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Lèxic de malalties minoritàries


Lèxic de malalties minoritàries - Presentació

© Authors: Government of Catalonia. Ministry of Health; TERMCAT, Centre for Terminology
© Publisher: TERMCAT, Centre for Terminology, 2019-2022
In collaboration with: Catalan Health Service (CatSalut.); Societat Catalana del Diccionari Enciclopèdic de Medicina (SocDEMCAT)


The Lèxic de malalties minoritàries (‘Lexicon of rare diseases’) brings together more than 1.240 terms associated with these diseases, mostly autoinflammatory diseases, systemic autoimmune diseases, hereditary metabolic diseases, neuromuscular diseases, primary immunodeficiencies epilepsies, respiratory diseases, and cognitive-behavioral diseases with a genetic basis in adults.

The terms come from sectoral terminology work carried out in the ongoing projects in the field of health sciences. The work we present has been prepared in collaboration with experts belonging to Catalan Health Service (CatSalut) and Societat Catalana del Diccionari Enciclopèdic de Medicina.

The initial version of the lexicon, planned as an open project, was published in December 2019. From then on, the dictionary has been updated annually, in 2020, 2021 and 2022. In addition of the mentioned institutions, in the first version were also involved the team of linguists of ésAdir (the language portal of the Catalan Audiovisual Media Corporation [CCMA]) and Fundació La Marató de TV3, in support of La Marató de TV3, a television programme that in the 2019 edition was focused on promoting the advances in rare diseases research.

Each terminological entry contains the preferred denomination in Catalan and the corresponding synonyms, if any; equivalents in Spanish, French, English and the ORPHA number from Orphanet when it is available. It also includes the thematic area or areas each term belongs to.

Clicking on "Consulta de termes" (‘Term search’), terms can be looked up in two ways: using the alphabetical indexes (there is a different index for each language) or using advanced searches in the upper space "Text de la consulta" (‘Text search’) in any of the dictionary languages.


Work team
Concept diagram



Departament de Salut     TERMCAT





In collaboration with:

CatSalut. Servei Catala de la Salut          Societat Catalana del Diccionari Enciclopèdic de Medicina (SOCDEMCAT)


CATALUNYA. DEPARTAMENT DE SALUT; TERMCAT, CENTRE DE TERMINOLOGIA. Lèxic de malalties minoritàries [en línia]. Barcelona: TERMCAT, Centre de Terminologia, cop. 2019-2022. (Diccionaris en Línia)


Darrera actualització: 24-02-2023