Congenital unguarded mitral orifice
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital unguarded mitral orifice | |
| fr | Anomalie de l'appareil sous-valvulaire mitral | |
| de | Mitralöffnung, unbedeckte, kongenitale | |
| es | Orificio mitral desprotegido congénito | |
| it | Orifizio mitrale pervio congenito | |
| nl | Congenitale onbedekte mitralisopening | |
| pt | Orifício mitral desprotegido, congénito | |
| pl | Wrodzony niestrzeżony przepły mitralny | |
| cs | Vrozené nechráněné mitrální orificium | |
| uk | Вроджена аномалія розвитку мітрального клапана (unguarded mitral orifice): відсутність стулок, хорд та папілярних мязів. | |
| zh | 先天性无保护二尖瓣口 | |
| tr | Doğumsal korumasız mitral orifis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q23.3 | NTBT | attributed | validated |
| ICD-11 | LA87.1Y | NTBT | index | validated |
| MONDO | 0020401 | E | validated | |
| UMLS | C0344769 | 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:95464Congenital mitral valve insufficiency and/or stenosis
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/99060
- This record as JSON: /data/d/99060.json