ICD-10 - ORPHA: An Interactive Complex Network Model for Brazilian Rare Diseases

Abstract

A disease is considered rare if it has a low prevalence. It is estimated that around 400 million people worldwide have a rare disease, including 15 million in Brazil. Consequently, it became a public health priority for the World Health Organization and the Brazilian Health Ministry. In 2014, the Brazilian government launched a national policy regarding the care for rare patients’, the Ordinance nº199. The national politic defines guidelines, procedures, and descriptions of rare disease codes to provide access and diagnosis in the public health system to reduce mortality and improve patient’s quality of life. Diseases are identified according to the International Classification of Diseases 10th Revision, a widely used terminology in this context. However, there are also different terminologies to codify a rare disease, such as the ORPHAcode provided by Orphanet. This paper proposes a complex network model using the terminologies’ relationship to show that the International Classification of Diseases 10th Revision may be generic for diagnosing rare Brazilian patients. Moreover, there is no perfect nomenclature to define rare diseases, but each context has a better application. So, mapping the relationship between each terminology is fundamental for creating consistent semantic relationships in biomedical ontologies, providing a functional environment for carrying out tasks involving more than one terminology.