Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

[Merge] MONDO:0016022 'early myoclonic encephalopathy' #8557

Open
nicolevasilevsky opened this issue Jan 10, 2025 · 1 comment
Open

[Merge] MONDO:0016022 'early myoclonic encephalopathy' #8557

nicolevasilevsky opened this issue Jan 10, 2025 · 1 comment
Assignees
Labels
epilepsy merge on list Added to the obosletion or merge candidate list.

Comments

@nicolevasilevsky
Copy link
Member

nicolevasilevsky commented Jan 10, 2025

Merge Mondo term (ID and Label)
MONDO:0016022 'early myoclonic encephalopathy'

Into:
MONDO:0800491 'early-infantile DEE'.

Suggested revision and reasons
According to ILAE:
"Early-infantile developmental and epileptic encephalopathy syndrome (EIDEE) is characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination. This syndrome encompasses the previous syndromes of Ohtahara syndrome and early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early."

image

@nicolevasilevsky
Copy link
Member Author

Note - do not add to list until we've discussed this at the epilepsy workshop on Jan 17, 2025

@nicolevasilevsky nicolevasilevsky changed the title [Revise subclass] MONDO:0016022 'early myoclonic encephalopathy' [Merge] MONDO:0016022 'early myoclonic encephalopathy' Jan 15, 2025
@nicolevasilevsky nicolevasilevsky added the on list Added to the obosletion or merge candidate list. label Jan 20, 2025
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
epilepsy merge on list Added to the obosletion or merge candidate list.
Projects
None yet
Development

No branches or pull requests

1 participant