Isolated microspherophakia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated microspherophakia | |
| fr | Microsphérophakie isolée | |
| de | Mikrosphärophakie, isolierte | |
| es | Microesferofaquia aislada | |
| it | Microsferofachia isolata | |
| nl | Geïsoleerde microsferofakie | |
| pt | Microesferofaquia isolada | |
| pl | Izolowana soczewka mała i kulista | |
| cs | Izolovaná mikrosférofakie | |
| uk | Ізольована мікросферофакія | |
| zh | 孤立性小球形晶状体 | |
| tr | İzole mikrosferofaki |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q12.4 | E | specific | not yet validated |
| ICD-11 | LA12.3 | E | specific | validated |
| MONDO | 0034977 | E | validated | |
| UMLS | C5681342 | 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:98652Lens size anomaly
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:519394OBSOLETE: Isolated microphakia referred to · inactive
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/519396
- This record as JSON: /data/d/519396.json