ORPHA:279882
Spasmus nutans
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy
- Status
- active
Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spasmus nutans | |
| fr | Spasmus nutans | |
| de | Spasmus nutans | |
| es | Espasmo nutans | |
| it | Spasmus nutans | |
| nl | Spasmus nutans | |
| pt | Spasmus nutans | |
| pl | Utrzymujące się drgawki | |
| cs | Spasmus nutans | |
| uk | Spasmus nutans | |
| zh | 点头状痉挛 | |
| tr | Spasmus nutans |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | F98.4 | NTBT | index | validated |
| ICD-11 | 8A04.Y | NTBT | index | validated |
| MONDO | 0017201 | E | validated | |
| UMLS | C1527306 | E | validated | |
| MedDRA | 10059593 | 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:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders
No children.
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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 | 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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000639 | Nystagmus | |
| HP:0000473 | Torticollis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/279882
- This record as JSON: /data/d/279882.json