Isolated blepharochalasis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated blepharochalasis | |
| fr | Blépharochalasis isolé | |
| de | Blepharochalasis, isolierte | |
| es | Blefarocalasia aislada | |
| it | Blefarocalasi isolata | |
| nl | Geïsoleerde blefarochalase | |
| pt | Blefarocalásia isolada | |
| pl | Izolowana blefarochalazja | |
| cs | Izolovaná blefarochaláza | |
| uk | Ізольований блефарохалязіс | |
| zh | 孤立性眼睑皮肤松弛症 | |
| tr | İzole blefaroşalazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H02.3 | E | specific | validated |
| ICD-11 | 9A06.8 | E | specific | validated |
| MONDO | 0033809 | E | validated | |
| UMLS | C5681341 | 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:98567Rare eyelid malposition disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
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/519390
- This record as JSON: /data/d/519390.json