ORPHA:99058
Hypoplasia of the mitral valve annulus
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoplasia of the mitral valve annulus | |
| fr | Hypoplasie de l'anneau mitral | |
| de | Mitralklappenanulus, Hypoplasie des- | |
| es | Hipoplasia del anillo de la válvula mitral | |
| it | Ipoplasia dell'anello della valvola mitrale | |
| nl | Hypoplasie van annulus van mitralisklep | |
| pt | Hipoplasia do anel da válvula mitral | |
| pl | Hipoplazja pierścienia zastawki mitralnej | |
| cs | Hypoplázie anulu mitrální chlopně | |
| uk | Гіпоплазія кільця мітрального клапана | |
| zh | 二尖瓣环发育不全 | |
| tr | Mitral kapak halkasının hipoplazisi |
Definition in:
2
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 | 0020399 | E | validated | |
| UMLS | C3165203 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99058
- This record as JSON: /data/d/99058.json