Congenital supravalvular mitral ring
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital supravalvular mitral ring | |
| fr | Anneau supravalvulaire mitral | |
| de | Supravalvulärer Mitralring, kongenitaler | |
| es | Anillo supravalvular mitral congénito | |
| it | Anello mitrale sopravalvolare congenito | |
| nl | Congenitale supravalvulaire mitralisring | |
| pt | Anel mitral supravalvular congénito | |
| pl | Wrodzony podzastawkowy pierścień zastawki mitralnej | |
| cs | Vrozený supravalvulární mitrální prstenec | |
| uk | Вроджене надклапанне мітральне кільце | |
| zh | 先天性二尖瓣瓣上环 | |
| tr | Doğumsal supravalvüler mitral halka |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q23.2 | NTBT | attributed | validated |
| ICD-11 | LA87.1Y | NTBT | index | validated |
| MONDO | 0020400 | E | validated | |
| UMLS | C0265851 | 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/99059
- This record as JSON: /data/d/99059.json