{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T11:34:00Z","timestamp":1785929640471,"version":"3.56.0"},"reference-count":0,"publisher":"Universidad Nacional de Colombia","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. salud p\u00fablica"],"abstract":"<jats:p>Objetivo Estimar la frecuencia de enfermedades hu\u00e9rfanas (EH) o raras (ER) de origen gen\u00e9tico en Cartagena de Indias, Colombia.Metodolog\u00eda Se realiz\u00f3 un estudio descriptivo con datos de los Registros Individuales de Prestaci\u00f3n de Servicios (RIPS), del periodo 2003-2010, conservados por el Departamento Administrativo Distrital de Salud-DADIS. Fueron escogidas las EH de origen gen\u00e9tico a partir de la clasificaci\u00f3n del Ministerio de Salud Colombiano, y que se identifican con la referencia Q en los C\u00f3digos Internacionales de Enfermedad (CIE10).Resultados En total se registraron 522 181 personas que consultaron al sistema de salud. El 0,8 % (n=16 527) tuvieron alg\u00fan diagn\u00f3stico Q. Finalmente, 391 personas (0,075 %) tuvieron impresi\u00f3n diagn\u00f3stica de EH de origen gen\u00e9tico. En esta poblaci\u00f3n se encontraron 75 impresiones diagn\u00f3sticas distintas. Las Malformaciones y Deformidades Cong\u00e9nitas del Sistema Osteomuscular (Q65-Q79) fueron las m\u00e1s frecuentes (38,6 %), seguidas por Otras Malformaciones Cong\u00e9nitas (Q080-089) con 16,6 %.Conclusiones Se obtuvo el primer reporte de la frecuencia de las EH de origen gen\u00e9tico en la segunda ciudad m\u00e1s poblada sobre el litoral del Caribe Colombiano. Es posible que en los RIPS haya un subregistro de las ER que dificulta conocer la prevalencia real.<\/jats:p>","DOI":"10.15446\/rsap.v18n6.53962","type":"journal-article","created":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T21:27:37Z","timestamp":1487798857000},"page":"858","source":"Crossref","is-referenced-by-count":2,"title":["Frecuencia de enfermedades hu\u00e9rfanas en Cartagena de Indias, Colombia"],"prefix":"10.15446","volume":"18","author":[{"given":"Dacia Isabel","family":"Malambo-Garcia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossana","family":"Lopez-Saleme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo Jose","family":"Mora-Garcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Ramos-Clason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Mazenett-Granados","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego Ernesto","family":"Herrera-Malambo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Gomez-Camargo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"6146","published-online":{"date-parts":[[2016,11,1]]},"container-title":["Revista de Salud P\u00fablica"],"original-title":[],"link":[{"URL":"http:\/\/www.revistas.unal.edu.co\/index.php\/revsaludpublica\/article\/viewFile\/53962\/58804","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.revistas.unal.edu.co\/index.php\/revsaludpublica\/article\/viewFile\/53962\/58804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T18:13:55Z","timestamp":1710267235000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.revistas.unal.edu.co\/index.php\/revsaludpublica\/article\/view\/53962"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,1]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2016,11,1]]}},"URL":"https:\/\/doi.org\/10.15446\/rsap.v18n6.53962","relation":{},"ISSN":["2539-3596","0124-0064"],"issn-type":[{"value":"2539-3596","type":"electronic"},{"value":"0124-0064","type":"print"}],"subject":[],"published":{"date-parts":[[2016,11,1]]}}}