ORPHA:98642
Chromosomal anomaly with cataract
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chromosomal anomaly with cataract | |
| fr | Anomalie chromosomique avec cataracte | |
| de | Katarakt mit assoziierter Chromosomenanomalie | |
| es | Anomalía cromosómica con una posible catarata | |
| it | Cataratta associata a anomalia cromosomica | |
| nl | Chromosomale anomalie met cataract | |
| pt | Anomalia cromossómica com catarata | |
| pl | Aberracja chromosomowa z zaćmą | |
| cs | Chromozomové vady s kataraktou | |
| uk | Хромосомна аномалія з катарактою | |
| zh | 染色体异常伴白内障 | |
| tr | Katarakt ile seyreden kromozomal anomalisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681669 | 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 (2):
- ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
Children (22):
- ORPHA:31458515q overgrowth syndrome
- ORPHA:57421q deletion syndrome
- ORPHA:960953q26 microduplication syndrome
- ORPHA:1590Distal deletion 13q syndrome
- ORPHA:96102Distal duplication 10q syndrome
- ORPHA:96070Distal duplication 2p syndrome
- ORPHA:870Down syndrome
- ORPHA:1587Monosomy 13q14 syndrome
- ORPHA:96168Monosomy 13q34 syndrome
- ORPHA:1598Monosomy 18p syndrome
- ORPHA:1600Monosomy 18q syndrome
- ORPHA:281Monosomy 5p syndrome
- ORPHA:1052Mosaic variegated aneuploidy syndrome
- ORPHA:1695Non-distal duplication 10q syndrome
- ORPHA:3309Tetrasomy 5p syndrome
- ORPHA:3376Triploidy syndrome
- ORPHA:3378Trisomy 13 syndrome
- ORPHA:3380Trisomy 18 syndrome
- ORPHA:1742Trisomy 5p syndrome
- ORPHA:236Trisomy 9p syndrome
- ORPHA:881Turner syndrome
- ORPHA:280Wolf-Hirschhorn syndrome
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/98642
- This record as JSON: /data/d/98642.json