Drug Model Editorial Guide

Received 51 comments from six countries on the initial draft of the editorial guidelines for modeling and terming drugs. All issues identified were resolved or deferred.

Second iteration of guidelines released in early March.

Existing tracker: "In remission" disorders

Hold over item from initial meeting in Uruguay. Has been brought up again with a large number of requests for addition of "X in remission" concepts.

Existing Inception document: Modeling "disease in remission"

Document definition: "The period in the course of a disease/condition during which there is temporary lessening or abatement of signs and/or symptoms of the disease."

Based on historical view of "Disease in remission" there are some assumptions:

1. The disease condition is still present.
2. The disease is chronic and/or progressive

Prior proposals:

• Model as situations with the reactivation of 278174000 | Disease phase (attribute) | with allowed values >303105007 | Disease phases (qualifier value) | with necessary changes to this set to align with standard representation of disease phases
• Leave the concepts in the disorder hierarchy and create a new attribute such as disease activity and include as its range, qualifier values that specifically represent disease activities such as remission, recurrent, relapsing, active, relapsing/remitting, etc.
• Model disorder X in remission as a child of disorder X and a child of disorder in remission (the latter as a replacement for patient in remission).
• Extend the set of values under "Courses" to include disease phases and model "Disease in remission" as a subtype of "Disease"

One related issue is the current overlap of concepts under "Courses" and "Disease phases".

Challenge is that disease phases differ with the "type" of disease.

• Infectious disease
• Malignant disease
• Mental and behavioral disorders

Question: Pros and cons of creating type specific phases?

The result of this discussion should be extensible to other patterns of "Disease in X" (e.g. latent disease, relapse, etc.) for which there are several CRS requests outstanding.

Related issue: IHTSDO-407 Frequencies and Courses

Discussion:

BGO reviewed the document and asked about the relationship of remission to "disposition". He sees overlap between those notions. Favors making disease in remission as a subtype of the disease. Also favored a separate "disease in remission" hierarchy (primitive parent). Needs additional discussion in London.

•   Approval of minutes

At the April London business meeting, it was determined that an approach to the identification of the recommended content of the proposed clinical core be determined by a set of both inclusion and exclusion criteria.

Agreed inclusion criteria:

• global applicability
• contextless
• clinically oriented (including content from foundation hierarchies needed to define concepts)
• supported by a clinical use case
• used to align with other terminology standards (e.g. ICD)

Exclusion criteria include:

• administrative, operational or status concepts
• situations with explicit context
• combined disorders

Discussion: Additional high level exclusion criteria

Following a panel discussion at the ICBO conference in Buffalo Aug 1-2, an agreement in principle for SNOMED to collaborate with the OBO community was reached. Much of the discussion revolved around the current representation of diseases as subtypes of clinical findings. There is a clear, mutually exclusive separation in BFO and other disease ontologies based on BFO between "diseases", which are specifically dependent continuents and clinical observations (i.e. findings), which are considered occurrents. The challenges in implementing this notion in SNOMED is explained in https://www.academia.edu/26897896/Scalable_representations_of_diseases_in_biomedical_ontologies.

As we had initially discussed, one differentiating feature of what we are calling findings is the notion of temporality, i.e a findings is made at a point in time (an occurrence) whereas a disease is persistent. This is similar to the notions in BFO, but they (and all other disease ontologies) refer to diseases as dispositions (i.e. a realizable entity that is manifested as some abnormal process or structure. For terminologies like SNOMED that do not seek to define diseases, but to identify when a realization of the disease disposition occurs in a patient, this logical representation breaks down.

At the ICBO conference, a paper was presented in which an attempt was made to "BFOize" ICD-10. It was clear to the authors of that paper, the conundrum we face, i.e. that the use of the terms in ICD-10 as dispositions was not appropriate because they had been realized and so they modeled their ICD-10 ontology as processes (i.e. occurrents). This was savaged by the rest of the ontologists, but there was no practical solution to the need for representation of realized dispositions in clinical recording.

Regardless, it would be of some benefit, in light of our desire to resolve the findings/disorders issue, to attempt to align as closely as possible with top level ontologies. One area where this would be of great use is the move by SNOMED to improve coverage of genomics. This would be greatly enhanced by an ability to integrate with the genome ontology.

Discussion:

•  JCA to test the use of subtypes of Physical object as values for SPECIMEN SOURCE IDENTITY.