FHIR © HL7.org  |  FHIRsmith 4.0.1  |  Server Home  |  XIG Home  |  XIG Stats  | 

FHIR IG analytics

Packagede.medizininformatikinitiative.kerndatensatz.onkologie
Resource TypeValueSet
IdValueSet-mii-vs-onko-praedispositionsgene-hgnc.json
FHIR VersionR4
Sourcehttps://medizininformatik-initiative.github.io/kerndatensatzmodul-onkologie/2027.0.0-ballot.1/ValueSet-mii-vs-onko-praedispositionsgene-hgnc.html
URLhttps://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-praedispositionsgene-hgnc
Version2027.0.0-ballot.1
Statusactive
Date2026-09-15T06:26:59+00:00
NameMII_VS_Onko_Praedispositionsgene_HGNC
TitleMII VS Onkologie Krebsprädispositionsgene HGNC
Realmde
DescriptionKrebsprädispositionsgene der §65c-Liste (Manual Plus, Krebsprädispositionssyndrom und -gen) als HGNC-Gen-IDs, inkl. Expansion der Sammel-Einträge (FANCA-FANCW, IDH1/2, XP-Komplementationsgruppen). Begleitartefakt ohne Profil-Binding (Andockung an die genetischen Profile folgt mit dem Konzept für genetische Marker). Zytogenetische Aberrationen der Quell-Liste (11p13/11p15, Trisomien, ETV-RUNX1-Fusion) sind keine Gene und hier nicht enthalten. Projektseitige Code-Auflösung ohne Gewähr; fachliche Prüfung vor Produktivnutzung erforderlich.

Resources that use this resource

No resources found


Resources that this resource uses

No resources found


Narrative

Note: links and images are rebased to the (stated) source


English


Generated Narrative: ValueSet mii-vs-onko-praedispositionsgene-hgnc


German


Generated Narrative: ValueSet mii-vs-onko-praedispositionsgene-hgnc


Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-onko-praedispositionsgene-hgnc",
  "meta": {
    "extension": [
      {
        "url": "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-license",
        "valueCode": "CC-BY-4.0"
      },
      {
        "extension": [
          {
            "url": "packageId",
            "valueId": "de.medizininformatikinitiative.kerndatensatz.onkologie"
          },
          {
            "url": "version",
            "valueString": "2027.0.0-ballot.1"
          },
          {
            "url": "uri",
            "valueUri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko"
          }
        ],
        "url": "http://hl7.org/fhir/StructureDefinition/package-source"
      }
    ],
    "profile": [
      "http://hl7.org/fhir/StructureDefinition/shareablevalueset",
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset",
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset",
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-computablevalueset"
    ]
  },
  "text": {
    "status": "extensions",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "shareable"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "publishable"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "computable"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes",
            "code": "package",
            "display": "Package"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
      "valueDate": "2026-09-15"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
            "code": "C3262"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-author",
      "valueContactDetail": {
        "telecom": [
          {
            "system": "email",
            "value": "thomas.debertshaeuser@charite.de"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-editor",
      "valueContactDetail": {
        "name": "Taskforce Core Data Set"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
      "valueContactDetail": {
        "name": "Interoperability Working Group",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "Interoperability Working Group",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
          }
        ]
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm",
      "valueCoding": {
        "system": "http://hl7.org/fhir/version-algorithm",
        "code": "semver",
        "display": "SemVer"
      }
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-effectivePeriod",
      "valuePeriod": {
        "start": "2027"
      }
    }
  ],
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-praedispositionsgene-hgnc",
  "version": "2027.0.0-ballot.1",
  "name": "MII_VS_Onko_Praedispositionsgene_HGNC",
  "title": "MII VS Onkologie Krebsprädispositionsgene HGNC",
  "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": "Krebsprädispositionsgene der §65c-Liste (Manual Plus, Krebsprädispositionssyndrom und -gen) als HGNC-Gen-IDs, inkl. Expansion der Sammel-Einträge (FANCA-FANCW, IDH1/2, XP-Komplementationsgruppen). Begleitartefakt ohne Profil-Binding (Andockung an die genetischen Profile folgt mit dem Konzept für genetische Marker). Zytogenetische Aberrationen der Quell-Liste (11p13/11p15, Trisomien, ETV-RUNX1-Fusion) sind keine Gene und hier nicht enthalten. 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.genenames.org/geneId",
        "concept": [
          {
            "code": "HGNC:427",
            "display": "ALK"
          },
          {
            "code": "HGNC:26837",
            "display": "AMER1"
          },
          {
            "code": "HGNC:583",
            "display": "APC"
          },
          {
            "code": "HGNC:18318",
            "display": "ASXL1"
          },
          {
            "code": "HGNC:795",
            "display": "ATM"
          },
          {
            "code": "HGNC:1058",
            "display": "BLM"
          },
          {
            "code": "HGNC:1076",
            "display": "BMPR1A"
          },
          {
            "code": "HGNC:1097",
            "display": "BRAF"
          },
          {
            "code": "HGNC:1100",
            "display": "BRCA1"
          },
          {
            "code": "HGNC:1101",
            "display": "BRCA2"
          },
          {
            "code": "HGNC:20473",
            "display": "BRIP1"
          },
          {
            "code": "HGNC:1149",
            "display": "BUB1B"
          },
          {
            "code": "HGNC:1541",
            "display": "CBL"
          },
          {
            "code": "HGNC:1833",
            "display": "CEBPA"
          },
          {
            "code": "HGNC:30794",
            "display": "CEP57"
          },
          {
            "code": "HGNC:16850",
            "display": "CTR9"
          },
          {
            "code": "HGNC:2718",
            "display": "DDB2"
          },
          {
            "code": "HGNC:17098",
            "display": "DICER1"
          },
          {
            "code": "HGNC:28648",
            "display": "DIS3L2"
          },
          {
            "code": "HGNC:2890",
            "display": "DKC1"
          },
          {
            "code": "HGNC:3309",
            "display": "ELANE"
          },
          {
            "code": "HGNC:5959",
            "display": "ELP1"
          },
          {
            "code": "HGNC:3374",
            "display": "EPAS1"
          },
          {
            "code": "HGNC:11529",
            "display": "EPCAM"
          },
          {
            "code": "HGNC:3433",
            "display": "ERCC1"
          },
          {
            "code": "HGNC:3434",
            "display": "ERCC2"
          },
          {
            "code": "HGNC:3435",
            "display": "ERCC3"
          },
          {
            "code": "HGNC:3436",
            "display": "ERCC4"
          },
          {
            "code": "HGNC:3437",
            "display": "ERCC5"
          },
          {
            "code": "HGNC:3495",
            "display": "ETV6"
          },
          {
            "code": "HGNC:3527",
            "display": "EZH2"
          },
          {
            "code": "HGNC:3582",
            "display": "FANCA"
          },
          {
            "code": "HGNC:3583",
            "display": "FANCB"
          },
          {
            "code": "HGNC:3584",
            "display": "FANCC"
          },
          {
            "code": "HGNC:3585",
            "display": "FANCD2"
          },
          {
            "code": "HGNC:3586",
            "display": "FANCE"
          },
          {
            "code": "HGNC:3587",
            "display": "FANCF"
          },
          {
            "code": "HGNC:3588",
            "display": "FANCG"
          },
          {
            "code": "HGNC:25568",
            "display": "FANCI"
          },
          {
            "code": "HGNC:20748",
            "display": "FANCL"
          },
          {
            "code": "HGNC:23168",
            "display": "FANCM"
          },
          {
            "code": "HGNC:4451",
            "display": "GPC3"
          },
          {
            "code": "HGNC:23694",
            "display": "GPR161"
          },
          {
            "code": "HGNC:5173",
            "display": "HRAS"
          },
          {
            "code": "HGNC:5382",
            "display": "IDH1"
          },
          {
            "code": "HGNC:5383",
            "display": "IDH2"
          },
          {
            "code": "HGNC:13176",
            "display": "IKZF1"
          },
          {
            "code": "HGNC:6407",
            "display": "KRAS"
          },
          {
            "code": "HGNC:6764",
            "display": "MAD2L2"
          },
          {
            "code": "HGNC:6913",
            "display": "MAX"
          },
          {
            "code": "HGNC:7010",
            "display": "MEN1"
          },
          {
            "code": "HGNC:7127",
            "display": "MLH1"
          },
          {
            "code": "HGNC:7325",
            "display": "MSH2"
          },
          {
            "code": "HGNC:7329",
            "display": "MSH6"
          },
          {
            "code": "HGNC:7652",
            "display": "NBN"
          },
          {
            "code": "HGNC:7765",
            "display": "NF1"
          },
          {
            "code": "HGNC:7989",
            "display": "NRAS"
          },
          {
            "code": "HGNC:14234",
            "display": "NSD1"
          },
          {
            "code": "HGNC:26144",
            "display": "PALB2"
          },
          {
            "code": "HGNC:8619",
            "display": "PAX5"
          },
          {
            "code": "HGNC:9143",
            "display": "PHOX2B"
          },
          {
            "code": "HGNC:8975",
            "display": "PIK3CA"
          },
          {
            "code": "HGNC:9122",
            "display": "PMS2"
          },
          {
            "code": "HGNC:9181",
            "display": "POLH"
          },
          {
            "code": "HGNC:9585",
            "display": "PTCH1"
          },
          {
            "code": "HGNC:9588",
            "display": "PTEN"
          },
          {
            "code": "HGNC:9644",
            "display": "PTPN11"
          },
          {
            "code": "HGNC:9817",
            "display": "RAD51"
          },
          {
            "code": "HGNC:9820",
            "display": "RAD51C"
          },
          {
            "code": "HGNC:9884",
            "display": "RB1"
          },
          {
            "code": "HGNC:9949",
            "display": "RECQL4"
          },
          {
            "code": "HGNC:9966",
            "display": "REST"
          },
          {
            "code": "HGNC:9967",
            "display": "RET"
          },
          {
            "code": "HGNC:25539",
            "display": "RFWD3"
          },
          {
            "code": "HGNC:10402",
            "display": "RPS19"
          },
          {
            "code": "HGNC:15888",
            "display": "RTEL1"
          },
          {
            "code": "HGNC:10471",
            "display": "RUNX1"
          },
          {
            "code": "HGNC:1348",
            "display": "SAMD9"
          },
          {
            "code": "HGNC:1349",
            "display": "SAMD9L"
          },
          {
            "code": "HGNC:10680",
            "display": "SDHA"
          },
          {
            "code": "HGNC:26034",
            "display": "SDHAF2"
          },
          {
            "code": "HGNC:10681",
            "display": "SDHB"
          },
          {
            "code": "HGNC:10682",
            "display": "SDHC"
          },
          {
            "code": "HGNC:10683",
            "display": "SDHD"
          },
          {
            "code": "HGNC:23845",
            "display": "SLX4"
          },
          {
            "code": "HGNC:6770",
            "display": "SMAD4"
          },
          {
            "code": "HGNC:11100",
            "display": "SMARCA4"
          },
          {
            "code": "HGNC:11103",
            "display": "SMARCB1"
          },
          {
            "code": "HGNC:11119",
            "display": "SMO"
          },
          {
            "code": "HGNC:11187",
            "display": "SOS1"
          },
          {
            "code": "HGNC:11389",
            "display": "STK11"
          },
          {
            "code": "HGNC:16466",
            "display": "SUFU"
          },
          {
            "code": "HGNC:11633",
            "display": "TCF3"
          },
          {
            "code": "HGNC:11727",
            "display": "TERC"
          },
          {
            "code": "HGNC:11730",
            "display": "TERT"
          },
          {
            "code": "HGNC:11824",
            "display": "TINF2"
          },
          {
            "code": "HGNC:26038",
            "display": "TMEM127"
          },
          {
            "code": "HGNC:11998",
            "display": "TP53"
          },
          {
            "code": "HGNC:16384",
            "display": "TRIM28"
          },
          {
            "code": "HGNC:7523",
            "display": "TRIM37"
          },
          {
            "code": "HGNC:12307",
            "display": "TRIP13"
          },
          {
            "code": "HGNC:12362",
            "display": "TSC1"
          },
          {
            "code": "HGNC:12363",
            "display": "TSC2"
          },
          {
            "code": "HGNC:25009",
            "display": "UBE2T"
          },
          {
            "code": "HGNC:12687",
            "display": "VHL"
          },
          {
            "code": "HGNC:12796",
            "display": "WT1"
          },
          {
            "code": "HGNC:12814",
            "display": "XPA"
          },
          {
            "code": "HGNC:12816",
            "display": "XPC"
          },
          {
            "code": "HGNC:12829",
            "display": "XRCC2"
          }
        ]
      }
    ]
  }
}