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) - JSON Representation

Active as of 2025-10-16

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