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

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: Hereditary Predispositions (Orphacode) - XML Representation

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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><a name="vs-orpha-predisposition-eu-pcsp-en-US"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <code>https://www.orpha.net</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>84</td><td>Fanconi anemia</td></tr><tr><td>100</td><td>Ataxia telangiectasia</td></tr><tr><td>109</td><td>Bannayan-Riley-Ruvalcaba syndrome</td></tr><tr><td>116</td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td>122</td><td>Birt-Hogg-Dube´ syndrome</td></tr><tr><td>125</td><td>Bloom syndrome</td></tr><tr><td>144</td><td>Lynch  Syndrome</td></tr><tr><td>145</td><td>Hereditary breast and ovarian cancer syndrome</td></tr><tr><td>201</td><td>Cowden Syndrome</td></tr><tr><td>321</td><td>Multiple osteochondromas</td></tr><tr><td>347</td><td>Frasier syndrome</td></tr><tr><td>373</td><td>Simpson-Golabi-Behmel syndrome</td></tr><tr><td>377</td><td>Gorlin syndrome</td></tr><tr><td>500</td><td>LEOPARD syndrome</td></tr><tr><td>523</td><td>Hereditary leiomyomatosis and renal cell cancer</td></tr><tr><td>524</td><td>Li-Fraumeni Syndrome</td></tr><tr><td>587</td><td>Muir Torre syndrome</td></tr><tr><td>618</td><td>Familial Melanoma</td></tr><tr><td>637</td><td>Neurofibromatosis type 2</td></tr><tr><td>647</td><td>Nijmegen breakage syndrome</td></tr><tr><td>648</td><td>Noonan syndrome</td></tr><tr><td>652</td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td>653</td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td>654</td><td>Nephroblastoma</td></tr><tr><td>660</td><td>Omphalocele</td></tr><tr><td>676</td><td>Hereditary chronic pancreatitis</td></tr><tr><td>733</td><td>Familial adenomatous polyposis</td></tr><tr><td>744</td><td>Proteus syndrome</td></tr><tr><td>805</td><td>Tuberous sclerosis complex</td></tr><tr><td>811</td><td>Shwachman-Diamond syndrome</td></tr><tr><td>821</td><td>Sotos syndrome</td></tr><tr><td>870</td><td>Down syndrome</td></tr><tr><td>881</td><td>Turner syndrome</td></tr><tr><td>892</td><td>von Hippel-Lindau syndrome</td></tr><tr><td>893</td><td>WAGR syndrome</td></tr><tr><td>902</td><td>Werner syndrome</td></tr><tr><td>906</td><td>Wiskott-Aldrich syndrome</td></tr><tr><td>910</td><td>Xeroderma pigmentosum</td></tr><tr><td>1331</td><td>Familial prostate cancer</td></tr><tr><td>1340</td><td>Cardio-Facio-Cutaneous (CFC) syndrome</td></tr><tr><td>1359</td><td>Carney Complex</td></tr><tr><td>1572</td><td>Common variable immune deficiency</td></tr><tr><td>1915</td><td>Fetal alcohol syndrome</td></tr><tr><td>2128</td><td>Isolated Hemihypertrophy</td></tr><tr><td>2346</td><td>Angioosteohypertrophic syndrome</td></tr><tr><td>2442</td><td>X-linked lymphoproliferative syndrome</td></tr><tr><td>2678</td><td>Neurofibromatosis type 6</td></tr><tr><td>2869</td><td>Peutz-Jeghers syndrome</td></tr><tr><td>2909</td><td>Rothmund Thomson syndrome</td></tr><tr><td>2929</td><td>Juvenile polyposis syndrome</td></tr><tr><td>3261</td><td>Autoimmune lymphoproliferative syndrome</td></tr><tr><td>26106</td><td>Hereditary diffuse gastric cancer</td></tr><tr><td>29072</td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td>44890</td><td>Gastrointestinal stromal tumor</td></tr><tr><td>47044</td><td>Hereditary papillary renal cancer syndrome</td></tr><tr><td>77828</td><td>Genetic obesity</td></tr><tr><td>93460</td><td>Overgrowth syndrome</td></tr><tr><td>97286</td><td>Carney-Stratakis Syndrome</td></tr><tr><td>99817</td><td>Non-polyposis Turcot syndrome</td></tr><tr><td>99818</td><td>Turcot Syndrome with polyposis</td></tr><tr><td>101088</td><td>X-linked hyper-IgM syndrome</td></tr><tr><td>141145</td><td>Hemifacial hyperplasia</td></tr><tr><td>156207</td><td>Macroglossia</td></tr><tr><td>220460</td><td>Attenuated familial adenomatous polyposis</td></tr><tr><td>231040</td><td>Noonan syndrome with multiple lentigines</td></tr><tr><td>231108</td><td>Familial rhabdoid tumor</td></tr><tr><td>251347</td><td>Ataxia-telangiectasia-like disorder</td></tr><tr><td>295049</td><td>Upper limb Hypertrophy</td></tr><tr><td>295051</td><td>Lower limb hypertrophy</td></tr><tr><td>319487</td><td>Familial follicular or papillary thyroid cancer</td></tr><tr><td>331223</td><td>Hyper IgE Syndrome (HIES)</td></tr><tr><td>357027</td><td>Hereditary retinoblastoma</td></tr><tr><td>363700</td><td>Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</td></tr><tr><td>404560</td><td>Familial atypical multiple mole melanoma syndrome</td></tr><tr><td>423776</td><td>Hereditary gastric cancer</td></tr><tr><td>443909</td><td>Hereditary nonpolyposis colon cancer</td></tr><tr><td>458830</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/6.0.2/CodeSystem-v3-NullFlavor.html"><code>http://terminology.hl7.org/CodeSystem/v3-NullFlavor</code></a><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/6.0.2/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="0.2.0"/>
  <name value="OrphaHereditaryPredisposition"/>
  <title value="Hereditary Predispositions (Orphacode)"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2024-09-11T13:25:13+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>