ORPHA:98044
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Central nervous system malformation | |
| fr | Malformation du système nerveux central | |
| de | ZNS-Fehlbildung | |
| es | Malformación del sistema nervioso central | |
| it | Malformazione del sistema nervoso centrale | |
| nl | Malformatie van centraal zenuwstelsel | |
| pt | Malformação do sistema nervoso central | |
| pl | Wady centralnego układu nerwowego | |
| cs | Malformace centrálního nervového systému | |
| uk | Вади розвитку центральної нервової системи | |
| zh | 中枢神经系统畸形 | |
| tr | Santral sinir sistemi malformasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020022 | E | validated | |
| UMLS | C1839543 | 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:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis - ORPHA:98006Rare neurologic disease
rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:98519OBSOLETE: Posterior fossa malformation referred to · inactive
- ORPHA:108989OBSOLETE: Non-syndromic central nervous system malformation referred to · inactive
- ORPHA:108991OBSOLETE: Syndrome with a central nervous system malformation as a major feature 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/98044
- This record as JSON: /data/d/98044.json