1

Welcome and role call

BGO

1

Review of minutes from last meeting

BGO

Topics for presentation at EAG session at upcoming IHTSDO business meeting

BGO

• Guidelines for modeling combined disorder patterns

• Addition of during, during AND/OR after to associated with role hierarchy

• Syndromes in which constituent conditions are variably present

• Application of ECE guidance retrospectively. Maintenance of existing descriptions that may be ambiguous

Question from JCA regarding rare syndromes in which constituent conditions are variably present BGO

• HTSDO has entered into a collaborative agreement with INSERM to add Orphanet rare diseases to the International release of SNOMED CT. A review of the terms and initial modeling has identified a couple of issues for which we need advice and consultation. This is being brought up outside the normal EAG call schedule due to the large amount of content that we have agreed to add in a relatively short period of time.

The diseases in question represent a set of around 1700 rare conditions that are variably named for the primary clinical manifestations and the eponymous name of the people who identified the condition. E.g.:
Hydrocephalus-agyria-retinal dysplasia syndrome
Walker-Warburg syndrome
It is currently editorial policy that IHTSDO does not add eponyms as FSNs. The issue with these terms is that the clinical manifestations in the name of these diseases are variably present and often not co-occurrent. Therefore, they cannot be modeled as always and necessarily being true as having those conditions. Likewise, we cannot use the "co-occurrent" naming pattern.
We would like some advice from the ECE and EAG members on how to address this need to add this content in a short time frame. Questions:
1. Which term should be the FSN (eponym or clinical term)
2. If the latter, what is the proper structure of the FSN? Currently Orphanet uses dashes to separate the different clinical manifestations (see above).

4

Drug overdoses

YGA

• Should drug overdoses be disorders or events?

6

AOB, adjourn

ALL