Isolated congenital auditory ossicle malformation
Synonyms: Congenital auditory ossicle malformation without external ear abnormality
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital auditory ossicle malformation | Congenital auditory ossicle malformation without external ear abnormality |
| fr | Malformation congénitale isolée de la chaîne ossiculaire | Malformation ossiculaire sans anomalie du canal auditif externe |
| de | Fehlbildung der Gehörknöchelchen, kongenitale, isolierte | |
| es | Malformación congénita aislada de los osículos auditivos | Malformación congénita de los osículos auditivos sin anomalías del oído externo |
| it | Malformazione congenita isolata degli ossicini dell'orecchio | Malformazione congenita degli ossicini dell'orecchio medio senza anomalie dell'orecchio esterno |
| nl | Geïsoleerde congenitale gehoorbeentjesmalformatie | Congenitale gehoorbeentjemalformatie zonder externe oorafwijking |
| pt | Malformação auditiva ossicular congénita, isolada | |
| pl | Izolowana wrodzona malformacja kosteczek słuchowych | Wrodzona malformacja kosteczek słuchowych bez nieprawidłowości ucha zewnętrznego |
| cs | Izolovaná vrozená vada ušních kůstek | Vrozené vady ušních kůstek bez abnormalit vnějšího ucha |
| uk | Ізольована вроджена вада слухової кісточки | Вроджена вада слухової кісточки без аномалії зовнішнього вуха |
| zh | 孤立性先天性听骨畸形 | 先天性听小骨畸形不伴外耳畸形 |
| tr | İzole doğumsal işitsel kemikçik malformasyonu | Eksternal kulak anormalliği iile seyretmeyen doğumsal işitsel kemikçik malformasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q16.3 | E | specific | validated |
| ICD-11 | LA22.3 | E | specific | validated |
| MONDO | 0015570 | E | validated | |
| UMLS | C0158587 | E | validated | |
| MedDRA | 10010341 | 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/162526
- This record as JSON: /data/d/162526.json