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Semantic Alignment between ICD-11 and SNOMED CT
Jean-Marie Rodriguesa,b, David Robinsonc, Vincenzo Della Mead, James Campbelle, Alan Rectorf, Stefan Schulzg,
Hazel Brearh, Bedirhan Üstüni , Kent Spackmanc , Christopher G. Chutej , Jane Millarc,
Harold Solbrigk, Kristina Brand Perssonl
a INSERM U1142, LIMICS, Paris, France
b Department of Public Health and Medical Informatics, Univ. Jean Monnet of Saint Etienne, France
c Intl Health Terminology Standards Development Organization, Copenhagen Denmark
d Department of Mathematics and Computer Science, University of Udine, Italy
e Department of Internal Medicine University of Nebraska Medical Center Omaha USA
f University of Manchester, United Kingdom
g IMI, Medical University of Graz, Austria
h Health and Social Care Information Centre. United Kingdom
i World Health Organization, Geneva, Switzerland
j Division of General Internal Medicine, Johns Hopkins University, Baltimore, MD, 21287, USA
k Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
l National Board of Health and Welfare, Stockholm, Sweden
Abstract
Due to fundamental differences in design and editorial
policies, semantic interoperability between two de facto
standard terminologies in the healthcare domain – the
International Classification of Diseases (ICD) and SNOMED
CT (SCT), requires combining two different approaches: (i)
axiom-based, which states logically what is universally true,
using an ontology language such as OWL; (ii) rule-based,
expressed as queries on the axiom-based knowledge. We
present the ICD–SCT harmonization process including: a) a
new architecture for ICD-11, b) a protocol for the semantic
alignment of ICD and SCT, and c) preliminary results of the
alignment applied to more than half the domain currently
covered by the draft ICD-11.
Keywords:
ICD, SNOMED CT, Standards, Ontology, Terminology,
Classification.
Introduction
The project to achieve semantic alignment between these two
standards in the healthcare clinical vocabulary began with an
agreement signed in 2010 between the World Health Organi-
zation (WHO) and the International Health Terminology
Standards Development Organization (IHTSDO). ICD[1],
currently published as ICD-10, is the most important
worldwide standard for mortality and morbidity statistics.
However, it is is also used – in several national modifications
and extensions – for health care documentation and billing.
The international clinical terminology standard SCT[2,3] has
been expanding under the management of the IHTSDO. SCT
promises to provide an international standard for codes, terms
and formalisms to represent details of the health care process.
The current ICD – SCT alignment efforts occur at a time when
clinicians, documentation specialists, epidemiologists, health
care administrators and health service researchers identify
more and more use cases in which SCT is used in parallel with
ICD and local procedure and medication terminology systems.
This alignment is driven by requirements for increasing granu-
larity of clinical content to record expanding medical
knowledge arising from genomic and related research. To en-
sure full semantic interoperability between ICD and SCT, a
semantic alignment policy was developed which relates ICD
classes to rule-based queries depending upon an ICD-11–SCT
Common Ontology (CO) [4]. Here we report on the current
state of this harmonization effort.
This harmonization requires an innovative architecture for
ICD-11 because, in the past, the two standards have been
based on different semantics: SCT on axioms that express
universal truths (e.g. that all instances of Thrombosis affect
the vascular system); ICD on rule-based knowledge that intro-
duce class definition (e.g. thrombosis in pregnancy falls into a
different class for public health reporting).
Materials and Methods
ICD-11 – SCT Harmonization
In 2007, the WHO launched the revision of ICD[5]. After the
agreement between WHO and IHTSDO, a Joint Advisory
Group (JAG) was established in 2010. There was consensus
within JAG that the harmonization could not simply be a
mapping between representational entities (classes and con-
cepts) of both systems. The consensus approach was to base
the alignment around a Common Ontology following widely
acknowledged principles [6-10].
ICD-11 was designed as a multi-component architecture[4].
The first component is a set of “linearizations” for different
uses cases – mortality, morbidity, primary care – that are
organised as a single hierarchy with disjoint, exhaustive
classes taking origin in previous versions of ICD. A second
component, named the Foundation Component (FC), contains
all of the ICD-11 classes organised according to new, more
flexible principles.
This foundation component has at its core, a model of mean-
ing based on description logic [11], using formalisms and lan-
guage equivalent to those of the semantic web community
deployed in OWL[12] and SNOMED CT. This model was
named the ICD – SCT Common Ontology (CO)[4, 13]. Fig. 1
illustrates how the common ontology is related to: (i)
SNOMED CT, (ii) ICD-11 linearizations and (iii) contingent
MEDINFO 2015: eHealth-enabled Health
I.N. Sarkar et al. (Eds.)
© 2015 IMIA and IOS Press.
This article is published online with Open Access by IOS Press and distributed under the terms
of the Creative Commons Attribution Non-Commercial License.
doi:10.3233/978-1-61499-564-7-790
790
knowledge in the ICD content model, such as diagnostic crite-
ria or therapies, originating with WHO class definitions.
The Common Ontology is a subset of the international release
of SNOMED CT (hereafter abbreviated to “SNOMED”) ex-
panded and revised for ICD convergence. The Common On-
tology has been harmonized with ICD text definitions supplied
by the WHO. The CO drew primarily from SNOMED Clinical
Findings hierarchy, which includes findings, disorders and
diseases. The CO has minor components from other
SNOMED hierarchies including Situations, Events and Social
context and will have defining attributes taken from Body
Structure, Organisms, Physical agents and others.
JAG had concluded during convergence discussions that these
concepts denote clinical situations, i.e. phases of a patient’s
life, in which a given condition of clinical relevance is present
[14].
The ICD class definitions and metadata were assembled using
the ICD URI API[15, 16]. SNOMED normal forms and defi-
nitions were provided by IHTSDO from the 2015-01-30 inter-
national release. The two terminologies were lexically mapped
and managed with an Equivalence Table (ET), which was the
worksheet for semantic analysis as described below. A Sequel
Pro API was used by the IHTSDO to interface with a DL clas-
sified developmental version of SNOMED.
This ET contained stated normal forms of pre-coordinated
concepts as well as proposed additions to SNOMED. Referen-
tial quality assurance rules ensured consistency between chap-
ters and tracked changes to SNOMED across developmental
releases.
The architecture of the system was built around a web-
accessible MySQL ET data base that could be fed with Excel
files or SQL. The database could generate output in any of
these modes or as an OWL file [17]. The database is
synchronised with IHTSDO equivalence matching tools using
a customized exchange format. In this database, we used a
double browser (ICD-11/SNOMED) with graphical interface
connected by equivalences links.
The web application was able to maintain multiple equiva-
lences, recorded by author, in order to also study inter-
observer agreement in equivalence identification. When test-
ing semantic alignment required reclassification of the com-
mon ontology, we exported an OWL version to Protégé [18]
for description logic classification and comparison of
inheritance.
Methods for semantic alignment
1 For a defined subset of ICD beta foundation hierarchy
(roughly equivalent to a chapter in ICD-10), generate
a candidate map from ICD-11 classes to concepts in
“Clinical findings”, “Situations”, “Events” or “Social
context” branches of the SNOMED hierarchy. To
identify the map, consider the SNOMED fully speci-
fied name (FSN), ICD short text definition, the
SNOMED logical definition, and the SNOMED Short
Normal Form. (Class M, Table1)
2 For ICD-11 classes without corresponding SNOMED
content, mark as Unmatched (U). Develop when pos-
sible a candidate pre-coordinated SNOMED concept
node to be added to core. Use the new SNOMED
concept’s normal form as the Common Ontology (CO)
concept. (class U/A see Table 1)
3 If ICD class is too complex for a single or pre-
coordinated SNOMED concept, try to express the ICD
11 class as a Boolean Logical expression within the
constraints of SNOMED model of meaning. Identify
the expression as the CO entry. (class U/E, Table 1)
4 Bypass ICD-11 residual classes (NEC) but check if
there is a broader match (Parent) (Class U/R, Table 1)
5 If none of the above is possible, propose added
SNOMED attributes (U/X, Table 1) or new attribute
values (U/EX, Table 1) to create the CO concept.
Table 1– Types of match of ICD Common Ontology concepts
to SNOMED CT (SCT)
Match Type
& Meaning
Action in
SNOMED
Common
Ontology
Axiom
Match (M) – SCT Short
Normal Form
Unmatched/A (U/A)
Add appropriate
pre-coordinated
concept to SCT
New SCT
precoordinated
Normal Form
Unmatched/E (U/E)
Post-coordinated
expression
without change
in the model of
meaning
SCT post-
coordinated
Logical
expressions
Unmatched/R (U/R)
None
Unmatched/X (U/X)
Potential to add
with change to
SCT model of
meaning
Discussion with
IHTSDO
Unmatched /EX
Potential to add
with change to
content model-
object/value
Discussion with
IHTSDO
Table 1 summarizes the different types of SNOMED
(SCT) candidate matches to Common Ontology
6 For each pair of ICD-11 class/subclass and SNOMED
concept in the equivalence table: a) check the WHO
short text definition for content, consistency and mean-
ing; b) check the semantics of the SNOMED concept or
expression including FSN and description logic (DL)
definition (short normal form) to assess the alignment
of the meanings of the ICD and SNOMED definitions;
c) flag all discrepancies and send them to the
WHO/IHTSDO interdisciplinary team for:
a) modification of ICD-11 text definition by a Joint Ad-
visory Group definitions workgroup, or
b) changes to SNOMED description logic definition by
SNOMED editors
7 For revisions to SNOMED concept definitions, recom-
pile the DL classification of the edited SNOMED con-
tent including expressions (U/E). From the re-
classified SNOMED, enumerate the set of all subsumed
SNOMED concepts corresponding to each equivalent
ICD-11 class and assure that the subsumed set has a
one-to-one match within the set of subsumed
SNOMED mapped concepts and expressions. Identify
discrepancies between the subsumed sets.
8 Evaluate the discrepant class/concept pairs for FSN and
logic definitions and determine the root cause of the
mismatch. Is this is a misalignment of the ICD-11 sub-
class with the definition of the ICD-11 class or a differ-
ence in concept or attribute definition in SNOMED?
J.-M. Rodrigues et al. / Semantic Alignment between ICD-11 and SNOMED CT 791
a)
b)
9
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eases of the
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mbosis
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(
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onary
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d
(
d
(
a
(
b
D
iscussion
h
e overall r
e
n
tities 14,348
C
T model o
f
o
ordinated/po
s
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stems. Very
o
m the FC
o
m
eaning. We
p
h
ow how t
h
n
owledge a
n
n
owledge:
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i
r
epresen
t
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i
concept.
entity, “
C
n
ecessar
“87343
0
2. The SN
O
complet
e
single S
N
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odel
o
–
Semantic al
i
(percentag
e
es
b
lood and blo
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t
ional and me
t
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c
irculatory sy
s
espiratory sy
s
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igestive syst
e
kin
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usculoskelet
g
enitourinary
s
d
birth and the
p
n
s originating
Table 3– Ex
a
C
ommon Ont
5464572001|
D
d
isorder)|:{11
m
orphology (
a
m
orphologic
a
i
te (attribute)|
=
ein (body str
u
94828000|A
n
d
isorder)|+23
6
d
isorder)|:{36
a
ttribute)|=74
2
b
ody structur
e
e
sults show
(85.5%) (T
a
f
meaning e
i
s
t–coordinate
d
few are res
i
o
r need a re
v
p
ropose three
h
e two syst
e
n
d how t
h
i
ning relation
s
t
ation that c
a
i
on Compo
n
For example
C
oronary vas
ily and suf
f
0
02 | Prinzmet
O
MED defin
i
e
ontological
r
N
OMED co
n
o
r pre-coordi
n
i
gnment by I
C
e
on 01-01-2
0
o
d-forming o
r
t
abolic diseas
e
i
d process
s
tem
s
tem
e
m
al system an
d
s
ystem
p
uerperium
in the perina
t
a
ct match exa
m
olo
gy
(Short
D
isease
6676008|Ass
o
a
ttribute)|=39
6
a
bnormality)|
3
=
68351006|S
t
u
cture)|}
n
gina
6
87008|Coro
n
6
3698007|Fin
d
2
81007|Myo
c
e
)|}
that among
a
ble 6) can b
e
i
ther directly
d
alignment
i
duals which
v
ision of S
C
examples (
T
e
ms share
t
h
ey differ
i
s
hips of SN
O
a
n be used
f
n
ent class
a
, the ICD Fo
u
o-spastic dis
e
f
iciently def
i
al angina (dis
i
ng relationsh
i
r
epresentatio
n
n
cept, in whi
c
n
ated SNOM
E
C
D-11 chapte
r
0
15)
r
gans
e
s
d
connec-
t
al and
m
ples
Normal For
m
o
ciated
6
339007|Thro
m
3
63698007|Fi
n
t
ructure of ce
r
n
ary artery sp
a
d
ing site
c
ardium struct
u
16,751 ICD
-
e
represented
or through
between t
h
have to be
c
C
T formal m
o
T
ables 3, 4 a
n
t
he same
un
i
n their co
n
O
MED allow
t
fo
r both
t
he
I
a
nd the SN
u
ndation Co
m
e
ase with ang
i
ned by SN
order)”.
i
ps do not pr
o
n
of both enti
t
c
h case the
c
E
D content
m
r
(%)
90%
30%
55%
60%
100%
100%
100%
80%
90%
100%
100%
100%
m
)
m
bus
n
ding
r
ebral
a
sm
u
re
-
11 FC
by the
a pre-
h
e two
c
leaned
o
del of
n
d 5) to
n
iversal
n
tingent
t
he full
I
CD-11
OMED
m
ponent
ina”, is
OMED
o
vide a
t
ies in a
c
oncept
m
ust be
J.-M. Rodrigues et al. / Semantic Alignment between ICD-11 and SNOMED CT792
expanded. An Example is ICD-11 “Acute myocardial
infarction, STEMI anterior wall” that can only be
represented in SNOMED by pre-coordinating
“401303003 |Acute ST segment elevation myocardial
infarction (disorder)” with “54329005 | Acute anterior
myocardial infarction”.
Conclusion
The essence of the ICD-11 SCT semantic alignment is the
establishment of a SNOMED subset with its logical or model
of meaning representation that precisely formalizes the mean-
ing of the content of the ICD-11 Foundation Component, fol-
lowing principles of formal ontology and logic i.e. that is re-
stricted to axioms that express universal truths in terms of
SNOMED concepts. This is clearly distinguished from the
ICD content model on the one hand, which represents contin-
gent knowledge at the level of Foundation Component enti-
ties, and the rules base (Fig. 1, “non-DL entities”), that cannot
be expressed directly in the SNOMED compositional gram-
mar (or any similar logical formalism) and which contains
queries on the common ontology that assure the disjointness
principle in the linearizations created out of them.
Thus, all content of ICD-11, the semantic standard for health
statistics in mortality, morbidity, primary care documentation
Table 6– Match types overall results
Match
Type
Number Common Ontology
Match M 8354
(49.8%)
SCT Short Normal Form
U/A 4933
(29.4%)
To be developped with SCT
grammar and pre-
coordination
U/E 1061
(6.3%)
To be developped with SCT
grammar and post
coordination
U/R 1487
(8.8%)
Navigational/residual
concepts
U/X and
U/EX
916
(5.4%)
Requires clarification
and billing, will be linked to SCT, the most fine grained medi-
cal terminology system, each of which keeps its own profile as
a distinct terminology artifact.
This will require certain refinement and redesign efforts
increasing the quality on both ICD-11 and SNOMED, but this
is an advantage in itself. When finished, users will have at
their disposal two semantically interoperable terminology
systems, each tuned for its specific purposes. In the longer
term, sharing the maintenance between WHO and the
SNOMED authority, IHTSDO, will ease the introduction of
new knowledge sources into the heathcare community.
Further on, this common ontology shall be used for the
maintenance of all of the existing WHO ICD as well as the
ICD-(10/11) national modifications, thereby easing
international comparisons and backward compatibility with
current systems.
Acknowledgments
This work was supported by the World Health Organization
(WHO) and the International Health Terminology Standards
Development Organization (IHTSDO) through their Joint
Advisory Group (JAG).
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Table 4– Pre coordination examples
ICD-11 Rubric Common Ontology
Aldosterone-
producing carcinoma
FSN
Primary hyperaldosteronism due to
aldosterone-secreting malignant
neoplasm of adrenal gland (disorder)
Short Normal Form
116680003 | Is a |88213004 |
Hyperaldosteronism, |42752001 | Due
to|255035007 | Adrenal carcinoma|
Acute myocardial
infarction, STEMI,
anterior wall
FSN
Acute ST segment elevation
myocardial infarction of anterior
wall(disorder)
Short Normal Form
401303003 | Acute ST segment
elevation myocardial infarction | +
54329005 | Acute anterior myocardial
infarction
Table 5– Post coordination examples
ICD-11 Rubric Common Ontology
Asymptomatic
stenosis of
extracranial carotid
artery
116680003 | Is a |230738008 |
Asymptomatic cerebrovascular
disease, |363698007 | Finding
site|17999001 | Structure of cervical
portion of internal carotid artery,
|116676008 | Associated
morphology|415582006 | Stenosis
Internal auditory
artery occlusion
116680003 | Is a |2929001 | Occlusion
of artery, |363698007 | Finding
site|89471000 | Structure of
labyrinthine artery
J.-M. Rodrigues et al. / Semantic Alignment between ICD-11 and SNOMED CT 793
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Address for correspondence
RODRIGUES Jean-Marie <rodrigues@univ-st-etienne.fr>
J.-M. Rodrigues et al. / Semantic Alignment between ICD-11 and SNOMED CT794