IHTSDO-451 (artf6251) HAS DEFINITIONAL MANIFESTATION (out of date)
- IHTSDO-451Getting issue details... STATUS
HAS DEFINITIONAL MANIFESTATION |
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Project ID: artf6251 |
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Date | September 25th 2015 |
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Version |
| 2.0 |
Amendment History
Version | Date | Editor | Comments |
0.01 | 20140723 | Tedra Leonard | First draft for comments |
0.02 |
| Keith Campbell | Second draft for comments |
1.0 | 20141008 | Keith Campbell | First stable version |
1.1 | 20141208 | Keith Campbell | Revised secondary to review. |
2.0 | 20150801 | Keith Campbell | Elaboration phase |
2.1 | 20160531 | Keith Campbell | Revisions from review |
This word attachment has data about all the concepts recommended for change. Pages 1-9 of this document detail the specific recommended change for each concept with the Has definitional manifestation relationship.
This document has the reviewer comments and responses to them, and also showing revisions in response to comments.
Table of Contents
1 Glossary
1.1 Domain Terms
2 Introduction
2.1 Purpose
2.2 Audience and stakeholder domain
2.2.1 Input from stakeholders
2.2.2 Degree of consensus on the statement of problem
3 Statement of the problem or need
3.1 Summary of problem or need, as reported
3.2 Summary of requested solution
3.3 Statement of problem as understood
3.4 Detailed analysis of reported problem, including background
3.4.1 18-p syndrome with associated immunodeficiency (disorder)
3.5 Subsidiary and interrelated problems
4 Risks / Benefits
4.1.1 Risks of not addressing the problem
4.1.2 Risks of addressing the problem
5 Requirements: criteria for success and completion
5.1 Criteria for success/completion
5.2 Strategic and/or specific operational use cases
5.2.1 Use case 1
5.2.2 Use case 2
6 Solution Development
6.1 Initial Design
6.1.1 Outline of initial design
6.1.2 Significant design or implementation decisions / compromises
6.1.3 Evaluation of Design
6.2 Iteration One
6.2.1 Outline of design
6.2.2 Evaluation of Design
6.3 Iteration Two
6.3.1 Outline of revised design
6.3.2 Significant design or implementation changes
6.3.3 Evaluation of Revised Design
7 Recommendation
7.1.1 Detailed design final specification
7.1.2 Iteration plan
8 Quality program criteria
8.1 Quality metrics
8.1.1 Quality metric 1
8.1.2 Quality metric 2
9 Project Resource Estimates
9.1 Scope of construction phase
9.2 Projection of remaining overall project resource requirements
9.2.1 Expected project resource requirement category
9.2.2 Expected project impact and benefit
9.2.3 Indicative resource estimates for construction, transition and maintenance:
Glossary
Domain Terms
URU | SNOMED modelers follow three basic operational criteria that help determine whether new content is following the principle of creating and sustaining semantic interoperability. These tests are summarized with the acronym "URU", standing for: |
Has Definitional Manifestation | This attribute links disorders to the manifestations (observations) that define them. It can only be applied to disorders. |
Attribute | Express characteristics of concepts. |
Associated With | Represents a clinically relevant association between concepts without either asserting or excluding a causal or sequential relationship between the two. [editorial guide] |
Introduction
Purpose
The purpose of this project is to consider that the attribute HAS DEFINITIONAL MANIFESTATION requires review for reproducibility and consistency. In October 2009, this attribute is used 288 times in the stated view but impacts 4600 concepts in the inferred view.
SNOMED CT projects transition from Inception Phase ? Elaboration Phase ? Construction Phase ? Transition Phase. This document combines the documentation of the Inception and Elaboration Phases.
The Inception Phase focuses on understanding the problem and its scope, identifying stakeholders and their requirements, and identifying risks.
The purpose of the Elaboration Phase is to develop, document and test one (or more) possible technical solutions, and to reach a recommendation and provide a detailed specification of a preferred solution to be taken forward to the construction phase.
Audience and stakeholder domain
The audience for this document includes all standards terminology leaders, implementers and users but is especially targeted at those stakeholders with an interest in doing quality control on disorder attributes in SNOMED CT.
A further significant audience is the community of SNOMED authors that may be requested to implement the recommended specification.
This request was submitted to the Consultant Terminologist Program by Kent Spackman in March of 2010.
Input from stakeholders
The HAS DEFINITIONAL MANIFESTATION attribute is not being used in an understandable, reproducible, and useful fashion.
Degree of consensus on the statement of problem
The statement of the problem is clear, and my conversations with modelers indicate a shared concern regarding lack of reproducibility of this attribute, there is still sense among some that there is utility in the attribute if we can improve how it is used. The editorial guide says that [t]his attribute links disorders to the manifestations (observations) that define them. It can only be applied to disorders.
Unfortunately, a reproducible distinction upon what constitutes a disorder has been an elusive challenge, and it is also challenging to know when an observation is merely obvious and does not need to be defined, and when it should be defined in an URU fashion. For example, Peutz-Jeghers syndrome (disorder), is a disorder in SNOMED, which is caused by mutations in the STK11 (also called LKB1) tumor suppressor gene located on chromosome 19p13. Thus an observation that the patient had this mutation manifest would be expected, but there is no HAS DEFINITIONAL MANIFESTATION relationship associated with Peutz-Jeghers syndrome (disorder) within SNOMED at this time, and there is no concept associated with STK11 gene mutations, but there are concepts associated with other genetic mutations such as BRCA1 and BRCA2.
Should new observations, such as observations of STK11 mutation or BRCA1 mutation be added so that HAS DEFINITIONAL MANIFESTATION can be reproducibly applied?
Statement of the problem or need
Summary of problem or need, as reported
The following description is provided on the IHTSDO issue tracker:
The attribute HAS DEFINITIONAL MANIFESTATION requires review for reproducibility and consistency. In October 2009, this attribute is used 288 times in the stated view but impacts 4600 concepts in the inferred view.
The SNOMED Editor guide defines HAS DEFINITIONAL MANIFESTATION as an "attribute [that] links disorders to the manifestations (observations) that define them. It can only be applied to disorders…" Note that a definitional manifestation is not necessarily pathognomonic (pathognomonic meaning that a clinical sign or lesion is so characteristic of a specific disease that one can make a diagnosis—definitive or highly suggestive diagnosis—based on simply seeing the sign or lesion). I make this clarification because I initially mistakenly thought the definitional manifestations where intended to be pathognomonic.
Summary of requested solution
There is no specified solution other than to review use of Has Definitional Manifestation, to determine if it is understandable, reproducible, and useful, or to make recommendations concerning the disposition of HAS DEFINITIONAL MANIFESTATION. My review of the SIRS tracker has 7 related issues:
- Fredrickson lipidemias: 393998
- Disorder - def manifestation: 392442
- rubella deafness: 348108
- Functional abdominal pain syndrome (disorder): 348107
- Disorder characterized by back pain (disorder): 348106
- Painful blind eye (disorder): 348105
- Osteoarthritis of multiple joints (disorder): 6034
My review of these trackers are they wish to provide a more specific definition, and propose use of HAS DEFINITIONAL MANIFESTATION, but they don't specifically give reasons why use of this attribute is a better solution that others that we might consider. Some also state that use of HAS DEFINITIONAL MANIFESTATION is on hold until the reproducibility of the attribute can be sorted out. I believe a more reproducible and useful solution is to use is-a, in most cases, instead of HAS DEFINITIONAL MANIFESTATION, or to eliminate the relationship in others, as I will describe in this document.
Statement of problem as understood
From this problem statement, it is inferred that the attribute Has Definitional Manifestation has likely been overused or incorrectly used, leading one to believe that the basic operational criteria of URUmay no longer apply to Has Definitional Manifestation. Concepts with this attribute will need to be analyzed for appropriate use, and likely have attributes modified to regain alliance with this overarching principal for SNOMED CT content creation.
Detailed analysis of reported problem, including background
A search query was performed, showing that 3063 concepts in SNOMED CT include a relationship type of Has Definitional Manifestation. Subsequent metrics have shown some clean up of usage of this attribute, including reduction in the number of stated circular relationship (a relationship pointing to the parent of the concept it defines). For example, consider the definition for "Female infertility:"
Figure 1. Stated definition for Female infertility showing a circular relationship.
Note the "Has definitional manifestation" relationship to "Infertile (finding)—a concept that Female infertility should be a kind-of.
Since Female infertility is also a kind of "Infertile (finding)", the "Has definitional manifestation" relationship can be considered a circular relationship, a relationship defining a concept whose restriction is also a kind-of the concept being defined.
Figure 1. Circular stated relationship counts over time for "Has definitional manifestation"
From this set, some concepts where selected to examine if the use of the Has Definitional Manifestation is URU. Consider for example, Adrenocorticotropic hormone hypersecretion (disorder) has a definitional manifestation of Increased hormone production (finding).
Figure 2. Inferred definition of Adrenocorticotropic hormone hypersecretion (disorder).
Increased hormone production (finding) has ~45 concepts that use it for the restriction of has definitional manifestation relationships. It's sibling, Decreased hormone production (finding) has ~15 concepts that use it as a restriction of the has definitional manifestation relationships. Notably absent from this list is Diabetes mellitus type 1 (disorder) which is simply defined as:
Figure 3. Inferred definition of Diabetes mellitus type 1 (disorder).
Where I believe that consistent use of the Has definitional manifestation would require such a relationship to Decreased hormone production (finding) for Diabetes mellitus type 1 (disorder).
Based on current usage, application of the Has definitional manifestation attribute is at least incomplete (not used everywhere it can be used), if not inconsistent (the patterns of usage are applied more rigorously in different areas of the taxonomy than in others). I think that definitional manifestation is so broad that essentially every observation (not just diseases) should have the relationship if it were to be retained. Ways to improve consistency would then require automated support through QA rules requiring specification of this relationship, or requiring that the absence of the relationship be white listed. But again, this is such a large task, and would require many new concepts (such as findings of genetic mutations as I discussed above), I think we are better off splitting the problem into smaller more manageable chunks, and reconsider how Has definitional manifestation contributes to the overall structure, and consider if the cost of maintaining this relationship proportional to the benefit of doing so. Based on my analysis and experience, there is a better way to go forward, by reconsidering the use and interpretation of is-a in the context of findings and diseases.
Given current and historical challenges making reproducible distinctions between clinical findings, observations, problems and diseases (disease currently is-a clinical finding whereas there was a historical effort to make disease and clinical finding disjoint) there is an uncomfortable recursion of sorts, where the terminologist might have to debate if an is-a relationship or a has-definitional-manifestation relationship—or both—might be appropriate for relating two clinical finding concepts to each other. An example of the challenges would be that you are modeling a finding (not a disease/disorder), but you believe that the concept you are modeling meets the criterion for a disease/disorder? Having to make judgments about disease/disorder just complicates the task, as you cannot (currently) apply definitional manifestation to a finding that is not a disorder.
18-p syndrome with associated immunodeficiency (disorder)
18-p syndrome with associated immunodeficiency (disorder) is a representative example that demonstrates the challenge associated with modeling Has definitional manifestation.
In many cases, the use of the Has definitional manifestation attribute is very general, for example saying that 18-p syndrome with associated immunodeficiency (disorder) Has definitional manifestation
Immune system finding. Figure 4. Original stated definition of 18-p syndrome with associated immunodeficiency (disorder)(below) shows the stated definition of 18-p syndrome with associated immunodeficiency (disorder) and Figure 5 (below) shows the inferred form of this concept. Note that the Has definitional manifestation relationship to Immune system finding (finding) is an inherited relationship. But why not model the concept by saying that 18-p syndrome with associated immunodeficiency (disorder) Is a Immune system finding (finding)?
Figure 4. Original stated definition of 18-p syndrome with associated immunodeficiency (disorder)
Figure 5. Inferred form of 18-p syndrome with associated immunodeficiency (disorder) prior to adding an is-a relationship to Deletion of short arm of chromosome 18 (disorder). Note that the Has definitional manifestation relationship is inherited from an ancestor concept, specifically Immune system finding (finding).
I think we would be better off stating that 18-p syndrome with associated immunodeficiency (disorder) Is a Immune system finding, rather than stating that it Has definitional manifestation Immune system finding. This use of the Is a will simplify class-based retrieval of the concepts, and reduce retrieval errors. For example, under current definitions, querying for an Immune system finding will fail to retrieve 18-p syndrome with associated immunodeficiency which most users would consider a Type II error (a failure to detect something that is present).
I'll further illustrate this recommendation, by considering how 18-p syndrome with associated immunodeficiency (disorder) should relate to the concept Deletion of short arm of chromosome 18 (disorder). The two options are to use an Is a relationship, or to use a Has definitional manifestation.
Lets consider the case of Is a first. follow this is-a modeling style, the definition of 18-p syndrome with associated immunodeficiency (disorder) can be modeled as shown below in Figure 6.
Figure 6. Proposed changes to stated form of 18-p syndrome with associated immunodeficiency (disorder)
Committing and classifying this change results in a much richer inheritance, that will be the case for adding the Has definitional manifestation relationship, as we will show next in Figure 8.
Figure 7. Inferred form of 18-p syndrome with associated immunodeficiency (disorder) after adding an is-a relationship to Deletion of short arm of chromosome 18 (disorder).
Figure 8. Adding a relationship to Deletion of short arm of chromosome 18 (disorder) as a Has definitional manifestation relationship instead of as an is-a relationship.
Figure 9. Inferred form of 18-p syndrome with associated immunodeficiency (disorder) after adding a Has definitional manifestation relationship to Deletion of short arm of chromosome 18 (disorder).
Compare the resulting inferred form, shown above in Figure 9, with the classification from adding an Is a relationship to Deletion of short arm of chromosome 18 (disorder) shown in Figure 7. Note that the inheritance is more complete when an Is a relationship is used than it is when a Has definitional manifestation relationship is used. The more complete inheritance that results from using an Is a relationship will result in less Type II retrieval errors.
This simple substitution of is-a for Has definitional manifestation will require reconsidering some of the finer points of how is-a is interpreted. Consider the concept Epilepsy (disorder), which has definitional manifestation Seizure:
Figure 10. SNOMED representation of Epilepsy (disorder).
Traditionally, Kent has taught us that is not true that a Seizure disorder is a Seizure any more than it is true that a single measurement of a systolic blood pressure of 140 means that the patient has a hypertensive disorder. My review of the Has definitional manifestation uses shows that there are many uses that may be better represented as is-a relationships (central cyanosis is-a cyanosis), and some that would be improper to represent as is-a relationships given the traditional teaching (seizure disorder is-NOT-a seizure). Perhaps it is time to reconsider this specific teaching about what is-a means within the Clinical Finding taxonomy and elsewhere. After evaluating several thousand of the Is a and has definitional manifestation attributes, I came up with the following thought process that I believe simplifies, and makes more reproducible the content development and usage process with no reduction in the benefit that the description logic provides.
Is-a requires that everything that is true of the ancestor concept is true of the concept being defined. Consider that the finding taxonomy refers to findings—not EVENTS. When considering the relationship between Epilepsy (disorder) and Seizure (finding), consider if the manifestations of having a finding of an Epilepsy disorder include all of the manifestations of a seizure finding… I propose that the answer is true… In order to have an Epilepsy disorder, the patient must have had all the manifestations of a Seizure (finding), within the time span that the Epilepsy disorder is determined to be present. A seizure does not require that an Epilepsy disorder be present, but an epilepsy disorder does require that at least one instance of a seizure finding be present, so I propose that it is true that a "finding of a seizure disorder is-a finding of a seizure"… Note that this definition does not imply a specific count of seizures other than at least 1… But there had to be at least 1 finding of a seizure in order for a patient to have a seizure disorder. The is-a relationship is not a quantitative relationship, other than implying that all manifestations of the ancestor be present in the concept being defined.
Given this interpretation, how do we capture that with a hypertensive disorder, high blood pressure is observed? We capture that with and is-a to high blood pressure finding: A finding of a hypertensive disorder is a finding of elevated blood pressure, although a specific event of a particular blood pressure measurement is not implied. It is only implied that the finding of elevated blood pressure was necessarily present during the episode of the hypertensive disorder.
I presented this idea of a broader interpretation of Is a to the consultant terminologist group, who where generally unimpressed. So for the purposes of this elaboration phase, the broader interpretation will not prevail, but the basic idea of turning most of these Has definitional manifestation relationships into Is a relationships was accepted. I choose to leave the broader discussion of the use of Is a in this document as a foundation for future discussions on the topic.
Subsidiary and interrelated problems
Some ongoing challenges in creating consistency in the approach to definitional manifestation include:
- Challenges reproducibly defining the differences between observations, findings, problems, diseases, and/or disorders. The proposed approach simplifies simplifies the inherent challenges by not requiring a distinction between observations, finding, problems, and/or disorders. The proposed approach just requires that you consider if the observations, finding, problems, and/or disorders have all the manifestations of the ancestor concept at least once during the interval during which the observations, finding, problems, and/or disorders are considered present.
- Allowing defining relationships other than Is a within a discrete taxonomy (when do you use Is a vs Has definitional manifestation?). However, the challenges associated with trying to make observations, findings, problems, diseases, and/or disorders reproducibly discrete have so far been difficult. The proposed approach simplifies the problems with potential circular relationships by eliminating one of the relationships that have the potential for circular definitions, simplifying the modeling task, as well as the use/implementations tasks.
Risks / Benefits
Risks of not addressing the problem
Currently Has definitional manifestation is at least incompletely applied, if not inconsistently applied, and in some cases is applied when an is-a relationship might be more appropriate. This creates challenges when performing class-based retrieval of data, and particularly results in Type II retrieval errors.
Risks of addressing the problem
Change makes some people sorry, sad things (to quote Dar Williams). There will be inevitable disruption to the way people conceptualize and use SNOMED, good and bad.
Requirements: criteria for success and completion
Criteria for success/completion
A currently large (if not unbounded) modeling challenge of consistently applying Has definitional manifestation across the entire finding taxonomy will be reduced to a number of smaller modeling activities that can be limited in scope, while still contributing to the correctness and completeness of data retrieval that uses the SNOMED description logic for concept retrieval.
Strategic and/or specific operational use cases
The description logic representation of SNOMED needs to be understandable, reproducible, and useful. This project will incrementally improve the understandability, reproducibility, and utility of SNOMED. This improvement will make it easier to use SNOMED CT, and easier to model SNOMED CT. Specific use cases include any kind of algorithmic decision support that depends on the SNOMED semantic definitions for class-based query, or other kinds of semantic retrieval.
Use case 1
Class based queries will properly return all concepts in that class. This change will reduce the number of Type II errors associated with class based queries.
Fit with IHTSDO strategy
Class based queries are a cornerstone of the intended uses of SNOMED for decision support, or predictive analytics based on data encoded using SNOMED.
Use case 2
The definition of concepts is understandable, reproducible, and useful. This change will result in simpler modeling that will therefore be more reproducible.
Fit with IHTSDO strategy
Coherent logical definitions, modeled in an understandable, reproducible, and useful way is essential to support intended uses of SNOMED.
Solution Development
Initial Design
Outline of initial design
Review each of the Has definitional manifestation relationships, and consider which ones might be converted to is-a relationships. For the remaining Has definitional manifestation relationships, determine if they might be able to be replaced by improvements/additions in other areas of SNOMED. For example, for Angle-closure glaucoma (disorder):
Figure 11.
If the morphology concept Obstruction (morphologic abnormality) had children such as Angle closure obstruction (morphologic abnormality) would the need to represent Has definitional manifestation still exist? Further, on examining this particular finding, I noticed that there were two different relationships pointing to angle closure from the same concept Primary angle-closure glaucoma (disorder):
Figure 12.
One might ask if this a modeling error with the selection of the wrong value for definition manifestation? The closed angle is the cause not the manifestation. The closed angle is directly observable via Gonioscopy and potentially Biomicroscopy (slit lamp), so it is a manifestation that is directly correlated to a cause…
Which just makes assumed meaning of Angle closed (finding) more challenging to understand. Perhaps this concept is ambiguous and should be retired and replaced (or not replaced).
To make the process tractable, the Has definitional manifestation relationships need to be simply reviewed for the appropriates for conversion to an Is a relationship, and if appropriate, converted, and if not, deleted.
Significant design or implementation decisions / compromises
Evaluation of Design
This design was presented to the consultant terminologist group, which evaluated the positive and negative aspects of the problem.
Exceptions and Problems
The criterion for determining if an Is a relationship is an appropriate relationship was appropriate was felt to be overly aggressive. For example, criterion for accepting that a finding of seizure disorder is a finding of seizure was felt to be too aggressive.
Design Strengths
SNOMED will be more URU in its representation, and it is easer to implement.
Design Weakness
No design weaknesses, just a modification of the criterion for replacing a Has definitional manifestation relationship with an Is a relationship was requested.
Design Risks
Description of risk | Importance | Mitigation plan |
No design risks where identified. |
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Iteration One
Iteration one consisted of reviewing all the stated Has definitional manifestation relationships, and determining which once should be replaced with Is a relationships. On the initial iteration, it was determined that all relationships except those relationships on the concepts:
- Bisexual
- Female homosexual
- Male homosexual
are to be converted to Is a relationships.
Outline of design
The design of iteration one is from the original plan.
Evaluation of Design
The design was evaluated by review with the consultant terminologists group as part of a web conference.
Exceptions and Problems
Design Strengths
Simple to implement
Design Weakness
Overly aggressive converting Has definitional manifestation relationships to Is a relationships.
Design Risks
Description of risk | Importance | Mitigation plan |
Overly aggressive converting Has definitional manifestation relationships to Is a relationships. | High | Revise the criterion for converting Has definitional manifestation relationships to Is a relationships. |
Iteration Two
Iteration two was performed after feedback from the consultant terminologist group.
Outline of revised design
Significant design or implementation changes
The original plan is modified to not use Is a relationships between concepts such as Seizure disorder and Seizure. So the fact that a Seizure disorder must have had all the characteristics of at least one seizure event is not sufficient to use as an Is-a relationship, where the definition of Is-a means that all features of the parent must be present in the child.
Evaluation of Revised Design
In the revised design, it was determined that all relationships except those relationships on the concepts:
- Bisexual
- Female homosexual
- Male homosexual
- Seizure disorder
- Angle closure glaucoma
- Anxiety disorder
- Hematuria syndrome
- Gout
- Irritable bowel syndrome characterized by constipation
- Irritable bowel syndrome variant of childhood with constipation
- Fetishistic transvestism
- Perinatal cyanotic attacks
- Chronic steatorrhea
- Hypertensive disorder, systemic arteria
- Chronic hypercapnic respiratory failure
- Hypertensive lower esophageal sphincter
- Cholestatic jaundice syndrome
- Heavy chain disease
- Alpha heavy chain disease
- Monoclonal gammopathy
- Kappa light chain myeloma
- Lambda light chain myeloma
- Light chain monoclonal gammopathy of uncertain significance
- Light chain myeloma
- Gamma heavy chain disease
- Immunoglobulin A monoclonal gammopathy of uncertain significance
- Immunoglobulin A myeloma
- Immunoglobulin D monoclonal gammopathy of uncertain significance
- Immunoglobulin D myeloma
- Immunoglobulin G monoclonal gammopathy of uncertain significance
- Immunoglobulin G myeloma
- Immunoglobulin M monoclonal gammopathy of uncertain significance
- Mu heavy chain disease
- Neutropenic disorder
- Panic disorder
- Phobic disorder
- Periodic limb movement disorder
- Autoimmune neonatal thrombocytopenia
- Neonatal thrombocytopenia
- Thrombocytopenic disorder
- Protein-losing nephropathy
- Tachyarrhythmia
- Tic disorder
- Vertiginous syndrome
- Visual epilepsy
- Masquerade syndrome
- Neoplastic masquerade syndrome
- Sun-induced wrinkles
are to be converted to Is a relationships. These concepts are not recommended to use is-a because in my editorial opinion, and given current guidance, I do not believe that the origin concept of the Has definitional manifestation has all features of destination relationship.
Exceptions and Problems
None noted.
Design Strengths
SNOMED will be more URU in its representation, and it is easer to implement.
Design Weakness
None noted.
Design Risks
Possibility of incorrect Is a assignment or errant editing as is the case with any editing task.
Recommendation
Detailed design final specification
Convert all the stated Has definitional manifestation relationships to Is a relationships except those identified in Section 6.3.3. Evaluation of Revised Design.
This conversion can be easily accomplished by using the batch editing functionality of the workbench, importing the file of stated Has definitional manifestation concepts into the list view.
Iteration plan
The list in Section 6.3.3. Evaluation of Revised Design, can be iterated over as many times as necessary to get it right.
Quality program criteria
Quality metrics
I propose 2 metrics related to the Has definitional manifestation relationship evaluation.
Quality metric 1
Component | Characteristic and Description |
| Metric | Target | Result |
Circular relationships evaluation and whitelisting. | Char: | Circular relationships should be carefully evaluated to identify if they are reproducibly assignable, or if they are representing the same things an is-a relationship should. A white list shall be created so that all circular relationships that have undergone this review can be flagged so that they will not trigger future quality alerts. |
| 0 count | Circular relationship from the Has definitional manifestation relationship will be eliminated (0%) by this project. This metric should be applied to all other relationships so that they can be properly evaluated. |
| Descr: | Circular relationships shall be evaluated for conformance with editorial guidelines, and the evaluation of conformance shall be tracked over time. |
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Quality metric 2
Component | Characteristic and Description |
| Metric | Target | Result |
Concepts that have fully specified names which are the same with the exception of the semantic tag, and in the findings taxonomy should be evaluated for equivalence. | Char: | Concepts that have fully specified names which are the same with the exception of the semantic tag, and in the findings taxonomy should be evaluated for equivalence, and either whitelisted or merged. |
| 0 count |
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| Descr: | The fully specified name should adhere to terming guidelines listed in the editorial guide, sections <list sections> |
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Project Resource Estimates
Estimate project size; Editing of 292 concepts that will affect ~4000 concepts. The work of processing the particulars of these concepts, and presenting them in a document for review has already been done. A modeler should be able to accomplish a review of the data necessary to complete this task in 30 hours. Once the list is accepted, implementing the change would take less than 1 hour. If the list already provided is considered sufficient, implementing the change will take less than 1 hour.
Scope of construction phase
Skills required: A general ability to understand is-a relationships, and to understand the medical concepts that the Has definitional manifestation is currently applied to. An ability to edit content in the IHTSDO workbench, and to use the batch editing functional.
The elaboration phase has provided a number of reports, and a complete review of all concepts with stated use of Has definitional manifestation. Based on the review, a recommendation has been made for each concept, and other issues such as potential missed synonymy have been noted (See the doc of "has definitional manifestation," recommendations for update, and identification of concurrent issues. The index at the beginning of the document shows each of the concepts, and categorized the recommended solution for each concept. This document provides the stated and inferred relationships for each concept, so that those relationships can be conveniently reviewed.
In addition, a file suitable for importing into the list view of the workbench is provided (doc12906: https://csfe.aceworkspace.net/sf/go/doc12906?returnUrlKey=1440355469416), so that reviewers or implementers can easily focus on the desired concepts within the workbench. Doc12892 and doc12906 are both in alphabetical order to facilitate ease of review.
There is a place in Doc12892 for reviewer's to document their comments on each concept.
Implementation: A second modeler will review the changes to all the concepts with a relationship of Has definitional manifestation, and promote those that are satisfactorily modeled into the next SNOMED Release. Using the batch editing functions will allow quick conversion of has definitional manifestation to is-a relationship, if the proposed changes are accepted. I am happy to author these changes if a review indicates an acceptance of the approach, or identifies specific exclusions.
Preventing recurrence of problem: removing the Has definitional manifestation attribute from approved use, and replacing with appropriate is-a relationships will prevent recurrence of this problem.
Projection of remaining overall project resource requirements
Expected project resource requirement category
The project resource requirement is classed as SMALL – less than 1 person week. This project can be considered fast track, with minimal to no project management necessary.
Expected project impact and benefit
The project impact is MEDIUM – significant improvement to a minority but high profile use case
Indicative resource estimates for construction, transition and maintenance:
Implementation/Construction and transition phase: ~300 concepts to be given updated definitions
Maintenance phase:No new concepts are anticipated from the maintenance phase of removing Has definitional manifestation. There may be new concepts created as definitions are improved to replace the use of has definitional manifestation, such as addition of Angle closure obstruction (morphologic abnormality) to the morphology concepts, as suggested above.
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