1. Desiderata for Controlled Medical Vocabularies in the Twenty-First Century
James J. Cimino

2. Overview Define need for a controlled vocabulary Disclaimer
Desiderata I-XII
Future Directions
Predictions

3. Defining the Need for a Controlled Vocabulary
Application developers don't want to create or maintain them
Sharing data
Multipurpose
Maintenance

4. and references Disclaimer I searched the literature as best I could
I interpreted what I found as best I could
I tried to generalize and unify opinions, theories and assertions
I welcome additions/corrections to desiderata list
and references

5. Desideratum I: Content
Must seek to be provide breadth and depth
Atoms versus molecules
A formal methodology is needed
Structure must not limit size

6. Desideratum II: Concept Orientation
Concepts, not terms
One meaning (nonvague)
No more than one meaning (nonambiguous)
Higher-level ¹ ambiguous
One concept per meaning (nonredundant)
May have multiple context-dependent meanings

7. Desideratum III: Concept Permanence
Old concepts can't be deleted (Randy Miller's "emeritus terms")
Example: non-A-non-B hepatitis
Names can be changed as long as meaning doesn't change (retronyms)
Example: transvenous pacemaker

8. Desideratum IV: Nonsemantic Concept Identifiers
Don't use the name
Don't use a code that will run out of room
Don't use a hierarchical code
Meaningless integer (+/- check digit)

9. Desideratum V: Polyhierarchy
Needed for tree walking
Needed for inferencing
Needed for "essence"
Example: diseases of the liver which also involve the kidney

10. Desideratum VI: Formal Definitions
Support understanding
Support maintenance
Structured and controlled (not narrative)
Represented through relationships within the vocabulary
Defintional versus assertional knowledge
Additional effort minimal and will pay off

11. NEC

12. NEC

13. Desideratum VII: Reject "Not Elsewhere Classified"
Can never have a formal definition
Vocabulary changes induce semantic drift

14. Desideratum VIII: Multiple Granularities
Different levels for different purposes
Uncertainty is allowed, imprecision is not
We must be precise about our uncertainty

15. Desideratum IX: Multiple Consistent Views
Multiple views for multiple purposes
Must not lead to inconsistency

16. A C B D E F G H I

17. A A B C D E F H G I C B E F D
(G,H)
(I)

18. A A B C D E F H G I D E F G H I

19. A A B C D E F H G I C B D E F G H I

20. A A B C D E F H G I C B D E H G E H G F I

21. A A B C D E F H G I C B D E E F H G I

22. A A B C D E F H G I C B D E E F H G I

23. Desideratum X: Representing Context
Needed: a grammar to show usage
"What is sensible to say"
Consider modeling "events"

24. Controlled Medical Vocabulary
Definitional Knowledge
(how concepts define each other)
Pathologic
Function
Finding
Body Site
has-
site
is -a
is -a
is -a
Joint
Joint
Swelling
Swelling
is -a
has-
abnormality
Right Knee

25. Controlled Medical Vocabulary
Definitional Knowledge
Assertional Knowledge
(how concepts define each other)
(how concepts combine)
Pathologic
Function
Finding
Body Site
has-
site
is -a
modifies
Body Site
Finding
is -a
is -a
Joint
Joint
Swelling
Swelling
is -a
has-
abnormality
Right Knee

26. Controlled Medical Vocabulary
Definitional Knowledge
Assertional Knowledge
Contextual Knowledge
(how concepts define each other)
(how concepts combine)
(how concepts are used)
Pathologic
Function
Finding
Body Site
part-of
Finding
Physical Exam
modifies
has-
site
is -a
Body Site
Finding
is -a
is -a
part -of
Joint
Joint
Swelling
Swelling
Progress
Hospital
is -a
Note
Admission
has-
abnormality
Right Knee
part-of

27. Controlled Medical Vocabulary
Definitional Knowledge
Assertional Knowledge
Contextual Knowledge
(how concepts define each other)
(how concepts combine)
(how concepts are used)
Pathologic
Function
Finding
Body Site
part-of
Finding
Physical Exam
modifies
has-
site
is -a
Body Site
Finding
is -a
is -a
part -of
Joint
Joint
Swelling
Swelling
Progress
Hospital
is -a
Admission
has-
abnormality
Right Knee
Note
part-of
Hospital Admission
Progress Note
Physical Exam
Progress Note
Progress Note
[Joint Swelling [Right Knee]]
Electronic Medical Record

28. Desideratum XI: Graceful Evolution
Will always need to fix mistakes
Medical knowledge will grow
Bad reasons
Good reasons

29. Desideratum XI: Graceful Evolution
Bad reasons:
- Redundancy
- Major name changes
- Code reuse
- Changed codes

30. Desideratum XI: Graceful Evolution
Good reasons:
- Simple addition
- Refinement
- Precoordination
- Disambiguation
- Obsolescence
- Discovered redundancy
- Minor name changes

31. Desideratum XII: Recognize Redundancy
Synonyms are good
Redundant concepts are bad
Redundant expressions are inevitable
Example:
- Year 1: "Pneumonia", "Left Lower Lobe"
- Year 2: "Left Lower Lobe Pneumonia"

32. Desideratum XII: Recognize Redundancy
Pneumonia
Finding
Left Lower Lobe

33. Desideratum XII: Recognize Redundancy
Pneumonia
Finding
Left Lower Lobe
Left Lower Lobe Pneumonia

34. Desideratum XII: Recognize Redundancy
Pneumonia
Finding
Left Lower Lobe
Left Lower Lobe Pneumonia
is-a: Pneumonia

35. Desideratum XII: Recognize Redundancy
Pneumonia
Finding
Left Lower Lobe
Left Lower Lobe Pneumonia
is-a: Pneumonia
has-site: Left Lower Lobe

36. Desideratum XII: Recognize Redundancy
Pneumonia
Finding
Left Lower Lobe
Left Lower Lobe Pneumonia
is-a: Pneumonia
has-site: Left Lower Lobe
participates-in: Finding

37. Desideratum XII: Recognize Redundancy
Pneumonia
Finding
Left Lower Lobe
Left Lower Lobe Pneumonia
is-a: Pneumonia
has-site: Left Lower Lobe
participates-in: Finding

38. Future Directions Sharable vocabulary high quality multipurpose
Some desiderata are easy
Some are tractable
Some will require philosophical shifts

39. Easy Desiderata Nonsemantic concept identifiers Polyhierarchy
Multiple granularities
Multiple consistent views

40. Tractable Desiderata
Content
Recognize redundancy
Graceful evolution

41. Philosophical Shifts Concept orientation Concept permanence
Formal definitions
Reject "Not Elsewhere Classified"
Representing context

42. Predictions: What will Happen Soon?
Vocabularies will become concept-oriented
Nonsemantic identifiers
Semantic networks and multiple hierarchies
Standard notation (conceptual graphs?)
Maintenance will become tenable

43. Predictions: What will Take Longer?
Formal definitions
Multiple consistent views
Recognition of redundancy
But...
... implementation-specific solutions will be possible

44. Discussion Desiderata: too many or too few? Arguments: for and against
Citations: accurate? complete? -