ORPHA:519288
Rare disorder with corneal involvement as a major feature
- 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 disorder with corneal involvement as a major feature | |
| fr | Maladie rare avec atteinte cornéenne comme manifestation majeure | |
| de | Seltene Krankheit mit Korneabeteiligung als Hauptmerkmal | |
| es | Trastorno raro con afectación corneal como característica principal | |
| it | Patologia rara con coinvolgimento corneale quale segno maggiore | |
| nl | Zeldzame aandoening met betrokkenheid van cornea als hoofdkenmerk | |
| pt | Doença rara com envolvimento da córnea como característica principal | |
| pl | Rzadka choroba, której objawy obejmują głównie rogówkę | |
| cs | Vzácná porucha s postižením rohovky jako hlavním příznakem | |
| uk | Рідкісний розлад із залученням рогівки як основної ознаки | |
| zh | 以角膜受累为主要特征的罕见疾病 | |
| tr | Esas klinik özelliği kornea tutulumu olan nadir bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681388 | 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:519282Rare corneal disorder
rare ophthalmic disorders
Children (15):
- ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:34533Corneal dystrophy
- ORPHA:1896EEC syndrome
- ORPHA:257Epidermolysis bullosa simplex with muscular dystrophy
- ORPHA:2479Megalocornea-intellectual disability syndrome
- ORPHA:519408Mooren ulcer
- ORPHA:684305Neurooculocardiogenitourinary syndrome
- ORPHA:137672Pellucid marginal degeneration
- ORPHA:519290Rare inflammatory/autoimmune corneal disorder
- ORPHA:79404Severe generalized junctional epidermolysis bullosa
- ORPHA:95455Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- ORPHA:98623Syndromic keratoconus
- ORPHA:519410Terrien marginal degeneration
- ORPHA:28378Tyrosinemia type 2
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/519288
- This record as JSON: /data/d/519288.json