ORPHA:522572
Rare genetic retinal disorder
- 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 | Rare genetic retinal disorder | |
| fr | Maladie génétique rétinienne rare | |
| de | Seltene genetische Krankheit der Retina | |
| es | Trastorno retiniano genético raro | |
| it | Patologia genetica rara retinica | |
| nl | Zeldzame genetische aandoening van retina | Zeldzame genetische aandoening van netvlies |
| pt | Doença retiniana genética rara | |
| pl | Rzadka choroba siatkówki uwarunkowana genetycznie | |
| cs | Vzácná genetická porucha sítnice | |
| uk | Рідкісне генетично обумовлене захворювання сітківки | |
| zh | 罕见遗传性视网膜疾病 | |
| tr | Nadir genetik retina bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681407 | 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:522570Rare genetic disorder of the posterior segment of the eye
rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:71862OBSOLETE: Inherited retinal disorder referred to · inactive
- ORPHA:98662OBSOLETE: Unclassified familial retinal dystrophy referred to · inactive
- ORPHA:98664OBSOLETE: Genetic macular dystrophy referred to · inactive
- ORPHA:98665OBSOLETE: Colobomatous and areolar dystrophy referred to · inactive
- ORPHA:98666OBSOLETE: Unclassified primitive or secondary maculopathy referred to · inactive
- ORPHA:227786OBSOLETE: Familial flecked retinopathy referred to · inactive
- ORPHA:519306OBSOLETE: Isolated progressive inherited retinal disorder referred to · inactive
- ORPHA:519319OBSOLETE: Isolated stationary inherited retinal disorder referred to · inactive
- ORPHA:519325OBSOLETE: Syndromic inherited retinal disorder referred to · inactive
- ORPHA:520817OBSOLETE: Isolated inherited retinal disorder referred to · inactive
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522572
- This record as JSON: /data/d/522572.json