ORPHA:519292
Syndromic ectopia lentis
- 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 | Syndromic ectopia lentis | |
| fr | Ectopie du cristallin syndromique | |
| de | Syndromale Ectopia lentis | |
| es | Ectopia lentis sindrómica | |
| it | Ectopia lentis sindromica | |
| nl | Syndromale ectopia lentis | |
| pt | Ectopia da lente sindromática | |
| pl | Zespół podwichnięcia soczewki | |
| cs | Syndromová ektopie čočky | |
| uk | Синдромальна ектопія кришталика | |
| zh | 综合征性晶体异位 | |
| tr | Sendromik ektopia lentis |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681372 | 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:98653Lens position anomaly
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
Children (14):
- ORPHA:1068Aniridia-intellectual disability syndrome
- ORPHA:1259Blepharoptosis-myopia-ectopia lentis syndrome
- ORPHA:171844Blindness-scoliosis-arachnodactyly syndrome
- ORPHA:833Encephalopathy due to sulfite oxidase deficiency
- ORPHA:2325Epidermolysis bullosa simplex with anodontia/hypodontia
- ORPHA:412022Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
- ORPHA:2092Focal dermal hypoplasia
- ORPHA:2084Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
- ORPHA:394Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:558Marfan syndrome
- ORPHA:560Marshall syndrome
- ORPHA:231736Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
- ORPHA:2551Microspherophakia-metaphyseal dysplasia syndrome
- ORPHA:3449Weill-Marchesani syndrome
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/519292
- This record as JSON: /data/d/519292.json