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Orphanet : Ziekten
<!DOCTYPE html> <html lang="nl"> <head> <script src="https://tarteaucitron.io/load.js?domain=www.orpha.net&uuid=bf83258dd5f3bc0f8040bc1a95eedc2ec3ca1a62"></script> <meta charset="UTF-8"> <meta name="viewport" content="width=device-width, initial-scale=1"> <meta name="google-site-verification" content="9sM3zazZuWJ_PI134Dxgq_MqlUEWRYULwgLG7sAaZ4w" > <title>Orphanet : Ziekten</title> <link rel="shortcut icon" href="/build/images/favicon.png" type="image/png" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-VY3XS4G203"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-VY3XS4G203'); </script> <link rel="stylesheet" href="/build/app.a8417b5e.css"> </head> <body> <header class="menu d-print-none"> <div class="fixed-top container-fluid d-flex justify-content-between p-0"> <nav> <a href="#menu" class="d-inline-block h-100"> <div class="burger-button closed h-100 py-3 px-2 d-flex 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right"></i><a href="/nl/other-information/procedures">Orphanet procedures</a></li> </ul> </li> </ul> <div class="container mx-auto d-flex justify-content-around px-1"> <div class="bg-white col-9 row d-lg-flex d-none px-3 py-5"> <div class="col-6 pe-lg-4"> <div class="border-end border-1 border-dark"> <h5 class="orpha-blue fw-bold">Orphanet-data worden aangemaakt volgens gepubliceerde procedures</h5> <a class="btn-blue mt-3" href="/nl/other-information/procedures">Read</a> </div> </div> <div class="col-6 ps-lg-4 news-menu"> <ul class="list-unstyled mx-auto"> <li><a class="orpha-blue fw-bold" href="//ec.europa.eu/health-eu/health_problems/rare_diseases/index_en.html" title="Rare Diseases - European Commission">Rare Diseases - European Commission</a></li> <li><a class="orpha-blue fw-bold" href="//www.rd-action.eu/" title="RD-Action">RD-Action</a></li> <li><a class="orpha-blue fw-bold" href="//www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/landing/orphan_search.jsp&mid=WC0b01ac058001d12b" title="European Medicines Agency">European Medicines Agency</a></li> <li><a class="orpha-blue fw-bold" href="//www.irdirc.org/" title="IRDiRC">IRDiRC</a></li> <li><a class="orpha-blue fw-bold" href="//rarediseases.info.nih.gov/" title="Office of rare diseases research (US)">Office of rare diseases research (US)</a></li> <li><a class="orpha-blue fw-bold" href="https://ec.europa.eu/health/rare_diseases/expert_group_en" title="EC Expert Group on Rare Diseases (EU)">EC Expert Group on Rare Diseases (EU)</a></li> <li><a class="orpha-blue fw-bold" href="//ec.europa.eu/health/ern/networks_en" title="European Reference Networks">European Reference Networks</a></li> <li><a class="orpha-blue fw-bold" href="https://ojrd.biomedcentral.com/" title="header.ern_ojrd_texttext">OJRD</a> </li> </ul> </div> </div> <div class="col-lg-3 col-12 row bg-white ms-2 text-center report-button align-self-start opacity-hover"> <a href="/nl/other-information/reports" class="text-white h2 text-decoration-none p-5">Orphanet rapporten</a> </div> </div> <div class="container d-flex mx-auto justify-content-around gap-4 my-4 flex-wrap"> <div class="col-lg-4 col-12 row text-center opacity-hover border-orpha-news border-4 border"> <a href="https://international.orphanews.org/home.html" class="text-white h2 text-decoration-none align-self-center px-5 py-3"> <img class="align-self-center" height="45" alt="Lees de laatste nieuwsbrief" src="/build/images/logo-orphanews.png"> </a> </div> <div class="col-lg-4 col-12 row text-center opacity-hover border-orpha-data border-4 border"> <a href="//www.orphadata.com/" class="text-white h2 text-decoration-none align-self-center px-5 py-3"> <img class="align-self-center" height="45" alt="Naar Orphadata" src="/build/images/logo-orphadata.png"> </a> </div> <div class="col-lg-4 col-12 row text-center opacity-hover border-blue border-4 border"> <a href="//www.orphadata.com/ontologies/" class="text-white h2 text-decoration-none align-self-center px-5 py-3"> <img class="align-self-center" height="45" alt="Access ORDO" src="/build/images/logo-ordo.png"> </a> </div> </div> </nav> <div class="modal fade " id="socialShare" tabindex="-1" aria-labelledby="socialShare" aria-hidden="true"> <div class="modal-dialog"> <div class="modal-content rounded-0"> <div class="modal-header p-0 justify-content-end"> <div type="button" class="text-white bg-orpa-blue py-1 px-3 fs-4" data-bs-dismiss="modal" aria-label="Close">X</div> </div> <div class="modal-body"> <ul class="list-unstyled text-center"> <li class="mb-4"> <a class="orpha-blue" href="https://www.twitter.com/share?url=http://www.orpha.net/nl/disease/classification/list/name/X-gebonden-adrenoleukodystrofie?orphaCode=43" target="_blank" title="Deel"> <i class="fab fa-lg fa-twitter"></i> Deel</a> </li> <li> <a class="orpha-blue" href="https://www.facebook.com/sharer/sharer.php?u=http://www.orpha.net/nl/disease/classification/list/name/X-gebonden-adrenoleukodystrofie?orphaCode=43" target="_blank" title="Deel"> <i class="fab fa-lg fa-facebook-square"></i> Deel</a> </li> </ul> </div> </div> </div> </div> </header> <main class="container-fluid p-0"> <article class="diseases w-100 py-5"> <header class="row-fluid text-center"> <div class="col-12 my-4"> <div class="current-event"> <div class="mt-5 d-flex justify-content-center"> <div class="bandeau-search"> <a href="https://www.rarediseaseday.org/"> <img src="/images/banner.png" alt="Rare Disease Day 2025" class="img-fluid" /> </a> </div> </div> <h1 class="current-image-title mb-0">Kennis over <strong>zeldzame</strong> ziekten en <strong>weesgeneesmiddelen</strong></h1> <a class="orpha-blue small text-decoration-underline" href="http://international.orphanews.org/summary/editorial/nl/id-200327.html" target="_blank" title="COVID-19 & Zeldzame Ziekten"> COVID-19 & Zeldzame Ziekten </a> <img class="img-fluid" alt="logo" src="/build/images/logoMain.png" width="4%"> <a class="orpha-blue small text-decoration-underline" href="https://international.orphanews.org/newsletter-en/editorial/nl/en20200314.html#or_resources-for-refugees-and-displaced-persons-with-rare-diseasesFR/IP_22_1469" target="_blank" title="Hulpbronnen voor Zeldzame Ziekten voor Vluchtelingen/Ontheemden"> Hulpbronnen voor Zeldzame Ziekten voor Vluchtelingen/Ontheemden </a> </div> </div> </header> <article class="row gx-0 gb-2"> <div class="col-xxl-9 col-lg-11 col-11 mx-auto service-wrapper pb-5"> <header class="row g-0 mb-4"> <aside class="d-none d-sm-none d-lg-block col-2"> <div class="h-100 w-100 d-flex flex-column justify-content-evenly text-center service-card py-4 px-2"> <span class="icon-container"><i class="fas fa-viruses fa-3x"></i></span> <span>Zeldzame ziekten</span> </div> </aside> <div class="col-10"> <div class="h-100 w-100 d-flex flex-column justify-content-evenly ps-4 mt-4 mt-md-0 d-print-none"> <span class="my-sm-3 icon-container"><a href="/nl">Startpagina</a> > <a href="/nl/disease">Zeldzame ziekten</a> > <strong><a href="/nl/disease/classification">Classificaties</a></strong></span> <h2>Zoek een classificatie</h2> </div> </div> </header> <main class="row g-0"> <nav class="d-none d-sm-none d-lg-block col-2"> <ul class="list-unstyled"> <li class=""><a target="_self" href=/nl/disease> Zoek</a></li> <li class=""><a target="_self" href=/nl/disease/signs> Klinische tekenen en symptomen</a></li> <li class="current"><a target="_self" href=/nl/disease/classification> Classificaties</a></li> <li class=""><a target="_self" href=/nl/disease/gene> Genen</a></li> <li class=""><a target="_self" href=/nl/disease/disability> Beperking</a></li> <li class=""><a target="_self" href=/nl/disease/encyclopedia> Encyclopedie</a></li> <li class=""><a target="_self" href=/nl/disease/emergency-guidelines> Richtlijnen voor spoedgevallen</a></li> <li><a target="_blank" href=//nbs.orphanet.app/?lang=en> Informatie over neonatale screening</a></li> <li><a target="_blank" href=https://orphanetguides.orphanet.app/Orphanet_rdk_en.htm> App RDK TM</a></li> <li class=""><a target="_self" href=/nl/other-information/procedures> Bronnen/procedures</a></li> <li class=""><a target="_self" href=/nl/other-information/reports> Orphanet Reports series</a></li> <li><a target="_blank" href=//www.orphadata.com/> Gegevensset downloaden</a></li> </ul> </nav> <div class="col-sm-12 col-lg-10 col-xl-10"> <fieldset class="service-color-box align-self-start mx-4 p-3 mb-5 d-print-none"> <form name="classification_search" method="post" action="/nl/disease/classification"> <div class="row"> <span class="dark-red col-md-9 col-xl-10 col-12 text-end">*</span> <div class="col-12 col-xl-10 col-md-9"> <div> <input type="text" id="classification_search_name" name="classification_search[name]" required="required" placeholder="Ziektenaam" class="js-autocomplete form-control" data-autocomplete-url="/nl/disease/autocomplete/disorders_search_nl" value="X-gebonden-adrenoleukodystrofie" /> <small class="dark-red"> (*) verplicht veld </small> </div> </div> <div class="col-12 col-xl-2 col-md-3 mt-2 mt-md-0"> <button type="submit" id="classification_search_search" name="classification_search[search]" class="btn-primary btn">Zoek</button> </div> </div> <div class="mode mt-3 p-2 col-12 col-xl-6 col-lg-10 mb-3"> <div id="classification_search_mode" class="search-mode"><div class="form-check"><input type="radio" id="classification_search_mode_0" name="classification_search[mode]" required="required" class="form-check-input" value="name" checked="checked" /> <label class="form-check-label required" for="classification_search_mode_0">Ziektenaam</label></div><div class="form-check"><input type="radio" id="classification_search_mode_1" name="classification_search[mode]" required="required" class="form-check-input" value="orpha" /> <label class="form-check-label required" for="classification_search_mode_1">ORPHAcode</label></div></div> </div> </form> <div class="float-md-end float-sm-start"> <span class="fw-bold service-color"> Andere zoekoptie(s) </span> <ul class="list-unstyled results"> <li> <a class="fw-bold text-black" href="/nl/disease/classification/heads">Bekijk de volledige classificatie</a> </li> </ul> </div> </fieldset> <div class="row g-0"> <div class="col-12"> <h2 class="ms-4 gene-color">6 Resultaat/Resultaten</h2> <div class="mx-4 results dark-red-box service-color-box"> <ul class="list-unstyled"> <li class="m-4"><i class="fas fa-angle-right orpha-blue"></i> <a href="/nl/disease/classification/group/506203?orphaCode=43&firstParent=0&name=X-gebonden-adrenoleukodystrofie&mode=name"> Classification of rare disorders indicated for transplant </a> </li> <li class="m-4"><i class="fas fa-angle-right orpha-blue"></i> <a href="/nl/disease/classification/group/156449?orphaCode=43&firstParent=0&name=X-gebonden-adrenoleukodystrofie&mode=name"> Orphanet classificatie van zeldzame aangeboren stofwisselingsstoornissen </a> </li> <li class="m-4"><i class="fas fa-angle-right orpha-blue"></i> <a href="/nl/disease/classification/group/162946?orphaCode=43&firstParent=0&name=X-gebonden-adrenoleukodystrofie&mode=name"> Orphanet classificatie van zeldzame endocriene aandoeningen </a> </li> <li class="m-4"><i class="fas fa-angle-right orpha-blue"></i> <a href="/nl/disease/classification/group/158293?orphaCode=43&firstParent=0&name=X-gebonden-adrenoleukodystrofie&mode=name"> Orphanet classificatie van zeldzame genetische aandoeningen </a> </li> <li class="m-4"><i class="fas fa-angle-right orpha-blue"></i> <a href="/nl/disease/classification/group/162508?orphaCode=43&firstParent=0&name=X-gebonden-adrenoleukodystrofie&mode=name"> Orphanet classificatie van zeldzame neurologische aandoeningen </a> </li> <li class="m-4"><i class="fas fa-angle-right orpha-blue"></i> <a href="/nl/disease/classification/group/162970?orphaCode=43&firstParent=0&name=X-gebonden-adrenoleukodystrofie&mode=name"> Orphanet classificatie van zeldzame onvruchtbaarheidstoornissen </a> </li> </ul> </div> </div> </div> </div> </main> </div> </article> </article> </main> <script src="/build/runtime.f3575a88.js" defer></script><script src="/build/755.5a8586e9.js" defer></script><script src="/build/673.f47275b8.js" defer></script><script src="/build/467.7cd7293e.js" defer></script><script src="/build/app.3c0fe482.js" defer></script> <script type="application/json" data-placeholders> {"gene":"Gennaam of -symbool","name":"Ziektenaam","orpha":"ORPHAcode","mim":"OMIM-nummer (ziekte)","mimg":"OMIM-nummer (gen)","omim":"OMIM-nummer (ziekte)","icd10":"ICD-10","icd11":"ICD-11"} </script> </body> <footer> <section class="partners bg-white my-3 d-print-none"> <h3 class="fs-5 text-center orpha-blue fw-bold">Met de steun van</h3> <div class="row col-lg-10 mx-auto my-4"> <ul class="list-unstyled d-inline-flex col-12 col-lg-6 flex-wrap justify-content-evenly align-items-center border-blue"> <li class="d-inline"> <a title="Site Internet de l'Inserm" href="//www.inserm.fr/" target="_blank"> <img src="/build/images/partners/logo-inserm.png" height="20px" alt="Site Internet de l'Inserm"> </a> </li> <li class="d-inline"> <a title="Link to the French Ministry of Health" href="//www.sante.gouv.fr/" target="_blank"> <img src="/build/images/partners/logo-sante_jeunesse_sports.png" alt="Link to the French Ministry of Health"> </a> </li> <li class="d-inline"> <a title="Link to CEE website" href="//health.ec.europa.eu/rare-diseases-and-european-reference-networks/rare-diseases_en" target="_blank"> <img src="/build/images/partners/logo-CEE_RDPortal.jpg" alt="Link to CEE website"> </a> </li> </ul> <ul class="list-unstyled d-inline-flex col-12 col-lg-6 flex-wrap justify-content-evenly align-items-center"> <li class="d-inline"> <a title="Site Internet de l'AFM" href="//www.afm-telethon.fr" target="_blank"> <img src="/build/images/partners/logo-AFM.jpg" alt="Site Internet de l'AFM"> </a> </li> <li class="d-inline"> <a title="Site Internet de Groupama" href="//www.fondation-groupama.com" target="_blank"> <img style="width:105px;" src="/build/images/partners/groupama.jpg" alt="Site Internet de Groupama"></a> </li> <li class="d-inline"> <a title="Institut fran莽ais de Bioinformatique" href="//www.france-bioinformatique.fr/?q=fr/orphanet" target="_blank"> <img src="/build/images/partners/Institut-Francais-de-Bioinformatique-IFB-petit.png" alt="Institut fran莽ais de Bioinformatique"> </a> </li> </ul> <h3 class="fs-5 text-center orpha-blue fw-bold">Orphanet wordt erkend door</h3> <div class="row col-lg-10 mx-auto my-4"> <ul class="list-unstyled d-inline-flex col-12 flex-wrap justify-content-center align-items-center"> <li class="d-inline me-4"> <a title="information sur le label IRDiRC" href="//www.irdirc.org/activities/irdirc-recognized-resources/" target="_blank"> <img 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