IHTSDO-501 Review of Secondary X (disorder) concepts versus X associated with another disease (artf6302)
INCEPTION Document
Project ID: https://projects.jira.snomed.org/browse/IHTSDO-501
Amendment History
Version | Date | Editor | Comments | Original Word doc  |
0.03 | 20171214 | @Matt Cordell | Minor editorial review/update before transitioning to confluence. Appendix A, updated to reflect July 2017 content. | |
0.02 | 20151113 | @Matt Cordell | Revised following CTP review. | |
0.01 | 20150711 | @Matt Cordell | Initial draft |
1 Glossary
1.1 Domain Terms
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2 Introduction
2.1 Purpose
The purpose of this project is to review concepts of the pattern “Secondary X” and “X associated with another disease” and possibly identify their difference and define logical and text definitions.
SNOMED CT projects transition from Inception Phase à Elaboration Phase à Construction Phase à Transition Phase. This document describes the Inception Phase. The elaboration phase, in which one or more technical solutions may be developed and tested, may result in more than one document.
The purpose of the Inception Phase is to agree with stakeholders the detail of the problem to be addressed and its scope boundaries. The resulting problem description must also be of sufficient detail such that the size and impact of any resolution might have on the terminology as a whole and its users can be understood.
Subject to adequate review by stakeholders and subsequent revision, the inception phase document becomes the primary input to the Elaboration Phase of the project, in which the potential solutions are considered.
2.2 Audience
The audience for this document includes all standards terminology leaders, implementers and users but is primarily targeted at those stakeholders from terminology authors responsible for authoring SNOMED CT and clinicians who may record diagnoses or patient notes using SNOMED CT.
2.2.1 Identification of stakeholders
Any clinician who might record notes about a patient is likely to encounter patients with multiple disorders, and more importantly, may like to specify the relationship between the disorders by either sequence or causality.
2.2.2 Input from stakeholders
Comments on this topic have been sought directly from a small selection of primary care and acute care physicians. Presentation of this topic at the Consultant Terminologist meeting has also occurred.
2.2.3 Degree of consensus on the statement of problem
3 Statement of the problem or need
3.1 Summary of problem or need, as reported
Concepts with these naming patterns ("secondary X" or "X associated with another disease") were reviewed for detection of duplicates, E.g. Secondary cardiomyopathy (disorder) and Cardiomyopathy associated with another disease (disorder): Secondary cardiomyopathy (disorder) was retired, and the children made subtypes of Cardiomyopathy associated with another disorder (disorder). About one hundred concepts involved.
There is a need for text definitions for these concepts and logical definitions for these concepts.
3.2 Summary of requested solution
Review all concepts of the pattern “Secondary X” and “X associated with another disease”.
Determine if such duplicates exist between the two sets.
Develop text definitions for such concepts.
Develop logical definitions for such concepts.
3.3 Statement of problem as understood
There may be some duplication of content between concepts following the naming patterns of “Secondary X” and “X associated with another disease”. The concepts of interest do not specify what the other disease might be. Text definitions and logical are required, to eliminate duplicates and improve reproducibility and consistency.
3.4 Detailed analysis of reported problem, including background
The first thing that is apparent with this relationship that these sorts of concepts are at least related, if not duplicates. Saying some disorder is “associated with another disease” – simply indicates some vague association. There is no (or shouldn’t be) any implication of causality or sequence.
Secondary, however – implies a certain sequence. Most definitions[1],[2] of “Secondary disorder” suggest something like:
a disorder subsequent to and/or a consequence of another disorder
Some points to note:
Definitions seem to vary in regards to the causality requirement. Some favour disjunction, others conjunction.
To be caused by some other disorder, there’s obviously a sequence where the ‘causing’ disorder exists first.
Considering some (somewhat random) examples of secondary disorders:
Secondary hemorrhage (disorder) | |
Secondary glaucoma (disorder) |
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Secondary syphilis (disorder) |
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The meaning of secondary depends on the disease:
Sometimes, it refers to later non-immediate disorders (relative to some reference);
Quite often, Secondary is distinct from primary – where primary is idiopathic and secondary some specific cause;
Other times, the stage or phase, or subsequent manifestations of a disorder.
These ‘definitions’ are not definitive but intended to illustrate that it may be difficult to develop a text definition for something like 48873002| Secondary disease (finding)|. The logical definition is even more so problematic, as it is likely to require general concept inclusions. Nevertheless, resolving these problems for specific disorders should be viable.
The original request –to review “secondary X" or "X associated with another disease" terms, was not specific about if it included (finding) as well as (disorder) semantic tags. Additionally, there’s mention of about 100 concepts. Initial queries strictly adhering to this pattern, produced similar counts. Yet much more permissive queries produced almost 1000. Though most related to specific subtypes; e.g. variants of the site or causal/primary disorder; e.g. “Secondary malignant neoplasm of abdominal esophagus (disorder)”, There were many more terms that looked to be in scope of this project, but adhered to a more complex term pattern. A variety of query variants were run to identify a suitable set of concepts for review (all instances of <word> optional, except that following “Secondary”:
Query | (disorder) count | (finding) count |
|---|---|---|
secondary <word> | 46 | 8 |
<word> secondary <word> | 54 | 9 |
<word> secondary <word>* | 790 | 13 |
<word> secondary <word><word><word><word> | 350 | 13 |
To reduce the noise and control scope it is recommended for this project to focus on concepts with:
An FSN pattern “<word> Secondary <word><word><word>” – where all but the second <word> are optional; and
Either semantic tag (disorder) or (finding)
Exclude terms with neoplasm or carcinoma – investigate as a dedicated separate issue.
Exclude terms with ‘syphilis’ – large range. Perhaps also worthy of own issue. “Secondary syphilis” being a natural progression of the disease.
This revised pattern produces about 214 concepts for review.
The number of concepts of the “X associated with another ” pattern is more predictable. There are simply two variants:
“<word>* associated with another disorder (disorder)” – 37 concepts
“<word>* associated with another disease (disorder)” – 3
“<word>* associated with another %” – 42
Note: The third wildcarded pattern includes the previous results plus
Hypotony of eye associated with another ocular disorder (disorder)
Arthropathy associated with another systemic disease (disorder)
Upon getting clinically agreed text definitions for these concepts, the logical definitions should be relatively straightforward. To ensure this, text definitions should attempt to include specific types of associations, specifically in relation to causality.
An additional pattern was identified during analysis - “X secondary to another disease/disorder”.
3.5 Subsidiary and interrelated problems
This problem has a wide range of related tracker items as both dependencies and dependents including:
https://projects.jira.snomed.org/browse/IHTSDO-556
https://projects.jira.snomed.org/browse/IHTSDO-639
https://projects.jira.snomed.org/browse/IHTSDO-479
https://projects.jira.snomed.org/browse/IHTSDO-697
https://projects.jira.snomed.org/browse/IHTSDO-718
https://projects.jira.snomed.org/browse/PCP-160
https://projects.jira.snomed.org/browse/IHTSDO-96
https://projects.jira.snomed.org/browse/IHTSDO-967
Missing artf233786 Alignment of Existing Content to "X with Y" and "X due to Y" patterns from "X associated with Y"
4 Risks / Benefits
4.1.1 Risks of not addressing the problem
Duplicate concepts continue to exist and may be created within the terminology.
4.1.2 Risks of addressing the problem
If text (and logical) definitions determined do not align with clinical practice, terminology content may not meet the requirements of, or worse, conflict with, clinical practice.
5 Requirements: criteria for success and completion
5.1 Criteria for success/completion
Text and logical definitions for:
The grouper 48873002| Secondary disease (finding)|;
All concepts with of the pattern “Secondary X”;
All concepts with the FSN pattern “X associated with another X”
All concepts with the FSN pattern “X secondary to another X”
(All concepts listed in Appendix1)
5.2 Strategic and/or specific operational use cases
Outline fit with IHTSDO strategic goals;
5.2.1 Recording and Retrieval of diagnoses
5.2.1.1 Fit with IHTSDO strategy
While a user recording concepts of the pattern Secondary X and X associated with another disorder may know what they mean. Secondary analysis may be unpredictable if the modelling is not consistent. Secondary usage may be interested in specifically causative, following or co-occurrence.
Clinical users may be unlikely to record a phrase “X associated with another disorder” without actually specifying what the other disorder is. Such concepts would be groupers and may subsume a mix of “X following Y” and “X caused by Y” as applicable.
6 Outline Possible Technical Approaches and Concept Model
6.1 Indicative Solutions
6.1.1 Approach One
The most obvious approach is to extract all the concepts that match the suspect pattern and determine an appropriate text definition for each. Most importantly with feedback from the clinical community of practice where possible.
Upon “defining” the suspect concepts – a comparison can be performed checking for possible duplicates. Given that there are a much smaller number of “associated with another” concepts. It may be worthwhile to prioritize development of definitions for these, and “Secondary” concepts for similar diseases.
This prioritized list should enable the elimination of possible duplicates.
Clinically agreed text definitions for the other “Secondary” concepts, will support authoring of the logical definitions.
It would also be advisable to revise the FSNs such that they reflect truly unambiguous phrases.
For example:
Secondary porphyria (disorder) – Porphyria due to some substance (disorder)
Each instance, however, must be evaluated to determine if it is consistently “Due to”, “After” or “Caused by” or all three. In the case of all three, it may be appropriate to use associated with.
Secondary gout (disorder) -> Gout associated with some known mechanism (disorder)
Concepts that have an FSN contained “Associated with” should similarly be reviewed for causality and temporal sequence. If neither is known, it may be likely the concept is a simple co-occurrence.
6.1.1.1 End user Impact of approach one
Duplicate concepts are identified promptly.
Text and Logical definitions are eventually developed for more concepts.
7 Indicative Project Plan
7.1 Scope of elaboration phase
The elaboration phase, should begin with developing definitions for at least all the similar “associated” and “secondary” concepts. Following stakeholder review of the text definitions, subsequent logical definitions can be developed.
It is possible that that are very few actual duplicates amongst these types of concepts within the terminology. Even so, development of the text definitions will allow reliable development of logical definitions.
After this initial stage, lessons learnt from the process can be applied to subsequent stages to complete the project.
Skills required:
Access to a representative range of clinical experts who can comment on the validity of the text definitions that are developed.
Validation of the logical definitions may be viable with IHTSDOs resources of terminology authors and consultant terminologists.
7.2 Projection of overall project size and resource requirements
7.2.1 Expected project resource requirement
The project resource requirement is classed as SMALL – less than 1 person-year
7.2.2 Expected project impact and benefit
The project impact is MEDIUM – unambiguous text and logical definitions for these concepts will provide a reference and guidance allowing other more substantial related projects to progress.
7.2.3 Indicative resource estimates for elaboration, construction, transition and maintenance:
Elaboration phase: 4 person month effort, 6 months elapsed time
Developing the text definitions is achievable. Gathering stakeholder consensus on the definitions will be more onerous.
Construction and transition phase: < 50 new concepts to be authored
<200 concepts may be retired as duplicate
Maintenance phase: < 5 new concepts per year. Based on historical additions (1 or 2 on average)
8 Appendices
8.1 Appendix One: Regular Expressions for Identifying Concepts
List of candidates from query – July 2017 data (updated since original analysis)
select conceptId,term from descriptions_snapshot
where active
and isKindOf(conceptId, 404684003) -- Clinical finding (finding)
and typeId = 900000000000003001 -- FSN
and (
term REGEXP '.+ associated with another .+'
OR (term REGEXP '^([[:alnum:]]+ )?secondary ([[:alnum:]]+ ){1,4}\\((disorder|finding)\\)$'
AND term NOT REGEXP '^([[:alnum:]]+ )?secondary .*(of |to ).* \\((disorder|finding)\\)$')
) ;
[1] http://medical-dictionary.thefreedictionary.com/secondary+disease
[2] http://www.merriam-webster.com/medlineplus/secondary
[3] http://medical-dictionary.thefreedictionary.com/secondary+hemorrhage
[4] https://surgeryonline.wordpress.com/2008/09/20/haemorrhage/
[5] http://www.meb.uni-bonn.de/dtc/primsurg/docbook/html/x858.html
[6] http://www.mayoclinic.org/diseases-conditions/glaucoma/basics/symptoms/con-20024042