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Source1

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  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
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    {
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        "display": "SemVer"
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      "valuePeriod": {
        "start": "2027"
      }
    }
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  "version": "2027.0.0-ballot.1",
  "name": "MII_VS_Onko_Praedispositionssyndrome_ORPHA",
  "title": "MII VS Onkologie Krebsprädispositionssyndrome ORPHA",
  "status": "active",
  "experimental": false,
  "date": "2026-09-15T06:26:59+00:00",
  "publisher": "Medizininformatik Initiative",
  "contact": [
    {
      "name": "Medizininformatik Initiative",
      "telecom": [
        {
          "system": "url",
          "value": "https://www.medizininformatik-initiative.de/"
        }
      ]
    }
  ],
  "description": "Krebsprädispositionssyndrome der §65c-Liste (Manual Plus, Krebsprädispositionssyndrom und -gen) als Orphanet-Codes. Begleitartefakt ohne Profil-Binding (Andockung an die genetischen Profile folgt mit dem Konzept für genetische Marker); 15 genspezifische Prädispositionen der Quell-Liste haben kein Orphanet-Konzept und sind über das Gen-ValueSet mii-vs-onko-praedispositionsgene-hgnc adressierbar. Projektseitige Code-Auflösung ohne Gewähr; fachliche Prüfung vor Produktivnutzung erforderlich.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://www.orpha.net",
        "concept": [
          {
            "code": "100",
            "display": "Ataxia-telangiectasia"
          },
          {
            "code": "116",
            "display": "Beckwith-Wiedemann syndrome"
          },
          {
            "code": "125",
            "display": "Bloom syndrome"
          },
          {
            "code": "97297",
            "display": "Bohring-Opitz syndrome"
          },
          {
            "code": "363972",
            "display": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"
          },
          {
            "code": "319465",
            "display": "Inherited acute myeloid leukemia"
          },
          {
            "code": "626",
            "display": "Large/giant congenital melanocytic nevus"
          },
          {
            "code": "252202",
            "display": "Constitutional mismatch repair deficiency syndrome"
          },
          {
            "code": "3071",
            "display": "Costello syndrome"
          },
          {
            "code": "1553",
            "display": "Curry-Jones syndrome"
          },
          {
            "code": "124",
            "display": "Diamond-Blackfan anemia"
          },
          {
            "code": "284343",
            "display": "DICER1 tumor-predisposition syndrome"
          },
          {
            "code": "870",
            "display": "Down syndrome"
          },
          {
            "code": "733",
            "display": "Familial adenomatous polyposis"
          },
          {
            "code": "84",
            "display": "Fanconi anemia"
          },
          {
            "code": "404476",
            "display": "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"
          },
          {
            "code": "377",
            "display": "Gorlin syndrome"
          },
          {
            "code": "29072",
            "display": "Hereditary pheochromocytoma-paraganglioma"
          },
          {
            "code": "357027",
            "display": "Hereditary retinoblastoma"
          },
          {
            "code": "2929",
            "display": "Juvenile polyposis syndrome"
          },
          {
            "code": "524",
            "display": "Li-Fraumeni syndrome"
          },
          {
            "code": "144",
            "display": "Lynch syndrome"
          },
          {
            "code": "634461",
            "display": "Mosaic neurofibromatosis type 1"
          },
          {
            "code": "1052",
            "display": "Mosaic variegated aneuploidy syndrome"
          },
          {
            "code": "2576",
            "display": "Mulibrey nanism"
          },
          {
            "code": "652",
            "display": "Multiple endocrine neoplasia type 1"
          },
          {
            "code": "247698",
            "display": "Multiple endocrine neoplasia type 2A"
          },
          {
            "code": "247709",
            "display": "Multiple endocrine neoplasia type 2B"
          },
          {
            "code": "636",
            "display": "Neurofibromatosis type 1"
          },
          {
            "code": "647",
            "display": "Nijmegen breakage syndrome"
          },
          {
            "code": "648",
            "display": "Noonan syndrome"
          },
          {
            "code": "296",
            "display": "Ollier disease"
          },
          {
            "code": "163634",
            "display": "Maffucci syndrome"
          },
          {
            "code": "2780",
            "display": "Osteopathia striata-cranial sclerosis syndrome"
          },
          {
            "code": "324299",
            "display": "Multiple paragangliomas associated with polycythemia"
          },
          {
            "code": "2849",
            "display": "Perlman syndrome"
          },
          {
            "code": "2869",
            "display": "Peutz-Jeghers syndrome"
          },
          {
            "code": "661",
            "display": "Congenital central hypoventilation syndrome"
          },
          {
            "code": "530313",
            "display": "PIK3CA-related overgrowth syndrome"
          },
          {
            "code": "306498",
            "display": "PTEN hamartoma tumor syndrome"
          },
          {
            "code": "231108",
            "display": "Rhabdoid tumor predisposition syndrome"
          },
          {
            "code": "2909",
            "display": "Rothmund-Thomson syndrome"
          },
          {
            "code": "71290",
            "display": "Familial platelet disorder with associated myeloid malignancy"
          },
          {
            "code": "494433",
            "display": "MIRAGE syndrome"
          },
          {
            "code": "2585",
            "display": "Ataxia-pancytopenia syndrome"
          },
          {
            "code": "42738",
            "display": "Severe congenital neutropenia"
          },
          {
            "code": "373",
            "display": "Simpson-Golabi-Behmel syndrome"
          },
          {
            "code": "821",
            "display": "Sotos syndrome"
          },
          {
            "code": "1775",
            "display": "Dyskeratosis congenita"
          },
          {
            "code": "3380",
            "display": "Trisomy 18 syndrome"
          },
          {
            "code": "805",
            "display": "Tuberous sclerosis complex"
          },
          {
            "code": "892",
            "display": "Von Hippel-Lindau disease"
          },
          {
            "code": "893",
            "display": "WAGR syndrome"
          },
          {
            "code": "3447",
            "display": "Weaver syndrome"
          },
          {
            "code": "910",
            "display": "Xeroderma pigmentosum"
          }
        ]
      }
    ]
  }
}