MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) 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

: SMA Neugeborenenscreening Ergebnis

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-observation-sma-screening"/>
  <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-seltene-observation-sma-screening</b></p><a name="de-mii-exa-seltene-observation-sma-screening"> </a><a name="de-hcmii-exa-seltene-observation-sma-screening"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92005-8}">Spinal muscular atrophy newborn screening panel</span></p><p><b>subject</b>: <a href="Patient-mii-exa-seltene-patient-sma-001.html">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</a></p><p><b>effective</b>: 2024-07-18</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 260373001}">Detected</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p><p><b>note</b>: </p><blockquote><div><p>Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen.</p>
</div></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92004-1}">Spinal muscular atrophy newborn screen interpretation</span></p><p><b>value</b>: <span title="Codes:">Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92002-5}">SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection</span></p><p><b>value</b>: 0 Ct<span style="background: LightGoldenRodYellow"> (Details: UCUM  code1 = '1')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation A}">Abnormal</span></p></blockquote></div>
  </text>
  <status value="final"/>
  <category>
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              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
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  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="92005-8"/>
      <display value="Spinal muscular atrophy newborn screening panel"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
  </subject>
  <effectiveDateTime value="2024-07-18"/>
  <valueCodeableConcept>
    <coding>
      <system value="http://snomed.info/sct"/>
      <code value="260373001"/>
      <display value="Detected"/>
    </coding>
  </valueCodeableConcept>
  <interpretation>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
      <code value="A"/>
      <display value="Abnormal"/>
    </coding>
  </interpretation>
  <note>
    <text
          value="Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen."/>
  </note>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="92004-1"/>
        <display
                 value="Spinal muscular atrophy newborn screen interpretation"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen"/>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="92002-5"/>
        <display
                 value="SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="0"/>
      <unit value="Ct"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="1"/>
    </valueQuantity>
    <interpretation>
      <coding>
        <system
                value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
        <code value="A"/>
        <display value="Abnormal"/>
      </coding>
    </interpretation>
  </component>
</Observation>