities, heart heart-congenital defect defect, congenital heart heart, malformation Of heart abnormalities heart defect, congenital defects, congenital heart Abnormality, heart |
|
| id |
EFO:0005207 |
|
| in_subset | ||
| label |
congenital heart disease |
|
| notation |
EFO:0005207 |
|
| preferred label |
congenital heart disease |
|
| prefLabel |
congenital heart disease |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0152021 http://identifiers.org/mesh/D006330 http://identifiers.org/snomedct/13213009 http://purl.obolibrary.org/obo/EFO_0005207 http://identifiers.org/medgen/57501 |
|
| term editor |
Dani Welter |
|
| subClassOf |