ORPHA:183506
Genetic central nervous system malformation
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic central nervous system malformation | |
| fr | Malformation du système nerveux central d'origine génétique | |
| de | ZNS-Fehlbildung, genetisch bedingte | |
| es | Malformación genética del sistema nervioso central | |
| it | Malformazione del sistema nervoso centrale di origine genetica | |
| nl | Genetische centraal zenuwstelsel-malformatie | |
| pt | Malformação do sistema nervoso central, genético | |
| pl | Wada centralnego układu nerwowego uwarunkowana genetycznie | |
| cs | Geneticky podmíněné malformace centrálního nervového systému | |
| uk | Генетично обумовлена вада розвитку центральної нервової системи | |
| zh | 遗传性中枢神经系统畸形 | |
| tr | Genetik merkezi sinir sistemi malformasyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680566 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases - ORPHA:71859Rare genetic neurological disorder
rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:269550OBSOLETE: Genetic non-syndromic central nervous system malformation referred to · inactive
- ORPHA:269557OBSOLETE: Genetic posterior fossa malformation 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.
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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/183506
- This record as JSON: /data/d/183506.json