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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-genetic-basis",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset",
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"
    ]
  },
  "text": {
    "status": "generated",
    "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": "2026-09-02"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
      "valueCodeableConcept": {
        "coding": [
          {
            "system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
            "code": "C4873"
          }
        ]
      }
    },
    {
      "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": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-genetic-basis",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_GeneticBasis",
  "title": "MII VS SE Genetic Basis (retired)",
  "status": "retired",
  "experimental": false,
  "date": "2026-09-14T21:59:44+00:00",
  "publisher": "Medizininformatik Initiative",
  "_publisher": {
    "extension": [
      {
        "extension": [
          {
            "url": "lang",
            "valueCode": "de"
          },
          {
            "url": "content",
            "valueString": "Medizininformatik Initiative"
          }
        ],
        "url": "http://hl7.org/fhir/StructureDefinition/translation"
      }
    ]
  },
  "contact": [
    {
      "name": "Medizininformatik Initiative",
      "telecom": [
        {
          "system": "url",
          "value": "https://www.medizininformatik-initiative.de/"
        }
      ]
    }
  ],
  "description": "RETIRED. Nicht verwenden. Acht der neun enthaltenen SNOMED-Codes bezeichnen etwas anderes als ihr Display behauptet oder existieren nicht; das ValueSet muss neu erstellt werden.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://snomed.info/sct",
        "concept": [
          {
            "code": "409709004",
            "display": "Chromosomal disorder"
          },
          {
            "code": "264530000",
            "display": "Single gene disorder"
          },
          {
            "code": "16402000",
            "display": "Mitochondrial disorder"
          },
          {
            "code": "268298002",
            "display": "Polygenic disorder"
          },
          {
            "code": "429962007",
            "display": "Disorder due to copy number variation"
          },
          {
            "code": "718211000119104",
            "display": "Disorder due to trinucleotide repeat expansion"
          },
          {
            "code": "416010008",
            "display": "Disorder due to uniparental disomy"
          },
          {
            "code": "429252008",
            "display": "Disorder due to genomic imprinting"
          },
          {
            "code": "363235000",
            "display": "Multifactorial disorder"
          }
        ]
      }
    ]
  }
}