Cochlear nerve deficiency
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cochlear nerve deficiency | |
| fr | Dysplasie du nerf cochléaire | |
| de | Hypo-/Aplasie des Nervus cochlearis | Defizienz des Hörnerven |
| es | Deficiencia del nervio coclear | |
| it | Deficit del nervo cocleare | |
| nl | Deficiëntie van nervus cochlearis | |
| pt | Deficiência do nervo coclear | |
| pl | Niedorozwój nerwu ślimakowego | |
| cs | Deficit kochleárního nervu | |
| uk | Недостатність кохлеарного нерва | |
| zh | 耳蜗神经缺损 | |
| tr | Koklear sinir eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H93.3 | NTBT | attributed | validated |
| ICD-11 | AB72.Y | NTBT | attributed | validated |
| MONDO | 0034733 | E | validated | |
| UMLS | C5568535 | 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/502318
- This record as JSON: /data/d/502318.json