{
  "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" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: ValueSet mii-vs-seltene-genetic-basis</b></p><a name=\"mii-vs-seltene-genetic-basis\"> </a><a name=\"hcmii-vs-seltene-genetic-basis\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-shareablevalueset.html\">CRMI Shareable ValueSet</a>, <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-publishablevalueset.html\">CRMI Publishable ValueSet</a></p></div><ul><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://snomed.info/id/409709004\">409709004</a></td><td>Chromosomal disorder</td></tr><tr><td><a href=\"http://snomed.info/id/264530000\">264530000</a></td><td>Single gene disorder</td></tr><tr><td><a href=\"http://snomed.info/id/16402000\">16402000</a></td><td>Mitochondrial disorder</td></tr><tr><td><a href=\"http://snomed.info/id/268298002\">268298002</a></td><td>Polygenic disorder</td></tr><tr><td><a href=\"http://snomed.info/id/429962007\">429962007</a></td><td>Disorder due to copy number variation</td></tr><tr><td><a href=\"http://snomed.info/id/718211000119104\">718211000119104</a></td><td>Disorder due to trinucleotide repeat expansion</td></tr><tr><td><a href=\"http://snomed.info/id/416010008\">416010008</a></td><td>Disorder due to uniparental disomy</td></tr><tr><td><a href=\"http://snomed.info/id/429252008\">429252008</a></td><td>Disorder due to genomic imprinting</td></tr><tr><td><a href=\"http://snomed.info/id/363235000\">363235000</a></td><td>Multifactorial disorder</td></tr></table></li></ul></div><div xml:lang=\"de\" lang=\"de\"><hr/><p><b>German</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: ValueSet mii-vs-seltene-genetic-basis</b></p><a name=\"de-mii-vs-seltene-genetic-basis\"> </a><a name=\"de-hcmii-vs-seltene-genetic-basis\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-shareablevalueset.html\">CRMI Shareable ValueSet</a>, <a href=\"http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-publishablevalueset.html\">CRMI Publishable ValueSet</a></p></div><ul><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"http://snomed.info/id/409709004\">409709004</a></td><td>Chromosomal disorder</td></tr><tr><td><a href=\"http://snomed.info/id/264530000\">264530000</a></td><td>Single gene disorder</td></tr><tr><td><a href=\"http://snomed.info/id/16402000\">16402000</a></td><td>Mitochondrial disorder</td></tr><tr><td><a href=\"http://snomed.info/id/268298002\">268298002</a></td><td>Polygenic disorder</td></tr><tr><td><a href=\"http://snomed.info/id/429962007\">429962007</a></td><td>Disorder due to copy number variation</td></tr><tr><td><a href=\"http://snomed.info/id/718211000119104\">718211000119104</a></td><td>Disorder due to trinucleotide repeat expansion</td></tr><tr><td><a href=\"http://snomed.info/id/416010008\">416010008</a></td><td>Disorder due to uniparental disomy</td></tr><tr><td><a href=\"http://snomed.info/id/429252008\">429252008</a></td><td>Disorder due to genomic imprinting</td></tr><tr><td><a href=\"http://snomed.info/id/363235000\">363235000</a></td><td>Multifactorial disorder</td></tr></table></li></ul></div></div>"
  },
  "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" : "2026-09-14T22:11:28+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"
      }]
    }]
  }
}