ORPHA:269224
Global cerebellar malformation
Synonyms: Diffuse cerebellar 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 | Global cerebellar malformation | Diffuse cerebellar malformation |
| fr | Malformation cérébelleuse globale | Malformation cérébelleuse diffuse |
| de | Zerebelläre Fehlbildung, globale | Zerebelläre Fehlbildung, diffuse |
| es | Malformación global del cerebelo | Malformación difusa del cerebelo |
| it | Malformazione cerebellare globale | Malformazione cerebellare diffusa |
| nl | Algemene cerebellaire malformatie | Diffuse cerebellaire malformatie |
| pt | Malformação cerebelosa global | Malformação cerebelosa difusa |
| pl | Całkowita malformacja móżdżku | Rozlana malformacja móżdżku |
| cs | Globální malformace mozečku | Difuzní cerebelární malformace |
| uk | Глобальна вада розвитку мозочка | Дифузна мальформація мозочка |
| zh | 全小脑畸形 | 全小脑畸形 |
| tr | Yaygın serebellar malformasyon | Yaygın serebellar malformasyon |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17114 | E | validated | |
| UMLS | C5679773 | 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 (1):
- ORPHA:729527Isolated cerebellar malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/269224
- This record as JSON: /data/d/269224.json