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) - TTL Representation

Active as of 2025-10-16

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    @prefix fhir: <http://hl7.org/fhir/> .
    @prefix owl: <http://www.w3.org/2002/07/owl#> .
    @prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
    @prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
    @prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

    # - resource -------------------------------------------------------------------

     a fhir:ValueSet ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "vs-orpha-predisposition-eu-pcsp"] ; #
      fhir:text [
    fhir:status [ fhir:v "extensions" ] ;
    fhir:div "<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 ?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 ?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>"^^rdf:XMLLiteral
      ] ; #
      fhir:url [ fhir:v "http://hl7.eu/fhir/ig/pcsp/ValueSet/vs-orpha-predisposition-eu-pcsp"^^xsd:anyURI] ; #
      fhir:version [ fhir:v "1.0.0"] ; #
      fhir:name [ fhir:v "OrphaHereditaryPredisposition"] ; #
      fhir:title [ fhir:v "Hereditary Predispositions (Orphacode)"] ; #
      fhir:status [ fhir:v "active"] ; #
      fhir:experimental [ fhir:v false] ; #
      fhir:date [ fhir:v "2025-10-16T12:02:24+00:00"^^xsd:dateTime] ; #
      fhir:publisher [ fhir:v "PanCareSurPass Project"] ; #
      fhir:contact ( [
    fhir:name [ fhir:v "PanCareSurPass Project" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "https://www.pancaresurpass.eu/" ]     ] )
      ] [
    fhir:name [ fhir:v "PanCareSurPass Project" ] ;
        ( fhir:telecom [
    fhir:system [ fhir:v "url" ] ;
    fhir:value [ fhir:v "https://www.pancaresurpass.eu/" ]     ] )
      ] ) ; #
      fhir:description [ fhir:v "Hereditary Predispositions (Orphacode)"] ; #
      fhir:jurisdiction ( [
        ( fhir:coding [
    fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
    fhir:code [ fhir:v "150" ] ;
    fhir:display [ fhir:v "Europe" ]     ] )
      ] ) ; #
      fhir:compose [
        ( fhir:include [
    fhir:system [ fhir:v "https://www.orpha.net"^^xsd:anyURI ] ;
          ( fhir:concept [
    fhir:code [ fhir:v "84" ] ;
    fhir:display [ fhir:v "Fanconi anemia" ]       ] [
    fhir:code [ fhir:v "100" ] ;
    fhir:display [ fhir:v "Ataxia telangiectasia" ]       ] [
    fhir:code [ fhir:v "109" ] ;
    fhir:display [ fhir:v "Bannayan-Riley-Ruvalcaba syndrome" ]       ] [
    fhir:code [ fhir:v "116" ] ;
    fhir:display [ fhir:v "Beckwith-Wiedemann syndrome" ]       ] [
    fhir:code [ fhir:v "122" ] ;
    fhir:display [ fhir:v "Birt-Hogg-Dube´ syndrome" ]       ] [
    fhir:code [ fhir:v "125" ] ;
    fhir:display [ fhir:v "Bloom syndrome" ]       ] [
    fhir:code [ fhir:v "144" ] ;
    fhir:display [ fhir:v "Lynch  Syndrome" ]       ] [
    fhir:code [ fhir:v "145" ] ;
    fhir:display [ fhir:v "Hereditary breast and ovarian cancer syndrome" ]       ] [
    fhir:code [ fhir:v "201" ] ;
    fhir:display [ fhir:v "Cowden Syndrome" ]       ] [
    fhir:code [ fhir:v "321" ] ;
    fhir:display [ fhir:v "Multiple osteochondromas" ]       ] [
    fhir:code [ fhir:v "347" ] ;
    fhir:display [ fhir:v "Frasier syndrome" ]       ] [
    fhir:code [ fhir:v "373" ] ;
    fhir:display [ fhir:v "Simpson-Golabi-Behmel syndrome" ]       ] [
    fhir:code [ fhir:v "377" ] ;
    fhir:display [ fhir:v "Gorlin syndrome" ]       ] [
    fhir:code [ fhir:v "500" ] ;
    fhir:display [ fhir:v "LEOPARD syndrome" ]       ] [
    fhir:code [ fhir:v "523" ] ;
    fhir:display [ fhir:v "Hereditary leiomyomatosis and renal cell cancer" ]       ] [
    fhir:code [ fhir:v "524" ] ;
    fhir:display [ fhir:v "Li-Fraumeni Syndrome" ]       ] [
    fhir:code [ fhir:v "587" ] ;
    fhir:display [ fhir:v "Muir Torre syndrome" ]       ] [
    fhir:code [ fhir:v "618" ] ;
    fhir:display [ fhir:v "Familial Melanoma" ]       ] [
    fhir:code [ fhir:v "637" ] ;
    fhir:display [ fhir:v "Neurofibromatosis type 2" ]       ] [
    fhir:code [ fhir:v "647" ] ;
    fhir:display [ fhir:v "Nijmegen breakage syndrome" ]       ] [
    fhir:code [ fhir:v "648" ] ;
    fhir:display [ fhir:v "Noonan syndrome" ]       ] [
    fhir:code [ fhir:v "652" ] ;
    fhir:display [ fhir:v "Multiple endocrine neoplasia type 1" ]       ] [
    fhir:code [ fhir:v "653" ] ;
    fhir:display [ fhir:v "Multiple endocrine neoplasia type 2" ]       ] [
    fhir:code [ fhir:v "654" ] ;
    fhir:display [ fhir:v "Nephroblastoma" ]       ] [
    fhir:code [ fhir:v "660" ] ;
    fhir:display [ fhir:v "Omphalocele" ]       ] [
    fhir:code [ fhir:v "676" ] ;
    fhir:display [ fhir:v "Hereditary chronic pancreatitis" ]       ] [
    fhir:code [ fhir:v "733" ] ;
    fhir:display [ fhir:v "Familial adenomatous polyposis" ]       ] [
    fhir:code [ fhir:v "744" ] ;
    fhir:display [ fhir:v "Proteus syndrome" ]       ] [
    fhir:code [ fhir:v "805" ] ;
    fhir:display [ fhir:v "Tuberous sclerosis complex" ]       ] [
    fhir:code [ fhir:v "811" ] ;
    fhir:display [ fhir:v "Shwachman-Diamond syndrome" ]       ] [
    fhir:code [ fhir:v "821" ] ;
    fhir:display [ fhir:v "Sotos syndrome" ]       ] [
    fhir:code [ fhir:v "870" ] ;
    fhir:display [ fhir:v "Down syndrome" ]       ] [
    fhir:code [ fhir:v "881" ] ;
    fhir:display [ fhir:v "Turner syndrome" ]       ] [
    fhir:code [ fhir:v "892" ] ;
    fhir:display [ fhir:v "von Hippel-Lindau syndrome" ]       ] [
    fhir:code [ fhir:v "893" ] ;
    fhir:display [ fhir:v "WAGR syndrome" ]       ] [
    fhir:code [ fhir:v "902" ] ;
    fhir:display [ fhir:v "Werner syndrome" ]       ] [
    fhir:code [ fhir:v "906" ] ;
    fhir:display [ fhir:v "Wiskott-Aldrich syndrome" ]       ] [
    fhir:code [ fhir:v "910" ] ;
    fhir:display [ fhir:v "Xeroderma pigmentosum" ]       ] [
    fhir:code [ fhir:v "1331" ] ;
    fhir:display [ fhir:v "Familial prostate cancer" ]       ] [
    fhir:code [ fhir:v "1340" ] ;
    fhir:display [ fhir:v "Cardio-Facio-Cutaneous (CFC) syndrome" ]       ] [
    fhir:code [ fhir:v "1359" ] ;
    fhir:display [ fhir:v "Carney Complex" ]       ] [
    fhir:code [ fhir:v "1572" ] ;
    fhir:display [ fhir:v "Common variable immune deficiency" ]       ] [
    fhir:code [ fhir:v "1915" ] ;
    fhir:display [ fhir:v "Fetal alcohol syndrome" ]       ] [
    fhir:code [ fhir:v "2128" ] ;
    fhir:display [ fhir:v "Isolated Hemihypertrophy" ]       ] [
    fhir:code [ fhir:v "2346" ] ;
    fhir:display [ fhir:v "Angioosteohypertrophic syndrome" ]       ] [
    fhir:code [ fhir:v "2442" ] ;
    fhir:display [ fhir:v "X-linked lymphoproliferative syndrome" ]       ] [
    fhir:code [ fhir:v "2678" ] ;
    fhir:display [ fhir:v "Neurofibromatosis type 6" ]       ] [
    fhir:code [ fhir:v "2869" ] ;
    fhir:display [ fhir:v "Peutz-Jeghers syndrome" ]       ] [
    fhir:code [ fhir:v "2909" ] ;
    fhir:display [ fhir:v "Rothmund Thomson syndrome" ]       ] [
    fhir:code [ fhir:v "2929" ] ;
    fhir:display [ fhir:v "Juvenile polyposis syndrome" ]       ] [
    fhir:code [ fhir:v "3261" ] ;
    fhir:display [ fhir:v "Autoimmune lymphoproliferative syndrome" ]       ] [
    fhir:code [ fhir:v "26106" ] ;
    fhir:display [ fhir:v "Hereditary diffuse gastric cancer" ]       ] [
    fhir:code [ fhir:v "29072" ] ;
    fhir:display [ fhir:v "Hereditary pheochromocytoma-paraganglioma" ]       ] [
    fhir:code [ fhir:v "44890" ] ;
    fhir:display [ fhir:v "Gastrointestinal stromal tumor" ]       ] [
    fhir:code [ fhir:v "47044" ] ;
    fhir:display [ fhir:v "Hereditary papillary renal cancer syndrome" ]       ] [
    fhir:code [ fhir:v "77828" ] ;
    fhir:display [ fhir:v "Genetic obesity" ]       ] [
    fhir:code [ fhir:v "93460" ] ;
    fhir:display [ fhir:v "Overgrowth syndrome" ]       ] [
    fhir:code [ fhir:v "97286" ] ;
    fhir:display [ fhir:v "Carney-Stratakis Syndrome" ]       ] [
    fhir:code [ fhir:v "99817" ] ;
    fhir:display [ fhir:v "Non-polyposis Turcot syndrome" ]       ] [
    fhir:code [ fhir:v "99818" ] ;
    fhir:display [ fhir:v "Turcot Syndrome with polyposis" ]       ] [
    fhir:code [ fhir:v "101088" ] ;
    fhir:display [ fhir:v "X-linked hyper-IgM syndrome" ]       ] [
    fhir:code [ fhir:v "141145" ] ;
    fhir:display [ fhir:v "Hemifacial hyperplasia" ]       ] [
    fhir:code [ fhir:v "156207" ] ;
    fhir:display [ fhir:v "Macroglossia" ]       ] [
    fhir:code [ fhir:v "220460" ] ;
    fhir:display [ fhir:v "Attenuated familial adenomatous polyposis" ]       ] [
    fhir:code [ fhir:v "231040" ] ;
    fhir:display [ fhir:v "Noonan syndrome with multiple lentigines" ]       ] [
    fhir:code [ fhir:v "231108" ] ;
    fhir:display [ fhir:v "Familial rhabdoid tumor" ]       ] [
    fhir:code [ fhir:v "251347" ] ;
    fhir:display [ fhir:v "Ataxia-telangiectasia-like disorder" ]       ] [
    fhir:code [ fhir:v "295049" ] ;
    fhir:display [ fhir:v "Upper limb Hypertrophy" ]       ] [
    fhir:code [ fhir:v "295051" ] ;
    fhir:display [ fhir:v "Lower limb hypertrophy" ]       ] [
    fhir:code [ fhir:v "319487" ] ;
    fhir:display [ fhir:v "Familial follicular or papillary thyroid cancer" ]       ] [
    fhir:code [ fhir:v "331223" ] ;
    fhir:display [ fhir:v "Hyper IgE Syndrome (HIES)" ]       ] [
    fhir:code [ fhir:v "357027" ] ;
    fhir:display [ fhir:v "Hereditary retinoblastoma" ]       ] [
    fhir:code [ fhir:v "363700" ] ;
    fhir:display [ fhir:v "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion" ]       ] [
    fhir:code [ fhir:v "404560" ] ;
    fhir:display [ fhir:v "Familial atypical multiple mole melanoma syndrome" ]       ] [
    fhir:code [ fhir:v "423776" ] ;
    fhir:display [ fhir:v "Hereditary gastric cancer" ]       ] [
    fhir:code [ fhir:v "443909" ] ;
    fhir:display [ fhir:v "Hereditary nonpolyposis colon cancer" ]       ] [
    fhir:code [ fhir:v "458830" ] ;
    fhir:display [ fhir:v "Rare capillary malformation with associated anomalies" ]       ] )     ] [
    fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v3-NullFlavor"^^xsd:anyURI ] ;
          ( fhir:concept [
    fhir:code [ fhir:v "OTH" ] ;
    fhir:display [ fhir:v "Other" ]       ] )     ] )
      ] . #