Cochleovestibular malformation
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare otorhinolaryngological malformation characterized by varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cochleovestibular malformation | |
| fr | Malformation cochléovestibulaire | |
| de | Dysplasie, kochleovestibuläre | |
| es | Displasia cocleovestibular | |
| it | Malformazione cocleo-vestibolare | |
| nl | Cochleovestibulaire malformatie | |
| pt | Malformação cocleovestibular | |
| pl | Dysplazja ślimakowo-przedsionkowa | Malformacja ślimaka i przedsionka |
| cs | Kochleovestibulární malformace | |
| uk | Кохлеовестибулярна вада | |
| zh | 耳蜗前庭发育不良 | |
| tr | Kokleovestibular displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q16.5 | NTBT | attributed | validated |
| ICD-11 | LA22.4 | NTBT | index | validated |
| MONDO | 0044709 | E | validated | |
| MONDO | 44709 | E | validated | |
| UMLS | C5761642 | 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:164004Middle and/or inner ear anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
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/502305
- This record as JSON: /data/d/502305.json