ORPHA:98628
Syndromic corneal dystrophy
- 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 corneal dystrophy | |
| fr | Dystrophie cornéenne syndromique | |
| de | Hornhautdystrophie, syndromale | |
| es | Distrofia sindrómica de la córnea | |
| it | Distrofia corneale sindromica | |
| nl | Syndromale corneadystrofie | |
| pt | Distrofia sindromática da córnea | |
| pl | Syndromiczna dystrofia rogówki | |
| cs | Syndromy s dystrofií rohovky | |
| uk | Синдромальна дистрофія рогівки | |
| zh | 综合征型角膜营养不良 | |
| tr | Sendromik kornea distrofisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681673 | 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 (2):
- ORPHA:34533Corneal dystrophy
rare ophthalmic disorders - ORPHA:522560Genetic corneal dystrophy
rare genetic diseases
Children (18):
- ORPHA:85448AGel amyloidosis
- ORPHA:90354Brittle cornea syndrome
- ORPHA:495875Cerebello-oculo-facio-genital syndrome
- ORPHA:1490Corneal dystrophy-perceptive deafness syndrome
- ORPHA:3194Corneodermatoosseous syndrome
- ORPHA:2962De Barsy syndrome
- ORPHA:79149Dermochondrocorneal dystrophy
- ORPHA:650LCAT deficiency
- ORPHA:2557Mietens syndrome
- ORPHA:411641Ocular cystinosis
- ORPHA:2709Oculodental syndrome, Rutherfurd type
- ORPHA:2741Ophthalmomandibulomelic dysplasia
- ORPHA:461Recessive X-linked ichthyosis
- ORPHA:2572Spastic ataxia-corneal dystrophy syndrome
- ORPHA:3177Spinocerebellar degeneration-corneal dystrophy syndrome
- ORPHA:589435Spondylometaphyseal dysplasia-corneal dystrophy syndrome
- ORPHA:1661X-linked corneal dermoid
- ORPHA:85453X-linked reticulate pigmentary disorder
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/98628
- This record as JSON: /data/d/98628.json