ECE Project Group 02-08-2016

1

Welcome

BGO

2

Goals for 2016

BGO

1. Clarification of the questions that keep coming up from the CTP and authors w revision of the editorial guidelines
a. A need for further education surrounding the clinical life phase interpretation of clinical findings/disorders
b. When to use co-occurrent vs. co-occurrent and due to
c. Causal and non-causal associations
d. Use of causative agent vs. due especially with regard to infections and infectious complications
e. Combined disorders + procedures (procedure complications) including introduction of new roles vs. use of temporal periods

2. Development of a test plan for evaluating whether this model classifies properly and to investigate other patterns for role grouping and nested expressions.

3

Review of presentation on X with Y update for consultant terminologists

BGO

See attached file, "Combined clinical disorders"

4

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).

5

Discussion of temporal sequences - consideration for approving "during" attribute vs. extending range of occurrence (or adding a new role) for 307142001 |Temporal periods (qualifier value)|

BGO

See attached file, "Temporal sequences combined Inception-Elaboration Phase v1_revision 2

6

Additional goals for 2016

ALL

7

Discussion re. addition of potential new members

ALL

8

AOB

ALL

9

Adjourn

BGO