PanCareSurPass Project HL7 FHIR Implementation Guide
1.0.0 - release 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 1.0.0 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

## : Hereditary Predispositions (Orphacode) - XML Representation

Active as of 2025-10-16

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    <ValueSet xmlns="http://hl7.org/fhir">
      <id value="vs-orpha-predisposition-eu-pcsp"/>
      <text>
        <status value="extensions"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet vs-orpha-predisposition-eu-pcsp</b></p><a name="vs-orpha-predisposition-eu-pcsp"> </a><a name="hcvs-orpha-predisposition-eu-pcsp"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href="CodeSystem-OrphaNet.html"><code>https://www.orpha.net</code></a><span title="Version is not explicitly stated, which means it is fixed to the version provided in this specification"> version &#x1F4E6;1.0.0</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-84">84</a></td><td>Fanconi anemia</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-100">100</a></td><td>Ataxia telangiectasia</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-109">109</a></td><td>Bannayan-Riley-Ruvalcaba syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-116">116</a></td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-122">122</a></td><td>Birt-Hogg-Dube´ syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-125">125</a></td><td>Bloom syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-144">144</a></td><td>Lynch  Syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-145">145</a></td><td>Hereditary breast and ovarian cancer syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-201">201</a></td><td>Cowden Syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-321">321</a></td><td>Multiple osteochondromas</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-347">347</a></td><td>Frasier syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-373">373</a></td><td>Simpson-Golabi-Behmel syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-377">377</a></td><td>Gorlin syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-500">500</a></td><td>LEOPARD syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-523">523</a></td><td>Hereditary leiomyomatosis and renal cell cancer</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-524">524</a></td><td>Li-Fraumeni Syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-587">587</a></td><td>Muir Torre syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-618">618</a></td><td>Familial Melanoma</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-637">637</a></td><td>Neurofibromatosis type 2</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-647">647</a></td><td>Nijmegen breakage syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-648">648</a></td><td>Noonan syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-652">652</a></td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-653">653</a></td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-654">654</a></td><td>Nephroblastoma</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-660">660</a></td><td>Omphalocele</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-676">676</a></td><td>Hereditary chronic pancreatitis</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-733">733</a></td><td>Familial adenomatous polyposis</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-744">744</a></td><td>Proteus syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-805">805</a></td><td>Tuberous sclerosis complex</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-811">811</a></td><td>Shwachman-Diamond syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-821">821</a></td><td>Sotos syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-870">870</a></td><td>Down syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-881">881</a></td><td>Turner syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-892">892</a></td><td>von Hippel-Lindau syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-893">893</a></td><td>WAGR syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-902">902</a></td><td>Werner syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-906">906</a></td><td>Wiskott-Aldrich syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-910">910</a></td><td>Xeroderma pigmentosum</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-1331">1331</a></td><td>Familial prostate cancer</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-1340">1340</a></td><td>Cardio-Facio-Cutaneous (CFC) syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-1359">1359</a></td><td>Carney Complex</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-1572">1572</a></td><td>Common variable immune deficiency</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-1915">1915</a></td><td>Fetal alcohol syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-2128">2128</a></td><td>Isolated Hemihypertrophy</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-2346">2346</a></td><td>Angioosteohypertrophic syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-2442">2442</a></td><td>X-linked lymphoproliferative syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-2678">2678</a></td><td>Neurofibromatosis type 6</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-2869">2869</a></td><td>Peutz-Jeghers syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-2909">2909</a></td><td>Rothmund Thomson syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-2929">2929</a></td><td>Juvenile polyposis syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-3261">3261</a></td><td>Autoimmune lymphoproliferative syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-26106">26106</a></td><td>Hereditary diffuse gastric cancer</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-29072">29072</a></td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-44890">44890</a></td><td>Gastrointestinal stromal tumor</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-47044">47044</a></td><td>Hereditary papillary renal cancer syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-77828">77828</a></td><td>Genetic obesity</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-93460">93460</a></td><td>Overgrowth syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-97286">97286</a></td><td>Carney-Stratakis Syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-99817">99817</a></td><td>Non-polyposis Turcot syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-99818">99818</a></td><td>Turcot Syndrome with polyposis</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-101088">101088</a></td><td>X-linked hyper-IgM syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-141145">141145</a></td><td>Hemifacial hyperplasia</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-156207">156207</a></td><td>Macroglossia</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-220460">220460</a></td><td>Attenuated familial adenomatous polyposis</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-231040">231040</a></td><td>Noonan syndrome with multiple lentigines</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-231108">231108</a></td><td>Familial rhabdoid tumor</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-251347">251347</a></td><td>Ataxia-telangiectasia-like disorder</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-295049">295049</a></td><td>Upper limb Hypertrophy</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-295051">295051</a></td><td>Lower limb hypertrophy</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-319487">319487</a></td><td>Familial follicular or papillary thyroid cancer</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-331223">331223</a></td><td>Hyper IgE Syndrome (HIES)</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-357027">357027</a></td><td>Hereditary retinoblastoma</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-363700">363700</a></td><td>Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-404560">404560</a></td><td>Familial atypical multiple mole melanoma syndrome</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-423776">423776</a></td><td>Hereditary gastric cancer</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-443909">443909</a></td><td>Hereditary nonpolyposis colon cancer</td></tr><tr><td><a href="CodeSystem-OrphaNet.html#OrphaNet-458830">458830</a></td><td>Rare capillary malformation with associated anomalies</td></tr></table></li><li>Include these codes as defined in <a href="http://terminology.hl7.org/6.5.0/CodeSystem-v3-NullFlavor.html"><code>http://terminology.hl7.org/CodeSystem/v3-NullFlavor</code></a><span title="Version is not explicitly stated, which means it is fixed to 3.0.0, the version found through the package references"> version &#x1F4E6;3.0.0</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href="http://terminology.hl7.org/6.5.0/CodeSystem-v3-NullFlavor.html#v3-NullFlavor-OTH">OTH</a></td><td>Other</td><td>**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system).<br/><br/>**Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \*any\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc.<br/><br/>With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.</td></tr></table></li></ul></div>
      </text>
      <url
           value="http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp"/>
      <version value="1.0.0"/>
      <name value="OrphaHereditaryPredisposition"/>
      <title value="Hereditary Predispositions (Orphacode)"/>
      <status value="active"/>
      <experimental value="false"/>
      <date value="2025-10-16T12:02:24+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="Hereditary Predispositions (Orphacode)"/>
      <jurisdiction>
        <coding>
          <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
          <code value="150"/>
          <display value="Europe"/>
        </coding>
      </jurisdiction>
      <compose>
        <include>
          <system value="https://www.orpha.net"/>
          <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>
        </include>
        <include>
          <system value="http://terminology.hl7.org/CodeSystem/v3-NullFlavor"/>
          <concept>
            <code value="OTH"/>
            <display value="Other"/>
          </concept>
        </include>
      </compose>
    </ValueSet>