MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: KMT2A Pathogenic Variant from WES

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  "id" : "mii-exa-molgen-variante-comprehensive-pathogenic",
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      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1"
    ]
  },
  "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: Observation mii-exa-molgen-variante-comprehensive-pathogenic</b></p><a name=\"de-mii-exa-molgen-variante-comprehensive-pathogenic\"> </a><a name=\"de-hcmii-exa-molgen-variante-comprehensive-pathogenic\"> </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\">Profile: <a href=\"StructureDefinition-mii-pr-molgen-variante.html\">MII PR MolGen Variante</a> version: 2027.0.0-ballot.1</p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2024-01-10</p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:7132}\">KMT2A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_001197104.2:c.3463C&gt;T}\">NM_001197104.2:c.3463C&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org p.(Arg1155Ter)}\">p.(Arg1155Ter)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82121-5}\">Allelic read depth</span></p><p><b>value</b>: 45 reads<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs variant-confidence-status}\">Variant confidence status</span></p><p><b>value</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/variant-confidence-status-cs high}\">High</span></p></blockquote></div>"
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  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-molgen-patient"
  },
  "effectiveDateTime" : "2024-01-10",
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        "code" : "LA9633-4",
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  "component" : [
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      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:7132",
            "display" : "KMT2A"
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        ]
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    },
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            "code" : "48004-6",
            "display" : "DNA change (c.HGVS)"
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      "valueCodeableConcept" : {
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            "code" : "NM_001197104.2:c.3463C>T"
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        ]
      }
    },
    {
      "code" : {
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            "system" : "http://loinc.org",
            "code" : "48005-3",
            "display" : "Amino acid change (pHGVS)"
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        ]
      },
      "valueCodeableConcept" : {
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            "system" : "http://varnomen.hgvs.org",
            "code" : "p.(Arg1155Ter)"
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            "code" : "82121-5",
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        "value" : 45,
        "unit" : "reads",
        "system" : "http://unitsofmeasure.org",
        "code" : "1"
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