ORPHA:166478
Cerebral malformation with epilepsy
- 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 | Cerebral malformation with epilepsy | |
| fr | Malformations cérébrales associées à une épilepsie | |
| de | Zerebrale Fehlbildung mit Epilepsie | |
| es | Malformación cerebral con epilepsia | |
| it | Malformazione cerebrale con epilessia | |
| nl | Cerebrale malformatie met epilepsie | |
| pt | Malformação cerebral com epilepsia | |
| pl | Malformacja mózgu z padaczką | |
| cs | Malformace mozku s epilepsií | Malformace CNS s epilepsií |
| uk | Церебральна мальформація з епілепсією | |
| zh | 脑畸形伴癫痫 | |
| tr | Epilepsi ile seyreden serebral malformasyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15655 | E | validated | |
| UMLS | C5680429 | 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 (18):
- ORPHA:50Aicardi syndrome
- ORPHA:85278Christianson syndrome
- ORPHA:404437Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- ORPHA:352587Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
- ORPHA:86906Gelastic seizures with hypothalamic hamartoma
- ORPHA:99802Hemimegalencephaly
- ORPHA:2162Holoprosencephaly
- ORPHA:48471Lissencephaly
- ORPHA:50810Microlissencephaly-micromelia syndrome
- ORPHA:163209Non-syndromic cerebral malformation due to abnormal neuronal migration
- ORPHA:1647Oculocerebrocutaneous syndrome
- ORPHA:401959Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- ORPHA:250972Polymicrogyria with optic nerve hypoplasia
- ORPHA:98523Pontocerebellar hypoplasia
- ORPHA:2940Porencephaly
- ORPHA:306558Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- ORPHA:799Schizencephaly
- ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166478
- This record as JSON: /data/d/166478.json