ORPHA:98992
Early-onset partial cataract
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset partial cataract | |
| fr | Cataracte partielle précoce | |
| de | Katarakt, partielle, früh-beginnende | |
| es | Catarata parcial de inicio precoz | |
| it | Cataratta parziale a esordio precoce | |
| nl | Partieel cataract met vroege aanvang | |
| pt | Catarata parcial de início precoce | |
| pl | Zaćma częściowa o wczesnym początku | |
| cs | Částečná katarakta s časným nástupem | |
| uk | Рання парціальна катаракта | |
| zh | 早发性部分白内障 | |
| tr | Erken başlangıçlı kısmi katarakt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115660 | BTNT | validated | |
| OMIM | 115800 | BTNT | validated | |
| OMIM | 116300 | BTNT | validated | |
| OMIM | 116400 | BTNT | validated | |
| OMIM | 601202 | BTNT | validated | |
| OMIM | 605728 | BTNT | validated | |
| OMIM | 607304 | BTNT | validated | |
| OMIM | 609376 | BTNT | validated | |
| OMIM | 610019 | BTNT | validated | |
| OMIM | 613763 | BTNT | validated | |
| OMIM | 614422 | BTNT | validated | |
| ICD-10 | Q12.0 | NTBT | attributed | validated |
| ICD-11 | LA12.1 | NTBT | index | validated |
| MONDO | 0020377 | E | validated | |
| UMLS | C5681643 | 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 (1):
- ORPHA:91492Early onset non-syndromic cataract
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:217046OBSOLETE: Autosomal recessive childhood-onset cortical cataract referred to · inactive
- ORPHA:306561OBSOLETE: Autosomal dominant childhood-onset cortical cataract 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/98992
- This record as JSON: /data/d/98992.json