ORPHA:166469
Chromosomal anomaly with epilepsy as a major feature
- 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 epilepsy as a major feature | |
| fr | Anomalie chromosomique avec épilepsie comme manifestation majeure | |
| de | Chromosomenanomalie mit Epilepsie als Hauptmerkmal | |
| es | Anomalía cromosómica con epilepsia como rasgo mayor | |
| it | Anomalia cromosomica con epilessia come segno principale | |
| nl | Chromosomale anomalie met epilepsie als hoofdkenmerk | |
| pt | Anomalia cromossómica com epilepsia como característica principal | |
| pl | Anomalia chromosomalna z padaczką jako głównym objawem | |
| cs | Chromozomální aberace s epilepsií jako hlavním příznakem | |
| uk | Хромосомна аномалія з епілепсією як основною ознакою | |
| zh | 以癫痫为主要特征的染色体异常 | |
| tr | Esas klinik özelliği epilepsi olan kromozom anomalisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15652 | E | validated | |
| UMLS | C5680428 | 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:101998Rare epilepsy
rare neurological diseases - ORPHA:183512Rare genetic epilepsy
rare genetic diseases
Children (16):
- ORPHA:19931815q13.3 microdeletion syndrome
- ORPHA:16061p36 deletion syndrome
- ORPHA:2284022q23.1 microdeletion syndrome
- ORPHA:2283845q14.3 microdeletion syndrome
- ORPHA:4958189q33.3q34.11 microdeletion syndrome
- ORPHA:72Angelman syndrome
- ORPHA:908Fragile X syndrome
- ORPHA:3306Inverted duplicated chromosome 15 syndrome
- ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion
- ORPHA:217377Microduplication Xp11.22p11.23 syndrome
- ORPHA:531Miller-Dieker syndrome
- ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22
- ORPHA:884Pallister-Killian syndrome
- ORPHA:1440Ring chromosome 14 syndrome
- ORPHA:1444Ring chromosome 20 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/166469
- This record as JSON: /data/d/166469.json