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

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

: Variante SMO CNV

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-variante-cnv-4",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1"🔗 ,
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"
    ]
  },
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-variante-cnv-4</b></p><a name=\"mii-exa-molgen-variante-cnv-4\"> </a><a name=\"hcmii-exa-molgen-variante-cnv-4\"> </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=\"StructureDefinition-mii-pr-molgen-variante.html\">MII PR MolGen Variante</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a> version: 3.0.0</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}\">Genetics</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-2.html\">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2022-03-16</p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX</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:11119}\">SMO</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://sequenceontology.org SO:0001742}\">copy_number_gain</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 82155-3}\">Genomic structural variant copy number</span></p><p><b>value</b>: 6 1<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://loinc.org 47999-8}\">DNA region name [Identifier]</span></p><p><b>value</b>: Ex 1-10</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48000-4}\">Chromosome [Identifier] in Blood or Tissue by Molecular genetics method</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA21260-7}\">Chromosome 7</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48001-2}\">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title=\"Codes:{urn:oid:2.16.840.1.113883.6.335 7q32.1}\">7q32.1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 55 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 87706-8}\">Laboratory device Detection limit</span></p><p><b>value</b>: &gt;95 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code% = '%')</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory",
          "display" : "Laboratory"
        }
      ]
    },
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE"
        }
      ]
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "69548-6",
        "display" : "Genetic variant assessment"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-molgen-patient-2"
  },
  "effectiveDateTime" : "2022-03-16",
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "LA9633-4",
        "display" : "Present"
      }
    ]
  },
  "method" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "LA26398-0",
        "display" : "Sequencing"
      }
    ],
    "text" : "Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX"
  },
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:11119",
            "display" : "SMO"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48019-4"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://sequenceontology.org",
            "code" : "SO:0001742",
            "display" : "copy_number_gain"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "82155-3"
          }
        ]
      },
      "valueQuantity" : {
        "value" : 6,
        "unit" : "1",
        "system" : "http://unitsofmeasure.org",
        "code" : "1"
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    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "47999-8"
          }
        ]
      },
      "valueString" : "Ex 1-10"
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48000-4"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "LA21260-7",
            "display" : "Chromosome 7"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48001-2"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "urn:oid:2.16.840.1.113883.6.335",
            "code" : "7q32.1"
          }
        ]
      }
    },
    {
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        "coding" : [
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      "valueQuantity" : {
        "value" : 55,
        "unit" : "%",
        "system" : "http://unitsofmeasure.org",
        "code" : "%"
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        "coding" : [
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      "valueQuantity" : {
        "value" : 95,
        "comparator" : ">",
        "unit" : "%",
        "system" : "http://unitsofmeasure.org",
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