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

: Genotyp NIPBL

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{
  "resourceType" : "Observation",
  "id" : "mii-exa-molgen-genotyp-2",
  "meta" : {
    "profile" : [
      🔗 "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp|2027.0.0-ballot.1"🔗 ,
      "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype|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-genotyp-2</b></p><a name=\"mii-exa-molgen-genotyp-2\"> </a><a name=\"hcmii-exa-molgen-genotyp-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-genotyp.html\">MII PR MolGen Genotyp</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genotype.html\">Genotype</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 84413-4}\">Genotype display name</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:\">NIPBL Variante c.2207del p.(Pro736Glnfs*58) (heterozygot)</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">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><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-2.html\">Observation Genetic variant assessment</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 48001-2}\">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title=\"Codes:{urn:oid:2.16.840.1.113883.6.335 7q34}\">7q34</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" : "84413-4",
        "display" : "Genotype display name"
      }
    ]
  },
  "subject" : {
    🔗 "reference" : "Patient/mii-exa-molgen-patient-2"
  },
  "effectiveDateTime" : "2022-03-16",
  "valueCodeableConcept" : {
    "text" : "NIPBL Variante c.2207del p.(Pro736Glnfs*58) (heterozygot)"
  },
  "method" : {
    "coding" : [
      {
        "system" : "http://loinc.org",
        "code" : "LA26398-0",
        "display" : "Sequencing"
      }
    ]
  },
  "specimen" : {
    🔗 "reference" : "Specimen/mii-exa-molgen-specimen-2"
  },
  "device" : {
    🔗 "reference" : "Device/mii-exa-molgen-device-sequencer-2"
  },
  "derivedFrom" : [
    {
      🔗 "reference" : "Observation/mii-exa-molgen-variante-2"
    }
  ],
  "component" : [
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "http://www.genenames.org/geneId",
            "code" : "HGNC:28862",
            "display" : "NIPBL"
          }
        ]
      }
    },
    {
      "code" : {
        "coding" : [
          {
            "system" : "http://loinc.org",
            "code" : "48001-2",
            "display" : "Cytogenetic (chromosome) location"
          }
        ]
      },
      "valueCodeableConcept" : {
        "coding" : [
          {
            "system" : "urn:oid:2.16.840.1.113883.6.335",
            "code" : "7q34"
          }
        ]
      }
    }
  ]
}