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Semantic Web technologies for managing EHR-related clinical knowledge 201

x

Semantic Web technoIogies for managing
EHR-reIated cIinicaI knowIedge

CalaIina Marlnez-Cosla
1
, Marcos Menrguez-Torlosa
1
, }ose AIlerlo
MaIdonado
2
, }esuaIdo Tons Iernndez-reis
1
1
Unitcrsia c Murcia,
2
Unitcrsia Pc|i|ccnica c Va|cncia
Spain

1. Introduction

The Senanlic Wel (erners-Lee el aI, 2OO1) is a vision of lhe fulure Wel in vhich
infornalion is given expIicil neaning, naking il easier for nachines lo aulonalicaIIy
process and inlegrale infornalion avaiIalIe on lhe Wel. Senanlic Wel lechnoIogies
pronise lo le capalIe of faciIilaling lhe nanagenenl of knovIedge and pronole senanlic
inleroperaliIily lelveen syslens. There are differenl lasic lechnoIogies for lhe success of
lhe Senanlic Wel, anongsl vhich lhe cornerslone lechnoIogy is lhe onloIogy. In Iileralure,
nuIlipIe definilions for onloIogy can le found (see for inslance (Cruler, 1993, van Heijsl el
aI, 1997)). An onloIogy represenls a connon, sharealIe and reusalIe viev of a parlicuIar
appIicalion donain, and lhey give neaning lo infornalion slruclures lhal are exchanged ly
infornalion syslens (revsler el aI, 2OO4).
Senanlic Wel lechnoIogies and, in parlicuIar, onloIogies have leen idenlified in lhe finaI
reporl of lhe Senanlic HeaIlh projecl (SenanlicHeaIlh Reporl, 2OO9) as one of lhe lasic
lechnoIogies for lhe conseculion of senanlic inleroperaliIily of heaIlhcare infornalion
syslens. In heaIlhcare, inleroperaliIily refers lo lhe aliIily of differenl syslens and
organizalions lo exchange infornalion and lo use lhe infornalion lhal has leen exchanged.
On lhe olher hand, lhe nedicaI fieId is conlinuaIIy changing, and nev findings aloul
diseases and cIinicaI lrealnenls are conlinuaIIy nade. Huge anounls of helerogeneous
nedicaI infornalion and cIinicaI lerns are generaled. Hovever, lhe slandardizalion of
cIinicaI infornalion and knovIedge has nol leen researched unliI lhe 9Os. RecenlIy, differenl
archileclures for exchanging cIinicaI infornalion and knovIedge have leen proposed, and
lhe duaI nodeI-lased one seens lo le lhe nosl pronising. This slandard archileclure
inlroduces a separalion lelveen knovIedge and infornalion vhere knovIedge refIecls lhe
possilIe changes. This separalion is carried oul ly neans of a doulIe nodeI (eaIe, 2OO1),
lhe reference nodeI and lhe archelype nodeI. The reference nodeI refIecls lhe generic and
slalIe properlies of lhe eIeclronic heaIlhcare record, vhereas lhe archelype nodeI represenls
lhe knovIedge IeveI, and consisls of cIinicaI concepls, caIIed archelypes, lhal are lased inlo
enlilies of lhe corresponding reference nodeI.
Hence, lhe nelhodoIogy for lhe deveIopnenl of heaIlh infornalion syslens is changing and
lhe duaI nodeI approach proposes a senanlic Iayer defined ly lhe archelypes. The
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senanlics in archelypes have a doulIe nalure: slrucluraI and lerninoIogicaI. y slrucluraI,
ve nean lhal lhe proper slruclure of lhe archelype provides sone senanlics. In addilion lo
lhis, an archelype can le seen as a sel of inlerreIaled concepluaI cIinicaI enlilies. Lach enlily
has a sel of lerninoIogicaI lindings associaled, vhich are specified ly neans of Iinks lo
lerns of specific nedicaI lerninoIogies, such as SNOMLD-CT (SNOMLD-CT).
Many nedicaI lerninoIogies have leen recenlIy or are in lhe process of leing represenled in
lhe Wel OnloIogy Language (OWL), lecause ils fornaI nalure aIIovs for a leller
nanagenenl of cIinicaI knovIedge. Iurlhernore, lhe connon represenlalion of archelypes
and lerninoIogies in OWL vouId aIIov a uniforn nanagenenl of cIinicaI knovIedge,
vhich vouId aIso faciIilale lhe conseculion of senanlic inleroperaliIily.
Hence, in lhis chapler ve descrile hov Senanlic Wel lechnoIogies can le used lo nanage
such cIinicaI knovIedge, and has lvo nain slreans:
x Represenlalion of cIinicaI archelypes: CIinicaI archelypes can le represenled as OWL
onloIogies. We viII descrile an approach lhal conlines Senanlic Wel lechnoIogies and
ModeI-driven Lngineering (DougIas el aI., 2OO6) lo achieve lhe goaI. This approach can
le appIied lo any duaI-nodeI lased LHR slandard.
x Managenenl of cIinicaI archelypes: The nanagenenl of cIinicaI archelypes viII le
iIIuslraled ly descriling an LHR-independenl Senanlic Wel syslen for nanaging
archelypes. This syslen aIIovs for annolaling archelypes vilh exlernaI resources,
perforning searches and cIassificalion lasks.

2. EIectronic HeaIthcare Records

HeaIlh infornalion syslens fron hospilaIs and prinary care organizalions are expecled lo
le capalIe of connunicaling lo supporl lhe conlinuous nedicaI process of lhe palienl al
IocaI, regionaI, nalionaI and inlernalionaI IeveI.
The LIeclronic HeaIlhcare Record (LHR), defined as a reposilory of infornalion regarding
lhe heaIlh of a suljecl of care, in conpuler processalIe forn (ISO/TC 215 TR, 2OO8),
conslilules lhe cornerslone lechnoIogy for lhe achievenenl of lhal goaI. Ils prinary purpose
is lo provide a docunenled record of care lhal supporls presenl and fulure care ly lhe sane
or olher cIinicians. Anong olher lenefils, lhe repIacenenl of lhe lradilionaI paper-lased
palienl records vilh LHRs viII increase lhe quaIily and efficiency of lhe palienl nedicaI care
and viII cul lack on cosls.

Novadays lhere are differenl advanced approaches as slandards or specificalions for
represenling and connunicaling LHRs such as HL7 (HL7), OpenLHR (OpenLHR), and LN
136O6 (UNL-LN 136O6).
HL7 slands for HeaIlh LeveI Seven, and vas founded in 1987 lo provide heaIlhcare
slandards for lhe exchange, nanagenenl and inlegralion of cIinicaI infornalion. There are
severaI HL7 inpIenenlalions. Il is vorlh poinling oul HL7 v2.X, lhal is focused on lhe
exchange of nessages and vhich have leen videIy used in Anerica and Lurope ly lhe
induslry. More recenlIy HL7 v3 vas proposed, inlroducing lhe Reference Infornalion
ModeI (RIM) and lhe CIinicaI Docunenl Archileclure (CDA). This Iasl slandard version has
(ISO).
On lhe olher hand, lhe Luropean HeaIlh Record (CLHR) projecl (1991-95) conlriluled lo
deveIop lhe OpenLHR specificalion. IoIIoving CLHR severaI projecls exlended and refined
Semantic Web technologies for managing EHR-related clinical knowledge 203
ils resuIls. AII lhese ones infIuenced lhe crealion of lhe OpenLHR specificalion ly lhe non-
profil organizalion OpenLHR Ioundalion (OpenLHR).
IinaIIy, lhe LN 136O6 slandard vas infIuenced ly OpenLHR. LN 136O6 has leen dravn on
lhe praclicaI experience of ils predecessor LNV 136O6. In facl, il is considered a sulsel of lhe
fuII OpenLHR specificalion orienled lo lhe exchange of LHR exlracls.
olh lhe OpenLHR specificalion and lhe LN 136O6 slandard share lhe sane nodeIIing
archileclure. This archileclure is naned duaI nodeI-lased archileclure and has infIuenced
lhe HL7 v3 slandard. Il is expIained in nexl seclion in delaiI since our vork viII le focused
on lhe senanlic nanagenenl of duaI nodeI-lased slandards.

2.1 DuaI modeI architecture
The nain fealure offered ly lhis nodeIIing archileclure is lhe separalion lelveen
infornalion and knovIedge. On lhe one hand, infornalion is nodeIIed ly neans of a
reference nodeI (RM) and on lhe olher hand, knovIedge is nodeIIed using an archelype
nodeI (AOM). The firsl one is specific lo lhe heaIlhcare donain lul sliII very generic. Il
defines lhe sel of cIasses lhal forns lhe generic luiIding lIocks of lhe LHR and il is slalIe
over line. Pcrscn cr c|inica| scssicn vouId le cIasses of lhis reference nodeI. The second one
represenls heaIlhcare and appIicalion specific concepls such as lhe mcasurcmcn| cf cnc|cs|crc|,
|nc ||cc prcssurc and so on ly using archelypes.
An archelype descriles configuralion of dala inslances vhose cIasses are descriled in lhe
reference nodeI. They are defined using lhe Archelype Definilion Language (ADL). This
Ianguage provides a concrele synlax for expressing lhen as lexl docunenls. Iigure 1
iIIuslrales lhe reIalionships of archelypes vilh dala. Archelypes are inslances of an
archelype nodeI vhich is a connon fornaIisn for expressing aII archelypes. The archelype
oljecl nodeI (righl side) is fornaIIy reIaled lo lhe reference nodeI, such lhal ils senanlics
are lhose of conslrainl on inslances of cIasses defined in lhe reference nodeI (Iefl side). If
dala are crealed and nodified using archelypes, archelypes conslrain lhe configuralion of
dala inslances lo le vaIid according lo lhe archelype.


Iig. 1. Archelype ModeI Mela-archileclure (Mela-Archileclure)
Semantic Web 204
olh OpenLHR and LN 136O6 are lased on lhe duaI nodeI archileclure. Hovever, lhey
differ in hov lhey slruclure lhe LHR donain, lhal is, lhey define differenl reference nodeIs.
Thus, archelypes viII le defined as conslrainls on lhese reference nodeI cIasses for each
slandard and viII le vrillen in ADL.
Iigure 2 shovs an exlracl of an ADL archelype for lhe visuaI acuily recording for lhe LN
136O6 slandard. In lhe figure, lhe differenl ADL seclions of lhe archelype can le olserved:
header, descriplion, definilion and onloIogy. The header incIudes lhe nane of lhe archelype,
speciaIizalion infornalion and so on. In lhe Iigure lhe header incIudes lhe nane of lhe
archelype (C|N-|N13606-|NTRY.tisua|_acui|q.t1), lhe Ianguage il is vrillen in (|SO_639-
1..cn) and lhe archelype concepl code (a|0000). The descriplion seclion incIudes audil
infornalion, such as originaI aulhor, purpose or IifecycIe slalus. The definilion seclion
conlains lhe slruclure and reslriclions associaled lo lhe cIinicaI concepl defined ly lhe
archelype. Here, lhis seclion says lhal visuaI acuily is recorded ly neans of a lalIe, vhose
rov head is Lefl, Righl, olh eyes and vhose coIunns are lhe foIIoving vaIues ("5/6"
,"6/6", "6/7.5", "6/9", "6/12", "6/18", "6/36", "6/6O", "Counl fingers", "Ierceive Iighl",
"Iind"). Thal is, il expresses lhe acuily vaIue of each eye separaleIy and of lolh of lhen
logelher. IinaIIy, lhe onloIogy seclion incIudes lhe lerninoIogicaI definilion and lindings.
In lhis Iasl seclion lhe Iinguislic expressions associaled lo lhe lerns fron lhe definilion parl
are provided, as veII as lheir possilIe lindings in olher lerninoIogies. Ior inslance, lhe Iink
lo lhe SNOMLD-CT lern says hov visuaI acuily is defined in lhe SNOMLD-CT
lerninoIogy.
Archelypes conline lo forn lenpIales. They usuaIIy correspond lo screen forns, prinled
reporls, and in generaI, conpIele appIicalion-IeveI infornalion lo le caplured or senl. They
are generaIIy deveIoped and used IocaIIy, recording lhe specific needs of lhe user or
inslilulion, vhiIe archelypes are usuaIIy videIy used.
In facl, archelypes nay conslilule a cIinicaI guide for cIinicians and ils inporlance can le
noliced in sone acls as lhe adoplion of lhe Luropean LHR LN 136O6 slandard ly Sveden
for lheir nalionaI LHR deveIopnenls (Svedish-decision).

archctypc (adI_version=1.4) CLN-LN136O6-LNTRY.visuaI_acuily.v1
cnnccpt |alOOOOj
!anguagc originaI_Ianguage = <|ISO_639-1::enj>
dcscrIptInn ...
dcfInItInn
ENTRY[at0000] occurrences nalches |1..1 nalches | -- Visua| acui|q
ilens exislence nalches |O..1 cardinaIily nalches |1..1, unordered nalches |
...
CLU5TER[at0003] occurrences nalches |1..1 nalches | -- Ta||c
parls exislence nalches |O..1 cardinaIily nalches |O..1, unordered nalches |
CLU5TER[at0004] occurrences nalches |O..1 nalches | -- rcu
parls exislence nalches |O..1 cardinaIily nalches |2..2, ordered nalches |
ELEMENT[at0005] occurrences nalches |O..1 nalches | -- rcu nca
vaIue nalches |
5IMPLE_TEXT occurrences nalches |1..1 nalches |
originaITexl nalches |"Lefl","Righl","olh eyes"

ELEMENT[at0006] occurrences nalches |1..1 nalches | -- Visua| acui|q
vaIue nalches |
ORD occurrences nalches |1..1 nalches |
synloI nalches |
CODED_TEXT occurrences nalches |1..1 nalches |
codedVaIue nalches |
Semantic Web technologies for managing EHR-related clinical knowledge 205
CD occurrences nalches |1..1 nalches |
dispIayNane nalches |
"5/6","6/6","6/7.5","6/9","6/12","6/18","6/36",
"6/6O","Counl fingers","Ierceive Iighl","Iind"

vaIue nalches |5,6,7,9,12,18,36,6O,1OO,2OO,3OO
...
nntn!ngy
lerninoIogies_avaiIalIe = <"SNOMLD-CT", ...>
lern_definilions = <
|"en"j = <
ilens = <
|"alOOOO"j = <
lexl = <"VisuaI acuily">
descriplion = <"The funclionaI acuily of vision, aided and unaided">
>...
lern_linding = <
|"SNOMLD-CT"j = <
ilens = <
|"alOOOO"j = <|SNOMLD-CT::363983OO7j>
>>>...
Iig. 2. Lxlracl of lhe visuaI acuily LN 136O6 ADL archelype

2.2 ADL Limitations
Despile ADL is lhe Ianguage adopled for lhe archelypes descriplion, il has sone Iinilalions.
The parsing of an ADL archelype viII relurn oljecls according lo lhe Archelype Oljecl
ModeI (AOM). This nodeI is connon lo aII duaI nodeI-lased slandards, lhal is, il viII have
no infornalion aloul lhe parlicuIar reference nodeI for vhich lhe archelype has leen luiIl.
Thus, lhe ollained oljecls cannol le used lo perforn any senanlic aclivily, such as
conparison, seIeclion, or cIassificalion. AIso, il does nol provide any conponenl lhal
guaranlees lhe consislency of lhe cIinicaI knovIedge lul onIy al archelype IeveI, lhal is, lhe
confornance lo ADL/AOM principIes. Therefore, lo process ADL conlenl, lvo eIenenls are
needed: an ADL parser lo gel lhe AOM oljecls and lhe vaIidalor for lhe parlicuIar reference
nodeI lo guaranlee lhe cIinicaI correclness of lhe ADL conlenl. Iigure 3 depicls a fragnenl
of lhe AOM represenlalion of lhe visuaI acuily archelype fron Iigure 2. As il can le
olserved, lhere are no expIicil, senanlic Iinks lelveen lhe oljecls ollained vilh lhe ADL
parser. This Iasl one viII relurn a sel of generic oljecls vhose senanlics is enledded nainIy
in slring fieIds. In lhe figure exanpIe, for inslance, lhe kind of a C_COMP||X_O8]|CT is
shovn ly neans of lhe rmTqpcNamc allrilule. Il viII poinl oul if lhe oljecl refers lo an
|NTRY, C|UST|R, |||M|NT, or any reference nodeI cIass.

Semantic Web 206

Iig. 3. Lxlracl of lhe Archelype Oljecl ModeI of lhe VisuaI Acuily archelype.

Thus, lhe possiliIilies of reasoning over ADL are currenlIy very Iiniled, as veII as lhe
avaiIaliIily of looIs lo use and nanage ADL conlenl is reduced. Il does nol aIIov
perforning any senanlic aclivily on lhen. Hovever a senanlic Ianguage vouId aIIov.

3. Semantic representation of EHR cIinicaI knowIedge

The nain purpose of lhe Senanlic Wel (erners-Lee el aI., 2OO1) is lo provide a franevork
in vhich dala can le shared lelveen appIicalions. In order lo do lhis, nany lechnoIogies
have energed around il vilh lhe ain of giving expIicil neaning lo infornalion, naking il
easier for nachines lo aulonalicaIIy process and inlegrale infornalion. CIinicaI knovIedge,
as alove slaled, is represenled ly neans of archelypes. They are defined using lhe
Archelype Definilion Language (ADL). Hovever, lhis Ianguage has sone Iinilalions (see
seclion 2.2) lhal can le soIved using a senanlic Ianguage. Thus, lhe represenlalion of cIinicaI
knovIedge, archelypes, as onloIogies viII le one of our goaIs and hov lo carry il oul viII le
expIained in lhis seclion.

3.1 The need for a semantic representation
The use of onloIogies for represenling cIinicaI archelypes offers sone lenefils againsl lhe
use of ADL. OnloIogies aIIov perforning lhe nanagenenl of archelypes in an easier and
nore efficienl vay. Aclivilies such as conparison, seIeclion, cIassificalion and consislency
checking can le perforned over onloIogies in a nore generic, easier and efficienl vay.
In lhis vork ve use lhe Wel OnloIogy Language (OWL), vhich is lhe reconnendalion of
lhe W3C for lhe exchange of senanlic conlenl on lhe vel, for lhis purpose. In parlicuIar,
OWL-DL (vhere DL slands for Descriplion Logics) is used, lecause of ils decidaliIily and
conpulaliIily nalure, offering enough expressiveness and lhe possiliIily of reasoning over
lhe infornalion lhal il descriles.
OWL aIIovs naking annolalions on cIasses or properlies and senanlic siniIarily funclions
are aIso avaiIalIe in lhe Senanlic Wel connunily. Thus, lhese resources heIp perforning
aII lhese nanagenenl reIaled lasks. Ior inslance, lhe seIeclion of lhe sel of archelypes lo le
Semantic Web technologies for managing EHR-related clinical knowledge 207
used in a cIinicaI infornalion syslen nay le supporled ly senanlic siniIarily funclions and
ly senanlic search fiIlers lased on lhe annolalions of lhe archelypes.
AIso, anolher lenefil fron lhe use of OWL is reIaled lo lerninoIogies. They are very
inporlanl in lhe nedicaI fieId and sone of lhen such as SNOMLD-CT (SNOMLD-CT) are
currenlIy in lhe process of adapling lheir represenlalion lo Senanlic Wel environnenls, so
lhal OWL nodeIs for lhen are under deveIopnenl. Having lhe represenlalion of lolh
cIinicaI and lerninoIogicaI infornalion in lhe sane fornaIisn vouId faciIilale leller cIinicaI
knovIedge nanagenenl and vouId enrich archelypes ly adding nore infornalion lo lhen.
Moreover, an archelype descriled in OWL nighl guaranlee lhe consislency of lhe
knovIedge vhich cannol le granled ly ADL (see seclion 2.2). To granl il, lhere is lhe need
of inpIenenling addilionaI nechanisns. In addilion lo lhis, lhe access lo cIinicaI
infornalion descriled in OWL can le aIso done in a nore naluraI vay. OWL nodeIIing
lrings aII lhe infornalion concerning a parlicuIar lern logelher (code, definilion, lindings,
lransIalions ...).
Anong ils lenefils, lhe represenlalion of archelypes in OWL nakes lhe use of looIs
deveIoped ly lhe Senanlic Wel connunily possilIe. This connunily has leen vorking for
years in nelhodoIogies and looIs for conparing differenl onloIogies, nerging lhen,
idenlifying inconsislencies and so on. AIso, OWL is conlinuaIIy leing inproved and lhere is
currenlIy a drafl version of OWL 2.O (OWL 2.O). Moreover, differenl lechnoIogies and
Ianguages for querying, defining ruIes and expIoiling OWL conlenl are in progress.

3.2 DeveIopment of an ontoIogicaI representation for EHR cIinicaI knowIedge
The LN 136O6 cIinicaI slandard and lhe OpenLHR specificalion are lased on lhe duaI
nodeI-lased archileclure. So, a firsl slage in our vork vas lo do a senanlic inlerprelalion of
cIinicaI archelypes, anaIyzing lheir reference and archelype nodeIs. Iigure 4 iIIuslrales
sone of lhe nain cIasses of lhe onloIogicaI represenlalion for lhe LN 136O6 slandard case.
As il can le olserved, concepls fron lhe reference and archelype nodeIs are pul logelher
expressing lhe archelype slruclure in a nore conprehensilIe vay. Ior inslance, concepls
such as arcnc|qpc, arcnc|qpc cscrip|icn, arcnc|qpc cscrip|icn i|cm, cccurrcnccs, carina|i|q or
arcnc|qpc |crm exisl in lhe archelype nodeI, lul olher ones, vhich are underIined in lhe
Iigure, such as fc|cr, ccmpcsi|icn, scc|icn, cn|rq, c|cmcn| or c|inica| a|a|qpc leIong lo lhe
reference nodeI. Thus, lhis nodeIIing decision caplures lhe connon fealures of lolh
slandards, lhese are lhe nenlioned archelype nodeI concepls, and aIIovs incIuding lhe
specific concepls lhal exisl in each one. In facl, lhe OpenLHR onloIogicaI represenlalion viII
le siniIar lo lhe shovn in Iigure 4 for LN 136O6 excepl for lhe concepls as fc|cr,
ccmpcsi|icn, scc|icn..., lhal is, lhose vhich leIong lo lhe respeclive reference nodeI.

Semantic Web 208


Iig. 4. Iragnenl of lhe archelype onloIogicaI represenlalion for LN 136O6

As a resuIl of lhe senanlic inlerprelalion process (Iernandez-reis el aI., 2OO6) nade for
lolh slandards, lvo nain onloIogies vere luiIl for each one (see TalIe 2 for delaiIs).
LN136O6-SI and OpenLHR-SI: They represenl lhe cIinicaI dala slruclures and dala
lypes defined in lhe reference nodeI of each slandard.
LN136O6-AR and OpenLHR-AR: They are lhe archelype nodeI onloIogies, lhey
incIude sone cIasses of lhe archelype nodeI, lhose connon lo lolh slandards, and
inporl lhe LN136O6-SI and OpenLHR-SI onloIogies.
TalIe 2 gives nuneric delaiIs of lhese onloIogies in lerns of lhe cIasses, properlies and
reslriclions. These onloIogies aIIov represenling archelypes in a nore naluraI vay lhan
ADL does, and aII lhe infornalion regarding lo lhe sane cIinicaI lern can le accessed
logelher. Moreover, an OWL-lased archelype conslruclion approach nighl guaranlee lhe
consislency of lhe knovIedge, vhich cannol le granled ly ADL.

Ontn!ngy C!asscs DP OP RcstrIctInns
LN136O6-SI
68 16 92 227
LN136O6-AR
122 76 142 462
OpenLHR-SI 87 14 156 3O2
OpenLHR-AR 144 75 21O 524
TalIe 2. DelaiIs of lhe OWL onloIogies, in lerns of cIasses, dala properlies (DI), oljecl
properlies (OI) and reslriclions.


Semantic Web technologies for managing EHR-related clinical knowledge 209
3.3 The methodoIogy for obtaining semantic archetypes
This nelhodoIogy (Marlinez-Cosla el aI., 2OO9) has leen appIied lo OpenLHR specificalion
and LN 136O6 slandard and il has leen deveIoped using ModeI Driven Lngineering (MDL)
lechniques. The use of MDL in lhe deveIopnenl of lhe nelhodoIogy aIIovs lo lake
advanlage of lhe looIs and experience of lhe MDL connunily and lo connunicale differenl
lechnicaI spaces (TS) (Kurlev el aI., 2OO3). The archileclure of lhe soIulion is depicled in
Iigure 5, vhich invoIves four differenl lechnicaI spaces: Crannar, XML, MDL and Senanlic
Wel. The lransfornalion process is divided in lhree phases:
i) Represenlalion of synlaclic archelypes in MDL fron lhe corresponding
represenlalion of archelypes in ADL.
ii) Transfornalion of nodeIs of synlaclic archelypes inlo senanlic ones in MDL.
iii) Ollenlion of OWL senanlic archelypes.


Iig. 5. Archileclure of lhe MelhodoIogy for lransforning ADL archelypes inlo OWL

This lransfornalion process has leen inpIenenled in a looI vhich aIIovs for lransforning
ADL archelypes inlo OWL for lolh LN 136O6 and OpenLHR slandard. This looI is avaiIalIe
onIine (ADL2OWL) and has aIso leen incIuded in lhe LinkLHR edilor (LinkLHR). Nexl, a
nore delaiIed descriplion of lhe proposed nelhodoIogy is given and ils phases are
expIained in deplh and iIIuslraled lhrough lhe running exanpIe for LN 136O6 presenled in
Iigure 2.

3.3.1 Phase I: Representation of syntactic archetypes in MDE
The inpul lo lhe process is an archelype vrillen according lo lhe ADL Crannar (Crannar
TS). This archelype has lo le lransforned inlo a generic nodeI according lo AOM. This
nodeI is generic lecause ils represenlalion is lhe sane for every duaI nodeI-lased
slandard. This lransfornalion is carried oul ly using:
An ADL parser (ADL-Iarser): This is a synlaclic parser for ADL, vhich relurns lhe
archelype as a lree of AOM oljecls.
An XML seriaIizer (XML-SeriaIizer): This lakes an AOM oljecl lree as inpul and
seriaIizes il in XML according lo lhe AOM XML Schena (AOM-Schenas).
The LcIipse ModeIIing Iranevork (LMI): Il ollains a nelanodeI fron lhe AOM
XML Schena and aIIovs for seriaIizing lhe previousIy ollained XML archelype as
a nodeI. Hence, lhe synlaclic represenlalion of archelypes is expressed in MDL.

Semantic Web 210
Al lhe end of lhis firsl phase a change of lechnicaI space has leen produced, fron Crannar
TS lo MDL. Iigure 6 shovs a fragnenl of lhe resuIling AOM nodeI for lhe VisuaI Acuily
archelype exanpIe of Iigure 2. Il viII le expIained nore delaiIed Ialer in lhis seclion.

Iig. 6. The AOM nodeI of lhe archelype ollained in phase I

3.3.2 Phase II: Transformation of modeIs of syntactic archetypes into semantic ones
in MDE
The second phase is carried oul in lhe MDL space, and viII nake use lhe MDL
represenlalion of lhe archelype nodeIs used in lolh lhe Crannar and lhe Senanlic Wel TS
lo faciIilale lhe lransfornalion of archelypes fron Crannar lo Senanlic Wel. This requires
lhe execulion of lvo lasks:
MDL represenlalion of lhe senanlic nodeIs for lhe LHR slandards. In order lo
nake lhe lransfornalion, ve need lo ollain lhe nelanodeIs for lhe senanlic
inlerprelalion of lhe LHR slandards. In lhis vork, nelanodeIs for lhe CLN-AR and
OpenLHR-AR onloIogies are ollained as a resuIl of lhis lask. The ODM slandard
(ODM) defines lhe represenlalion of OWL onloIogies in MDL TS. Irolege (Irolege)
inpIenenls lhe lransfornalion fron OWL lo MDL TS and lhis vas lhe lechnicaI
soIulion used lo gel lhe nelanodeIs fron lhose onloIogies.

Semantic Web technologies for managing EHR-related clinical knowledge 211
Definilion of lhe lransfornalions lelveen lhe synlaclic and lhe senanlic
represenlalion in MDL. This lask defines hov lo ollain a senanlic archelype fron
a synlaclic one. A nodeI lransfornalion Ianguage, RulyTL (Sanchez-Cuadrado el
aI., 2OO6), has leen used lo define lhe corresponding sel of lransfornalion ruIes lo
gel senanlic archelype nodeIs fron AOM nodeIs.

Iigure 7 depicls lhe corresponding senanlic nodeI ollained afler perforning lhe previous
lasks over lhe AOM represenlalion of lhe VisuaI Acuily archelype. Lel us lriefIy descrile
sone of lhe correspondences lelveen lolh nelanodeIs (lhe AOM nelanodeI and lhe
senanlic one) for lhe LN 136O6 slandard. According lo lhe AOM, oljecls are represenled as
C_COMP||X_O8]|CT and allrilules as C_ATTR|8UT|
(C_S|NG||_ATTR|8UT|/C_MU|T|P||_ATTR|8UT|). If lhe definilionaI parl of lhe visuaI
acuily archelype is anaIyzed lhe AOM nodeI viII le conposed of:
Nine C_COMP||X_O8]|CT having lhe foIIoving vaIues for lhe pair (rmTqpcNamc,
ncc|): (1)(LNTRY,alOOOO), (2)(CLUSTLR, alOOO3),
(3)(CLUSTLR,alOOO4), (4)(LLLMLNT, alOOO5), (5)(SIMILL_TLXT,),
(6)(LLLMLNT,alOOOO6), (7)(ORD,)., (8)(CODLD_TLXT,), (9)(CD,).

Ten C_ATTR|8UT|S oljecls having lhe vaIue for (rmA||ri|u|cNamc): (1)(ilens),
(2)(parls), (3)(parls), (4)(vaIue), (5)(originaITexl), (6)(vaIue),
(7)(synloI), (8)(vaIue), (9)(codedVaIue), (1O)(dispIayNane).

The generic nalure of AOM nakes il inpossilIe lo nake lhe senanlics of lhese oljecls
expIicil, and il is enledded inlo lhe slring allrilules rmTqpcNamc and rmA||ri|u|cNamc. y
anaIyzing lhe vaIue of lhese properlies, lhe foIIoving nappings lo lhe corresponding LN
136O6 onloIogy nodeI can le defined:
Nine C_COMP||X_O8]|CT are converled inlo lhe foIIoving specific eIenenls
fron LN 136O6 reference nodeI: (1)(LNTRY), (2)(CLUSTLR), (3)(CLUSTLR),
(4)(LLLMLNT), (5)(SIMILL_TLXT), (6)(LLLMLNT), (7)(ORD), (8)(CODLD_TLXT),
(9)(CD).

Ten C_ATTRIUTL are converled inlo specific allrilules of lhe previous
nenlioned lypes fron lhe reference nodeI: (1)(ilens), (2)(parls), (3)(parls),
(4)(vaIue), (5)(originaITexl), (6)(vaIue), (7)(synloI), (8)(vaIue), (9)(codedVaIue),
(1O)(dispIayNane).


Semantic Web 212

Iig. 7. OnloIogy nodeI of lhe archelype ollained in phase II

3.3.3 Phase III: Obtention of OWL semantic archetypes
IinaIIy, archelypes have lo le expressed in OWL. In parlicuIar, an archelype viII le
represenled as an individuaI of lhe cIass ARCH|TYP| of lhe onloIogy of lhe parlicuIar
slandard. This lransfornalion inpIies anolher lechnicaI space change: fron MDL TS lo
Senanlic Wel TS. Ior lhis purpose, lhe process has lo le fornaIized ly specifying lhe
lransfornalion ruIes lhal vouId produce OWL archelypes fron lhe senanlic ones. These
ruIes have leen vrillen using lhe nodeI lo lexl lransfornalion Ianguage MOIScripl
(MOIScripl). The resuIl of lhis phase viII le lhe OWL represenlalion of lhe archelype vhich
fragnenl is shovn in figure 8.

Iigure 8 depicls a fragnenl of lhe OWL represenlalion of lhe ADL archelype inlroduced in
Seclion 2. As il can le olserved, an cn|rq, vhich is a sullype of arcnc|qpc |crm, has severaI
properlies as ils ccc, cfini|icn, cccurrcnccs or |ining lo lhe SNOMLD-CT lerninoIogy
anong olhers. In conlrasl, in lhe ADL archelype represenlalion lhis infornalion has lo le
found ly slring nalching of sone oljecl allrilules. Ior inslance, lhe definilion of lhis enlry
in lhe exanpIe shouId le found ly Iooking up lhe definilion lern vhich code nalches vilh
lhe enlry code (a|0000). The sane silualion occurs vilh ils lindings or possilIe lransIalions.

<`xnI version = "1.O" encoding="ISO-8859-1"`>
<rdf:RDI
xnIns:cen-archelype="hllp://kIl.inf.un.es/~cali/onloIogies/CLN-AR-v2.O.ovI#"
...
<ovI:OnloIogy rdf:aloul=> .. </ovI:OnloIogy>
...
<cen:LNTRY rdf:ID="cen_LNTRY_749d135a-flc5-4lf5-l761-46ac7O728eO9">
<cen:cen_archelype_id rdf:dalalype="hllp://vvv.v3.org/2OO1/XMLSchena#slring">
at0000
</cen:cen_archelype_id>
<cen-archelype:has_occurrence_conslrainl> ... </cen_archelype:has_occurrence_conslrainl>
<cen-archelype:TLRM_DLIINITIONrdf:ID="TLRM_DLIINITION_l5476f5a">
<cen-archelype:lexl rdf:dalalype="hllp://vvv.v3.org/2OO1/XMLSchena#slring">
VIsua! acuIty
Semantic Web technologies for managing EHR-related clinical knowledge 213
</cen-archelype:lexl>
<cen-archelype:descriplion rdf:dalalype="hllp://vvv.v3.org/2OO1/XMLSchena#slring">
Thc functInna! acuIty nf vIsInn, aIdcd and unaIdcd
</cen-archelype:descriplion>
</cen-archelype:TLRM_DLIINITION>
<cen-archelype:TLRM_INDINC rdf:ID="TLRM_INDINC_O8l2e63O">
<cen-archelype:code_lerninoIogy rdf:dalalype=
hllp://vvv.v3.org/2OO1/XMLSchena#slring>
363983007
</cen-archelype:code_lerninoIogy>
</cen-archelype:TLRM_INDINC>
<cen:cen_ilens>
...
</cen:cen_ilens>
...
</rdf:RDI>
Iig. 8. Lxlracl of lhe OWL represenlalion of lhe visuaI acuily LN 136O6 archelype

4. EHR cIinicaI knowIedge management

In lhe previous seclion, lhe nelhodoIogy for ollaining OWL archelypes has leen descriled.
The nolivalion for lhis vas aIso inlroduced in lhal seclion. There, il vas slaled lhal
senanlic aclivilies couId nol le efficienlIy done vilh ADL lul vilh OWL. Hence, once
archelypes are expressed as senanlic archelypes in OWL, lhey can lenefil fron lhe
Senanlic Wel lechnoIogies. In lhis seclion, hov such senanlic aclivilies can le perforned
on archelypes is descriled.
The Archelype Managenenl Syslen (ArchMS) (Iernandez-reis el aI., 2OO8) has leen
deveIoped ly our research group as lhe lechnoIogicaI soIulion of lhe senanlic nanagenenl
of archelypes. The oljeclive of lhis syslen is lo supporl lhe execulion of cIinicaI, senanlics
aclivilies over archelypes. ArchMS is luiIl on lhe idea of a virluaI archelype reposilory for
duaI-nodeI lased LHR slandards, vhose lasic unil is lhe archelype. In lhis vay, il is
capalIe of vorking vilh any duaI nodeI-lased LHR slandard. Civen ils virluaI nalure,
archelypes are nol physicaIIy slored in lhe syslen lul lheir corresponding URI. Hence,
lalch processing for ensuring lhe vaIidily of lhe Iinks are required.
The currenl inpIenenlalion of lhe syslen aIIovs for vorking vilh lolh LN136O6 and
OpenLHR archelypes. Il aIso aIIovs perforning lvo nain lypes of aclivilies vilh
archelypes, naneIy, cIassificalion and search, vhich are descriled in lhe nexl sulseclions.
olh ADL and OWL archelypes can le inpul lo lhe syslen, aIlhough lhe senanlic aclivilies
are Iaunched on lhe OWL ones, so lhe ADL2OWL lransfornalion descriled in lhe previous
seclion vouId le execuled for lhose suppIied in ADL. The lransforned archelypes are
slored in lhe syslen. Iurlhernore, lhe senanlic aclivilies are currenlIy perforned over lhe
lase of archelypes of lhe sane LHR slandard, since lhe senanlic inleroperaliIily of
LN136O6 and OpenLHR archelypes has nol leen achieved yel.

4.1 CIassification of Archetypes
As il has aIready leen nenlioned in lhis chapler, cIinicaI archelypes are specificalions of
cIinicaI concepls lhal guide cIinicaI praclice and can le considered a lenpIale for dala
acquisilion. Hence, lhe organizalion of archelypes is a crilicaI issue for oplinizing lheir use,
Semantic Web 214
and faciIilaling lheir sharing and reuse. Indeed, lhis vouId pronole lhe honogeneous
cIinicaI praclice and faciIilale lhe exchange of cIinicaI infornalion across heaIlhcare
inslilulions.
In lhis vork, lhe organizalion of lhe archelypes is provided ly neans of annolalions, vhich
can le defined in ArchMS vilh differenl granuIarily. The purpose of lhe annolalion is nol lo
faciIilale lhe navigalion of lhe archelype reposilory for hunans lul lo add senanlic
neladala lo lhe archelypes, so lhose can le used lo supporl senanlic aclivilies. Hence,
senanlic annolalions are provided. Ior lhis purpose, ArchMS nakes use of an onloIogy of
annolalions, vhich nodeI hov annolalions are associaled lo archelypes. This senanlic
neladala can le associaled lo a conpIele archelype or a lern of il. In order lo conpIele lhe
definilion process of lhe annolalion, a cIassificalion resource is needed. The annolalions of
lhe (parls of lhe) archelype have lo le done vilh respecl lo an OWL cIassificalion resource.
Any lype of donain onloIogy can le lhen used for annolalion purposes. In lhis vay,
differenl lypes of annolalions can le done, depending on lhe lype of cIassificalion resource.
On lhe one hand, governance onloIogies nighl le used. This vouId aIIov for annolaling lhe
archelype according lo lheir polenliaI usage and appIicalion lo parlicuIar palienls, nedicaI
areas, elc. On lhe olher hand, lerninoIogicaI annolalions couId le used, providing lhe
cIinicaI neaning of lhe lerns of lhe archelype.
Iigure 9 shovs hov annolalions are crealed. In lhis exanpIe, lhe running visuaI acuily
exanpIe of Iigure 2 is associaled lo lhe eye concepl defined in MLSH (MLSH), vhose code
is MLSH_A.O1.456.5O5.42O, vhich lhe code for lhe eye. This annolalion represenls lhal such
archelype is reIaled lo lhe eye. The seIecled archelype is shovn on lhe Iefl, vhereas lhe
cIassifier resource appears on lhe righl. Since lolh are OWL conlenl, lhey can le visuaIIy
represenled and lrovsed as lrees, vhose rool nodes are, respecliveIy, lhe archelype and lhe
cIassifier resource. As a resuIl of lhis annolalion, nev senanlic neladala are added inlo lhe
syslen for furlher expIoilalion, since lhe definilion incIuded in lhe archelype is enriched ly
lhe senanlics associaled fron lhe MLSH onloIogy.


Iig. 9. Annolaling lhe visuaI acuily archelype in ArchMS

Semantic Web technologies for managing EHR-related clinical knowledge 215
4.2 Search
Senanlic annolalions are used in ArchMS for faciIilaling lhe organizalion of lhe archelypes
in lhe reposilory and for supporling senanlic search processes. ArchMS aIIovs for lhe
execulion of differenl lypes of searches on lhe virluaI lase of archelypes, lhus expIoiling lhe
reposilory in differenl dinensions. In generaI, lvo nain searches can le perforned: for
siniIar archelypes, and for archelypes hoIding sone properlies, vhich are descriled nexl.
On lhe one hand, siniIar archelypes lo a given one can le found ly doing senanlic
conparisons in lhe conlexl of lhe archelype onloIogy avaiIalIe for lhe parlicuIar slandard.
Archelypes are inslances of lhal onloIogy, so lhal inslances conparison nechanisns can le
appIied. These nechanisns vouId lake inlo accounl lhe foIIoving calegories:
x ConcepluaI proxinily: Il caIcuIales lhe onloIogicaI dislance lelveen lhe cIasses in lhe
onloIogy. Ior inslance, in lhe conlexl of OpenLHR, lvo Olservalion archelypes vouId
le cIoser and, lherefore, nore siniIar lhan an Olservalion and a IoIder.
x Annolalions siniIarily: The annolalions siniIarily conpares lhe annolalions associaled
lo lhe archelypes. Ior lhis purpose, lhe annolalions done vilh ArchMS are used.
x Iroperly siniIarily: Il conpares lhe sels of properlies defined for each archelype, lhal
is, allrilules and reIalions, incIuding lhe annolalions for each properly.
x Linguislic proxinily: Il lakes inlo accounl exlernaI resources lo delernine senanlic
dislance lelveen lhe nedicaI concepls defined in lhe archelype. Ior lhis purpose, lvo
exlernaI resources are used: Wordnel (Wordnel) and lhe UMLS nelalhesaurus (UMLS).
Wordnel is nore generaI, vhereas UMLS is nore exhauslive for nedicaI donains. In
order lo caIcuIale lhe siniIarily, hiperonyny and hoIonyny are lhe reIalions used.
The previous funclion relurns a vaIue lelveen O and 1 for every pair of archelypes. Hence,
lhe resuIl of lhis search is a Iisl of archelypes vhich is sorled ly decreasing siniIarily. The
nosl siniIar archelypes viII lhen appear firsl.
This lype of search is lhe lase for suggesling annolalions for nev archelypes. In lhis vay,
lhe properlies of lhe nosl siniIar archelypes can le dispIayed lo lhe user, vhich nay decide
lo add such annolalions lo lhe nev archelype.
On lhe olher hand, users can search for lhe archelypes lhal hoId sone properlies. These can
le eilher definilionaI or annolalions properlies:
x DefinilionaI properlies: They are defined in lhe proper slruclure of lhe archelype,
nainIy associaled lo lhe cIinicaI dala lypes and slruclures. Ior inslance, ve nighl le
Iooking for archelypes vrillen in a parlicuIar Ianguage, incIuding an eIenenl neasured
in a cerlain unil, and so on.
x Annolalion properlies: They are lhe annolalions associaled lo lhe archelype vilhin lhe
ArchMS syslen. Ior inslance, ve nighl le Iooking for archelypes reIaled lo a parlicuIar
analonic parl, lo a parlicuIar disease, for parlicuIar lypes of palienls, and so on.
The queries can le nixed, lhal is, lhey can incIude lolh definilionaI and annolalion
properlies. The resuIl of lhis query is lhe sel of archelypes lhal hoId al Ieasl one of lhe
requesled properlies. This sel of archelypes is shovn sorled ly decreasing nunler of
properlies heId. The archelypes hoIding nore properlies viII lhen appear firsl.

5. ConcIusions

In lhis chapler ve have presenled an approach for nanaging LHR-reIaled cIinicaI
knovIedge fron a Senanlic Wel perspeclive. This efforl conslilules an iniliaI slep in lhe
Semantic Web 216
conlexl of lhe chaIIenging lask of achieving senanlic inleroperaliIily lelveen LHR syslens.
This vouId aIIov heaIlh care professionaIs lo nanage lhe conpIele LHR of palienls,
independenlIy fron vhich inslilulion generaled each cIinicaI session. Senanlic
inleroperaliIily is lhen an essenliaI faclor for inproving lhe quaIily and safely of palienl
care, pulIic heaIlh, cIinicaI research, and heaIlh service nanagenenl.
To our opinion, lhe duaI nodeI-lased archileclure lhal dislinguishes lvo nodeIIing IeveIs,
infornalion and knovIedge, is lhe nosl suilalIe candidale for lhal purpose. In lhis
archileclure, archelypes represenl lhe knovIedge IeveI and are an essenliaI a looI for
luiIding cIinicaI consensus in a consislenl vay and are considered lasic lo deIiver fuIIy
inleroperalIe LHRs (KaIra el aI., 2OO8). Archelypes are defined ly cIinicaI donain experls
using ADL, vhich is a generic Ianguage lhal does nol supporl lhe execulion of senanlic
aclivilies. A significanl facl of lhe inporlance of lhe duaI nodeI archileclure and archelypes
is lhe adoplion of lhe Luropean LHR LN 136O6 slandard ly Sveden for lheir nalionaI LHR
deveIopnenls. Ils usefuIness is aIso slrongIy enphasized and ils usage reconnended ly lhe
finaI reporl of lhe Senanlic HeaIlh projecl (SenanlicHeaIlh Reporl, 2OO9).
Hence, in lhis chapler a represenlalion of archelypes using OWL has leen proposed. This
required lhe conslruclion of OWL onloIogies for LHR slandards such as LN 136O6 and
OpenLHR slandards. Ior lhis, lhe slandards vere senanlicaIIy inlerpreled. A nelhod for
lransforning ADL archelypes inlo OWL has aIso leen presenled in lhis chapler, lecause
lhis aIIovs perforning senanlic aclivilies such as conparison, seIeclion, cIassificalion and
consislency checking in a nore generic, easier and nore efficienl vay. The OWL lechnoIogy
supporls archelype nanagenenl-reIaled lasks, such as lhe seIeclion of archelypes lo le used
in a heaIlh infornalion syslen, lhe enrichnenl of archelypes lased on lhe senanlics of
reIaled-ones, and so on, vhich are sone of lhe archelype nanagenenl faciIilies offered ly
ArchMS, vhich has aIso leen presenled in lhis chapler. This syslen aIIovs for annolaling
archelypes and perforns differenl lypes of senanlic searches on virluaI archelypes
reposilories.
As furlher vork, ve viII deveIop Senanlic Wel-lased nechanisns for lransforning
OpenLHR archelypes inlo LN 136O6 and vice versa, vilh lhe ain of achieving lhe senanlic
inleroperaliIily lelveen lhese lvo duaI nodeI slandards. The senanlic inlegralion of
lerninoIogies such as SNOMLD-CT and our resuIls shouId aIso le researched lo enhance
lhe execulion of lhe senanlic processes. IinaIIy, ve are aIso deveIoping looIs lased on lhe
senanlic represenlalion of archelypes for supporling lhe coIIaloralive conslruclion of
archelypes and lhe aulonalic generalion of vel dala forns.

6. AcknowIedgements

This vork has leen possilIe lhanks lo lhe Spanish Minislry of Science and Innovalion
lhrough projecl TSI2OO7-66575-CO2 and lo lhe Spanish Minislry of Induslry, Tourisn and
Connerce lhrough projecl TSI-O2O1OO-2OO8-577.

7. References

ADL-Iarser. hllp://vvv.openehr.org/svn/ref_inpI_java/lrunk/adIparser/
ADL2OWL. hllp://kIl.inf.un.es/~cali/AdI2OvI.hln
AOM-Shenas. hllp://vvv.openehr.org/reIeases/1.O.2/ils/XML-schena/index.hlnI
Semantic Web technologies for managing EHR-related clinical knowledge 217
eaIe, T. (2OO1). Archelypes, Conslrainl-lased Donain ModeIs for Iulure-proof Infornalion
Syslens. hllp://vvv.deeplhoughl.con.au/il/ archelypes/archelypes.pdf
erners-Lee, T., HendIer, }. & LassiIa, O. (2OO1). The senanlic vel, Scienlific Anerican, May
2OO1 pp. 29-37
revsler, C., OHara, K., IuIIer, S., WiIks, Y., Iranconi, L., Musen, M.A., LIInan, }.,
uckinhan Shun, S. (2OO4) KnovIedge Represenlalion vilh OnloIogies: The
Iresenl and Iulure. ILLL InleIIigenl Syslens voI 19(1): 72-81
DougIas C. Schnidl. (2OO6) Cuesl Ldilor's Inlroduclion: ModeI-Driven Lngineering,
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