Congenital oculomotor nerve palsy
Synonyms: Congenital CNIII lesion · Congenital third cranial nerve palsy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital oculomotor nerve palsy | Congenital CNIII lesion · Congenital third cranial nerve palsy |
| fr | Paralysie congénitale du nerf oculomoteur | Lésion CNIII congénitale · Paralysie congénitale du troisième nerf crânien |
| de | Okulomotoriusparese, kongenitale | Hirnnerv III-Lähmung, kongenitale · Hirnnerv III-Läsion, kongenitale · Kongenitale Lähmung des Nervus oculomotorius |
| es | Parálisis congénita del nervio oculomotor | Lesión congénita CNIII · Parálisis congénita benigna del tercer par craneal |
| it | Paralisi congenita del nervo oculomotore | Lesione congenita del CNIII · Paralisi congenita del terzo nervo cranico |
| nl | Congenitale paralyse van nervus oculomotorius | Congenitale CNIII-laesie · Congenitale verlamming van derde hersenzenuw |
| pt | Paralisia congénita do nervo oculomotor | |
| pl | Wrodzone porażenie nerwu okoruchowego | Wrodzone porażenie trzeciego nerwu czaszkowego · Wrodzone uszkodzenie CNIII |
| cs | Vrozená paréza nervus oculomotorius | Vrozená léze n.III · Vrozená paréza třetího kraniálního nervu |
| uk | Вроджений параліч окорухового нерва | Вроджене ураження СНІІІ · Вроджений параліч третього черепно-мозкового нерва |
| zh | 先天性动眼神经麻痹 | 先天性第三颅神经麻痹 |
| tr | Doğumsal okülomotor sinir felci | Doğumsal CNIII lezyon · Doğumsal üçüncü kraniyal sinir felci |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| ICD-11 | 9C81.0Y | NTBT | index | validated |
| MONDO | 0018599 | E | validated | |
| UMLS | C5680054 | 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:98685Rare oculomotor nerve disorder
rare genetic diseases; rare ophthalmic disorders
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/440221
- This record as JSON: /data/d/440221.json