COMMUNICATION AMONG MEDICAL INFORMATION SYSTEMS principles for elaborating definitions

Souza, Amanda Damasceno de; Almeida, Maurício Barcellos

doi:10.20396/rdbci.v18i0.8657089/22700

Amanda Damasceno de Souza

Federal University of Minas Gerais, Belo Horizonte, MG, Brazil / e-mail: amanda@ufmg.br

https://orcid.org/0000-0001-6859-4333

Maurício Barcellos Almeida

Federal University of Minas Gerais, Belo Horizonte, MG, Brazil / e-mail: mba@eci.ufmg.br

https://orcid.org/0000-0002-6153-1011

Content	Logic	Writing and style	Coverage
Insufficient information, very informative or very complex, outdated or obsolete, lack of standard	Imprecise or vague, circular, contradictory.	Poorly worded, inconsistent style.	Several similar definitions, absence of definition.

Content	Logic	Coverage
GO:0050566 term: asparagine-tRNA synthase (glutamine-hydrolyzing) activity. definition: Catalysis Cyc:6.3.5.6-RXN	GO:0042270 term: Protection from natural killer cell mediated cytolysis definition: The process of protecting a cell from cytolysis by natural killer cells	NCI Thesaurus term: Acute Myeloid Leukemia. definition: A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification). Other definitions: An aggressive (fast-growing) disease in which too many myeloblasts (immature white blood cells that are not lymphoblasts) are found in the bone marrow and blood. A rapidly progressive cancer of the blood and bone marrow consisting of the proliferation of abnormal myeloblasts, which are immature, dysfunctional white blood cells.
GO:0001655 term: urogenital system development. definition: the development of the urogenital system	GO:0006190 term: inosine salvage. definition: Any process that generates inosine, hypoxanthine riboside, from derivatives of it without de novo synthesis.	NCI Thesaurus term: Chronic Myelogenous Leukemia. definition: A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell
		transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. Another definition: A slowly progressing disease in which too many white blood cells are made in the bone marrow.
NCI Thesaurus term: Tuberculosis definition: A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.	Term: Tuberculosis definition: A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis.	NCI Thesaurus term: Acute Leukemia. definition: A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). Another definition: A rapidly progressing cancer that starts in blood-forming tissue such as the bone marrow and causes large numbers of white blood cells to be produced and enter the blood stream.

1) To separate the term	List the term to be defined. In the medical field, there may be different terms or synonyms for an illness.
2) To obtain a preliminary definition	Use domain-specific sources of information: books, articles, dictionaries, encyclopedias, thesaurus, ontologies.
3) To stablish the superior genus in the context of the use of the term	The genus, the common characteristic to the terms of the hierarchy, defined by the ratio <is-a>, e.g. acute myeloid leukemia is-a hematopoietic neoplasm.
4) To stablish the essential characteristic by distinguishing the genus from the species	Use differentiate to define the unique and essential characteristic (or group) that distinguishes one term from another. This essential characteristic usually requires an expert.
5) To formulate the first version of the definition in the form	S = a G which Ds, where "G" (for: genus) is the parent term for "S"; "S" (for: species) where S is the leukemia class to be defined, G is the most general class and D is the differentiator that distinguishes the instance of S from the instance of D.
6) To check necessary and sufficient conditions	Use the expression: to be an A is a necessary condition to be a B, so each B is an A. Being an A is a sufficient condition to be a B, so each A is a B; this means that "A" represents the essential characteristic and "B" represents the defined term.
7) To check the principle of non-circularity	Check whether the definition has used the term(s) itself to define itself.
8) To check presence of multiple inheritance	Check for the presence of hierarchy nodes that have two parent nodes.

Stage	Example	Comment
1) To separate the term	Term: Acute Myeloid Leukemia	Leukemia term to be defined according to the BLO
2) To obtain a preliminary definition of the meaning of the term from expert sources	NCI Thesaurus (NCIt): a clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise categorized. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification).	The selected sources of information were: Disease Ontology, Ontobee, MeSH, Medscape, Book Foucar et al. (2012FOUCAR, Kathryn et al. Myeloid neoplasm. In: FOUCAR, Kathryn.; et al. Diagnostic pathology blood and bone marrow. Monitoba:Amirsys, 2012. cap.9. 2-208.), NCI-Dictionary of Cancer Terms, NCI-Thesaurus.
3) To establish the superior genus in the context of the use of the term	Acute myeloid leukemia is a hematopoietic neoplasm.	In the case of leukemias, the genus common to the terms is acute myeloid leukemia which has a characteristic abnormal shunt in the myeloid lineage. The <is-a> ratio was used to establish the genus.
4) To establish the essential characteristic by distinguishing the genus from the species	Derives from an uncontrolled and rapidly proliferation of the myeloid lineage and their precursors.	The fact of simply being of the myeloid lineage does not characterize the LMA, but the change in the myeloid lineage, because there is also the differentiation to the lymphoid lineage. In the case of LMA, the differentiation between leukemia was defined by the type of cell involved (differentiation from the myeloid lineage) and the percentage of immature cells (blasts).
5) To formulate the first version of the definition in form: S = Def. a G which Ds, where "G" (for: genus) is the parent term of "S"; "S" (for: species) where S is the class to be defined, G is the most general class and D is the differentia that characterizes the instance of S from the instance of D	An Acute myeloid leukemia is-a hematopoietic neoplasm that derives from an uncontrolled and rapidly proliferation of the myeloid lineage and their precursors.	Avoiding the use of unusual words, for example, in the definition of Myeloid neoplasms with abnormalities of PDGFRA PDGFRB or FGFR1, has been changed aberrantly by abnormal.
6) To check necessary and sufficient conditions	Being an LMA is sufficient condition to "derive from an uncontrolled and rapidly proliferation of a myeloid lineage and its precursors", that is, each LMA derives from an uncontrolled and rapidly proliferation of a myeloid lineage and its precursors.	Perform the single inheritance check to confirm that the characteristic defined in item 4 is necessary and sufficient for each type of leukemia and that there are other leukemias or other diseases with these same characteristics.
7) To check the principle of non-circularity	There seems to be no circularity, we keep the definition as in (5).	To correct the circularity of more complex terms, it is sometimes necessary to describe the meanings of the acronyms in full and to clarify the form of mutation: whether it was translocation, deletion or inversion. The most difficult term to avoid circularity was Acute myeloid leukemia with mutated CEBPA.
8) To check multiple inheritance	Unique inheritance: myeloid lineage.	Because it's a clonal disease, it could have myeloid or lymphoid lineage. Thus, myeloid inheritance was defined according to the classification criteria of FAB/WHO (2008). However, Silva et al. (2006SILVA, Graziele C. da et al. Diagnóstico laboratorial das leucemias mieloides agudas. Jornal Brasileiro de Patologia e Medicina Laboratorial, Rio de Janeiro, v. 42, n. 2, p. 77-84, abr. 2006 . Disponível em: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442006000200004&lng=en &nrm=iso. Acesso em: 26 ago. 2015. http://www.scielo.br/scielo.php?script=s... ) reports the existence of types of acute leukemia with both lineages (myeloid and lymphoid), being considered mixed, hybrid or biphenotypic leukemias.

[TFN6] Source: adapted from Seppala and Rutemberg (2013SEPPÄLÄ, Selja ; RUTTENBERG, Alan. Survey on Defining Practices in Ontologies : Report. in preparation of the International Workshop on Definitions in Ontologies (DO 2013). In: INTERNATIONAL CONFERENCE ON BIOMEDICAL ONTOLOGY (ICBO 2013), 4, JULY 2013, Montreal, Quebec, Canada, 2013. Disponível em: http://definitionsinontologies.weebly.com/uploads/1/7/6/9/17696103/do2013_surveyreport_se ppalaruttenberg.pdf. Acesso em: nov 2014.
http://definitionsinontologies.weebly.co... ).

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COMMUNICATION AMONG MEDICAL INFORMATION SYSTEMS principles for elaborating definitions

ABSTRACT