MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions

: MII VS SE Genetic Basis (retired)

Retired Stand: 2026-09-14

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  "id" : "mii-vs-seltene-genetic-basis",
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  },
  "language" : "de",
  "text" : {
    "status" : "generated",
    "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>"
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      "valueDate" : "2026-09-02"
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      "valueContactDetail" : {
        "telecom" : [
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            "system" : "email",
            "value" : "thomas.debertshaeuser@charite.de"
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  "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",
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          },
          {
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            "display" : "Single gene disorder"
          },
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            "display" : "Mitochondrial disorder"
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            "display" : "Disorder due to copy number variation"
          },
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            "display" : "Disorder due to trinucleotide repeat expansion"
          },
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            "display" : "Disorder due to uniparental disomy"
          },
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          },
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}