ORPHA:98574
Syndromic epicanthus
- 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 epicanthus | |
| fr | Epicanthus syndromique | |
| de | Epikanthus, syndromaler | |
| es | Epicanto sindrómico | |
| it | Epicanto sindromico | |
| nl | Syndromale epicanthus | |
| pt | Epicanto sindromático | |
| pl | Syndromiczna zmarszczka nakątna | |
| cs | Syndromy s epikanty | |
| uk | Синдромний епікантус | |
| zh | 内眦赘皮综合征 | |
| tr | Sendromik epikantus |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681653 | 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:98567Rare eyelid malposition disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522528Rare genetic eyelid malposition disorder
rare genetic diseases
Children (9):
- ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:1705Distal duplication 14q syndrome
- ORPHA:870Down syndrome
- ORPHA:559Marinesco-Sjögren syndrome
- ORPHA:1587Monosomy 13q14 syndrome
- ORPHA:281Monosomy 5p syndrome
- ORPHA:818Smith-Lemli-Opitz syndrome
- ORPHA:881Turner syndrome
- ORPHA:904Williams syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:98573OBSOLETE: Epicanthal fold 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/98574
- This record as JSON: /data/d/98574.json