PanCareSurPass Project HL7 FHIR Implementation Guide
0.2.0 - CI Build 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 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

: OrphaNet - JSON Representation

Draft as of 2025-09-03

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{
  "resourceType" : "CodeSystem",
  "id" : "OrphaNet",
  "text" : {
    "status" : "generated",
    "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>"
  },
  "url" : "https://www.orpha.net",
  "version" : "0.2.0",
  "name" : "OrphaNet",
  "status" : "draft",
  "experimental" : false,
  "date" : "2025-09-03T05:39:31+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" : "Orphanet selected codes",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "150",
          "display" : "Europe"
        }
      ]
    }
  ],
  "caseSensitive" : true,
  "content" : "fragment",
  "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"
    }
  ]
}