ORPHA:306759

Non progressive epilepsy and/or ataxia with myoclonus as a major feature

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Non progressive epilepsy and/or ataxia with myoclonus as a major feature
fr	Epilepsie et/ou ataxie non progressive avec myoclonie comme manifestation majeure
de	Nicht-progressive Epilepsie und/oder Ataxie mit Myoklonie als Hauptmerkmal
es	Epilepsia no progresiva y/o ataxia con mioclonos como característica principal
it	Epilessia non progressiva e/o atassia con mioclono come segno cardinale
nl	Niet-progressieve epilepsie en/of ataxie met myoclonus als hoofdkenmerk
pt	Epilepsia não progressiva e/ou ataxia com mioclonia como característica principal
pl	Niepostępująca padaczka i(lub) ataksja, w której mioklonus jest objawem głównym
cs	Non-progresivní epilepsie a/nebo ataxie s myoklonem jako hlavním příznakem
uk	Непрогресуюча епілепсія та/або атаксія з міоклонусом як основною ознакою
zh	肌阵挛为主的非进行性癫痫和/或共济失调
tr	Esas klinik özelliği miyoklonus olan ilerleyici olmayan epilepsi ve/veya ataksi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17654	E		validated
UMLS	C5681051	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:306756Epilepsy and/or ataxia with myoclonus as a major feature
rare genetic diseases; rare neurological diseases

Children (2):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/306759
This record as JSON: /data/d/306759.json