UB. BARCELONA UB 18 faculties 2 university schools 8 affiliated centres UB faculties and centres.
ICBO Tutorial Introduction to Referent Tracking July 22, 2009 112 Norton Hall, UB North Campus
description
Transcript of ICBO Tutorial Introduction to Referent Tracking July 22, 2009 112 Norton Hall, UB North Campus
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
ICBO Tutorial
Introduction to Referent TrackingJuly 22, 2009
112 Norton Hall, UB North Campus
Werner CEUSTERSCenter of Excellence in Bioinformatics and Life Sciences
Ontology Research Group
University at Buffalo, NY, USA
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
?
Short personal history
1959 - 20091977
1989
1992
1998
2002
2004
2006
19931995
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
House keeping rules
• Feel free to ask clarifications at any time if you don’t understand something I just said (but not more than three slides earlier);
• Please do not interrupt me if you ‘just’ disagree with something I say until:– near beginning of the break,
– near end of the tutorial;
• Everybody in the audience may sleep except those students who are here for credit,– I’ll test them
– redundancy in my slides serves thus a purpose: to help them !
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Tutorial overview
• Setting the scene: a rough description of what Referent Tracking is and why it is important
• Review the basics of BFO relevant to RT
• The crucial distinction between representations and what they represent
• Implementation of RT systems
• Examples of use
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Prologue:
Referent Tracking:What and Why ?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
When did Weiss kill Senator Long ?time
Senator Long’s living
Weiss’ shooting of Long
Carl Weiss’ living
Bodyguards’shooting of Weiss
Weiss’s path. body reactions
Long’s pathological body reactions
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
What is Referent Tracking ?
• A paradigm under development since 2005,– based on Basic Formal Ontology,
– designed to keep track of relevant portions of reality and what is believed and communicated about them,
– enabling adequate use of realism-based ontologies, terminologies, thesauri, and vocabularies,
– originally conceived to track particulars on the side of the patient and his environment denoted in his EHR,
– but since then studied in and applied to a variety of domains,
– and now evolving towards tracking absolutely everything, not only particulars, but also universals.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
‘The spectrum of the Health Sciences’
http://www.uvm.edu/~ccts
?Turning data in knowledge
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Source of all data
Reality !
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Ultimate goal of Referent Tracking
A digital copy of the world
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Requirements for this digital copy
• R1: A faithful representation of reality• R2 … of everything that is digitally registered,
what is generic scientific theories
what is specific what individual entities exist and how they relate
• R3: … throughout reality’s entire history,• R4 … which is computable in order to …
… allow queries over the world’s past and present,
… make predictions,
… fill in gaps,
… identify mistakes,
...
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
In fact … the ultimate crystal ball
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The ‘binding’ wall
How to do it right ?
I don’t want a cartoon of the world
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Distinction between Ontologies and Information Models
• Ontologies should represent only what is always true about the entities of a domain (whether or not it is known to the person that reports),
• Information models (or data structures) should only represent the artifacts in which information is recorded.– Such information may be incomplete and error-laden
which needs to be accounted for in the information model rather than in the ontology itself.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Perfect ‘semantic’ tools are useless …
• … if data captured at the source is not of high quality
• Prevailing EHR systems don’t allow data to be stored at acceptable quality level:– No formal distinction between disorders and diagnosis– Messy nature of the notions of ‘problem’ and ‘concern’– No unique identification of the entities about which
data is stored• Unique IDs for data-elements cannot serve as unique IDs for
the entities denoted by these data-elements
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Terminologies for ‘unambiguous representation’ ???
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
If two different fracture codes are used in relation to
observations made on the same day for the same patient, do they
denote the same fracture ?
Terminologies for ‘unambiguous representation’ ???
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
If the same fracture code is used for the
same patient on different dates, can
these codes denote the same fracture?
Terminologies for ‘unambiguous representation’ ???
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
Can the same fracture code used in relationto two different patients denote the same fracture?
Terminologies for ‘unambiguous representation’ ???
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
Can two different tumor codes usedin relation to observations made on differentdates for the same patient, denote the same tumor ?
Terminologies for ‘unambiguous representation’ ???
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
Do three references of ‘hypertension’ for the same patient denote three times the same disease?
Terminologies for ‘unambiguous representation’ ???
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Terminologies for ‘unambiguous representation’ ???
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
Can the same type of location code used in relation to three different events denote the same location?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
How will we ever know ?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The problem in a nutshell
• Generic terms used to denote specific entities do not have enough referential capacity– Usually enough to convey that some specific entity is denoted,
– Not enough to be clear about which one in particular.
• For many ‘important’ entities, unique identifiers are used:– UPS parcels
– Patients in hospitals
– VINs on cars
– …
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
1. explicit reference to the concrete individual entities relevant to the accurate description of some portion of reality, ...
Fundamental goals of ‘our’ Referent Tracking
Ceusters W, Smith B. Strategies for Referent Tracking in Electronic Health Records. J Biomed Inform. 2006 Jun;39(3):362-78.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Method: numbers instead of words
Ceusters W, Smith B. Strategies for Referent Tracking in Electronic Health Records. J Biomed Inform. 2006 Jun;39(3):362-78.
– Introduce an Instance Unique Identifier (IUI) for each relevant particular (individual) entity
78
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
2. Use these identifiers in expressions using a language that acknowledges the structure of reality
e.g.: a yellow ball:
#1: the ball #2: #1’s yellow
Then not:
ball(#1) and yellow(#2) and hascolor(#1, #2)
But:
instance-of(#1, ball, since t)
instance-of(#2, yellow, since t)
inheres-in(#1, #2, since t)
Fundamental goals of ‘our’ Referent Tracking
Strong foundationsin realism-based
ontology
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
IUI-001
IUI-001
IUI-001
IUI-003
IUI-004
IUI-004
IUI-005
IUI-005
IUI-005
IUI-007
IUI-007
IUI-007
IUI-002
IUI-012
IUI-006
7 distinct disorders
Codes for ‘types’ AND identifiers for instances
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
‘Principles for Success’• Evolutionary change• Radical change:
• Principle 6: Architect Information and Workflow Systems to Accommodate Disruptive Change
» Organizations should architect health care IT for flexibility to support disruptive change rather than to optimize today’s ideas about health care.
• Principle 7: Archive Data for Subsequent Re-interpretation » Vendors of health care IT should provide the capability of
recording any data collected in their measured, uninterpreted, original form, archiving them as long as possible to enable subsequent retrospective views and analyses of those data.NOTE
Willam W. Stead and Herbert S. Lin, editors; Committee on Engaging the Computer Science Research Community in Health Care Informatics; National Research Council. Computational Technology for Effective Health Care: Immediate Steps and Strategic Directions (2009)
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
‘Principles for Success’ (continued)
• The NOTE:– ‘See, for example, Werner Ceusters and Barry Smith,
“Strategies for Referent Tracking in Electronic Health Records” Journal of Biomedical Informatics 39(3):362-378, June 2006.’
Willam W. Stead and Herbert S. Lin, editors; Committee on Engaging the Computer Science Research Community in Health Care Informatics; National Research Council. Computational Technology for Effective Health Care: Immediate Steps and Strategic Directions (2009)
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Words, words, words, …
• A paradigm under development since 2005,– based on Basic Formal Ontology,
– designed to keep track of relevant portions of reality and what is believed and communicated about them,
– enabling adequate use of realism-based ontologies, terminologies, thesauri, and vocabularies,
– originally conceived to track particulars on the side of the patient and his environment denoted in his EHR,
– but since then studied in and applied to a variety of domains,
– and now evolving towards tracking absolutely everything, not only particulars, but also universals.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Therefore:Part 1: the Basics
No (good) Referent Trackingwithout (good) Realism-based Ontology
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
1. There is an external reality which is ‘objectively’ the way it is;
2. That reality is accessible to us;
3. We build in our brains cognitive representations of reality;
4. We communicate with others about what is there, and what we believe there is there.
Basic axioms
Smith B, Kusnierczyk W, Schober D, Ceusters W. Towards a Reference Terminology for Ontology Research and Development in the Biomedical Domain. Proceedings of KR-MED 2006, Biomedical Ontology in Action, November 8, 2006, Baltimore MD, USA
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
What is there ?
The parts of BFO relevant for Referent Tracking (1)
some particular
some universal
instanceOf …
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The shift envisioned• From:
– ‘this man is a 40 year old patient with a stomach tumor’• To (something like):
– ‘this-1 on which depend this-2 and this-3 has this-4’, where• this-1 instanceOf human being …• this-2 instanceOf age-of-40-years …• this-2 qualityOf this-1 …• this-3 instanceOf patient-role …• this-3 roleOf this-1 …• this-4 instanceOf tumor …• this-4 partOf this-5 …• this-5 instanceOf stomach …• this-5 partOf this-1 …• …
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The shift envisioned• From:
– ‘this man is a 40 year old patient with a stomach tumor’• To (something like):
– ‘this-1 on which depend this-2 and this-3 has this-4’, where• this-1 instanceOf human being …• this-2 instanceOf age-of-40-years …• this-2 qualityOf this-1 …• this-3 instanceOf patient-role …• this-3 roleOf this-1 …• this-4 instanceOf tumor …• this-4 partOf this-5 …• this-5 instanceOf stomach …• this-5 partOf this-1 …• …
denotators for particulars
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The shift envisioned• From:
– ‘this man is a 40 year old patient with a stomach tumor’• To (something like):
– ‘this-1 on which depend this-2 and this-3 has this-4’, where• this-1 instanceOf human being …• this-2 instanceOf age-of-40-years …• this-2 qualityOf this-1 …• this-3 instanceOf patient-role …• this-3 roleOf this-1 …• this-4 instanceOf tumor …• this-4 partOf this-5 …• this-5 instanceOf stomach …• this-5 partOf this-1 …• …
denotators for appropriate relations
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The shift envisioned• From:
– ‘this man is a 40 year old patient with a stomach tumor’• To (something like):
– ‘this-1 on which depend this-2 and this-3 has this-4’, where• this-1 instanceOf human being …• this-2 instanceOf age-of-40-years …• this-2 qualityOf this-1 …• this-3 instanceOf patient-role …• this-3 roleOf this-1 …• this-4 instanceOf tumor …• this-4 partOf this-5 …• this-5 instanceOf stomach …• this-5 partOf this-1 …• …
denotators for universals or particulars
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The shift envisioned• From:
– ‘this man is a 40 year old patient with a stomach tumor’• To (something like):
– ‘this-1 on which depend this-2 and this-3 has this-4’, where• this-1 instanceOf human being …• this-2 instanceOf age-of-40-years …• this-2 qualityOf this-1 …• this-3 instanceOf patient-role …• this-3 roleOf this-1 …• this-4 instanceOf tumor …• this-4 partOf this-5 …• this-5 instanceOf stomach …• this-5 partOf this-1 …• …
something I’ll come to later
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Relevance: the way RT-compatible systems ought to interact with representations of generic portions of reality
instance-of at t
#105caused
by
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
What is there ?
The parts of BFO relevant for Referent Tracking (1)
some particular
some universal
instanceOf …
entities on either site
cannot ‘cross’ this boundary
every particular is
an instance of at least one universal
for every universal
there is or has been at least one instance
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
My terminology (1)
• ‘entity’: – denotes either a universal or a particular
• ‘instance’: – denotes a particular to which I refer in the context of
some universal:• If A instanceOf B … then
– ‘B is a universal’
– ‘A is a particular’
– ‘A is an instance’
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
My terminology (1)
• ‘entity’: – denotes either a universal or a particular
• ‘instance’: – denotes a particular to which I refer in the context of
some universal:• If A instanceOf B … then
– ‘B is a universal’
– ‘A is a particular’
– ‘A is an instance’
do not denote isa !!!
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
My terminology (2)• ‘entity’:
– denotes either a universal or a particular• ‘instance’:
– denotes a particular to which I refer in the context of some universal:
• If A instanceOf B … then– ‘B is a universal’– ‘A is a particular’– ‘A is an instance’
• ‘denotes’: (roughly for now) a relation between an entity and a representational construct (sign, symbol, term,…) such that the latter stands for the former in descriptions about reality.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
What is there ?
The parts of BFO relevant for Referent Tracking (1)
some particular
some universal
instanceOf …
?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
instanceOf
What is there ?
The parts of BFO relevant for Referent Tracking (2)
some continuantparticular
some continuantuniversal
instanceOf at t
some occurrentparticular
some occurrentuniversal
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
instanceOf at t2 instanceOf at t1
instanceOf at t2
The importance of temporal indexing
this-1’s stomach
benigntumor
instanceOf at t1
this-4
malignanttumor
partOf at t1
stomach
partOf at t2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Use of the CEN Time Standard for HIT
New York State Center of Excellence in Bioinformatics & Life Sciences
R T UThings do change indeed
child adult
caterpillar butterfly
t
person
animal
Livingcreature
vampire
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The continuants relevant for Referent Tracking
spatial region
independentcontinuant
genericallydependentcontinuant
specificallydependentcontinuant
dependentcontinuant
information content entity
material object
site
ontologyterminology…
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
My terminology (3)
• ‘ontology’: – denotes an information artifact whose representational
elements denote universals - either directly or indirectly - and whose structure is intended to mimic the structure of reality
• ‘terminology’: – denotes an information artifact whose representational
elements are terms from some language that are defined in terms of other terms and that are structured independent of the structure of reality
New York State Center of Excellence in Bioinformatics & Life Sciences
R T UMeSH-2008: give me 666 reasons why this is not an ontology under my terminology.
Wolfram Syndrome
All MeSH Categories
Diseases Category
Nervous System Diseases
Cranial Nerve Diseases
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies,Hereditary
NeurodegenerativeDiseases
HeredodegenerativeDisorders,
Nervous System
Eye Diseases
Eye Diseases, Hereditary
Optic Nerve Diseases
Male UrogenitalDiseases
Urologic Diseases
Kidney Diseases
Diabetes Insipidus
Female Urogenital Diseasesand Pregnancy Complications
Female Urogenital Diseases
New York State Center of Excellence in Bioinformatics & Life Sciences
R T UWhat would it mean if used in the context of a patient ?
Wolfram Syndrome
All MeSH Categories
Diseases Category
Nervous System Diseases
Cranial Nerve Diseases
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies,Hereditary
has
NeurodegenerativeDiseases
HeredodegenerativeDisorders,
Nervous System
Eye Diseases
Eye Diseases, Hereditary
Optic Nerve Diseases
Female Urogenital Diseasesand Pregnancy Complications
Female Urogenital Diseases
Male UrogenitalDiseases
Urologic Diseases
Kidney Diseases
Diabetes Insipidus
???
…
has
???
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Snomed CT (July 2007):Why not an ontology ?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Cause: coding / classification confusion
‘A patient with a fractured nasal bone’
‘A patient with a broken nose’
‘A patient with a fracture of the nose’
means the same thing as
means the same thing as
note: doesn’t say what it means
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
A patient with a fractured nasal bone
A patient with a broken nose
A patient with a fracture of the nose
=
=
Cause: coding / classification confusion
A patient with a fractured nasal bone
A patient with a broken nose
A patient with a fracture of the nose
=
=
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The occurrents relevant for Referent Tracking
spatiotemporal region
contiguoustemporal
regionhistory
process
time instant
timeinterval
temporal region
scatteredtemporal
region
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Sorts of relations
U1 U2
P1 P2
UtoU: isa, partOf(UU), …
PtoU: instanceOf,
lacks, denotes(PU)…
PtoP: partOf, denotes, …
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
t t tinstanceOf
Putting the pieces together: what is there to track?
materialobject
spacetimeregion
me some temporal
region
my life
my 4D STR
some spatialregion
historyspatialregion
temporalregion
dependent continuant
some quality located-in at t
… at t
partic
ipan
tOf a
t t
occupies
projectsOnprojectsOn
at t
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Part 2:Let’s get more serious about
‘representation’(in general)
Beware !!!
Colors don’t really matter
but in what follows
I used them in different ways than before.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
‘Marriage’
marriage ofBill and Hillary
BillClinton Hillary
Clinton
humanbeing
marriage
husbandInspouseIn
husbandOf
spouseOf
instanceOf
instanceOf
instanceOf
createdBy…
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Time and the Bill-Hillary marriage:what about the various some t’s ?
marriage ofBill and Hillary
BillClinton Hillary
Clinton
humanbeing
marriage
husbandInspouseIn
husbandOf
spouseOf
instanceOf
instanceOf
instanceOf
createdBy…exists at some t
exists at some t
exists at some t
exists at some t
exists at some t
exists at some t
at some t
at some t
at some t
at some t
at some t at some t
at some t
at some t
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Representation of the Bill-Hillary marriage
‘marriage ofBill and Hillary’
‘BillClinton’ ‘Hillary
Clinton’
‘humanbeing’
‘marriage’
husbandInspouseIn
husbandOf
spouseOf
instanceOf
instanceOf
instanceOf
createdBy…exists at some t
exists at some t
exists at some t
exists at some t
exists at some t
exists at some t
at some t
at some t
at some t
at some t
at some t at some t
at some t
at some t
‘ ,
‘ ,‘ ,
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Representation and what it is about
? at some t
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
instanceOf
instanceOf
Representations as first order entities (1)
?2
?1?3
isa
isa
at some t
at some t
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Representations as first order entities (2)
instanceOf
instanceOf
at some t
at some t
ontology
about
aboutL1 R
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Two sorts of representations
L1R
L2 L3
beliefssymbolizations
‘about’
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Three levels of reality
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Diseases : L1 Diagnoses L2/L3
Diagnosis:• A configuration of
representational units;• Believed to mirror the
person’s disease;• Believed to mirror the
disease’s cause;• Refers to the universal
of which the disease is believed to be an instance.
#56John’s
Pneumonia
#78John’s portionof pneumococs
Pneumococcal pneumonia
causedby
Instance-of at t1
Disease
isa
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Some motivations and consequences (1)
• The same diagnosis can be expressed in various forms.
#56#78
Pneumococcal pneumonia
causedby
Instance-of at t1
Instance-of at t1
#56 #78
Pneumonia
causedby
Portion of pneumococs
Instance-of at t1
Disease
isa
isa
causedby
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Some motivations and consequences (2)
• A diagnosis can be of level 2 or level 3, i.e. either in the mind of a cognitive agent, or in some physical form.
• Allows for a clean interpretation of assertions of the sort ‘these patients have the same diagnosis’: The configuration of representational units is such
that the parts which do not refer to the particulars related to the respective patients, refer to the same portion of reality.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Distinct but similar diagnoses
#56John’s
Pneumonia
#78John’s portionof pneumococs
Pneumococcal pneumonia
causedby
#956Bob’s
pneumonia
#2087Bob’s portion
of pneumococs
causedby
Instance-of at t1 Instance-of at t2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Some motivations and consequences (3)
• Allows evenly clean interpretations for the wealth of ‘modified’ diagnoses:– With respect to the author of the representation:
• ‘nursing diagnosis’, ‘referral diagnosis’
– When created:• ‘post-operative diagnosis’, ‘admitting diagnosis’, ‘final
diagnosis’
– Degree of the belief:• ‘uncertain diagnosis’, ‘preliminary diagnosis’
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U Important to differentiate betweenLexical, semantic and ontological relations
‘gall’
‘gallbladder’
‘urinarybladder’
‘urine’
‘urinary bladderinflammation’
‘gallbladderinflammation’
‘inflammation’
gall
gall bladderbladder
inflammation
urine
cystitis
biliary cystitis
gallbladderinflammation urinary
bladder
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The three levels applied to diabetes management
1.First-order
reality
2. Beliefs (knowledge)
Generic Specific
DIAGNOSIS
INDICATION
my doctor’swork plan
my doctor’sdiagnosis
MOLECULE
PERSON
DISEASE
PATHOLOGICALSTRUCTURE
PORTION OFINSULIN
DRUG
me
my blood glucose level
my NIDDM
my doctor my doctor’s computer
3. Representation ‘person’ ‘drug’ ‘insulin’ ‘W. Ceusters’ ‘my sugar’
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Referent TrackingBasic Formal Ontology
The three levels applied to C2
1.First-order
reality
2. Beliefs (knowledge)
Generic Specific
GOAL
ATTACK STRATEGY
John Doe’s plan SACEUR’s
strategy
TANK
PERSON
CORPSE
building
SOLDIER
WEAPON
John Doe’s
platoon
Tank with serial numberTH1280A44V
John Doe’s gun
Private John Doe
3. Representation ‘weapon’ ‘person’ ‘tank’ ‘John Doe’ ‘Enola Gay’
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Terminology is too reductionistWhat concepts do we need?
How do we name concepts properly?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
And often confuse L3 with L1
‘Head’ in the NCIT
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The power of realism in ontology design
Reality as benchmark !
1. Is the scientific ‘state of the art’consistent with biomedical reality ?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The power of realism in ontology design
Reality as benchmark !
2. Is my doctor’s knowledge up to date?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The power of realism in ontology design
Reality as benchmark !
3. Does my doctor have an accurateassessment of my health status?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The power of realism in ontology design
Reality as benchmark !4. Is our terminology rich enough
to communicate about all three levels?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
The power of realism in ontology design
Reality as benchmark !
5. How can we use case studies betterto advance the state of the art?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Central mechanism in RT: ‘denotation’• Something like a marriage between an L3-entity and an L1-entity
marriage ofBill and Hillary
BillClinton
HillaryClinton
husbandIn spouseIn
husbandOf
spouseOf
createdBy…
this particulardenotation
‘This greensquare’
hasReference
referentOf
denotes
denotedBy
createdBy…
referenceOf
hasReferent
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Denotation and time: some axioms
this particulardenotation
‘This greensquare’
hasReferenceat t1 referentOf
at t1
denotes at t1
denotedBy at t1
createdBy…
S1
referenceOfat t1
hasReferentat t1
• D cannot exist if S or R never existed
• D can continue to exist even when S does not exist anymore
• the existence of R and S are not sufficient for D to exist
• D ceases to exist when R ceases to exist
• …
D
R S
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Denotators with distinct ‘meanings’
this particulardenotation
‘This greensquare’
hasReferenceat t1
denotes at t1
createdBy at …
S1
hasReferentat t1
A1this otherparticulardenotation
S2
createdBy at …A2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Changes in reality
this particulardenotation
‘This greensquare’
hasReferenceat t2
denotes at t2
createdBy at …
S1
hasReferentat t2
A1this otherparticulardenotation
S2
createdBy at …A2
S1
(imagine S1 turned red, yet still being that very same square on the very same spot)
• ‘at’ as defined in CEN:TSHSP
• thus t2 is the ‘coContinuation’ of t1
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Changes in representations
representationOfat t
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Reality and representations
representationOfat t1
representationOfat t2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Reality and representations
representationOfat t1
representationOfat t2
gain in understanding
New York State Center of Excellence in Bioinformatics & Life Sciences
R T UChanges in SNOMED
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Reality and representation: both in evolution
IUI-#3
O-#2
O-#1
tU1
U2
p3Reality
Repr.O-#0
= “denotes” = what constitutes the meaning of representational units …. Therefore: O-#0 is meaningless
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Reality versus representations, both in evolution
tU1
U2
p3
IUI-#3
O-#2
O-#1
L1
L2O-#0
Several types of mismatches between reality and representations
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Mistakes, discoveries, being lucky, having bad luck
tU1
U2
p3
IUI-#3
O-#2
O-#1
O-#0
Mistakes
L1
L2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Mistakes, discoveries, being lucky, having bad luck
tU1
U2
p3
IUI-#3
O-#2
O-#1
O-#0
discoveries
L1
L2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Mistakes, discoveries, being lucky, having bad luck
tU1
U2
p3
IUI-#3
O-#2
O-#1
O-#0
L1
L2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Mistakes, discoveries, being lucky, having bad luck
tU1
U2
p3
IUI-#3
O-#2
O-#1
O-#0
L1
L2
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Changes over time
• In John Smith’s Electronic Health Record:– At t1: “male” at t2: “female”
• What are the possibilities ?• Change in reality:
• transgender surgery• change in legal self-identification
• Change in understanding: it was female from the very beginning but interpreted wrongly
• Correction of data entry mistake: it was understood as male, but wrongly transcribed
• (Change in word meaning)
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Part 3:Representation inReferent Tracking
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Representations in ReferentTracking
Portion of Reality
Entity
ParticularUniversal
Defined class
Representation
Non-referringparticular
Denotator
IUI
RT-tuplecorresponds-to
Configuration represents
CUI UUI
denotes
denotes
is about
Representational unit
denotes
contains
class
Extension
……
…
Relation
RUI
denotes
Information content ent.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Extensions – Defined Classes
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Further distinctions amongst PORs in RT
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Referent Tracking System
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Architecture of aReferent Tracking System (RTS)
• RTS: system in which all statements referring to particulars contain the IUIs for those particulars judged to be relevant.
• Ideally set up as broad as possible:– some metrics:
• % of particulars referred to by means of IUI• % of HCs active in a region
– Geographic region– functional region: defined by contacts amongst patients
• % of patients referred to within a region
• Services:– IUI generator– IUI repository: statements about assignments and reservations– Referent Tracking ‘Database’ (RTDB): index (LSID) to statements relating
instances to instances and classes
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Referent Tracking System Components
• Referent Tracking SoftwareManipulation of assertions about L1
• Referent Tracking Datastore:• IUI repository
A collection of globally unique singular identifiers denoting particulars
• Referent Tracking Database
A collection of assertions about the particulars denoted in the IUI repository
Manzoor S, Ceusters W, Rudnicki R. Implementation of a Referent Tracking System. International Journal of Healthcare Information Systems and Informatics 2007;2(4):41-58.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Essentials of Referent Tracking • Generation of universally unique identifiers;• deciding what particulars should receive a IUI;• finding out whether or not a particular has already been
assigned a IUI (each particular should receive maximally one IUI);
• using IUIs in the EHR, i.e. issues concerning the syntax and semantics of statements containing IUIs;
• determining the truth values of statements in which IUIs are used;
• correcting errors in the assignment of IUIs.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Elementary RTS tuple types (1.0)Template Name Abstract Syntax RDFS class
Description A-template Ai = < IUIp, IUIa, tap> ParticularRepresentation Captures the assignment of an IUIp to a particular at time tap by the particular referred to by author IUIa. PtoP – template Ri = <IUIa, ta, r, o, P, tr> PtoP The particular referred to by author IUIa asserts at time ta that the relationship r from ontology o obtains between the particulars referred to in the set of IUIs P at time tr. PtoU-template Ui = <IUIa, ta, inst, o, IUIp, u, tr> PtoU The particular referred to by author IUIa asserts at time ta that the particular referred to by IUIp instantiate inst relation from ontology o with the universal u at time tr. PtoCo-template Coi = <IUIa, ta, cbs, IUIp, co, tr> PtoCo The particular referred to by author IUIa asserts at time ta that the particular referred to by IUIp is annotated by concept code co from terminology system cbs at time tr. PtoU—template U
i = <IUIa, ta, r, o, IUIp, u, tr> PtoLackU The particular referred to by author IUIa asserts at time ta that the relation r of ontology o does not obtain at time tr between the particular referred to by IUIp and any of the instances of the class u at time tr PtoN-template Ni=< IUIa, ta, ntj, ni, IUIp, tr> PtoN The particular referred to by author IUIa asserts at time ta that ni is the name of the nametype ntj assigned to the particular referred to by IUIp at tr. Meta-template Di = <IUId, Xi, td> Publication of a description of a portion of reality in the RTS where IUId is the IUI of the entity registering Xi in the system, Xi is the information-unit in question (in the form of any other template above), and td is a reference to the time the registration was carried out.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
IUI assignment
• = an act carried out by the first ‘cognitive agent’ feeling the need to acknowledge the existence of a particular it has information about by labeling it with a UUID.
• ‘cognitive agent’:– A person;– An organization;– A device or software agent, e.g.
• Bank note printer,• Image analysis software.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Criteria for IUI assignment (1)
• The particular’s existence must be determined:– Easy for persons in front of you, body parts, ...– Easy for ‘planned acts’: they do not exist before the plan is
executed !• Only the plan exists and possibly the statements made about the
future execution of the plan
– More difficult: subjective symptoms• But the statements the patient makes about them do exist !
– However: • no need to know what the particular exactly is, i.e. which universal
it instantiates• Not always a need to be able to point to it precisely
– One bee out of a particular swarm that stung the patient, one pain out of a series of pain attacks that made the patient worried
– But: this is not a matter of choice, not ‘any’ out of ...
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Criteria for IUI assignment (2)
• May not have already been assigned a IUI.• Morning star and evening star
• Himalaya
• Multiple sclerosis
• It must be relevant to do so:• Personal decision, (scientific) community guideline, ...
• Possibilities offered by the EHR system
• If a IUI has been assigned by somebody, everybody else making statements about the particular should use it
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Assertion of assignments
• IUI assignment is an act of which the execution has to be asserted in the IUI-repository:– Di = <IUId, Ai, td> (1.0)
• IUId IUI of the registering agent
• Ai the assertion of the assignment < IUIp, IUIa, tap>
» IUIa IUI of the author of the assertion
» IUIp IUI of the particular
» tap time of the assignment
• td time of registering Ai in the IUI-repository
• Neither td or tap give any information about when # IUIp started to
exist ! That might be asserted in statements providing information
about # IUIp .
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
D-tuples 2.0: dealing with mistakes
Validity and availability of information
Tuple name Attributes Description
D-tuple < IUId, IUIA, td, E, C, S >
The particular referred to by IUId registers the particular referred to by IUIA
(the IUI for the corresponding A-tuple) at time td. E is either the symbol ‘I’
(for insertion) or any of the error type symbols as defined in [1]. C is the reason for inserting the A-tuple. S is a list of IUIs denoting the tuples, if any, that replace the retired one.
A D-tuple is inserted: (1) to resolve mistakes in RTS, and (2) whenever a new tuple other than a D-tuple is inserted in the RTS.
[1] Ceusters W. Dealing with Mistakes in a Referent Tracking System. In: Hornsby KS (eds.) Proceedings of Ontology for the Intelligence Community 2007 (OIC-2007), Columbia MA, 28-29 November 2007;:5-8.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Types of matches and mismatches
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Management of the IUI-repository
• Adequate safety and security provisions– Access authorisation, control, read/write, ...– Pseudonymisation
• Deletionless but facilities for correcting mistakes.
• Registration of assertion ASAP after IUI assignment
• (virtual, e.g. LSID) central management with adequate search facilities.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
PtoP statements - particular to particular • ordered sextuples of the form Ri = <IUIa, ta, r, o, P, tr>
IUIa is the IUI of the author of the statement,
ta a reference to the time when the statement is made,
r a reference to a relationship (available in o) obtaining between the particulars referred to in P,o a reference to the ontology from which r is taken,P an ordered list of IUIs referring to the particulars between which
r obtains, and,tr a reference to the time at which the relationship obtains.
• P contains as much IUIs as required by the arity of r. In most cases, P will be an ordered pair such that r obtains between the particular represented by the first IUI and the one referred to by the second IUI. • As with A statements, these statements must also be accompanied by a meta-statement capturing when the sextuple became available to the referent tracking system.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
PtoU statements – particular to universal
Ui = <IUIa, ta, inst, o, IUIp, u, tr>
IUIa is the IUI of the author of the statement,
ta a reference to the time when the statement is made,
inst a reference to an instance relationship available in o obtaining between p and cl,
o a reference to the ontology from which inst and u are taken,
IUIp the IUI referring to the particular whose inst
relationship with u is asserted,u the universal in o to which p enjoys the inst relationship, and,tr a reference to the time at which the relationship obtains.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
PtoN-statements
Ni=< IUIa, ta, ntj, ni, IUIp, tr, IUIc>
• The person referred to by IUIa asserts at time ta
that ni is the name of the nametype ntj that
designates in the context IUIC in the real world the particular referred to by IUIp at tr. This template
will further be referred to as PtoN template.
• Would assert that “Werner” is my first name, and “Ceusters” is my last name.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
U--tuples: “negative findings”
Relation type
Type of Negative Finding Examples %
C1 <p, u> * A particular is not related in a specific way to any instance of a universal at some given time
he denies abdominal pain; no alcohol abuse; no hepatosplenomegaly; he has no children, without any cyanosis
85.4
C2 <p, u> A particular is not the instance of a given class at some given time
which ruled out primary hyperaldosteronism, nontender, in no apparent distress, Romberg sign was absent , no palpable lymph nodes
12.4
C3 <p, p> A particular is not related to another particular in a specific way at some given time
this record is not available to me; it is not the intense edema she had before; he has not identified any association with meals.
2.2
* ‘p’ ranges over particulars, ‘u’ over universals
U
i = <IUIa, ta, r, o, IUIp, u, tr> The particular referred to by IUIa asserts at time ta that the relation r
of ontology o does not obtain at time tr between the particular
referred to by IUIp and any of the instances of the universal u at
time tr
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
PtoCO statements: particular to concept code
Coi = <IUIa, ta, cbs, IUIp, co, tr>
IUIa is the IUI of the author of the statement,
ta a reference to the time when the statement is made,
cbs a reference to the concept-based system from which co is taken,
IUIp the IUI referring to the particular which the author
associates with co,co the concept-code in cbs which the author associates with p, and,tr a reference to the time at which the author considers the
association appropriate,
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Interpretation of PtoCO statements
• must be interpreted as simple indexes to terms in a dictionary.
• All that such a statement tells us, is that within the linguistic and scientific community in which cbs is used, the terms associated with co may - i.e. are acceptable to - be used to denote p in their determinative version.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
A SNOMED-CT example • <IUI-0945, 18/04/2005, SNOMED-CT v0301, IUI-1921,
367720001, forever>• #IUI-0945: author of the statement• #IUI-1921: the left testicle of patient #IUI-78127• 367720001: the SNOMED concept-code to which “left testis” is (in
SNOMED) attached as term
• So we can denote #IUI-1921 by means of• that left testis• that entire left testis• that testicle, that male gonad, that testis• that genital structure• that physical anatomical entity• BUT NOT: that SNOMED-CT concept
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Referent Tracking System Environment
Referent Tracking Server (Peers)
Referent Tracking System
Referent Tracking Data Access Server
ExternalInformationSystem
Reasoning Server
Referent Tracking System User Interface(s)
UserUser
Terminology Server
Vocabulary Thesaurus Nomenclature Concept SystemRealism-basedOntology
or ororor
Referent Tracking Data Store
RTS ProxyPeer
RTSServer ProxyPeer
Internal Ontology
IUI Component
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Networks of Referent Tracking systems
RTS ProxyPeer
RTSServer ProxyPeer
Referent Tracking Server C2
Referent Tracking Server C3
…
RTS ProxyPeer
RTSServer ProxyPeer
Referent Tracking Server B2 Referent Tracking Server B3
…
RTS ProxyPeer
RTSServer ProxyPeer
Referent Tracking Server A2
Referent Tracking Server A3
…
Information System A Information System C
Information System B
Referent Tracking Server B1
Referent Tracking Server C1
Referent Tracking System C
Referent Tracking Server A1
Referent Tracking System A
Referent Tracking System B
RTS ProxyPeer
RTSServer ProxyPeer
Referent Tracking Server C2
Referent Tracking Server C3
…
RTS ProxyPeer
RTSServer ProxyPeer
Referent Tracking Server B2 Referent Tracking Server B3
…
RTS ProxyPeer
RTSServer ProxyPeer
Referent Tracking Server A2
Referent Tracking Server A3
…
Information System A Information System C
Information System B
Referent Tracking Server B1
Referent Tracking Server C1
Referent Tracking System C
Referent Tracking Server A1
Referent Tracking System A
Referent Tracking System B
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Data store
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Pragmatics of IUIs in EHRs • IUI assignment requires an additional effort• In principle no difference qua (or just a little bit more) effort
compared to using directly codes from concept-based systems– A search for concept-codes is replaced by a search for the appropriate
IUI using exactly the same mechanisms• Browsing• Code-finder software• Auto-coding software (CLEF NLP software Andrea Setzer)
– With that IUI comes a wealth of already registered information– If for the same patient different IUIs apply, the user must make the
decision which one is the one under scrutiny, or whether it is again a new instance
• A transfert or reference mechanism makes the statements visible through the RTDB
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
< PtSession > < PtsInfo m_ PtL astName ="John" m_PtDOB ="01/01/1985 /> < PtVisitInfo m_PtTimeIn ="02/27/2007 02:44 PM"> … < Level1 m_TemplateName ="Fracture - femur" m_TemplateGUID="{13792543 - C66D - 4B47 - A055 - CEA1A0A53C87} > < Item m_Text=”Examination”> …. < Level4 m _TemplateName =”
” >
< Item m_Text=" strength of left foot plantar flexion is 3/5; strength of left foot dorsi flexion is 2/5 ; "
m_GUID="{65B26952 - 81A1 - 4291 - B26F - 344EBFD2B56B}" / > </ Level4 > …… </ Item > </ Level1 > < / PtVisitInfo > < / PtSessi on >
MedtuityEMR Patient’s Encounter Document
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Decomposing EHR Statements into Particulars • Information units in EHR statements
are phrases.• For each phrase, e.g. strength of left
foot plantar flexion is 3/5, a list of templates containing references to defined classes and universals are stored in a database called Terms Configuration Database, describing the correct decomposition
• The decomposition of a phrase is based on our work described elsewhere*.
*Rudnicki R., Ceusters W., Manzoor S and Smith B. What Particulars are Referred to in EHR Data? A Case Study in Integrating Referent Tracking into an Electronic Health Record Application. Accepted for American Medical Informatics Association 2007 Annual Symposium (AMIA 2007) Proceedings, Chicago IL, 10-14 November 2007.
U1: The universal Person
DC1: MMT scale data value 3.
DC2: defined class whose members are a persons’ left foot plantar muscle group
DC3: defined class whose members are the disposition of persons’ right foot plantar muscle groups to attain a certain performance on the heel-rise test
DC4: defined class of persons who perform members of DC5
DC5: defined class whose members are acts of assessing the performance of heel-rise tests.
DC6: defined class whose members are acts of left foot heel test carried out by a person.
U2: clinical encounter
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Decomposing EHR Statements into Particulars
• Middleware component iterates through the XML document to retrieve the phrases.– For each phrase, e.g. strength
of left foot plantar flexion is 3/5, middleware contacts with Terms Configuration Database to retreive the list of templates containing references to defined classes and universals .
U1: The universal Person
DC1: MMT scale data value 3.
DC2: defined class whose members are a persons’ left foot plantar muscle group
DC3: defined class whose members are the disposition of persons’ right foot plantar muscle groups to attain a certain performance on the heel-rise test
DC4: defined class of persons who perform members of DC5
DC5: defined class whose members are acts of assessing the performance of heel-rise tests.
DC6: defined class whose members are acts of left foot heel test carried out by a person.
U2: clinical encounter
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
RTS example graph
rts:IUI-1 rts:IUI-1012/01/2006
rts:pton_1
Name
John
12/01/2006
12/01/2006
rts:IUI-3
rts:ptou_4
rts:r//OBO_REL/instance_of
rts:u//FMA/Left+forearm
rts:r//OBO_REL/has_part
rts:ptop_5
12/01/2006
12/01/2006
rts:plist_6
12/01/2006
12/01/2006
12/01/2006
rts:PtoN
rts:PoPrts:PoU
rts:ParticularRepresentation
rdf:type
rts:nt
rts:n
rts:tr
rts:ta
rts:iup
rts:tap
rts:iuiardf:_1
rdf:type
rts:tap
rts:iuiprts:u
rts:inst
rtsta
rtstr
rdf:typerdf:type
rts:PListrdf:type
rts:iuiprts:Prts:ta
rts:tr
rts:r
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Part 4:Applications & Projects
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
eyeGENE (June 2008 - …)
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Ontology for Risks Against Patient Safety
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Representing particular adverse event cases
• Is the generic representation of the portion of reality adequate enough for the description of particular cases?
• Example: a patient – born at time t0
– undergoing anti-inflammatory treatment and physiotherapy since t2
– for an arthrosis present since t1
– develops a stomach ulcer at t3. 133
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Anti-inflammatory treatment with ulcer developmentIUI Description of particular Properties
#1 the patient who is treated #1 member_of C1 since t2
#2 #1’s treatment #2 instance_of C3 #2 has_participant #1 since t2
#2 has_agent #3 since t2
#3 the physician responsible for #2 #3 member_of C4 since t2
#4 #1’s arthrosis #4 member_of C5 since t1
#5 #1’s anti-inflammatory treatment #5 part_of #2 #5 member_of C2 since t3
#6 #1’s physiotherapy #6 part_of #2
#7 #1’s stomach #7 member_of C6 since t2
#8 #7’s structure integrity #8 instance_of C8 since t0 #8 inheres_in #7 since t0
#9 #1’s stomach ulcer #9 part_of #7 since t3
#10 coming into existence of #9 #10 has_participant #9 at t3
#11 change brought about by #9 #11 has_agent #9 since t3 #11 has_participant #8
since t3
#11 instance_of C10 (harm) at t3
#12 noticing the presence of #9 #12 has_participant #9 at t3+x #12 has_agent #3 at t3+x
#13 cognitive representation in #3 about #9 #13 is_about #9 since t3+x
134
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Time line and dependencies (1)
• At t0, the patient is born, and since that time, his stomach is part of him and a structure integrity (C8) inheres in it:– #1 instance-of person since t0
– #7 part-of #1 since t0
– #8 instance_of C8 since t0
– #8 inheres_in #7 since t0
#7’s structure integrity#8
#1’s stomach#7
the patient (#1) who is treated#1
t0 t1 t2 t3
structure integrity C8
135
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Time line and dependencies (2)
#7’s structure integrity#8
#1’s stomach#7
#1’s arthrosis#4
the patient who is treated#1
t0 t1 t2 t3
structure integrity C8
• At t1, the patient acquires arthrosis:– #4 member_of C5 since t1
– #4 inheres_in #1 since t1
underlying disease C5
136
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Time line and dependencies (3)
#7’s structure integrity#8
#1’s stomach#7
#1’s arthrosis#4
the physician responsible for #2#3
#1’s physiotherapy#6
#1’s anti-inflammatory treatment #5
#1’s treatment#2
the patient who is treated#1
t0 t1 t2 t3
subject of care C1
involved structure C6
care giver C4
act of care C3
underlying disease C5
structure integrity C8
• At t2, the patient consults #3 who starts treatment. It is then that the patient becomes a member of the class subject of care (C1) and his stomach a member of the class involved structure (C6)
137
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Time line and dependencies …
act under scrutiny C2
cognitive representation in #3 about #9#13
noticing #9#12
#1’s stomach ulcer#9
#7’s structure integrity#8
#1’s stomach#7
#1’s arthrosis#4
the physician responsible for #2#3
#1’s physiotherapy#6
#1’s anti-inflammatory treatment #5
#1’s treatment#2
the patient who is treated#1
t0 t1 t2 t3
subject of care C1
involved structure C6
care giver C4
act of care C3
underlying disease C5
structure integrity C8
change brought about by #9#11 harmC10
138
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Domotics and RFID systems
• Avoiding adverse events in a hospital because of insufficient day/night illumination:– Light sensors and motion detectors in rooms and corridors
• and representations thereof in an Adverse Event Management System (AEMS)
– What are ‘sufficient’ illumination levels for specific sites is expressed in defined classes,
– Each change in a detector is registered in real time in the AEMS,
– Action-logic implemented in a rule-base system, f.i. to generate alerts.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
RT-based representation (1): IUI assignmentReality level 1 #1: that
corridor
#3: that motion detector#4: that light detector
#2: that lamp
#6: that patient withRFID #7
#5: that RFID reader
#8: that RFID reader#9: this elevator#10: 2nd floor of clinic B
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
RT-based representation (2): relationships• (Semi-)stable relationships:
– #1 instance-of ReM:Corridor since t1– #2 instance-of ReM:Lamp since t2– #2 contained-in #1 since t3– #6 member-of ReM:Patient since t4– #6 adjacent-to #7 since t4– #18 instance-of ReM:Illumination since t1– #18 inheres-in #1 since t1– …
• Semi-stable because of: – lamps may be replaced– persons are not patients all the time– …
keeping track of these changes provides a history for each tracked entity
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
RT-based representation (3): rule base *• Setting illumination requirements for lamp #2:
– #18 member-of ReM:Insufficient illumination during ty
• if – tx part-of ReM:Daytime– #y1 instance-of ReM:Motion-detection– #y1 has-agent #3 at ty
– ty part-of tx
– #y2 instance-of ReM:Illumination measurement– #y2 has-agent #4 at ty
– #y2 has-participant #18 at ty
– #y2 has-result imrz at ty
– imrz less-than 30 lumen• else
– tx part-of ReM:Night time– …
• endif* Exact format to be discussed with ReMINE partners
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
RT-based representation of events• Imagine #6 (with RFID #7) walking through #1
– #2345 instance-of ReM:Motion-detection– #2345 has-agent #3 at t4– #2346 instance-of ReM:RFID-detection– #2346 has-agent #5 at t4– #2346 has-participant #7 at t4– …
• Here, the happening of #2345 fires the rule explained on the previous slide.
• If imrz turns out to be too low, that might invoke another rule which sends an alert to the ward that lamp #2 might be broken.
• #2346 might trigger yet another rule, namely an alert for imminent danger for AE with respect to patient #6
• …
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Making existing EHR systems RT compatible
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Tracking versions of representations
New York State Center of Excellence in Bioinformatics & Life Sciences
R T UWays representational units do or do not refer
Reality Under-
standing Encoding
OE ORV BE BRV Int. Ref.
G E
P+1 Y Y Y Y Y R+ G1 0
A+1 N - N - - - G2 0
A+2 Y N Y N - - G3 0
P-1 N - Y Y Y R - 3
P-2 N - Y Y N R G4 4
P-3 N - Y Y N R- G5 5
P-4 Y Y Y Y N R G4 1
P-5 Y Y Y Y N R- G5 2
P-6 Y N Y Y Y R+ G1 1
P-7 Y N Y Y N R G4 2
P-8 Y N Y Y N R- G5 3
A-1 Y Y Y N - - G3 1
A-2 Y Y N - - - G2 1
A-3 N - Y N - - G3 1
A-4 Y N N - - - G2 1
OE: objective existence; ORV: objective relevance; BE: belief in existence; BRV: belief in relevance; Int.: intended encoding; Ref.: manner in which the expression refers; G: typology which results when the factor of external reality is ignored. E: number of errors when measured against the benchmark of reality. P/A: presence/absence of term.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Revisioning beliefs
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Comparing terminologies with reality as benchmark
mn
en
ii
45
)5(1
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Comparing ontology versions
Ceusters W. Applying Evolutionary Terminology Auditing to the Gene Ontology. Journal of Biomedical Informatics 2009;42:518–529.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Quality evolution of the Gene Ontology
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Quality forecasting
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Referent Tracking enabled Websites
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Architecture
Web Browser
Web Server
Oracle DB
Zend Framework
RTS
MiddleWare
RtuWebStat
IndexController
Web Pages stored by version
Index.phtml
main.phtml
Index.php
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Some central ideas
1. Informative websites are about portions of reality. If the latter change, so should the former.
2. Synchronization should be auditable.
3. Enforce responsibility of information providers and consumers, yet protect their integrity.
4. Cross-fertilization with Information Artifact Ontology.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Some key insights
• Static versus dynamic pages;• Web pages usually keep their name (URL), yet undergo
changes;– ‘page’ versus ‘file’
– Server file never ‘changes’: always replaced by a new file with the same name
• Changes to a file do not always involve changes to the propositional content;
• Requests to view a page do not lead the file on the server to be transmitted, but a new copy of it in each single case;
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Entities to assign IUIs to
• The content file of each page
• The content of each content file
• The propositional content of each content
• Each browser page
• Each checksum
• Each ontology and terminology used in RT-tuples
• Each RT-tuple (except D-tuples)
• The middleware component
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Use of the CEN Time Standard for HIT
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Tuple generations when adding a page
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Tuple generations when updating a page
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Tuple insertions: generating a browser pageA-tuples
n IUIp IUIa tap Key
1 #24 #2 (EVENT("#24 assignment") has-occ AT TP(time-18)) #25
3 #27 #2 (EVENT("#27 assignment") has-occ AT TP(time-20)) #28
9 #34 #2 (EVENT("#34 assignment") has-occ AT TP(time-26)) #35
D-tuples
n IUId IUIA td E C S Key
2 #2 #25 (EVENT("#25 inserted") has-occ AT TP(time-19)) I CE #26
4 #2 #28 (EVENT("#28 inserted") has-occ AT TP(time-21)) I CE #29
6 #2 #30 (EVENT("#30 inserted") has-occ AT TP(time-23)) I CE #31
8 #2 #32 (EVENT("#32 inserted") has-occ AT TP(time-25)) I CE #33
10 #2 #35 (EVENT("#35 inserted") has-occ AT TP(time-27)) I CE #36
12 #2 #37 (EVENT("#37 inserted") has-occ AT TP(time-29)) I CE #38
PtoP-tuples
n IUIa ta r IUIo P tr Key
5 #2 (EVENT("#30 is asserted") has-occ AT TP(time-22)) MainContentCopyOf #022 #27, #12 (EPISODE("#30 is true") has-occ SINCE TI(time-20)) #30
7 #2 (EVENT("#32 is asserted") has-occ AT TP(time-24)) InstigatorOf #022 #24, #27 (EVENT ("#32 is true") has-occ AT TP(time-18)) #32
11 #2 (EVENT("#37 is asserted") has-occ AT TP(time-28)) ChecksumOf #022 #34, #27 (EPISODE("#37 is true") has-occ SINCE TI(time-26)) #37