# OrphaNet - PanCareSurPass Project HL7 FHIR Implementation Guide v1.0.0

* [**Table of Contents**](toc.md)
* [**Artifacts Summary**](artifacts.md)
* **OrphaNet**

## CodeSystem: OrphaNet 

| | |
| :--- | :--- |
| *Official URL*:https://www.orpha.net | *Version*:1.0.0 |
| Active as of 2025-10-16 | *Computable Name*:OrphaNet |

 
Orphanet selected codes 

 This Code system is referenced in the content logical definition of the following value sets: 

* [OrphaHereditaryPredisposition](ValueSet-vs-orpha-predisposition-eu-pcsp.md)

This case-sensitive code system `https://www.orpha.net` provides **a fragment** that includes following codes:



## Resource Content

```json
{
  "resourceType" : "CodeSystem",
  "id" : "OrphaNet",
  "url" : "https://www.orpha.net",
  "version" : "1.0.0",
  "name" : "OrphaNet",
  "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" : "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"
    }
  ]
}

```
