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. For a full list of available versions, see the Directory of published versions

: Genotyp NIPBL

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-genotyp-2"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp|2027.0.0-ballot.1"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype|3.0.0"/>
  </meta>
  <language value="de"/>
  <text>
    <status value="generated"/>
    <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-genotyp-2</b></p><a name="de-mii-exa-molgen-genotyp-2"> </a><a name="de-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}">Genetik</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 ( Krankenaktennummer (use: usual, ))</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>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
      <display value="Laboratory"/>
    </coding>
  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="84413-4"/>
      <display value="Genotype display name"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-molgen-patient-2"/>
  </subject>
  <effectiveDateTime value="2022-03-16"/>
  <valueCodeableConcept>
    <text value="NIPBL Variante c.2207del p.(Pro736Glnfs*58) (heterozygot)"/>
  </valueCodeableConcept>
  <method>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA26398-0"/>
      <display value="Sequencing"/>
    </coding>
  </method>
  <specimen>🔗 
    <reference value="Specimen/mii-exa-molgen-specimen-2"/>
  </specimen>
  <device>🔗 
    <reference value="Device/mii-exa-molgen-device-sequencer-2"/>
  </device>
  <derivedFrom>🔗 
    <reference value="Observation/mii-exa-molgen-variante-2"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:28862"/>
        <display value="NIPBL"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48001-2"/>
        <display value="Cytogenetic (chromosome) location"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="urn:oid:2.16.840.1.113883.6.335"/>
        <code value="7q34"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>