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rcpch / rcpch-audit-engine

Epilepsy12 Audit Platform
https://e12.rcpch.ac.uk/
GNU Affero General Public License v3.0
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Add epilepsy causes: 16p11.2 microduplication, HCN1 pathological variant and 2p16 microdeletion #1005

Closed nikyraja closed 1 week ago

nikyraja commented 2 weeks ago

Hello,

Please could the following epilepsy causes be added to the platform. 16p11.2 microduplication ; SCTID: 699307007 HCN1 pathological variant related epilepsy ; none 2p16 microdeletion ; none

Some don't have snowmed codes, is that okay?

eatyourpeas commented 2 weeks ago

The 16p microduplication I added along with the deletion last week. The others we shall have to add to the admin directly. Is that the exact wording you would like?

nikyraja commented 2 weeks ago

yes please!

nikyraja commented 1 week ago

I've (hopefully) added HCN1 pathological variant related epilepsy & 2p16 microdeletion onto the platform, and Simon has added 16p11.2 microduplication.