Coloboma of superior eyelid
Synonyms: Superior palpebral coloboma
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma of superior eyelid | Superior palpebral coloboma |
| fr | Colobome de la paupière supérieure | Colobome palpébral supérieur |
| de | Kolobom des Oberlides | Lidkolobom, superior |
| es | Coloboma del párpado superior | Coloboma palpebral superior |
| it | Coloboma della palpebra superiore | Coloboma palpebrale superiore |
| nl | Coloboom van bovenste ooglid | Superieur palpebraal coloboom |
| pt | Coloboma da pálpebra superior | |
| pl | Szczelina górnej powieki | Szczelina górnej powieki |
| cs | Kolobom horního víčka | Coloboma palpebrae superior |
| uk | Колобома верхньої повіки | Верхня пальпебральна колобома |
| zh | 上眼睑缺损 | 上眼睑缺损 |
| tr | Üst göz kapağının koloboması | Süperior palpebral kolobom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| MONDO | 0015480 | E | validated | |
| UMLS | C1863872 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:141253Oblique facial cleft
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/155884
- This record as JSON: /data/d/155884.json