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Source1

{
  "resourceType": "CodeSystem",
  "id": "OrphaNet",
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "url": "https://www.orpha.net",
  "version": "1.0.0",
  "name": "OrphaNet",
  "status": "active",
  "experimental": false,
  "date": "2026-01-16T12:01:48+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"
    }
  ]
}