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Methods of Information in Medicine
© F. K. Schattauer Verlagsgesellschaft mbH (1998)
I
,
Desiderata for Controlled Medical
Vocabularies in the Twenty-First
Century
Department of Medical Informatics,
Columbia University, New York, USA
Abstract: Builders of medical informatics applications need controlled
medical vocabularies to support their applications and it is to their advantage to use available standards. In order to do so, however, these standards need to address the requirements of their intended users. Overthe past
decade, medical informatics researchers have begun to articulate some
of these requirements. This paper brings together some of the common
themes which have been described, including: vocabulary content, concept
orientation, concept permanence, nonsemantic concept identifiers, polyhierarchy, formal definitions, rejection of “not elsewhere classified” terms,
multiple granularities, mUltiple consistent views, context representation,
graceful evolution, and recognized redundancy. Standards developers are
beginning to recognize and address these desiderata and adapt their offerings to meet them.
Keywords: Controlled Medical Terminology, Vocabulary, Standards, Review
1. Introduction
The need for controlled vocabularies
in medical computing systems is widely
recognized. Even systems which deal
with narrative text and images provide
enhanced capabilities through coding of
their data with controlled vocabularies.
Over the past four decades, system
developers have dealt with this need by
creating ad hoc sets of controlled terms
for use in their applications. When the
sets were small, their creation was a
simple matter, but as applications have
grown in function and complexity, the
effort needed to create and maintain
the controlled vocabularies became
substantial. With each new system, new
efforts were required, because previous
vocabularies were deemed unsuitable
for adoption in or adaptation to new
applications. Furthermore, information
in one system could not be recognized
by other systems, hindering the ability
to integrate component applications
into larger systems.
Consider, for example, how a computer-based medical record system
might work with a diagnostic expert
system to improve patient care. In order
to achieve optimal integration of the
two, transfer of patient information
from the record to the expert would
need to be automated. In one attempt
to do so, the differences between the
controlled vocabularies of the two
systems was found to be the major
obstacle – even when both systems were
created by the same developers [1].
The solution seems obvious: standards [2]. In fact, many standards have
been proposed, but their adoption has
been slow. Why? System developers
generally indicate that, while they
would like to make use of standards,
they can’t find one that meets their
needs. What are those needs? The
answers to this question are less clear.
The simple answer is, “It doesn’t have
what I want to say.” Standards developers have taken this to mean that the
solution is equally simple: keep adding
terms to the vocabulary until it does say
what’s needed. However, systems developers, as users of controlled vocabularies, are like users everywhere: they
may not always articulate their true
needs. Vocabulary developers have
labored to increase their offerings, but
have continued to be confronted with
ambivalence. A number of vocabularies
have been put forth as standards [3] but
they have been found wanting in some
recent evaluations [4-6].
d If) [31].
2.10 Beyond Medical Concepts:
Representing Context
Part of the difficulty with using a
standard controlled vocabulary is that
the vocabulary was created independent of the specific contexts in which it
is to be used. This helps prevent the
vocabulary from including too many
implicit assumptions about the meanings of concepts and allows it to stand
on its own. However, it can lead to
confusion when concepts are to be
recorded in some specific context, for
example, in an electronic patient
record. Many researchers have expressed a need for their controlled vocabulary to contain context representation
through formal, explicit information
about how concepts are used [21, 65,
66].
A decade ago, Huff and colleagues
argued that a vocabulary could never be
truly flexible, extensible and comprehensive without a grammar to define
how it should be used [67]. Campbell
and Musen stated that, in order to
provide systematic domain coverage,
they would need both a patient-description vocabulary and rules for manipula-
-”
tion of the vocabulary [68]. Rector et aL
add an additional requirement: not only
is there a grammar for manipulation,
but there is concept-specific informa_
tion about “what is sensible to say” that
further limits how concepts can be
arranged [43]. Such limitations are
needed in order for the vocabulary to
support operations such as predictive
data entry, natural language processing,
and aggregation of patient records;
Rector (and others in the Galen Project)
simply request that such information be
included as part of the vocabulary, in the
form of constraints and sanctions [69].
If drawing the line between concept
and context can become difficult [41],
drawing the line between the vocabulary and the application becomes even
more so. After all, the ultimate context
for controlled medical vocabulary
concepts is some external form such as
a patient record. Coping with such
contexts may be easier if such contexts
are modeled in the vocabulary [70]. A
schematic of how such contexts fit
together is shown in Fig. 2. The
figure differentiates between levels of
concept interaction: what’s needed to
define the concepts, what’s desired to
show expressivity of the vocabulary,
and how such expressiveness is channeled for recording purposes (e.g., in a
patient record).
Of course, patient records vary a
great deal from institution to institution
Lc
Fig. 1 Multiple views of a polyhierarchy. a) Internal arrangements of nine concepts in a
polyhierarchy, where E has two parents; b) Hierarchy has been collapsed so that specific
concepts serve as synonyms of their more general parents; c) Intermediate levels in the
hierarchy have been hidden; d) Conversion to a strict hierarchy; e) Strict hierarchy with
mUltiple contexts for term E; f) Multiple contexts for E are shown, but are inconsistent
(different children).
398
Meth Inform Med
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In reviewing the various writings
on the subject, it becomes clear that
multiple granularities are needed for
mUltipurpose vocabularies. Vocabularies which attempt to operate at one
level of granularity will be deemed
inadequate for application where finer
grain is needed and will be deemed
cumbersome where coarse grain is
needed. Insistence on a single level of
detail within vocabularies may explain
why they often are not reusable [62]. It
also conflicts with a very basic attribute
of medical information: the more
macroscopic the level of discourse, the
coarser the granularity of the concepts
Assertional; Knowledge
(how concepts combine)
Contextual Knowledge
(how concepts are used)
name changes, code reuse, and changed
codes) can be avoided.[74]
I
Progress Note
Rndlng
Iprogress Note I
Fig.2 Definitional, assertional, and contextual information in the vocabulary showing how
concepts can be combined and where they will appear in a clinical record.
and, if we have difficulty standardizing
on a vocabulary, what hope is there for
standardizing on a record structure?
One possible solution is to view the
recording of patient information from
an “event” standpoint, where each
event is constitutes some action, including the recording of data, occurring
during an episode of care which, in turn
occurs as part of a patient encounter
[71, 72]. These add more levels to the
organization of concepts in contexts,
but can be easily modeled in the vocabulary, as in Fig. 2.
2.11 Evolve Gracefully
It is an inescapable fact that controlled vocabularies need to change with
time. Even if there were a perfect vocabulary that “got it right the first time”,
the vocabulary would have to change
Finding
IPneumonia I
ILeft Lower Lobe I
–
with the evolution of medical knowledge. All too often, however, vocabularies change in ways that are for the
convenience of the creators but wreak
havoc with the users [32]. For example,
if the name of a concept is changed in
such a way as to alter its meaning, what
happens to the ability to aggregate
patient data that are coded before and
after the change? An important desideratum is that those charged with maintaining the vocabulary must accommodate graceful evolution of their content
and structure. This can be accomplished
through clear, detailed descriptions of
what changes occur and why [73], so
that good reasons for change (such as
simple addition, refinement, precoordination, disambiguation, obsolescence,
discovered redundancy, and minor
name changes) can be understood and
bad reasons (such as redundancy, major
Left Lower Lobe Pneumonia
is-a: Pneumonia
has-site: Left Lower Lobe
participates-in: Finding
Fig.3 Interchangability of redundant data representations. The structure on the left
depicts the post coordination of a disease concept (Pneumonia) and a body location (Left
Lower Lobe) to create a finding in an electronic medical record. The structure on the right
shows a precoordinated term for the same finding (Left Lower Lobe Pneumonia). Because
this latter term includes formal, structured definitional information (depicted by the is-a,
has-site, and participates-in attributes), it is possible to recognize, in an automated way, that
data coded in these two different ways are equivalent.
In controlled vocabulary parlance,
redundancy is the condition in which
the same information