ORPHA:269209
Isolated partial cerebellar vermis agenesis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
This disease is described under Isolated cerebellar vermis agenesis
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated partial cerebellar vermis agenesis | |
| fr | Agénésie isolée partielle du vermis cérébelleux | |
| de | Isolierte partielle Agenesie des Kleinhirnwurmes | |
| es | Agenesia aislada parcial del vermis cerebeloso | |
| it | Agenesia parziale isolata del verme cerebellare | |
| nl | Geïsoleerde partiële cerebellaire vermis-agenesie | |
| pt | Agenesia do vermis cerebeloso parcial isolada | |
| pl | Izolowana częściowa agnezja robaka móżdżku | |
| cs | Izolovaná parciální ageneze mozečkové vermis | Izolovaná parciální ageneze vermis mozečku |
| uk | Ізольована часткова агенезія червяка мозочка | |
| zh | 孤立性部分小脑蚓部发育不全 | |
| tr | İzole kısmi serebellar vermis agenezisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0017109 | E | validated | |
| UMLS | C5680780 | 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 (1):
- ORPHA:269203Isolated cerebellar vermis agenesis
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
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.
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/269209
- This record as JSON: /data/d/269209.json