Congenital complete agenesis of pericardium
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital complete agenesis of pericardium | |
| fr | Anomalie congénitale complète du péricarde | |
| de | Perikardagenesie, kongenitale, komplette | |
| es | Agenesia completa de pericardio congénita | |
| it | Agenesia completa congenita del pericardio | |
| nl | Congenitale volledige agenesie van pericard | |
| pt | Agenesia completa do pericárdio, congénita | |
| pl | Wrodzona całkowita agnezaja osierdzia | |
| cs | Vrozená kompletní ageneze perikardu | |
| uk | Вроджена повна агенезія перикарда | |
| zh | 先天性心包完全发育不全 | |
| tr | Perikardın doğumsal tam agenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q24.8 | NTBT | attributed | validated |
| ICD-11 | LA8D | NTBT | index | validated |
| MONDO | 0020454 | E | validated | |
| UMLS | C0345140 | 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:2846Congenital pericardium anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
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/99129
- This record as JSON: /data/d/99129.json