Abstract
The paper considers medical knowledge extraction for the diagnosis of rare hereditary diseases. The specific feature of the proposed approach is the combination of expert estimates of the symptom presence probability with three complementary factors of confidence: time of manifestation, severity and frequency of symptom manifestation in different age ranges. Preliminary textological cards used by experts and cognitive scientists are formed based on the linguistic analysis of related literature.
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References
Schieppati, A., Henter, J.I., Daiana, E., Aperia, A.: Why rare diseases are an important medical and social issue. Lancet 371(9629), 2039–2041 (2008)
Online Mendelian Inheritance in Man® An Online Catalog of Human Genes and Genetic Disorders. https://www.omim.org/. Accessed 30 Mar 2018
Ayme, S., Caraboenf, M., Gouvernet, J.: GENDIAG: a computer assisted syndrome identification system. Clin. Genet. 28(5), 410–411 (1985)
Pitt, D.B., Bankier, A., Haan, E.A.: A visual verbal computer assisted syndrome identification system. Aust. Paediat. J. 21(4), 306–307 (1985)
POSSUM web 2018. Pictures of Standard Syndromes and Undiagnosed Malformations. https://www.possum.net.au/. Accessed 15 Apr 2018
Kobrinsky, B., Kazantseva, L., Feldman, A., Veltishchev, J.: Computer diagnosis of hereditary childhood diseases. Med. Audit News 4(1), 52–53 (1991)
Guest, S.S., Evans, C.D., Winter, R.M.: The online London dysmorphology database. Genet. Med. 5(1), 207–212 (1999)
Baraitser, M., Winter, R.M.: London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM, 3rd edn. Oxford University Press, Oxford (2001)
Ayme, S.: Orphanet, an information site on rare diseases. Soins 672, 46–47 (2003)
La Marca, G.: Lysosomals. In: Blau, N., Duran, M., Gibson, K.M., Vici, C.D. (eds.) Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, pp. 785–793. Springer, Heidelberg. (2014). https://doi.org/10.1007/978-3-642-40337-8_52
Kobrinskii, B.A.: Approaches to the construction of cognitive linguistic–image models of knowledge representation for medical intelligent systems. Sci. Tech. Inf. Process. 43(5–6), 289–295 (2016)
Zadeh, L.A.: Toward a theory of fuzzy information granulation and its centrality in human reasoning and fuzzy logic. Fuzzy Sets Syst. 90(2), 111–127 (1997)
Zadeh, L.A.: Fuzzy sets as a basis for a theory of possibility. Fuzzy Sets Syst. 1(1), 3–28 (1978)
Quinlan, J.R.: C4.5: Programs for Machine Learning. Morgan Kaufmann Publishers Inc., San Mateo (1993)
Malik, D.S., Mordeson, J.N.: Fuzzy Discrete Structures. Physica-Verlag, New York (2000)
Petrovsky, A.B.: Multi-attribute classification of credit cardholders: multiset approach. Int. J. Manage. Decis. Mak. 7(2/3), 166–179 (2006)
Torres, A., Nieto, J.J.: Fuzzy logic in medicine and bioinformatics. J. Biomed. Biotechnol. 2006(2), 1–7 (2006)
Prasath, V., Lakshmi, N., Nathiya, M., Bharathan, N., Neetha, N.P.: A survey on the applications of fuzzy logic in medical diagnosis. Int. J. Sci. Eng. Res. 4(4), 1199–1203 (2013)
Popper, K.: Knowledge and the Body-Mind Problem: In Defence of Interaction. Routledge, Abingdon (2013)
Shortliffe, E.H., Buchanan, B.G.: A model of inexact reasoning in medicine. In: Buchanan, B.G., Shortliffe, E.H. (eds.) Rule-Based Expert Systems: The MYCIN Experiments of the Stanford Heuristic Programming Project, pp. 233–262. Addison-Wesley Publishing Company, London (1984)
Gavrilova, T., Leshcheva, I.: The interplay of knowledge engineering and cognitive psychology: learning ontologies creating. Int. J. Knowl. Learn. 10(2), 182–197 (2015)
Kobrinskii, B.: Expert reflection in the process of diagnosis of diseases at the extraction of knowledge. In: Proceedings of the IV International research conference “Information technologies in Science, Management, Social sphere and Medicine” (ITSMSSM 2017), vol. 72, pp. 321–323. Atlantis Press, Paris (2017)
Rat, A., Olry, A., Dhombres, F., Brandt, M.M., Urbero, B., Ayme, S.: Representation of rare diseases in health information systems: the orphanet approach to serve a wide range of end users. Hum. Mutat.: Var. Inf. Dis. Special Issue: Deep Phenotyp. Precis. Med. 33(5), 803–808 (2012)
Hammond, P., et al.: 3D analysis of facial morphology. Am. J. Med. Genet. 126A(4), 339–348 (2004)
Hammond, P., et al.: Discriminating power of localized three-dimensional facial morphology. Am. J. Hum. Genet. 77(6), 999–1010 (2005)
Vardell, E., Bou-Crick, C.: VisualDx: a visual diagnostic decision support tool. Med. Ref. Serv. Q. 31(4), 414–424 (2012)
Kuru, K., Niranjan, M., Tunca, Y., Osvank, E., Azim, T.: Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics. Artif. Intell. Med. 62(2), 105–118 (2014)
Ferry, Q., et al.: Diagnostically relevant facial gestalt information from ordinary photos. eLife 3, e02020 (2014). https://doi.org/10.7554/eLife.02020
Robinson, P.N., Köhler, S., Bauer, S., Seelow, D., Horn, D., Mundlos, S.: The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83, 610–615 (2008)
Köhler, S., et al.: Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am. J. Hum. Genet. 4(85), 457–464 (2009)
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Kobrinskii, B.A., Demikova, N.S., Blagosklonov, N.A. (2018). Knowledge Engineering in Construction of Expert Systems on Hereditary Diseases. In: Kuznetsov, S., Osipov, G., Stefanuk, V. (eds) Artificial Intelligence. RCAI 2018. Communications in Computer and Information Science, vol 934. Springer, Cham. https://doi.org/10.1007/978-3-030-00617-4_4
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