<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1135-5727</journal-id>
<journal-title><![CDATA[Revista Española de Salud Pública]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Esp. Salud Publica]]></abbrev-journal-title>
<issn>1135-5727</issn>
<publisher>
<publisher-name><![CDATA[Ministerio de Sanidad]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1135-57272018000100301</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Implementando un registro poblacional de enfermedades raras en España: la experiencia de Navarra]]></article-title>
<article-title xml:lang="en"><![CDATA[Implementing a population-based rare diseases registry in Spain: the Navarre´s experience]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vicente]]></surname>
<given-names><![CDATA[Esther]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A3"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guevara]]></surname>
<given-names><![CDATA[Marcela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A4"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lasanta]]></surname>
<given-names><![CDATA[María J]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramos-Arroyo]]></surname>
<given-names><![CDATA[María A]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A6"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ardanaz]]></surname>
<given-names><![CDATA[Eva]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A4"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Salud Pública y Laboral de Navarra Servicio de Promoción de la Salud Comunitaria Sección del Observatorio de la Salud Comunitaria]]></institution>
<addr-line><![CDATA[Pamplona ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Pública de Navarra Departamento de Ciencias de la Salud ]]></institution>
<addr-line><![CDATA[Pamplona ]]></addr-line>
<country>Spain</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto de Investigación Sanitaria de Navarra (IdiSNA)  ]]></institution>
<addr-line><![CDATA[Pamplona ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Centro de Investigación Biomédica En Red de Epidemiología y Salud Pública (CIBERESP)  ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Dirección General de Salud de Gobierno de Navarra Servicio de Ciudadanía Sanitaria, Aseguramiento y Garantías ]]></institution>
<addr-line><![CDATA[Pamplona ]]></addr-line>
<country>España</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Complejo Hospitalario de Navarra Servicio de Genética Médica ]]></institution>
<addr-line><![CDATA[Pamplona ]]></addr-line>
<country>España</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2018</year>
</pub-date>
<volume>92</volume>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1135-57272018000100301&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1135-57272018000100301&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1135-57272018000100301&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN En 2012 se consolidó la Red Española de Registros de Enfermedades Raras para la Investigación (Spain-RDR) con el objetivo de crear un Registro poblacional español de Enfermedades Raras. Para conseguirlo, cada Comunidad Autónoma tenía que desarrollar su propio registro autonómico con una metodología común consensuada. El Registro Poblacional de Enfermedades Raras de Navarra se creó en 2013 y, desde entonces, se está desarrollando su implementación. Navarra asumió el listado consensuado dentro de la Red, que incluye 934 códigos de la 9ª revisión de la Clasificación Internacional de Enfermedades (modificación clínica). Inicialmente, la principal fuente de información utilizada para la captación de casos fue el Registro de Morbilidad Asistida de Navarra, que recoge el Conjunto Mínimo Básico de Datos de las altas hospitalarias (de centros públicos y privados) de la Comunidad Foral. Posteriormente se fueron añadiendo nuevas fuentes de información y desarrollando continuos estudios de validación de los casos captados. Los registros poblacionales de enfermedades raras son fundamentales para el estudio y cuantificación de este tipo de enfermedades ya que los sistemas de clasificación y codificación utilizados en los actuales sistemas de información sanitaria son muy inespecíficos. El análisis y cruce de datos entre múltiples fuentes es esencial para maximizar la capacidad de detección de casos. Al tratarse de enfermedades muy poco prevalentes, una tasa alta de falsos positivos entre los casos detectados afecta en gran medida la estimación de indicadores epidemiológicos, lo que hace necesario validar los casos verificando los diagnósticos.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT In 2012, the Spanish Rare Disease Registries Research Network (Spain-RDR) was consolidated with the aim of creating a Spanish population-based Rare Diseases Registry. In order to achieve this, each of the 17 Spanish Regions had to develop its own regional registry with a common agreed methodology. The Population-based Rare Disease Registry of Navarre was created in 2013 and, since then, its implementation is been carried out. Navarre assumed the agreed list within the Spanish Network, which included 934 codes of the International Classification of Diseases, 9th Revision, Clinical Modification. Initially, the main data source used to capture cases was the Assisted Morbidity Registry of Navarre, which includes the Minimum Basic Data Set of every regional hospital discharges (both public and private). Afterwards, new data sources were been added and ongoing validation studies of captured cases were been developed. Population-based rare diseases registries are fundamental for the study and quantification of this type of diseases since the classification and coding systems used in the current healthcare information systems are very nonspecific. The analysis and cross-referencing of data among multiple data sources is essential to maximize case detection capacity. Due to the low prevalence of these diseases, a high false positives rate among the detected cases greatly affects the estimation of epidemiological indicators, which makes it necessary to validate the cases by verifying the diagnoses.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedades raras]]></kwd>
<kwd lng="es"><![CDATA[Registros]]></kwd>
<kwd lng="es"><![CDATA[Sistemas de información]]></kwd>
<kwd lng="es"><![CDATA[Epidemiología]]></kwd>
<kwd lng="es"><![CDATA[Prevalencia]]></kwd>
<kwd lng="en"><![CDATA[Rare diseases]]></kwd>
<kwd lng="en"><![CDATA[Registries]]></kwd>
<kwd lng="en"><![CDATA[Information systems]]></kwd>
<kwd lng="en"><![CDATA[Epidemiology]]></kwd>
<kwd lng="en"><![CDATA[Prevalence]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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