Francisco J. This paper focuses on the terminological development of fifty-four rare diseases. It analyzes the degree of lexical acceptance that these terms have and have had —over time— in their treatment and inclusion in academic dictionaries of Spanish language. Until now, only twenty of the selected terms have been included in DRAE , accounting for This situation shows the lack of solid criteria in incorporating new terms about rare diseases in this general dictionary. The most noticeable case is fibromyalgia, a pathology that has recently ceased to be considered a rare disease, which, however, does not appear in DRAE.

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Aurelia Ojeda Sanchez. No Downloads. Views Total views. Actions Shares. Embeds 0 No embeds. No notes for slide. Sindrome de Hunter mucopolisacaridosis tipo 2 1. Hunter Gertrud Hurler Nja. Retraso Mental Hidrocefalia P. Normal a Retraso Leve Discretas opacidades corneales Papiledema cronico Hipertelorismo Parpados Abotagados Frente prominente Aparencia pictorica Mejillas rosadas Microcefalia o macrocefalia Esanchamiento de calota Escafocefalia Hipertonia Labial Macroglosia Mordida A.

Insuficiencia Mitral Hepatomegalia BazomegaliaHerniaumbilical Herniainguinal Hepato y esplenomegalia Diarrea cronica Hernia inguinal Hernia umbilical National Institute of Neurological Disorders and Stroke. Martin R et al. Paediatrics Wraith JE et al. Eur J Pedaitr ; Braverman NE et al. Date assessed: September Clarke LA. Expert Rev Mol Med ; e1. Roberts SH et al. J Med Genet ; Wilson PJ et al. Hum genet ; Hopwood JJ et al. Hum Mutat ; 2: Pediatrics Froissart R et al. Clin Genet; Timms KM et al.

Hum Mol Get ; 6: Froissant R et al. Meikle PJ et al. J Am Med Assoc ; Pediatrics ; ee Neufeld EF, Muenzer J. Acta Paediatr ; 91 Suppl. Adapted from Muenzer J et al. You just clipped your first slide! Clipping is a handy way to collect important slides you want to go back to later. Now customize the name of a clipboard to store your clips. Visibility Others can see my Clipboard. Cancel Save.


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