ORPHA:306776
Sporadic hyperekplexia
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sporadic hyperekplexia | |
| fr | Hyperexplexie sporadique | |
| de | Hyperekplexie, sporadische | |
| es | Hiperekplexia esporádica | Hiperecplexia esporádica · Hiperplexia esporádica |
| it | Iperecplessia sporadica | |
| nl | Sporadische hyperekplexie | |
| pt | Hiperecplexia esporádica | |
| pl | Hiperekpleksja sporadyczna | |
| cs | Sporadická hyperekplexie | |
| uk | Спорадична гіперекплексія | |
| zh | 散发的过度惊吓反应症 | |
| tr | Sporadik hiperekpleksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G25.8 | NTBT | attributed | validated |
| MONDO | 0017659 | E | validated | |
| UMLS | C5191042 | 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:306773Hyperekplexia
rare neurological diseases
No children.
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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/306776
- This record as JSON: /data/d/306776.json