Conotruncal heart malformations
- Type
- Category
- Group
- Group of disorders
- Status
- active
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Conotruncal heart malformations | |
| fr | Malformation cardiaque conotroncale | |
| de | Herzfehler, konotrunkaler | |
| es | Malformaciones cardíacas conotruncales | |
| it | Cardiopatie troncoconali | |
| nl | Conotruncale hartmalformaties | |
| pt | Malformações cardíacas cono-truncais | |
| pl | Wady stożka i pnia naczyniowego | |
| cs | Konotrunkální srdeční malformace | |
| uk | Конотрункальні вади серця | |
| zh | 圆锥动脉干心脏畸形 | |
| tr | Konotrunkal kalp malformasyonları |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217095 | E | validated | |
| MONDO | 0016581 | E | validated | |
| MONDO | 16581 | E | validated | |
| MeSH | C535464 | E | validated | |
| UMLS | C1857586 | E | validated | |
| GARD | 8189 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98717Transposition of the great arteries and conotruncal cardiac anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations
Children (8):
- ORPHA:1138Abnormal origin of the pulmonary artery
- ORPHA:3384Common arterial trunk
- ORPHA:2037Congenital aortopulmonary window
- ORPHA:3427Double outlet left ventricle
- ORPHA:3426Double outlet right ventricle
- ORPHA:1207Pulmonary atresia with ventricular septal defect
- ORPHA:982Pulmonary valve agenesis
- ORPHA:3303Tetralogy of Fallot
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2445
- This record as JSON: /data/d/2445.json