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Source1

{
  "resourceType": "ValueSet",
  "id": "mii-vs-seltene-penetrance",
  "meta": {
    "profile": [
      "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset",
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    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "extension": [
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      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "shareable"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
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    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
      "valueCode": "computable"
    },
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            "display": "Package"
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    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
      "valueDate": "2026-09-02"
    },
    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
      "valueCodeableConcept": {
        "coding": [
          {
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            "code": "C4873"
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    {
      "url": "http://hl7.org/fhir/StructureDefinition/artifact-author",
      "valueContactDetail": {
        "telecom": [
          {
            "system": "email",
            "value": "thomas.debertshaeuser@charite.de"
          }
        ]
      }
    },
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      "valueContactDetail": {
        "name": "Taskforce Core Data Set"
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    },
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      "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"
          }
        ]
      }
    },
    {
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      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
          {
            "system": "url",
            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
          }
        ]
      }
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    {
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      "valueContactDetail": {
        "name": "Interoperability Working Group",
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      "valueContactDetail": {
        "name": "National Steering Committee",
        "telecom": [
          {
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            "value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
          }
        ]
      }
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  ],
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-penetrance",
  "version": "2027.0.0-ballot",
  "name": "MII_VS_Seltene_Penetrance",
  "title": "MII VS SE Penetrance",
  "status": "active",
  "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": "Value set for qualitative descriptions of genetic penetrance, drawn from the HPO branch Inheritance qualifier (HP:0034335). Note that the graded terms (high/moderate/low penetrance) are subtypes of incomplete penetrance, not alternatives to complete penetrance.",
  "jurisdiction": [
    {
      "coding": [
        {
          "system": "urn:iso:std:iso:3166",
          "code": "DE",
          "display": "Germany"
        }
      ]
    }
  ],
  "compose": {
    "include": [
      {
        "system": "http://human-phenotype-ontology.org",
        "concept": [
          {
            "code": "HP:0034950",
            "display": "Typified by complete penetrance"
          },
          {
            "code": "HP:0003829",
            "display": "Typified by incomplete penetrance"
          },
          {
            "code": "HP:4000158",
            "display": "Typified by high penetrance"
          },
          {
            "code": "HP:4000159",
            "display": "Typified by moderate penetrance"
          },
          {
            "code": "HP:4000160",
            "display": "Typified by low penetrance"
          },
          {
            "code": "HP:0003831",
            "display": "Typified by age-related disease onset"
          }
        ]
      }
    ]
  }
}