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

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: NIPBL Variante

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-variante-2",
  "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-2</b></p><a name=\"mii-exa-molgen-variante-2\"> </a><a name=\"hcmii-exa-molgen-variante-2\"> </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>basedOn</b>: <a href=\"ServiceRequest-mii-exa-molgen-anforderung-2.html\">ServiceRequest Molecular genetic test (procedure)</a></p><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}, {http://loinc.org 86206-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-2.html\">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24</a></p><p><b>device</b>: <a href=\"Device-mii-exa-molgen-device-sequencer-2.html\">Device: status = active; manufacturer = Illumina</a></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:28862}\">NIPBL</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_133433.4}\">NM_133433.4</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>: Exon #10</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_133433.4:c.2207del}\">NM_133433.4:c.2207del</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.(Pro736Glnfs*58)}\">p.(Pro736Glnfs*58)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</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:0000159}\">Deletion</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 5p13.2}\">5p13.2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 1076298}, {http://www.ncbi.nlm.nih.gov/clinvar VCV001076298.1}\">1076298</span></p></blockquote></div>"
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      🔗 "reference" : "ServiceRequest/mii-exa-molgen-anforderung-2"
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  "status" : "final",
  "category" : [
    {
      "coding" : [
        {
          "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
          "code" : "laboratory",
          "display" : "Laboratory"
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      ]
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          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
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      ]
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  ],
  "code" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "69548-6",
        "display" : "Genetic variant assessment"
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    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-molgen-patient-2"
  },
  "effectiveDateTime" : "2022-03-16",
  "valueCodeableConcept" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "LA9633-4",
        "display" : "Present"
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    ]
  },
  "method" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "LA26398-0",
        "display" : "Sequencing"
      },
      {
        "system" : "http://loinc.org",
        "code" : "86206-0",
        "display" : "Whole genome sequence analysis in Blood or Tissue by Molecular genetics method"
      }
    ]
  },
  "specimen" : {
    🔗 "reference" : "Specimen/mii-exa-molgen-specimen-2"
  },
  "device" : {
    🔗 "reference" : "Device/mii-exa-molgen-device-sequencer-2"
  },
  "component" : [
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            "system" : "http://loinc.org",
            "code" : "48018-6",
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      "valueCodeableConcept" : {
        "coding" : [
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            "system" : "http://www.genenames.org/geneId",
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      "valueCodeableConcept" : {
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      "valueString" : "Exon #10"
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      "valueCodeableConcept" : {
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    {
      "code" : {
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            "code" : "48005-3",
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        ]
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    {
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            "code" : "53034-5",
            "display" : "Allelic state"
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        ]
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      "valueCodeableConcept" : {
        "coding" : [
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            "code" : "LA6706-1",
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    {
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        "coding" : [
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            "code" : "48019-4",
            "display" : "DNA change type"
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        ]
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      "valueCodeableConcept" : {
        "coding" : [
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            "display" : "Deletion"
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    {
      "code" : {
        "coding" : [
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            "code" : "48001-2",
            "display" : "Cytogenetic (chromosome) location"
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            "code" : "81252-9",
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      "valueCodeableConcept" : {
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            "code" : "1076298"
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          {
            "system" : "http://www.ncbi.nlm.nih.gov/clinvar",
            "code" : "VCV001076298.1"
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