I am about to commit changes to the CPR ontology (I can't commit now
due to Google Code being in readonly mode now).
Most of the changes were as a result of feedback from Michel Dumontier
(in particular regarding signs and symptoms) from an effort to
integrate the CPR ontology with the Translational Medicine Ontology
[1]. At the same time, a thorough review was done resulting in many
structural changes and the fleshing out of human-readable definitions,
comments, etc.
# Major changes #
## Namespace and organization##
The namespace has been changes to remove reference to a version number
(http://purl.org/cpr/). This new base URI redirects to
http://cpr-ontology.googlecode.com/svn/trunk/CPR.owl. The pheno
namespace has been removed and the terms in that namespace have been
moved under the cpr namespace.
CPR has been separated from BioTop. There is a new file CPR-
biotop.owl which imports CPR and the BioTop-RO-BFO bridge and defines
correspondence between CPR and BioTop.
## Measurements, units and assays ##
The Measurement Units Ontology (MUO [2]) is now imported for use with
assay results (as qualities values with units).
The intension is to
capture assay results in one of two ways:
[ a cpr:laboratory-test;
ro:has_participant
[ a cpr:patient
:diastolic [ muo:measuredIn :mmHg;
muo:numericalValue 74 ];
:systolic [ muo:measuredIn :mmHg;
muo:numericalValue 117 ]
]
]
or
[ a cpr:laboratory-test-finding;
ro:has_proper_part
[ a cpr:laboratory-test-finding;
rdfs:label "diastolic BP";
cpr:measurementOf [ muo:measuredIn :mmHg;
muo:numericalValue 74 ]],
[ a cpr:laboratory-test-finding;
rdfs:label "systolic BP";
cpr:measurementOf [ muo:measuredIn :mmHg;
muo:numericalValue 117 ]]
]
Where (in the first case) :diastolic and :systolic are specializations
of muo:qualityValue that relate a participant in an assay with the
measurement of a property of the participant (as a muo:QualityValue).
In the second case, we use cpr:measurementOf to relate the diastolic
BP finding to the diastolic quality value and define the systolic BP
in a similar fashion. cpr:measurementOf is a specialization of
cpr:representationOf that holds between a representational artifact
and a muo:QualityValue (typically associated with the subject of the
clinical finding).
## Symptoms and signs are captured as representational artifacts only
##
The symptom and signs concepts have been modified so that they
primarily are represented as representational artifacts and not
special kinds of bodily features. It is generally a bad idea to mix
the ontology-epistemology divide [3]. The former is about collections
of things in reality and the latter is a study of how cognitive
subjects come to know the truth about phenomena in reality. Some
bodily features, can exist before they are perceived by a patient (who
then hypothesizes they indicates a disease) but they aren't considered
symptoms at that time.
So, there is nothing about a cough (for
example) that makes it a symptom besides the way it is reported; this
is an epistemic distinction alone. This is mostly the case with signs
as well although what makes things a sign is a little more objective
or empirical. Still the distinction between signs and other bodily
features is mostly epistemic (whether it is observable or whether it
was observed).
So, now CPR only has symptom-recording and sign-recording. A new
processual entity called self-examination has been added that is an
agentive action performed by a patient on his or herself to determine
the existence of a medical problem. a symptom-recording is then a
primitive clinical-artifact that is the output of a medical-history-
screening-act or self-examination and is the presentation of a bodily
feature. So, here the logical distinction between a symptom and other
bodily features is that they are cpr:representedBy a symptom-recording
rather than some yet to be determined ontologic distinction. As a
result, a symptom-recording is no longer a clinical-finding since it
could be the output of a self-examination and thus not composed by a
clinician.
The intension is to
capture assay results in one of two ways:
[ a cpr:laboratory-test;
ro:has_participant
[ a cpr:patient
:diastolic [ muo:measuredIn :mmHg;
muo:numericalValue 74 ];
:systolic [ muo:measuredIn :mmHg;
muo:numericalValue 117 ]
]
]
i don't like this because1 - the patient should have the quality of diastolic/systolic blood pressure, and that the measured values should be then specified against these quality instances (as opposed to using these as predicates)
2 - since these values change with time, they need to be directly linked to the test, rather than through the patient
or
[ a cpr:laboratory-test-finding;
ro:has_proper_part
[ a cpr:laboratory-test-finding;
rdfs:label "diastolic BP";
cpr:measurementOf [ muo:measuredIn :mmHg;
muo:numericalValue 74 ]],
[ a cpr:laboratory-test-finding;
rdfs:label "systolic BP";
cpr:measurementOf [ muo:measuredIn :mmHg;
muo:numericalValue 117 ]]
]
a test finding should be composed of the informational elements - e.g. the values themselves, and these values should then be linked to the quality they measure, and that quality to the patient.Where (in the first case) :diastolic and :systolic are specializations
of muo:qualityValue that relate a participant in an assay with the
measurement of a property of the participant (as a muo:QualityValue).
In the second case, we use cpr:measurementOf to relate the diastolic
BP finding to the diastolic quality value and define the systolic BP
in a similar fashion. cpr:measurementOf is a specialization of
cpr:representationOf that holds between a representational artifact
and a muo:QualityValue (typically associated with the subject of the
clinical finding).
Similarly, a sign-recording is a clinical-finding that is the output
of a clinical-examination. So, a sign can be logically distinguished
from other bodily features by the fact that they are cpr:representedBy
a sign-recording. However, as is the case with symptoms, we don't
make an explicit sign class due to the problems mentioned before about
the epistemic nature of the distinction from other bodily features.
## Uncertain temporal extent of occurrents ##
4 new datatype predicates were added as specializations of
cpr:occursDuring that relate a processual entity with a temporal
region (during which they occur) where there is uncertainty about the
specific begin and end: cpr:startsNoEarlierThan,
cpr:startsNoLaterThan, cpr:stopsNoEarlierThan, and
cpr:stopsNoLaterThan. The range of these predicates is xsd:dateTime.
## Complications and sequela ##
A new cpr:sequela class has been added, a defined class that is those
bodily features that are the consequence of a disease
## Changes to relations ##
The domain and range of various 'core' relations has been added (such
as cpr:hasInput).
Various relations were removed due to their idiosyncratic nature:
- cpr:hasComplication / cpr:isComplicationOf was removed due to
introduction of cpr:sequela which can be used with cpr:hasConsequence
for the same purpose
- cpr:hasImmediateConsequence and cpr:hasLateConsequence were removed
(better served via use of occurrents with uncertain temporal extents)
- cpr:isTreatedBy
The domain of both cpr:hasIndication and cpr:hasContraindication is
therapeutic-act. The range of cpr:hypothesizedProblem (whose domain is
cpr:clinical-diagonosis) is now disease rather than medical problem.
The intuition here is that (in the medical literature) a diagnosis is
a conclusion about a disease specifically.
[1] http://code.google.com/p/translationalmedicineontology/
[2] http://forge.morfeo-project.org/wiki_en/index.php/Units_of_measurement_ontology
[3] Bodenreider O, Smith B, Burgun A, The Ontology-Epistemology
Divide: A Case Study in Medical Terminology. In: Varzi AC and Vieu L,
editors. FOIS 2004. Proceedings of. The International Conferenceon
Formal Ontology and Information Systems; 2004 Nov 4-6, Turin, Italy.
Amsterdam IOS Press; 2004.185–195
--
Michel Dumontier
Associate Professor of Bioinformatics
Carleton University
http://dumontierlab.com
MUO includes a muo:measuresQuality relationship that holds between a
unit of measurement and a muo:PhysicalQuality (snap:Quality), so to
make an explicit statement about the BP pressure quality you could do:
:mmHg
muo:measuresQuality :DiastolicBloodPressure, :SystolicBloodPressure
:DiastolicBloodPressure a snap:Quality
:SystolicBloodPressure a snap:Quality
So, if you preferred to not use the relation to capture which quality
we are measuring, you could (perhaps) do this instead:
[ a cpr:patient
muo:qualityValue [ muo:measuredIn
[ muo:measuresQuality :DiastolicBloodPressure ];
muo:numericalValue 74 ];
muo:qualityValue [ muo:measuredIn
[ muo:measuresQuality :SystolicBloodPressure ];
muo:numericalValue 117 ]]
>> ..snip ..
> > subjects come to know the truth about phenomena in reality. SomeYes, *all* bodily features that are indicated to be 'signs' or
> > bodily features, can exist before they are perceived by a patient (who
> > then hypothesizes they indicates a disease) but they aren't considered
> > symptoms at that time.
>
> some? surely all bodily features exist independent of whether we perceive
> them.
'symptoms' by physician and patient alike exist independent of whether
they are perceived and how they are perceived - which is the problem
of trying to distinguish signs & symptoms from other bodily features
by virtue of how they are perceived (which has nothing to do with
their nature)
I'm not sure when you say 'signs' or 'symptoms' whether you are
> > So, now CPR only has symptom-recording and sign-recording. A new
> > processual entity called self-examination has been added that is an
> > agentive action performed by a patient on his or herself to determine
> > the existence of a medical problem. a symptom-recording is then a
> > primitive clinical-artifact that is the output of a medical-history-
> > screening-act or self-examination and is the presentation of a bodily
> > feature. So, here the logical distinction between a symptom and other
> > bodily features is that they are cpr:representedBy a symptom-recording
> > rather than some yet to be determined ontologic distinction. As a
> > result, a symptom-recording is no longer a clinical-finding since it
> > could be the output of a self-examination and thus not composed by a
> > clinician.
> hmm... i don't agree. Surely we can instantiate signs and symptoms directly
> with an indication of the bodily features from which they the cognitive
> associations are made, and indicate who is responsible for them.
referring to 1) the digital artifacts in the medical record
or 2)
some other thing, i.e., the 'interpretations' of bodily feature(s).
And if you meant 2), what kind of things are they if they are not
digital artifacts or bodily features?
Ok, so this is what I understood originally from your take on signs
> in the worst case, these bodily features play the role of signs/symptoms depending
> on whom is involved in the diagnosing process - although whether this is a
> role in the sense of BFO is unclear to me.
and symptoms. Assuming they are roles (SignRole and SymptomRole for
instance), the bodily features that 'play' these roles in a diagnosing
process are considered signs and symptoms:
Class: Sign
EquivalentTo:
cpr:bodily-feature that (cpr:hasRole some SignRole) and
(ro:participates_in some
(cpr:clinical-examination that (ro:has_participant some
cpr:physician)))
That makes sense for those signs and symptoms that are continuants,
but not for those that are processes
-- Chime
:mmHgmuo:measuresQuality :DiastolicBloodPressure, :SystolicBloodPressure:DiastolicBloodPressure a snap:Quality:SystolicBloodPressure a snap:Quality
On Fri, Jun 11, 2010 at 9:58 AM, Bob Powers <bobpo...@gmail.com> wrote:
..snip..
> The ontology-epistemology divide seems to me to be different from the
> distinction between an entity and the record of it.
Yes, they are different distinctions but - in my opinion - the two
most egregious conflations of meaning made by people who use clinical
terminology (at least that is what I have found in trying to elicit
the meaning of these terms). The representational-artifact hierarchy
is meant to address the entity and record of it distinction. The
representationOf relationship is motivated by the relationship between
a URI and what it 'identifies' as well as the relationship between a
token and what it denotes (in model theory, semiotics, etc.). It
essentially is meant to have the same semantics as the IAO's 'is
about' relationship.
> (Chime, thanks for the
> reference to this http://ontology.buffalo.edu/medo/Onto_Epist.pdf.)
No problem.
> Just
> because an entity has some of the properties of a record does not make it
> so. Since I'm of the opinion that signs/symptoms are not records, making a
> clear distinction between sign and sign-record is very reassuring.
> The question is, how should 'sign' be constructed? I would hope that there
> would be some formulation for what a (universal) sign is logically prior to
> its being referred to by a (universal) record.
I think it is clearer in the case of a sign than with a symptom (since
it is meant to be objective and empirical). The wiki says a sign is
'an indication of some medical fact or characteristic that may be
detected by a physician during a physical examination of a patient'.
Stedman's dictionary says it is
'Any abnormality indicative of disease, discoverable on examination of
the patient; an objective indication of disease, in contrast to a
symptom, which is a subjective indication of disease.'
So whether or not they are the manifestation of a disease, at the very
least they are observable and so are 'real things' (universals or
natural kinds). If you go with the definition that includes the
criteria that they are indicative of a disease, then it is not clear
if the indication is hypothesized, if it is a necessary component of
being a sign, or if the relationship is causal.
I tend to defer to Caroline Whitbecks assessment [1] of this topic
since it is one of the more cited works about the 'philosophy of
(clinical) medicine' and even by her account it is not entirely clear
if you can say that signs have a causal relationship with diseases:
"a contributing condition or cause differs from a necessary condition
in that its absence
does not guarantee the non-occurrence of the phenomenon in question
[...] a common error, namely that of speaking as though a proper part
of the disease process as an effect of the disease. However the
(clinical and pathological) manifestations of a disease (as opposed,
say, to the signs that one has had a disease) are not external to the
disease process. They are states of affairs which occur within the
disease process. Given the analysis of causal relations presented in
section three above, it is clear that a whole cannot be said to cause
its parts."
and..
"The rejection of the view that diseases cause the signs and symptoms
which are their characteristic manifestations does not decide the
question of whether (the presence of) a disease as a whole explains
(the presence of) its characteristic signs and symptoms"
etc. She goes into great detail to at least demonstrate that the
relationship between a disease and its manifestations (it's signs and
symptoms) is problematic. So, it seems to me, we are not left with
much to properly 'construct' the criteria of the 'sign' universal. My
question is if this is necessary for the usefulness of an ontology for
clinical medicine? The distinction doesn't seem to have much of a
value to answer informatics questions. Which is why I think providing
a way to construct the representational artifacts that represent signs
and not the things their referents is the more pragmatic approach.
> ..snip ..
> 'clinical examination'
> realizes 'indication role'
> 'is role of' GDC
> inheresIn 'bodily feature'
> realizes 'clinician role'
> 'is role of' person
> ..snip ..
> This would seem to restrict GDC's to depending on ICs. Too bad, I think
> that we really need signs/symptoms that are able to be (or are able to be
> closely tied to) occurrents so as not prematurely to model too closely.
I think I follow the challenges you outline, but I have two additional
questions: 1) what is the nature of the 'indication role' and 2) what
about signs that have not yet been observed during a clinical exam?
> So we are trying to cross the ontology-epistemology <chasm>, but with purely
> BFO-realist-ontology tools that cannot step outside the domain.
I agree.
> This is
> where, I take it, Michel's SIO solution does indeed step outside.
> Dare I suggest an 'epistemically dependent continuant'? One that inheres in
> an entity and that has an interpretive role that is realized in an
> interpretive process.
So, the GDC would inhere in the sign that plays an 'interpretive role'
in an interpretive process? I wonder whether this is similar in some
way to the SNOMED-CT interpets relationship (which is asserted about
clinical findings):
"This attribute refers to the entity being evaluated or interpreted,
when an evaluation, interpretation or “judgment” is intrinsic to the
meaning of a concept."
> The chasm is more fundamental than a distinction
> between continuants and occurrents, or between specific and generic
> dependency. But maybe one can just label the thing and move on.
+1 (I'm in favor of this)
> Have no
> idea whether this is worthy or original, and it's way beyond the purview of
> the CPR itself.
agreed
>But at least it's got a target painted on its back:)
> My strong prejudice is that, whatever solution emerges, it is worth getting
> right at some granularity for the sake of the whole stack.
[1] Whitbeck, C., Causation in Medicine: The Disease Entity Model.
Philosophy of Science, Vol. 44, No. 4, pp. 619-637. The University of
Chicago Press. Dec., 1977
Hey Bob.
On Fri, Jun 11, 2010 at 9:58 AM, Bob Powers <bobpo...@gmail.com> wrote:
..snip..
> The ontology-epistemology divide seems to me to be different from theYes, they are different distinctions but - in my opinion - the two
> distinction between an entity and the record of it.
most egregious conflations of meaning made by people who use clinical
terminology (at least that is what I have found in trying to elicit
the meaning of these terms). The representational-artifact hierarchy
is meant to address the entity and record of it distinction. The
representationOf relationship is motivated by the relationship between
a URI and what it 'identifies' as well as the relationship between a
token and what it denotes (in model theory, semiotics, etc.). It
essentially is meant to have the same semantics as the IAO's 'is
about' relationship.
No problem.
> Just
> because an entity has some of the properties of a record does not make it
> so. Since I'm of the opinion that signs/symptoms are not records, making a
> clear distinction between sign and sign-record is very reassuring.
> The question is, how should 'sign' be constructed? I would hope that there
> would be some formulation for what a (universal) sign is logically prior to
> its being referred to by a (universal) record.
I think it is clearer in the case of a sign than with a symptom (since
it is meant to be objective and empirical).
So, it seems to me, we are not left with
much to properly 'construct' the criteria of the 'sign' universal. My
question is if this is necessary for the usefulness of an ontology for
clinical medicine? The distinction doesn't seem to have much of a
value to answer informatics questions. Which is why I think providing
a way to construct the representational artifacts that represent signs
and not the things their referents is the more pragmatic approach.
> ..snip ..
> 'clinical examination'> ..snip ..
> realizes 'indication role'
> 'is role of' GDC
> inheresIn 'bodily feature'
> realizes 'clinician role'
> 'is role of' person
> This would seem to restrict GDC's to depending on ICs. Too bad, I thinkI think I follow the challenges you outline, but I have two additional
> that we really need signs/symptoms that are able to be (or are able to be
> closely tied to) occurrents so as not prematurely to model too closely.
questions: 1) what is the nature of the 'indication role' and 2) what
about signs that have not yet been observed during a clinical exam?
I agree.
> So we are trying to cross the ontology-epistemology <chasm>, but with purely
> BFO-realist-ontology tools that cannot step outside the domain.
So, the GDC would inhere in the sign that plays an 'interpretive role'
> This is
> where, I take it, Michel's SIO solution does indeed step outside.
> Dare I suggest an 'epistemically dependent continuant'? One that inheres in
> an entity and that has an interpretive role that is realized in an
> interpretive process.
in an interpretive process? I wonder whether this is similar in some
way to the SNOMED-CT interpets relationship (which is asserted about
clinical findings):
"This attribute refers to the entity being evaluated or interpreted,
when an evaluation, interpretation or “judgment” is intrinsic to the
meaning of a concept."
+1 (I'm in favor of this)
> The chasm is more fundamental than a distinction
> between continuants and occurrents, or between specific and generic
> dependency. But maybe one can just label the thing and move on.
agreed
> Have no
> idea whether this is worthy or original, and it's way beyond the purview of
> the CPR itself.