PanCareSurPass Project HL7 FHIR Implementation Guide
0.2.0 - CI Build 150

PanCareSurPass Project HL7 FHIR Implementation Guide, published by PanCareSurPass Project. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/pcsp/ and changes regularly. See the Directory of published versions

: OrphaNet - XML Representation

Draft as of 2025-09-03

Raw xml | Download


<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="OrphaNet"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem OrphaNet</b></p><a name="OrphaNet"> </a><a name="hcOrphaNet"> </a><p>This case-sensitive code system <code>https://www.orpha.net</code> provides <b>a fragment</b> that includes following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style="white-space:nowrap">84<a name="OrphaNet-84"> </a></td><td>Fanconi anemia</td></tr><tr><td style="white-space:nowrap">100<a name="OrphaNet-100"> </a></td><td>Ataxia telangiectasia</td></tr><tr><td style="white-space:nowrap">109<a name="OrphaNet-109"> </a></td><td>Bannayan-Riley-Ruvalcaba syndrome</td></tr><tr><td style="white-space:nowrap">116<a name="OrphaNet-116"> </a></td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td style="white-space:nowrap">122<a name="OrphaNet-122"> </a></td><td>Birt-Hogg-Dube´ syndrome</td></tr><tr><td style="white-space:nowrap">125<a name="OrphaNet-125"> </a></td><td>Bloom syndrome</td></tr><tr><td style="white-space:nowrap">144<a name="OrphaNet-144"> </a></td><td>Lynch  Syndrome</td></tr><tr><td style="white-space:nowrap">145<a name="OrphaNet-145"> </a></td><td>Hereditary breast and ovarian cancer syndrome</td></tr><tr><td style="white-space:nowrap">201<a name="OrphaNet-201"> </a></td><td>Cowden Syndrome</td></tr><tr><td style="white-space:nowrap">321<a name="OrphaNet-321"> </a></td><td>Multiple osteochondromas</td></tr><tr><td style="white-space:nowrap">347<a name="OrphaNet-347"> </a></td><td>Frasier syndrome</td></tr><tr><td style="white-space:nowrap">373<a name="OrphaNet-373"> </a></td><td>Simpson-Golabi-Behmel syndrome</td></tr><tr><td style="white-space:nowrap">377<a name="OrphaNet-377"> </a></td><td>Gorlin syndrome</td></tr><tr><td style="white-space:nowrap">500<a name="OrphaNet-500"> </a></td><td>LEOPARD syndrome</td></tr><tr><td style="white-space:nowrap">523<a name="OrphaNet-523"> </a></td><td>Hereditary leiomyomatosis and renal cell cancer</td></tr><tr><td style="white-space:nowrap">524<a name="OrphaNet-524"> </a></td><td>Li-Fraumeni Syndrome</td></tr><tr><td style="white-space:nowrap">587<a name="OrphaNet-587"> </a></td><td>Muir Torre syndrome</td></tr><tr><td style="white-space:nowrap">618<a name="OrphaNet-618"> </a></td><td>Familial Melanoma</td></tr><tr><td style="white-space:nowrap">637<a name="OrphaNet-637"> </a></td><td>Neurofibromatosis type 2</td></tr><tr><td style="white-space:nowrap">647<a name="OrphaNet-647"> </a></td><td>Nijmegen breakage syndrome</td></tr><tr><td style="white-space:nowrap">648<a name="OrphaNet-648"> </a></td><td>Noonan syndrome</td></tr><tr><td style="white-space:nowrap">652<a name="OrphaNet-652"> </a></td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td style="white-space:nowrap">653<a name="OrphaNet-653"> </a></td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td style="white-space:nowrap">654<a name="OrphaNet-654"> </a></td><td>Nephroblastoma</td></tr><tr><td style="white-space:nowrap">660<a name="OrphaNet-660"> </a></td><td>Omphalocele</td></tr><tr><td style="white-space:nowrap">676<a name="OrphaNet-676"> </a></td><td>Hereditary chronic pancreatitis</td></tr><tr><td style="white-space:nowrap">733<a name="OrphaNet-733"> </a></td><td>Familial adenomatous polyposis</td></tr><tr><td style="white-space:nowrap">744<a name="OrphaNet-744"> </a></td><td>Proteus syndrome</td></tr><tr><td style="white-space:nowrap">805<a name="OrphaNet-805"> </a></td><td>Tuberous sclerosis complex</td></tr><tr><td style="white-space:nowrap">811<a name="OrphaNet-811"> </a></td><td>Shwachman-Diamond syndrome</td></tr><tr><td style="white-space:nowrap">821<a name="OrphaNet-821"> </a></td><td>Sotos syndrome</td></tr><tr><td style="white-space:nowrap">870<a name="OrphaNet-870"> </a></td><td>Down syndrome</td></tr><tr><td style="white-space:nowrap">881<a name="OrphaNet-881"> </a></td><td>Turner syndrome</td></tr><tr><td style="white-space:nowrap">892<a name="OrphaNet-892"> </a></td><td>von Hippel-Lindau syndrome</td></tr><tr><td style="white-space:nowrap">893<a name="OrphaNet-893"> </a></td><td>WAGR syndrome</td></tr><tr><td style="white-space:nowrap">902<a name="OrphaNet-902"> </a></td><td>Werner syndrome</td></tr><tr><td style="white-space:nowrap">906<a name="OrphaNet-906"> </a></td><td>Wiskott-Aldrich syndrome</td></tr><tr><td style="white-space:nowrap">910<a name="OrphaNet-910"> </a></td><td>Xeroderma pigmentosum</td></tr><tr><td style="white-space:nowrap">1331<a name="OrphaNet-1331"> </a></td><td>Familial prostate cancer</td></tr><tr><td style="white-space:nowrap">1340<a name="OrphaNet-1340"> </a></td><td>Cardio-Facio-Cutaneous (CFC) syndrome</td></tr><tr><td style="white-space:nowrap">1359<a name="OrphaNet-1359"> </a></td><td>Carney Complex</td></tr><tr><td style="white-space:nowrap">1572<a name="OrphaNet-1572"> </a></td><td>Common variable immune deficiency</td></tr><tr><td style="white-space:nowrap">1915<a name="OrphaNet-1915"> </a></td><td>Fetal alcohol syndrome</td></tr><tr><td style="white-space:nowrap">2128<a name="OrphaNet-2128"> </a></td><td>Isolated Hemihypertrophy</td></tr><tr><td style="white-space:nowrap">2346<a name="OrphaNet-2346"> </a></td><td>Angioosteohypertrophic syndrome</td></tr><tr><td style="white-space:nowrap">2442<a name="OrphaNet-2442"> </a></td><td>X-linked lymphoproliferative syndrome</td></tr><tr><td style="white-space:nowrap">2678<a name="OrphaNet-2678"> </a></td><td>Neurofibromatosis type 6</td></tr><tr><td style="white-space:nowrap">2869<a name="OrphaNet-2869"> </a></td><td>Peutz-Jeghers syndrome</td></tr><tr><td style="white-space:nowrap">2909<a name="OrphaNet-2909"> </a></td><td>Rothmund Thomson syndrome</td></tr><tr><td style="white-space:nowrap">2929<a name="OrphaNet-2929"> </a></td><td>Juvenile polyposis syndrome</td></tr><tr><td style="white-space:nowrap">3261<a name="OrphaNet-3261"> </a></td><td>Autoimmune lymphoproliferative syndrome</td></tr><tr><td style="white-space:nowrap">26106<a name="OrphaNet-26106"> </a></td><td>Hereditary diffuse gastric cancer</td></tr><tr><td style="white-space:nowrap">29072<a name="OrphaNet-29072"> </a></td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td style="white-space:nowrap">44890<a name="OrphaNet-44890"> </a></td><td>Gastrointestinal stromal tumor</td></tr><tr><td style="white-space:nowrap">47044<a name="OrphaNet-47044"> </a></td><td>Hereditary papillary renal cancer syndrome</td></tr><tr><td style="white-space:nowrap">77828<a name="OrphaNet-77828"> </a></td><td>Genetic obesity</td></tr><tr><td style="white-space:nowrap">93460<a name="OrphaNet-93460"> </a></td><td>Overgrowth syndrome</td></tr><tr><td style="white-space:nowrap">97286<a name="OrphaNet-97286"> </a></td><td>Carney-Stratakis Syndrome</td></tr><tr><td style="white-space:nowrap">99817<a name="OrphaNet-99817"> </a></td><td>Non-polyposis Turcot syndrome</td></tr><tr><td style="white-space:nowrap">99818<a name="OrphaNet-99818"> </a></td><td>Turcot Syndrome with polyposis</td></tr><tr><td style="white-space:nowrap">101088<a name="OrphaNet-101088"> </a></td><td>X-linked hyper-IgM syndrome</td></tr><tr><td style="white-space:nowrap">141145<a name="OrphaNet-141145"> </a></td><td>Hemifacial hyperplasia</td></tr><tr><td style="white-space:nowrap">156207<a name="OrphaNet-156207"> </a></td><td>Macroglossia</td></tr><tr><td style="white-space:nowrap">220460<a name="OrphaNet-220460"> </a></td><td>Attenuated familial adenomatous polyposis</td></tr><tr><td style="white-space:nowrap">231040<a name="OrphaNet-231040"> </a></td><td>Noonan syndrome with multiple lentigines</td></tr><tr><td style="white-space:nowrap">231108<a name="OrphaNet-231108"> </a></td><td>Familial rhabdoid tumor</td></tr><tr><td style="white-space:nowrap">251347<a name="OrphaNet-251347"> </a></td><td>Ataxia-telangiectasia-like disorder</td></tr><tr><td style="white-space:nowrap">295049<a name="OrphaNet-295049"> </a></td><td>Upper limb Hypertrophy</td></tr><tr><td style="white-space:nowrap">295051<a name="OrphaNet-295051"> </a></td><td>Lower limb hypertrophy</td></tr><tr><td style="white-space:nowrap">319487<a name="OrphaNet-319487"> </a></td><td>Familial follicular or papillary thyroid cancer</td></tr><tr><td style="white-space:nowrap">331223<a name="OrphaNet-331223"> </a></td><td>Hyper IgE Syndrome (HIES)</td></tr><tr><td style="white-space:nowrap">357027<a name="OrphaNet-357027"> </a></td><td>Hereditary retinoblastoma</td></tr><tr><td style="white-space:nowrap">363700<a name="OrphaNet-363700"> </a></td><td>Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</td></tr><tr><td style="white-space:nowrap">404560<a name="OrphaNet-404560"> </a></td><td>Familial atypical multiple mole melanoma syndrome</td></tr><tr><td style="white-space:nowrap">423776<a name="OrphaNet-423776"> </a></td><td>Hereditary gastric cancer</td></tr><tr><td style="white-space:nowrap">443909<a name="OrphaNet-443909"> </a></td><td>Hereditary nonpolyposis colon cancer</td></tr><tr><td style="white-space:nowrap">458830<a name="OrphaNet-458830"> </a></td><td>Rare capillary malformation with associated anomalies</td></tr></table></div>
  </text>
  <url value="https://www.orpha.net"/>
  <version value="0.2.0"/>
  <name value="OrphaNet"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2025-09-03T05:39:31+00:00"/>
  <publisher value="PanCareSurPass Project"/>
  <contact>
    <name value="PanCareSurPass Project"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.pancaresurpass.eu/"/>
    </telecom>
  </contact>
  <contact>
    <name value="PanCareSurPass Project"/>
    <telecom>
      <system value="url"/>
      <value value="https://www.pancaresurpass.eu/"/>
    </telecom>
  </contact>
  <description value="Orphanet selected codes"/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="150"/>
      <display value="Europe"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="fragment"/>
  <concept>
    <code value="84"/>
    <display value="Fanconi anemia"/>
  </concept>
  <concept>
    <code value="100"/>
    <display value="Ataxia telangiectasia"/>
  </concept>
  <concept>
    <code value="109"/>
    <display value="Bannayan-Riley-Ruvalcaba syndrome"/>
  </concept>
  <concept>
    <code value="116"/>
    <display value="Beckwith-Wiedemann syndrome"/>
  </concept>
  <concept>
    <code value="122"/>
    <display value="Birt-Hogg-Dube´ syndrome"/>
  </concept>
  <concept>
    <code value="125"/>
    <display value="Bloom syndrome"/>
  </concept>
  <concept>
    <code value="144"/>
    <display value="Lynch  Syndrome"/>
  </concept>
  <concept>
    <code value="145"/>
    <display value="Hereditary breast and ovarian cancer syndrome"/>
  </concept>
  <concept>
    <code value="201"/>
    <display value="Cowden Syndrome"/>
  </concept>
  <concept>
    <code value="321"/>
    <display value="Multiple osteochondromas"/>
  </concept>
  <concept>
    <code value="347"/>
    <display value="Frasier syndrome"/>
  </concept>
  <concept>
    <code value="373"/>
    <display value="Simpson-Golabi-Behmel syndrome"/>
  </concept>
  <concept>
    <code value="377"/>
    <display value="Gorlin syndrome"/>
  </concept>
  <concept>
    <code value="500"/>
    <display value="LEOPARD syndrome"/>
  </concept>
  <concept>
    <code value="523"/>
    <display value="Hereditary leiomyomatosis and renal cell cancer"/>
  </concept>
  <concept>
    <code value="524"/>
    <display value="Li-Fraumeni Syndrome"/>
  </concept>
  <concept>
    <code value="587"/>
    <display value="Muir Torre syndrome"/>
  </concept>
  <concept>
    <code value="618"/>
    <display value="Familial Melanoma"/>
  </concept>
  <concept>
    <code value="637"/>
    <display value="Neurofibromatosis type 2"/>
  </concept>
  <concept>
    <code value="647"/>
    <display value="Nijmegen breakage syndrome"/>
  </concept>
  <concept>
    <code value="648"/>
    <display value="Noonan syndrome"/>
  </concept>
  <concept>
    <code value="652"/>
    <display value="Multiple endocrine neoplasia type 1"/>
  </concept>
  <concept>
    <code value="653"/>
    <display value="Multiple endocrine neoplasia type 2"/>
  </concept>
  <concept>
    <code value="654"/>
    <display value="Nephroblastoma"/>
  </concept>
  <concept>
    <code value="660"/>
    <display value="Omphalocele"/>
  </concept>
  <concept>
    <code value="676"/>
    <display value="Hereditary chronic pancreatitis"/>
  </concept>
  <concept>
    <code value="733"/>
    <display value="Familial adenomatous polyposis"/>
  </concept>
  <concept>
    <code value="744"/>
    <display value="Proteus syndrome"/>
  </concept>
  <concept>
    <code value="805"/>
    <display value="Tuberous sclerosis complex"/>
  </concept>
  <concept>
    <code value="811"/>
    <display value="Shwachman-Diamond syndrome"/>
  </concept>
  <concept>
    <code value="821"/>
    <display value="Sotos syndrome"/>
  </concept>
  <concept>
    <code value="870"/>
    <display value="Down syndrome"/>
  </concept>
  <concept>
    <code value="881"/>
    <display value="Turner syndrome"/>
  </concept>
  <concept>
    <code value="892"/>
    <display value="von Hippel-Lindau syndrome"/>
  </concept>
  <concept>
    <code value="893"/>
    <display value="WAGR syndrome"/>
  </concept>
  <concept>
    <code value="902"/>
    <display value="Werner syndrome"/>
  </concept>
  <concept>
    <code value="906"/>
    <display value="Wiskott-Aldrich syndrome"/>
  </concept>
  <concept>
    <code value="910"/>
    <display value="Xeroderma pigmentosum"/>
  </concept>
  <concept>
    <code value="1331"/>
    <display value="Familial prostate cancer"/>
  </concept>
  <concept>
    <code value="1340"/>
    <display value="Cardio-Facio-Cutaneous (CFC) syndrome"/>
  </concept>
  <concept>
    <code value="1359"/>
    <display value="Carney Complex"/>
  </concept>
  <concept>
    <code value="1572"/>
    <display value="Common variable immune deficiency"/>
  </concept>
  <concept>
    <code value="1915"/>
    <display value="Fetal alcohol syndrome"/>
  </concept>
  <concept>
    <code value="2128"/>
    <display value="Isolated Hemihypertrophy"/>
  </concept>
  <concept>
    <code value="2346"/>
    <display value="Angioosteohypertrophic syndrome"/>
  </concept>
  <concept>
    <code value="2442"/>
    <display value="X-linked lymphoproliferative syndrome"/>
  </concept>
  <concept>
    <code value="2678"/>
    <display value="Neurofibromatosis type 6"/>
  </concept>
  <concept>
    <code value="2869"/>
    <display value="Peutz-Jeghers syndrome"/>
  </concept>
  <concept>
    <code value="2909"/>
    <display value="Rothmund Thomson syndrome"/>
  </concept>
  <concept>
    <code value="2929"/>
    <display value="Juvenile polyposis syndrome"/>
  </concept>
  <concept>
    <code value="3261"/>
    <display value="Autoimmune lymphoproliferative syndrome"/>
  </concept>
  <concept>
    <code value="26106"/>
    <display value="Hereditary diffuse gastric cancer"/>
  </concept>
  <concept>
    <code value="29072"/>
    <display value="Hereditary pheochromocytoma-paraganglioma"/>
  </concept>
  <concept>
    <code value="44890"/>
    <display value="Gastrointestinal stromal tumor"/>
  </concept>
  <concept>
    <code value="47044"/>
    <display value="Hereditary papillary renal cancer syndrome"/>
  </concept>
  <concept>
    <code value="77828"/>
    <display value="Genetic obesity"/>
  </concept>
  <concept>
    <code value="93460"/>
    <display value="Overgrowth syndrome"/>
  </concept>
  <concept>
    <code value="97286"/>
    <display value="Carney-Stratakis Syndrome"/>
  </concept>
  <concept>
    <code value="99817"/>
    <display value="Non-polyposis Turcot syndrome"/>
  </concept>
  <concept>
    <code value="99818"/>
    <display value="Turcot Syndrome with polyposis"/>
  </concept>
  <concept>
    <code value="101088"/>
    <display value="X-linked hyper-IgM syndrome"/>
  </concept>
  <concept>
    <code value="141145"/>
    <display value="Hemifacial hyperplasia"/>
  </concept>
  <concept>
    <code value="156207"/>
    <display value="Macroglossia"/>
  </concept>
  <concept>
    <code value="220460"/>
    <display value="Attenuated familial adenomatous polyposis"/>
  </concept>
  <concept>
    <code value="231040"/>
    <display value="Noonan syndrome with multiple lentigines"/>
  </concept>
  <concept>
    <code value="231108"/>
    <display value="Familial rhabdoid tumor"/>
  </concept>
  <concept>
    <code value="251347"/>
    <display value="Ataxia-telangiectasia-like disorder"/>
  </concept>
  <concept>
    <code value="295049"/>
    <display value="Upper limb Hypertrophy"/>
  </concept>
  <concept>
    <code value="295051"/>
    <display value="Lower limb hypertrophy"/>
  </concept>
  <concept>
    <code value="319487"/>
    <display value="Familial follicular or papillary thyroid cancer"/>
  </concept>
  <concept>
    <code value="331223"/>
    <display value="Hyper IgE Syndrome (HIES)"/>
  </concept>
  <concept>
    <code value="357027"/>
    <display value="Hereditary retinoblastoma"/>
  </concept>
  <concept>
    <code value="363700"/>
    <display
             value="Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"/>
  </concept>
  <concept>
    <code value="404560"/>
    <display value="Familial atypical multiple mole melanoma syndrome"/>
  </concept>
  <concept>
    <code value="423776"/>
    <display value="Hereditary gastric cancer"/>
  </concept>
  <concept>
    <code value="443909"/>
    <display value="Hereditary nonpolyposis colon cancer"/>
  </concept>
  <concept>
    <code value="458830"/>
    <display value="Rare capillary malformation with associated anomalies"/>
  </concept>
</CodeSystem>