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

## : OrphaNet - 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:CodeSystem ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "OrphaNet"] ; #
      fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div "<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>"^^rdf:XMLLiteral
      ] ; #
      fhir:url [ fhir:v "https://www.orpha.net"^^xsd:anyURI] ; #
      fhir:version [ fhir:v "1.0.0"] ; #
      fhir:name [ fhir:v "OrphaNet"] ; #
      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 "Orphanet selected codes"] ; #
      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:caseSensitive [ fhir:v true] ; #
      fhir:content [ fhir:v "fragment"] ; #
      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" ]
      ] ) . #