ORPHA:183616
Genetic neuro-ophthalmological disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic neuro-ophthalmological disease | |
| fr | Maladie neuro-ophtalmologique génétique | |
| de | Neuro-ophthalmologische Krankheit, genetisch bedingte | |
| es | Enfermedad neuro-oftalmológica de origen genético | |
| it | Malattia genetica neuro-oftalmologica | |
| nl | Genetische neuro-oftalmologische ziekte | |
| pt | Doença neuro-oftalmológica genética | |
| pl | Genetyczna choroba neuro-oftalmologiczna | |
| cs | Geneticky podmíněná neuro-oftalmologická onemocnění | |
| uk | Генетично обумовлене нейроофтальмологічне захворювання | |
| zh | 遗传性神经-眼疾病 | |
| tr | Genetik nöro-oftalmolojik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680540 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:522504Rare genetic disorder of the visual organs
rare genetic diseases
Children (4):
- ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
- ORPHA:522516Rare genetic ocular motility/alignment disorder
- ORPHA:522508Rare genetic ophthalmic disorder with cortical involvement
- ORPHA:522510Rare genetic ophthalmic disorder with cranial nerve involvement
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/183616
- This record as JSON: /data/d/183616.json