Coloboma of inferior eyelid
Synonyms: Inferior palpebral coloboma
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma of inferior eyelid | Inferior palpebral coloboma |
| fr | Colobome de la paupière inférieure | Colobome palpébral inférieur |
| de | Kolobom des Unterlides | Lidkolobom, inferior |
| es | Coloboma del párpado inferior | Coloboma palpebral inferior |
| it | Coloboma della palpebra inferiore | Coloboma palpebrale inferiore |
| nl | Coloboom van onderste ooglid | Inferieur palpebraal coloboom |
| pt | Coloboma da pálpebra inferior | |
| pl | Szczelina dolnej powieki | Szczelina dolnej powieki |
| cs | Kolobom dolního očního víčka | Dolní palpebrální kolobom · Coloboma palpebrae inferior |
| uk | Колобома нижньої повіки | Нижня пальпебральна колобома |
| zh | 下眼睑缺损 | 下睑缺损 |
| tr | Alt göz kapağı koloboması | İnferior palpebral kolobom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| MONDO | 0015481 | E | validated | |
| UMLS | C1837826 | 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/155889
- This record as JSON: /data/d/155889.json