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Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

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Engineering Science and Technology,


an International Journal
journal homepage: www.elsevier.com/locate/jestch

Full Length Article

A fuzzy ontology modeling for case base knowledge in diabetes mellitus


domain
Shaker El-Sappagh a, Mohammed Elmogy b,⇑
a
Faculty of Computers & Information, Minia University, Egypt
b
Faculty of Computers & Information, Mansoura University, Egypt

a r t i c l e i n f o a b s t r a c t

Article history: Knowledge-Intensive Case-Based Reasoning Systems (KI-CBR) mainly depend on ontologies. Ontology
Received 29 December 2016 can play the role of case-base knowledge. The combination of ontology and fuzzy logic reasoning is crit-
Revised 22 March 2017 ical in the medical domain. Case-base representation based on fuzzy ontology is expected to enhance the
Accepted 27 March 2017
semantic and storage of CBR knowledge-base. This paper provides an advancement to the research of dia-
Available online 29 April 2017
betes diagnosis CBR by proposing a novel case-base fuzzy OWL2 ontology (CBRDiabOnto). This ontology
can be considered as the first fuzzy case-base ontology in the medical domain. It is based on a case-base
Keywords:
fuzzy Extended Entity Relation (EER) data model. It contains 63 (fuzzy) classes, 54 (fuzzy) object proper-
Case-based reasoning
Semantic retrieval
ties, 138 (fuzzy) datatype properties, and 105 fuzzy datatypes. We populated the ontology with 60 cases
Case base representation and used SPARQL-DL for its query. The evaluation of CBRDiabOnto shows that it is accurate, consistent,
Fuzzy ontology and cover terminologies and logic of diabetes mellitus diagnosis.
Diabetes diagnosis Ó 2017 Karabuk University. Publishing services by Elsevier B.V. This is an open access article under the CC
BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

1. Introduction has not been handled in KI-CBR paradigm yet [3]. Medical data, such
as DM diagnosis, are mostly imprecise and experience-based. The
Knowledge Intensive Case-Based Reasoning (KI-CBR) success success of CBR in this domain depends on how this issue is handled.
depends on its Case Base (CB) structure and content. Ontology con- According to Zadeh [63], much of the human experience knowl-
structs domain knowledge in a machine-readable format that edge is imprecise and inaccurate. This knowledge has to be manip-
humans are capable of understanding. It can be used in CBR sys- ulated in a suitable way to prevent the poor effectiveness of
tems as a knowledge representation formalism for specifying knowledge-based systems. Fuzzy sets have been integrated with
domain background knowledge and CB knowledge [6]. KI-CBR CBR to generate Fuzzy-CBR in many studies as [31]. However, they
enables automatic reasoning with semantic knowledge in addition did not utilize Fuzzy Ontology (FO) for case representation and
to the syntactic properties of cases. Ontology supports the creation case retrieval causes CBR systems, which can lose many semantic
of semantic retrieval algorithms to enhance the intelligence of CBR reasoning capabilities [3]. A mechanism is required to utilize ontol-
systems [14]. It provides a conceptualization of the domain, which ogy as the ‘‘vehicle” for the introduction of fuzzy semantics to KI-
consists of concepts, properties, and axioms. It has been utilized in CBR. FO integrates fuzzy set theory into crisp ontology logic, tools,
many medical [15] and non-medical [6] CBR systems. and languages [18]. Bobillo and Straccia [9] proposed an extension
For diabetes mellitus (DM) diagnosis, ontology has not been uti- for crisp OWL 2 to generate fuzzy OWL 2 ontologies. The fuzzifica-
lized in CB, background knowledge, and case retrieval. A crisp CB tion of a crisp ontology needs translation into a supported lan-
OWL 2 ontology for DM diagnosis is proposed by El-Sappagh guage of an FO reasoner such as fuzzyDL [9]. We assert that FO
et al. [22], a background domain ontology based on SNOMED CT1 supports crisp aspects as well as fuzzy aspects. For example, in
(SCT) [23], a CB preparation model from Electronic Health Record DM diagnosis domain, there are crisp components (such as sex
(HER) data [24], and encoded the CB based on a proposed encoding and residence), fuzzy components (such as age and lab tests), and
methodology [27]. Nevertheless, the knowledge imprecision issue semantic components (such as diseases), which are related to other
ontology, such as SCT.
Fuzzy ontologies have been used in many domains. For exam-
⇑ Corresponding author. ple, Rodríguez et al. [57] proposed an FO to model human behavior.
E-mail address: melmogy@mans.edu.eg (M. Elmogy). Ali et al. [5] used it in opinion mining. Lee et al. [43,44] used FO and
Peer review under responsibility of Karabuk University. fuzzy set for modeling diabetes application in diet and diagnosis.
1
http://www.ihtsdo.org/snomed-ct/.

http://dx.doi.org/10.1016/j.jestch.2017.03.009
2215-0986/Ó 2017 Karabuk University. Publishing services by Elsevier B.V.
This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
1026 S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

Moreover, it has been managed in some AI systems as rule-based vices based on CBR. El-Sappagh et al. [23] proposed a diabetes
systems [45]. The usage of FO with rule-based systems is less domain ontology for CBR system based on SNOMED CT. However,
applicable than other systems because these systems require col- the CBR system fundamentally depends on the case-base knowl-
lecting explicit models of domains. For DM, it is a challenge to col- edge representation [30]. As a result, Heras et al. [38] proposed a
lect the set of rules that model it. Therefore, it is possible to crisp case-base ontology for case-based argumentation system
develop CBs that avoid the knowledge-acquisition bottleneck. FO entitled ArgCBROnto. Zhukova et al. [65] proposed a crisp case-
extends the capabilities of the crisp one and improves the accuracy base ontology for a human resource management system. In the
and applicability of CBR in medical domain [3]. diabetes domain, ontologies have been used in many CDSS
Park et al. [52] utilized crisp ontology in a fuzzy CBR system for [61,54]. However, regarding diabetes diagnosis, none of the exist-
the prevention ships collision. Alexopoulos et al. [3] tried to build ing ontologies is designed for CBR, and few studies have used
an FO for CBR using fuzzy algebra. Their proposed ontology has ontology in CBR [61,40]; these studies are very abstract and use
been designed for electronic libraries. However, utilizing relational ontology only for domain knowledge. Jaya and Uma [39] listed
databases and conceptual data models for building fuzzy ontolo- the roles of ontology in a diabetes diagnosis CBR. El-Sappagh
gies is the most suitable form to build CB fuzzy ontology. Conse- et al. [22] proposed a crisp OWL 2 ontology for diabetes diagnosis
quently, the patient CB is often gotten from EHR database of case-base. This ontology can be used to store and retrieve cases
patient histories [10]. There is little research in FO in any medical semantically. On the other hand, diabetes diagnosis depends on
CBR systems. As far as we know, there are no studies in the litera- the physician’s experience and the patient’s description of his case.
ture that proposed a DM diagnosis fuzzy CB ontology. Vagueness in medical domains can be handled using fuzzy logic
Fuzzy CB ontology can be created from many sources [64]. The [63], which has been used in diabetes diagnosis rule-based systems
translation of fuzzy EER model other than its relational schema is [45]. Moreover, fuzzy logic has been integrated with CBR in hybrid
better because EER is richer in semantic, and EER model is closely systems [1] and used for calculating the fuzzy similarity between
related to ontology structure [64]. Moreover, many studies pro- cases [41]. Recently, Sohn et al. [59] integrated fuzzy CBR reason-
posed mappings from fuzzy EER model to FO [46]. Besides, chronic ing with crisp ontology reasoning for personalized service in a
diseases management requires collecting cases from the patient’s smart home environment. However, this hybrid system did not
(distributed) EHR. El-Sappagh et al. [25] proposed a case base data benefit from fuzzy ontology reasoning capabilities.
model using HL7 RIM.2 A method is required to fuzzify this model After the success of crisp ontologies in CBR environment, fuzzy
and map it to a fuzzy CB ontology. Because ontology provides a for- ontologies can extend the benefits of crisp ontologies [4]. Building
mal representation of a shared conceptualization, the CB FO can be a case-base fuzzy ontology is a challenge [52]. Alexopoulos et al.
combined with DM standard domain ontology to support the sharing [3] proposed a fuzzy case-base ontology by utilizing fuzzy algebra.
and interoperability with EHR environment [23]. Although there are With respect to diabetes, it has utilized fuzzy ontologies in many
many studies in fuzzy EER models creation and translation into fuzzy domains [45,44]. Lee and Wang [45] proposed a five-layer fuzzy
ontologies and fuzzy DLs [46,47], few studies utilized their results in ontology and utilized it in a fuzzy expert system for diabetes man-
CBR especially in medical domains as DM diagnosis. Most fuzzifica- agement. Lee et al. [44] proposed a type-2 fuzzy ontology for diet
tion strategies of EER models depend on one linguistic value to rep- management in diabetics. Although CBR is more suitable for
resent a feature [12]. These approaches limit the flexibility of query managing ill-formed problems as diabetes diagnosis, there is no
problem description. They limit the retrieval algorithms efficiency. fuzzy ontology-based CBR for diabetes, and there are no studies
The paper proposes a strategy to solve this issue. for case-base fuzzy ontology construction. Crisp ontologies are
In this paper, we designed a new ontology called CBRDiabOnto. not suitable to address imprecise and vague knowledge, which is
It is an OWL 2 fuzzy CB ontology to represent DM diagnosis knowl- inherent in real-world domains [57].
edge for any CBR system. The paper concentrates on the knowledge There are many techniques for developing crisp ontology [22].
representation formalism of CB fuzzy ontology. This ontology has However, they are not sufficient for fuzzy ontology construction
been used to build a whole CBR system [26]. Different types of fea- [64]. Many techniques are available to generate fuzzy ontology
tures including text, ordinal, semantic, numerical, and fuzzy types including: extend an existing crisp ontology [4], map relational
can be modeled by the proposed ontology. As a result, the resulting database schema, map fuzzy ER model [64], map fuzzy EER model
knowledge base supports many types of reasoning, such as seman- [64], fuzzy formal concept analysis [19], and other data sources.
tic, crisp, and fuzzy reasoning, in fuzzy CBR system. The rest of this The difference between these approaches is mainly in what aspects
paper is organized as follows. Section 2 provides the process of of the crisp ontology are being fuzzified, and these aspects depend
constructing CBRDiabOnto fuzzy CB ontology. Section 3 is the on the domain needs. Representation languages such as OWL 2
querying method for the CB ontology. Section 4 evaluates the pro- need to be able to represent fuzzy ontologies. There are two ways
posed fuzzy ontology. Finally, Section 5 presents the conclusion either extend the language itself [60], which changes the structure
and future work. of the language or using the current language to represent fuzzy
aspects. Bobillo and Straccia [9] have used annotations to represent
fuzzy in regular OWL 2.3 We will depend on the second choice by
2. Related work proposing a fuzzy case-base ontology structure (TBOX) based on a
case base EER model. This EER model is extended to fuzzy EER model
Traditional CBR has been used for diabetes diagnosis in many based on fuzzy set theory and then converted to fuzzy OWL 2 ontol-
studies [48,40]. An evolution of this paradigm is the ontology- ogy. Moreover, we populate the resulting ontology with the case
based or KI-CBR [6]. Ontology plays many roles to enhance CBR from EHR database (ABOX), and we provide a way for semantically
semantics [20]. This approach is generally more effective in repre- querying the resulting case base ontology. The paper has the follow-
senting, indexing, maintaining, adapting, and retrieving similar ing contributions:
cases than traditional ones [30,37]. Case semantic retrieval can
be enhanced by using case-base and domain background knowl- 1. We proposed an EER data model for the DM diagnosis CB
edge in the form of ontologies [30]. Amailef and Lu [6] proposed according to our CB schema [26].
a domain ontology for m-government emergency response ser-

2 3
http://www.hl7.org/implement/standards/rim.cfm. http://www.straccia.info/software/FuzzyOWL/.
S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040 1027

2. We fuzzified this model into a fuzzy EER model using fuzzy set model for our CB crisp EER has been described in [27]. Each patient
theory. is a case represented by a row or vector in this data model. A case is
3. We proposed a method to map the fuzzy EER model to a fuzzy an aggregation of 10 entities. These entities have 70 features. The
CB ontology and implement this ontology in OWL 2 using a patient is described by these features, and the CBR system will sug-
protégé 4.3 fuzzy plugin. gest a diagnosis of patient conditions. Some features are of string
4. We populated the resulting ontology with instances from a data types such as sex and residence. Others are ordinal as vision,
fuzzy CB database. The ontology contains 63 (fuzzy) classes, thirst, and fatigue. The most of the features are numerical that will
54 (fuzzy) object properties, 138 (fuzzy) datatype properties, be fuzzy attributes.
105 fuzzy datatypes, and 60 real cases.
5. We proposed a method for fuzzy semantic querying of the 3.2. Fuzzy EER model step
resulting fuzzy knowledge base. The resulting CB fuzzy ontol-
ogy can be used to build CDSS for diabetes diagnosis and can For modeling the fuzzy EER, we use the notations in Ref. [49].
be extended for disease treatment. Each crisp value is fuzzified into all of the attribute’s linguistic val-
ues. To support similarity calculation using similarity matrices, a
3. The proposed fuzzy ontology single fuzzy label is used to describe the feature’s crisp value. For
example, if BMI attribute represents a linguistic variable with fuzzy
Fuzzy set theory can be applied to the crisp ER model in three values {underweight, normal, overweight, and obese}, and these
levels [66]. EER model is an extension of ER model by adding some values are represented by some fuzzy functions, then BMI = 30 is
object-oriented notations, such as generalization/specialization modeled as lUnderweight ð27Þ ¼ 0, lNormal ð30Þ ¼ 0:52,
and aggregation. Many studies have proposed the definition of
lOv erweight ð30Þ ¼ 0:48, lObese ð30Þ ¼ 0, and BMI representative lin-
fuzzy EER model [64,47], and the conversion of the paper’s case
guistic label Normal, which has the highest membership value.
base crisp data model into a fuzzy EER model is based on this for-
The linguistic label facilitates the fuzzy query formulation. We
mulation. We do not use fuzzy extensions to OWL for fuzzification
use MATLAB to fuzzify all of the 70 numerical features with the
as used in [3]. Fuzzy aspects are modeled as annotations in regular
guidance of our domain experts and DM diagnosis clinical practice
OWL 2 language using fuzzy OWL 2 syntax [9], and for implemen-
guidelines (CPG), as shown in Fig. 2. In building the fuzzy EER
tation, we will use the fuzzy OWL 2 protégé’s plugin.4
model, a set of attributes is used to show the idea. We select attri-
The CBRDiabOnto construction process is based on mapping the
butes from all types of data used including fuzzy numerical (e.g.
diabetes CB EER model into a fuzzy ontology. As in Fig. 1, the first
2hPG, BMI, serum uric acid, Albumin, and total cholesterol), non-
step generates the case base crisp EER model. This step is detailed
fuzzy ordinal (e.g. vision, ketones), non-fuzzy semantic (e.g. kidney
in Section 3.1. The next step is to extend this model to the fuzzy
disease, liver disease), and non-fuzzy textual (e.g. residence).The
EER model. This step is discussed in Section 3.2. After that, the gen-
fuzzy EER model for the selected attributes is shown in Fig. 3. In
erated fuzzy EER model is mapped to an FO structure (TBOX) using
this figure, all fuzzy features are denoted using FUZZY keyword
a formal methodology. This step is shown in Section 3.3. Finally,
and star figure.
the generated ontology is populated with instances from a fuzzy
Primary keys are black stars with underline text. Fuzzy entities
database (ABOX), which is equivalent to the fuzzy EER model. This
are dashed-outline rectangles, fuzzy relationships are dashed-
step is detailed in Section 3.4.
outline diamonds, and l is the fuzzy membership degree. We pro-
pose to extend all attributes with fuzzy types to be modeled in sep-
3.1. Case base EER model step
arate entities because these attributes are compound and
multivalued. For example, Fuzzy Age attribute is modeled as
We select the DM diagnosis domain as our case study. Diabetes
F_Age entity, which has an attribute to store the membership value
mellitus (DM) encompasses a group of metabolic disorders charac-
of each fuzzy value, an attribute to store its crisp value, and an
terized by a chronic hyperglycaemic condition, resulting from
attribute to store its descriptive linguistic label, as shown in
defects in insulin secretion, insulin action, or both [7,13,28]. Each
Fig. 4, where Age feature is modeled as 3 fuzzy terms and 2 addi-
case has a description and solution.
tional attributes. This modeling decision eases the mapping of
Case structure ¼ fP; S ðPÞg; fuzzy EER model to its equivalent FO elements. As a result, the
fuzzy EER model in Fig. 3 is extended to Fig. 5, which is more
where P is the problem description including patient symptoms and detailed.
lab test results. This part is described by 64 features.
P ¼ fLiF;LiP; GlS; Age;BMI; Residence;Gender;Occupation;KiF; Lab;UrS;HaPg; 3.3. CBRDiabOnto implementation (TBOX) step

where LiF = liver function tests, LiP = lipid profile, GlS = global symp- The CB fuzzy EER model provides the ontology elements, such
toms, KiF = kidney function tests, Lab = lab tests, UrS = urination as concepts, properties, and axioms. However, to build a high-
symptoms, HaP = haematological profile. The solution S (P) is quality fuzzy ontology, which correctly describes a domain, a for-
described by five features; it is the DM diagnosis (DM, prediabetes, mal methodology must be followed [8]. Because FO is an extension
gestational DM, and prediabetes gestational) and the likelihood of to crisp ontology, we follow the proposed ontology engineering
suffering from other complications related to liver and kidney. methodology by El-Sappagh et al. [22]. However, for space restric-
SðPÞ ¼ fD; L; N; C; Hg tions, its steps are not detailed here. According to proposed case
base EER model in Fig. 5, the translation of this model into an
where D = DM diagnosis, L = liver problem, N = nephropathy prob- OWL 2 FO is accurate. There are many research studies of rules
lem, C = cancer type, and H = hypercholesterolemia problem. The for EER-to-fuzzy ontology transformation, and some of the complete
full description of the data set can be found in Ref. [26]. We have rule sets have been proposed in Refs. [64,46]. Table 1 provides a
proposed a standard CB data model based on HL7 RIM and SCT small list of their correspondences.
ontology in another work. A customized version of the standard The creation of fuzzy OWL ontology includes two steps. First,
the creation of ontology structure (TBOX), which is discussed in
4
http://nmis.isti.cnr.it/~straccia/software/FuzzyOWL/index.html. this section. Second, the creation of ontology instances (ABOX),
1028 S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

Fig. 1. The fuzzy ontology construction framework.

Fig. 2. The numerical attributes fuzzification.

Fig. 3. The case base fuzzy EER model.

Fig. 4. An example of fuzzy datatype.

which will be discussed in the next section. The whole ontology implementing the resulting fuzzy CB OWL 2 ontology. All of the fol-
has been created in Protégé 4.3 and its Fuzzy OWL plugin5 for lowing coding based on the syntax of Bobillo and Straccia [9].
For each fuzzy value, such as young_age, we define a fuzzy data
type in protégé. Fuzzy OWL plugin has four fuzzy datatypes (e.g.
5
http://nmis.isti.cnr.it/~straccia/software/FuzzyOWL/index.html.
S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040 1029

Fig. 5. The extended case base fuzzy EER model.

Table 1
The correspondences between structures of fuzzy EER models and fuzzy OWL ontologies.

EER Model element Fuzzy OWL ontology element EER Model element Fuzzy OWL ontology element
Crisp entity Crisp class identifier Attribute Data property identifier
Fuzzy Entity Fuzzy class identifier Fuzzy attribute Fuzzy data property identifier
Relationship Class identifier Role Object property identifier
Cardinality The (minimum and maximum) cardinality axioms Instance of a fuzzy entity Individual identifier
Aggregation of m entities m pairs of fuzzy object property identifies Categorization Union of
...

Left (k1, k2, a, b), Right (k1, k2, a, b), Trapezoidal (k1, k2, a, b, c, d), and 3.3.1. Fuzzy data types and fuzzy data properties
Triangular (k1, k2, a, b, c)) [26]. According to the fuzzification in Three types of things are defined for each of the numerical fea-
Fig. 2, we select from these fuzzy data types. The plugin allows tures. First, an abstract role for the numerical feature as a whole.
the definition of fuzzy modifiers for classes, relationships and fuzzy Second, a fuzzy data type for each linguistic term. Third, a fuzzy
datatypes (i.e., mod(C), mod(R), and mod(d), where C is a concept, R concrete role (i.e., object property) for each linguistic term. Consid-
is a relation, and d is a fuzzy datatype) [26]. Moreover, fuzzy rela- ering HbA1c lab test values, let’s its range to be [0.0, 8.0] and its
tionships and fuzzy axioms are implemented. All the ontology ele- linguistic terms are lowA1c (LS (5.7, 6.05), normalA1c (Tri (5.7,
ments are extracted from its equivalent EER fuzzy model. A small 6.05, 6.4)), and highA1c (RS (6.05, 6.4)). First, we create an abstract
sample of the implementation of each identified element is done role named HbA1c. Second, a fuzzy data type has been created for
as follows. each of these fuzzy terms. As shown in Fig. 6, a protégé plugin

Fig. 6. An example of fuzzy data type definition.


1030 S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

has been utilized to create the datatype lowA1c and then annotated modified roles. For example, the has-Disease role can be modified
it as a fuzzy datatype. This process is repeated for all linguistic by very modifier in a new role very-has-Disease as:
terms in each fuzzy variable in our CB fuzzy ontology. Third, a fuzzy
concrete role has been defined for all of its linguistic values. Previ- <fuzzyOwl2 fuzzyType=‘‘role”>
ously defined fuzzy datatypes are used as the ranges for these roles. <Role type=‘‘modified” modifier=‘‘very”
Continuing with HbA1c, we defined three fuzzy concrete roles base=‘‘has-Disease”/>
hasLowA1c, hasNormalA1c, and hasHighA1c. For example, the hasLo- </fuzzyOwl2>
wA1c has been modeled as hasLowA1c (HbA1c, lowA1c) where
HbA1c is a crisp concept and lowA1c is a fuzzy data type.
3.3.4. CBRDiabOnto fuzzy logic
We select Zadeh fuzzy logic for CBRDiabOnto. This is imple-
3.3.2. Fuzzy modifiers, fuzzy modified data types, and fuzzy modified mented as ontology level annotation:
roles
Modifiers improve the ontology expressiveness and its semantic <fuzzyOwl2 fuzzyType=‘‘ontology”>
queries. Fuzzy modifiers change degrees of membership of fuzzy <FuzzyLogic logic=‘‘zadeh”/>
data types. A fuzzy modifier is a function f mod : ½0; 1 ! ½0; 1, which </fuzzyOwl2>
can be L (c), Tri (a, b, c) [26]. Fuzzy modifiers allow us to define an
axiom like 9Has Age:ðv eryÞyoung, and if we have an object property Fig. 7 shows a snapshot of the created OWL 2 fuzzy CB ontology
Has_Disease (Patient, Disease), we can define very (Has_Disease) or based on CBROnto standard CB ontology of JCOLIBRI 2 CBR frame-
recently (Has_Disease). Domain expert helped to define modifies work [56]. The same approach has been followed by Heras et al.
values as very, slightly, somewhat, etc. In our work, these modifiers [37] for creating a crisp CB ontology. The CBROnto ontology works
can modify the following (according to fuzzy ontology syntax of as the top-level organizing elements. This format facilitates the
Bobillo and Straccia [9]: usage of JCOLIBRI 2 API, a complete CBR API, for case retrieval,
adaptation, revision, and retention. CBROnto provides the top-
1. data type: for instance, the data type veryLowA1c is a modified level abstraction of several disjoint concepts of CBR. These con-
version of lowA1c: cepts include the primitive concept CBRCASE, which represents
<fuzzyOwl2 fuzzyType=‘‘datatype”> the list of cases instances in the knowledge base, CBR_INDEX, which
<Datatype type=‘‘modified” modifier=‘‘very” represent the list of case feature concepts, and CASE_COMPONENT,
base=‘‘lowA1c”/> which subsumes the most abstract components of a case including
</fuzzyOwl2> the disjoint concepts CBR_DESCRIPTION and CBR_SOLUTION. More-
2. fuzzy concrete role as shown next. over, CBROnto provides a set of relationships to link the previously
mentioned concepts, such as Has_Description and Has_Solution. The
3.3.3. Fuzzy modified data type properties following is a very short list of the ontology axioms, where d are
Two fuzzy data properties have been defined: has-Disease (to user defined fuzzy data types for linguistic terms for every fuzzy
define the severity of a disease) and lived-In (to model the length variable (cf. in El-Sappagh et al. [26], and the instance is the Con-
of stay for a person in rural or urban). They are modeled as fuzzy ceptID of an SCT concept:
S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040 1031

Fig. 7. The proposed case-base fuzzy OWL 2 ontology.

The resulting ontology contains 62 classes, 58 (fuzzy) object in rural or urban. Modeling of aggregation combines each case with
properties, 138 fuzzy datatype properties, 105 fuzzy datatypes, its components. We have created an object property Has_Part, and
1316 axioms, 761 logical axioms, and 2640 concept instances for its inverse Belongs_To, which link all parts of a case to the case
the 60 patient cases. Each object property and datatype property description concept DiabetesDiagnosisCase, as shown in Fig. 8. We
have an instance for every individual case. Moreover, the fuzzy have created some axioms to assure that each case has one concept
roles are not supported in Fuzzy OWL plugin. As a result, we cannot from each component, as shown in Fig. 9.
implement the fuzzy object properties Has_Disease, which repre- Rules can be added to the resulting ontology using SWRL to
sents the level of criticality of a disease or its number of years, enforce and infer some logics, such as the relation between con-
and Lived_in, which describes the length of time a patient has lived cepts like Patient_Case (?x) ^ Has_Gender(?x, ‘‘Male”) ! : Has_Diag-
1032 S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

Fig. 8. The aggregation modeling in OWL 2.

Fig. 9. Case axioms for collecting one instance from each component.

noses (?x, ‘‘Gestational_Diabetic”). These rules can help to infer Table 2


missing features’ values of the new query problem and implement Transformation from instances of fuzzy EER models to fuzzy OWL ontologies.
DM diagnosis clinical practice rules. EER instance Fuzzy OWL ontology instance
The next step is to populate the resulting ontology structure
Fuzzy object instance Fuzzy individual identifier
with instances from the EER’s database. In other words, we map Attribute value Data property assertion
data object instances to fuzzy OWL ontology individuals. This step Relationship Object property assertion
will be discussed next. ...
S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040 1033

Fig. 10. A fragment of the instances information in the case-base fuzzy EER model in Fig. 5.

Fig. 11. The mapping between elements of fuzzy data and fuzzy ontology.

3.4. CBRDiabOnto instantiation (ABOX) step functional-style syntax.6 Fig. 13 shows the instantiation of the CB
fuzzy EER instances fragment modeled in Fig. 10, where a case is rep-
There are many options for ontology population. The ontology resented as a set of ontology individuals and relations (i.e., proper-
instances can be stored in a database, and ontology-based data ties). Some reasoners, such as Pellet, support rule reasoning, and
access algorithm is used to semantically access the instances data- inference. As a result, we may implement some rules to assert some
Pn
i¼1 li ¼ 1 for
base [32]. This option supports the scaling of an ontology because axioms, such as for each fuzzy attribute value:
there is no limit to the number of instances stored in a database, n = number of fuzzy values and li = a membership value. Although
but its reasoning power will suffer [33]. The other option is to store there exist protégé plugins for FO population, such as FEER2FOnto
both of the ontology structure and instances in the same structure, [19], they are not fully compatible with our work. As a result, we
and this is our choice in this paper. We have created a fuzzy data- can use an API for ontology programming, such as OWL API 3, Jena,
base for the proposed fuzzy EER model and filled it with 60 cases of protégé API, or Pellet API. We select OWL API 37 to implement our FO
diabetic patients. These data have been collected from the EHR of population algorithm.
60 patients in Mansura University Hospitals, Mansura, Egypt. This Our resulting ontology combines many datatypes and many
data are used to populate CBRDiabOnto. A set of transformation reasoning (i.e., fuzzy, CBR, and ontology reasoning). As a result, it
rules from fuzzy database instances to FO instances is shown in supports many fuzzy semantic retrieval and query algorithms
Table 2. [51]. Firstly, fuzzy labels are used to extend query case description
To illustrate the transformation process, we give an instantia- and to determine the fuzzy similarity between vague terms in
tion of the fuzzy EER model in Fig. 5 with data shown in Fig. 10, query evaluation. A domain expert assigns the semantic similarity
where each value of numerical features has been fuzzified accord- between fuzzy labels, and similarity matrices are used to measure
ing to the selected membership function. Symbols of fuzzy EER it. Secondly, the list of fuzzy membership values assigned to every
model are transformed to identifiers of fuzzy OWL ontology. All linguistic value enhances the fuzzy similarity algorithms accuracy.
instances for CBROnto ontology are omitted from the discussion Thirdly, the existence of the original crisp value allows the combi-
to simplify the process. The fuzzy values of attributes in Fig. 3 have nation of fuzzy and crisp similarity measures. Fourthly, fuzzy
been modeled in separate entities as shown in Fig. 5, and they are hedges can be defined, which enrich the query description and
filled with data in the EER’s corresponding database model as similarity calculation. Finally, the existence of semantic values,
shown in Fig. 11. The EHR database (Fig. 11a) is converted to the such as patient diseases, which are connected to other ontologies,
fuzzy database (Fig. 11b), and the resulting data are used to popu- enhance the semantic retrieval of similar cases. Moreover, the
late the ontology (Fig. 11c). Moreover, FO has been built to support
the same structure in Fig. 5.
Fig. 12 shows the resulting ontology structure of the CB fuzzy 6
https://www.w3.org/TR/owl2-syntax/.
EER structure fragment in Fig. 5. The syntax used is OWL 2 7
http://owlapi.sourceforge.net/.
1034 S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

Fig. 12. A part of the fuzzy OWL ontology structure for Fig. 5.

Fig. 13. A part of the fuzzy OWL ontology instance for Fig. 10.

resulting ontology allows dealing with abstract and incomplete (i.e., case retrieval) based on querying the resulting ontology.
problem descriptions [53]. Storage preservation is achieved since Fig. 14 proposes a framework for a fuzzy semantic query of the
many cases can refer to the same feature description objects. For CB fuzzy ontology. The problem is formatted as a query-case with-
example, if we have n cases C1,. . ., Cn, which have Age = 45, then out a solution as suggested in Fig. 15 where physicians are able to
we create one Age object and make all of the n cases point to that use GUI to enter the patient characteristics. The query case is a vec-
Age object. Cases can have relationships with other cases such as tor V = <attributei = valuei>, for i is the number of features, i.e.,
Ci v Cj. <Age = 20, BMI = 40, Residence = ‘‘Rural”, Fatigue = ‘‘++”, Gen-
der = ‘‘Male”. . .>. There is no semantic at this level. This vector will
4. Querying the CB fuzzy ontology be passed to the Query Parser (Fig. 14); his module has two func-
tions namely fuzzification and encoding based on SCT [27]. Numer-
The main purpose of the ontology is to use it as a knowledge ical features in the vector are fuzzified using the same membership
base in a CDSS. This section discusses the main step in CBR system functions that are used to fuzzify all cases in the knowledge base
S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040 1035

Fig. 14. The fuzzy semantic query formulation and execution engine.

Fig. 15. A fuzzy query entry form.

(see Fig. 2). The structure of resulting data is shown in Fig. 11b. There are many options for querying the CB fuzzy ontology. The
Semantic features in the resulting fuzzy vector will be encoded using query and the OWL ontology may be serialized into RDF form, and
the domain background-knowledge ontology to support semantic SPARQL8 language is used to form SQL-like query over the ontology
retrieval [36]. The other features remain the same. [42]. However, SPARQL has an incomplete understanding of OWL
We utilize our previously proposed SCT OWL 2 ontology as the semantics because it mixes the syntax of the language with its asser-
background knowledge for measuring semantic similarity between tions [50]. Moreover, there is no canonical RDF serialization of some
medical concepts [23]. According to CBRDiabOnto vocabulary, OWL constructs, and different tools can serialize the same OWL con-
Ontological Query Transformer transform the query case vector into structs in slightly different ways.9 The f-SPARQL extends the capabil-
a semantic query containing OWL 2 individuals and property ities of SPARQL. However, it has no standard and requires an
instances, as shown in Fig. 11c. Fig. 16 shows an example using extension for OWL 2 [16]. Rules reasoning and querying can be
OWL 2 Functional-Style Syntax for the previous query vector V. achieved using SWRL and Semantic Query-enhanced Web Rule Lan-
the case retrieval is achieved by the Case Retrieval Module based
on ontology reasoners and SCT.
8
http://www.w3.org/TR/sparql11-query/.
9
http://www.w3.org/TR/owl2-mapping-to-rdf/.
1036 S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

Fig. 16. A portion of the representation of a query case.

Fig. 17. A part of a semantic query over the case base for Fig. 16.

guage (SQWRL) respectively [50]. SQWRL has built in libraries for of exact matching found, the querying returns the diagnosis of
mathematical and logical calculations, which facilitates the imple- matched case.
mentation of the retrieval algorithm. Moreover, SQWRL free APIs In the case of no exact match found, the whole cases are
facilitates the implementation of JAVA applications for case retrieval returned to compute their similarities with the query case;
over ontology.10 because semantic query engines do not support loops and complex
The SPARQL-DL language can directly query the OWL 2 ontol- mathematical computations. This process is handled in the JAVA
ogy, and this is the optimum choice because it fully utilizes the code. The similarity between query case and retrieved cases is cal-
OWL 2 semantic capabilities [58]. It is a subset of SPARQL, which culated using the k-NN algorithm, which combines local similarity
corresponds to conjunctive queries in DLs, and it uses SPARQL syn- function according to feature type (i.e., fuzzy, semantic, ordinal,
tax. The SPARQL-DL query engine is settled on top of the OWL API or text), and global similarity function, such as weighted Euclidean
3. We use a combination of SPARQL-DL JAVA APIs11 and SQWRL distance function. For space restriction, we will propose a novel
JAVA APIs to build our fuzzy semantic query execution engine, as fuzzy semantic similarity measure in a future work, which is suit-
shown in Fig. 14. The Has_Part, and Belongs_To object properties, able to our proposed ontology. Our CB ontology includes a datatype
which implemented aggregation and Has_ID data property, are used property named Has_Weight to assign a weight to each feature. El-
to ensure that all selected concepts are linked to one case. We have Sappagh et al. [24] proposed the optimum weight vector in another
used JAVA and OWL API 3 to implement the Case Retrieval Module in work. The solution of the most similar case is retrieved and used
Fig. 14. directly or entered into the rest of CBR cycle including case adap-
The formulated semantic query is passed to the Pellet rea- tation, revision, and retention.
soner,12 which supports SPARQL-DL, for the crisp part of the ontol- Following a CBR methodology, the proposed ontology allows
ogy. The query is passed to fuzzyDL reasoner for fuzzy reasoning. the CBR system to store the domain cases as concepts in the fuzzy
Reasoners allow inference of implicit knowledge over explicit one. CB ontology, and semantically and imprecisely retrieve the most
The format of the query is in SPARQL-DL and using SWRL built-ins, similar cases. In DM diagnosis, patients always describe their prob-
which return cases from the fuzzy CB ontology. In its simplest form, lems by vague terms. Physicians depend on their experience,
Fig. 17 shows a fragment of a conjunctive query for the semantic which is vague in most cases. The patient may have some lab test
search by suing SPARQL-DL syntax. This query finds a case with an numerical results. Some feature values are concept-IDs from SCT
exact match from CB ontology for the query case in Fig. 16. In the case ontology, and some features are text. Therefore, ontology must
support all these types of data. Our proposed ontology structure
is the richest ontology structure, which maximizes the flexibility
10
http://protege.cim3.net/cgi-bin/wiki.pl?SQWRLQueryAPI. in describing patient problem by a domain expert. In Fig. 15, the
11
http://www.derivo.de/en/resources/sparql-dl-api.html. physician can enter numerical features as numbers or as linguistic
12
http://clarkparsia.com/pellet/. labels. Ordinal features are selected from List Boxes. For example,
S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040 1037

Fig. 18. A part of a fuzzy semantic query.

the list box of urination frequency feature has the values (Nor- some of the most common pitfalls occurring in the development of
mal = 3–5 times urination per day, + = 6–8 times urination per ontologies. We run OOPS! on the CBRDiabOnto ontology and ensure
day, ++ = 9–10 times urination per day, and +++ = More than 10 that the ontology is free of such pitfalls.
times urination per day). Semantic features are selected from our
SCT ontology, and semantic similarity is calculated [36]. In the case 5.2. Comparison against a gold standard
retrieval, linguistic labels are compared to similarity matrices pro-
posed by our domain expert. Numerical values are fuzzified, and There is no gold standard ontology to measure its similarity
the similarity is calculated using a fuzzy similarity algorithm. The with our ontology. Moreover, if a gold standard exists, then there
text features similarity is computed using exact matching. The ordi- will be no need to create other ontologies. Ontology Design Pat-
nal features similarity is calculated using similarity matrices pro- terns (ODPs) can be considered as a gold standard. However, ontol-
posed by our domain expert. ogy can follow ODPs but does not satisfy the needed functionality.
The crisp numerical features similarity can be calculated using a
distance function (i.e. Euclidean distance). If the query case is rep- 5.3. User-based or criteria-based evaluation
resented in linguistic terms, our ontology supports the direct fuzzy
retrieval of cases. For an exact match, an easy to formed query can A comparison with existing ontologies in the same domain is
be generated; Fig. 18 shows a part of the exact matching linguistic needed; however, there is no (fuzzy) CB ontology in the medical
query, which contains <. . . Age=Young, BMI=OverWeight. . .>, where domain to compare with. Alexopoulos et al. [3] proposed a fuzzy
no numerical calculations are required; it is a variation of the query CB ontology for electricity market CBR system. On the other hand,
represented in Fig. 17 where features are searched using only there Heras et al. [37] proposed a crisp CB ontology for argumentation,
fuzzy terms. The proposed fuzzy CB ontology structure, the popu- Guo et al. [35] for mould design, and Zhukova et al. [65] for
lated knowledge base, and the semantic querying capability will be resource management. Several quantification criteria for ontology
used to build knowledge intensive fuzzy-CBR system for DM diag-
nosis. We will use the most popular CBR framework (i.e., JCOLIBRI Table 3
2), which provides OntoBridge JAVA APIs13 to access ontologies in The ontology evaluation quality metrics.
JAVA. We will alter this APIs to work with fuzzy ontologies and fuzzy
Measure Ontology
reasoners. These aspects will be considered in future works.
Criteria Metrics The ArgCBROnto
proposed
5. Evaluation ontology
Complexity An average number of paths 5 3
In this section, we evaluate the resulting fuzzy CB ontology to reach a class from the
regarding its syntax, semantics, and content coverage. The evalua- root.
Average number of 1.4 1.3
tion process assesses the ontologies concerning a set of desirable
semantic relations (object
qualities or ontology requirements including conciseness, correct- properties) per class.
ness, intelligibility, and adaptability. The creation of an accepted Abstraction The average depth of the 2 2
ontology is an evolutionary problem, i.e., the ontology must be ontology.
used, criticized, and updated by researchers over a long time. There Cohesion An average number of 63 27
connected components
are no globally accepted evaluation mechanisms [8]. According to (classes).
Brewster et al. [11], precision and recall are not suitable for the Conceptualization Semantic Richness: Ratio of 58/(58 38/(38
evaluation because they depend on a comparison between evalu- the total number of + 59) + 23) = 0.62
ated ontology and a standard one. Most of the time, there are no semantic relations assigned = 0.495
to classes, divided by the
standard ontologies. Different evaluation methodologies are
total number of ontology
needed. Quality evaluation methods of ontologies are classified relations (object properties
as in Ref. [64]. We follow this method for evaluation. and subsumption relations).
Attribute Richness: Ratio of 138/ 24/
the total number of 62 = 2.26 26 = 0.92
5.1. Consistency checking
attributes (data properties
describing ontology
This ontology is serialized in the OWL 2 format with the protégé classes), divided by the total
4.3 tool. It contains 63 (fuzzy) classes, 54 (fuzzy) object properties, number of ontology classes.
Inheritance Richness: 5.0 2.875
138 (fuzzy) datatype properties, 105 fuzzy datatypes, and 60 real
Average number of sub-
cases. Consistency checking describes the syntactic-level evalua- classes per class.
tion. The Pellet, fuzzyDL 1.1, HermiT 1.3.6, and FaCT++ reasoners Completeness For Precision and Recall, Not Not
have been used with the Protégé editor to confirm that CBRDia- there are no standard Applicable Applicable
bOnto is consistent and free of errors. They do not reveal any dis- (fuzzy) case base ontologies
to compare our ontology
crepancies regarding this version of the ontology. Moreover, the
with it.
Ontology Pitfall Scanner! (OOPS!)14 online tool can help to detect Comprehension Documentation of the 2.04% 0.0%
properties
13 Documentation of the 88.71% 0.0%
http://gaia.fdi.ucm.es/research/colibri/jcolibri.
14 classes
http://oops.linkeddata.es/.
1038 S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040

Fig. 19. A snapshot of our ontology evaluation execution.

X
quality have been proposed [21,34,62]. We depend on the criteria D¼ wf  dðf Þ ð2Þ
of Djedidi and Aufaure [21], where each criterion can be measured f
by metrics. These criteria include complexity, cohesion, conceptu-
where wf is the weight assigned to a concept according to its repe-
alization, abstraction, completeness, and comprehension [21].
tition, and D defines how possible to map a set of user needs to
From the literature, ArgCBROnto is a complete ontology, and the
queries expressed in an ontology. Our ontology has ontology fit
other papers have not proposed ontologies. Table 3 represents a
D ¼ 100, and the ontology adheres to the most critical desiderata
comparison between ArgCBROnto and our ontology regarding
characteristic of Cimino [17] (i.e., content coverage). Fernández
these metrics. For calculating metrics, we depended on the equa-
et al. [29] suggested another data driven evaluation measure. This
tions of Zhang et al. [64]. The ontology parameters of the metrics
measure included the number of classes, properties, axioms, and
are calculated using the protégé 4.3 evaluation plugin (i.e., Ontol-
individuals. Protégé ontology evaluation plugin calculates these
ogy Evaluation.15) Fig. 19 is a snapshot of the evaluation process
metrics and others including naming conventions, class hierarchy,
of the proposed ontology.
object properties hierarchy, data type properties hierarchy, disjoint-
ness restrictions, see Fig. 19. The application of this measure on our
5.4. Lexical, vocabulary, or data level evaluation
ontology is summarized in Table 4, where CBRDiabOnto over-
weights the other ontologies. Moreover, our ontology structure is
Coverage is the completeness of terms or concepts to represent
formally derived from a fuzzy EER model of the case base, which
a domain [62]. This step can be achieved by assuring that the
makes it more accurate.
ontology contains concepts and relations equal to those in the
Finally, the domain experts have evaluated the proposed ontol-
domain, and ontology instances equal to instances in the domain
ogy content regarding the clarity and conciseness.
[11]. Our ontology has been populated with 60 cases, and the
new case can be added. As our ontology has been derived from
– Clarity: Gruber [34] stated three requirements for clarity includ-
the DM diagnosis EER model, all medical terms used in this model
ing formal definition of classes, ontology documentation, and
exist in the proposed ontology. Moreover, the domain experts col-
the using of classes according to the requirements. Since all
lect 328 medical terms from existing DM diagnosis CPGs including
terms are extracted from the EHR databases and CPGs, formal
Canadian Diabetes Guideline16 and others. The expert tests the cov-
definitions are available for all of the terms. CBRDiabOnto is
erage of CBRDiabOnto for all of these terms. The CBRDiabOnto has
documented using a natural language. In addition, the domain
100% concept coverage for all medical classes and relations required
experts define the meaning of all terms.
to describe diabetic patient cases. All needed concepts and relations
– Conciseness: the ontology should not include unnecessary con-
to describe diabetics have been verified. Some terms exist as features
cepts or redundancies. This aspect has been carefully handled
in the EER model as ‘‘HbA1c” term, and others are values, which have
during the ontology development and validation.
been populated in the 60 cases, such as ‘‘pre-diabetic” term. In addi-
tion, the CBR concepts and relations required to define the case base
5.5. Vagueness evaluation
and individual cases have been verified according to the existing CBR
API standard (i.e., JCOLIBRI 2). We used the ontology fit measure pro-
Alexopoulos and Mylonas [2] proposed a set of metrics to eval-
posed by Raimond and Sandler [55]. For a query feature f, they
uate the quality of ontology vagueness. These metrics include:
defined d as in Eq. (1):

1 f is expressible in the ontology – Vagueness Spread (VS): In a fuzzy ontology, the concepts, rela-
dðf Þ ¼ ð1Þ tions, attributes, and data types elements may be of a vague
0 Otherwise
type. VS measures the extent of vagueness representation in
moreover, the whole ontology concept coverage is calculated using the ontology, and it provides an indicator of the ontology’s
Eq. (2): potential comprehensibility and shareability, i.e., high vague-
ness spread equal less explicitness and shareability. VS is the
15
http://protegewiki.stanford.edu/wiki/Ontology_Evaluation. ratio of the number of vague ontology elements (classes,
16
http://guidelines.diabetes.ca/. relations, and data types) (VOE), divided by the total number
S. El-Sappagh, M. Elmogy / Engineering Science and Technology, an International Journal 20 (2017) 1025–1040 1039

Table 4
The ontology evaluation measures for three ontologies.

The measure Knowledge coverage measures


No. of No. of No. of Max No. of Documentation of Documentation of Properties with Properties Number of
classes properties axioms Parents the classes the properties domain with range individuals
The Proposed 62 196 1316 31 88.71% 2.04% 98.47% 98.98% 2640
ontology
ArgCBROnto 26 62 446 13 0% 0% 85.48% 77.41% 0
Alexopoulos 10 18 N/A N/A N/A N/A N/A N/A N/A
et al.

of elements (OE), as in Eq. (3). We have C (Classes) = 62, OP will populate the ontology with more cases to enhance the case
(Object properties) = 58, FD (Fuzzy Datatypes) = 105, FDP = retrieval accuracy. We will study semantic retrieval algorithms,
(Fuzzy Datatype Properties) =138, and FOP (Fuzzy Object Prop- and we will study how to improve it. We will study the possibili-
erties) = 2. ties for improving the performance of the proposed case base
ontology such as storing the fuzzy CB ontology in a fuzzy relational
jVOEj FD þ FDP þ FOP
VS ¼ ¼ database and use fuzzy SQL to implement case retrieval.
jOEj C þ OP þ FD þ FDP
105 þ 138 þ 2 Acknowledgments
¼ ¼ 0:675 ð3Þ
62 þ 58 þ 105 þ 138
– Vagueness Explicitness (VE): It is the ratio of the number of The authors would like to thank Professor Farid Badria, Prof. of
vague ontological elements that are explicitly identified Pharmacognosy, Department and Head of Liver Research Lab,
(EVOE), divided by (VOE), as in Eq. (4). The higher the value Mansoura University, Egypt and Professor Hosam Zaghloul, Prof.
of this metric is the better is the ontology. All fuzzy elements at Clinical Pathology Department, Faculty of Medicine, Mansoura
defined in the proposed ontology are explicitly defined, and University, Egypt for their efforts in this work.
fuzzy reasoner (fuzzyDL) can infer other implicit elements at
run time. References

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