<?xml version="1.0" encoding="UTF-8"?>

<Bundle xmlns="http://hl7.org/fhir">
  <id value="mii-exa-seltene-bundle-sma-complete"/>
  <language value="de"/>
  <type value="transaction"/>
  <timestamp value="2024-08-12T14:00:00Z"/>
  <entry>
    <fullUrl value="urn:uuid:6830d99e-9bbe-48ed-8927-ff28eadc42e0"/>
    <resource>
      <Patient>
        <id value="mii-exa-seltene-patient-sma-001"/>
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        </text>
        <identifier>
          <system value="https://www.medizininformatik-initiative.de/fhir/sid/patient-id"/>
          <value value="SMA-2024-001"/>
        </identifier>
        <gender value="female"/>
        <birthDate value="2024-07-01"/>
      </Patient>
    </resource>
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      <method value="POST"/>
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  <entry>
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    <resource>
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        <id value="mii-exa-seltene-condition-sma-suspected"/>
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        </meta>
        <language value="de"/>
        <text>
          <status value="extensions"/>
        </text>
        <extension url="http://hl7.org/fhir/StructureDefinition/condition-assertedDate">
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        </extension>
        <clinicalStatus>
          <coding>
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        </clinicalStatus>
        <verificationStatus>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/condition-ver-status"/>
            <code value="unconfirmed"/>
          </coding>
        </verificationStatus>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/condition-category"/>
            <code value="encounter-diagnosis"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="64383006"/>
            <display value="Werdnig-Hoffmann disease"/>
          </coding>
          <coding>
            <system value="http://human-phenotype-ontology.org"/>
            <code value="HP:0007373"/>
            <display value="Motor neuron atrophy"/>
          </coding>
          <text value="Verdacht auf Spinale Muskelatrophie"/>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <encounter>
          <reference value="Encounter/mii-exa-seltene-encounter-screening-001"/>
        </encounter>
        <recordedDate value="2024-07-18"/>
        <evidence>
          <code>
            <text value="Positives Neugeborenenscreening"/>
          </code>
          <detail>
            <reference value="Observation/mii-exa-seltene-observation-sma-screening"/>
          </detail>
        </evidence>
        <note>
          <text value="Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar"/>
        </note>
      </Condition>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Condition"/>
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  </entry>
  <entry>
    <fullUrl value="urn:uuid:7041e5af-feab-4650-af1b-e2051ba0a95a"/>
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      <Condition>
        <id value="mii-exa-seltene-condition-sma-clinical"/>
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          <status value="extensions"/>
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          <valueDateTime value="2024-07-22"/>
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            <system value="http://terminology.hl7.org/CodeSystem/condition-category"/>
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        <code>
          <coding>
            <system value="http://fhir.de/CodeSystem/bfarm/icd-10-gm"/>
            <version value="2024"/>
            <code value="G12.0"/>
            <display value="Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]"/>
          </coding>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="64383006"/>
            <display value="Werdnig-Hoffmann disease"/>
          </coding>
          <coding>
            <system value="http://www.orpha.net"/>
            <code value="83330"/>
            <display value="Proximal spinal muscular atrophy type 1"/>
          </coding>
          <coding>
            <system value="http://human-phenotype-ontology.org"/>
            <code value="HP:0007373"/>
            <display value="Motor neuron atrophy"/>
          </coding>
        </code>
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        </subject>
        <encounter>
          <reference value="Encounter/mii-exa-seltene-encounter-ambulant-001"/>
        </encounter>
        <onsetDateTime value="2024-07-01"/>
        <recordedDate value="2024-07-22"/>
        <evidence>
          <code>
            <text value="Klinische Präsentation"/>
          </code>
          <detail>
            <reference value="Observation/mii-exa-seltene-observation-troponin-001"/>
          </detail>
        </evidence>
        <note>
          <text value="Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin"/>
        </note>
      </Condition>
    </resource>
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      <method value="POST"/>
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  <entry>
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    <resource>
      <Condition>
        <id value="mii-exa-seltene-condition-sma-genetic"/>
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        </meta>
        <language value="de"/>
        <text>
          <status value="extensions"/>
        </text>
        <extension url="http://hl7.org/fhir/StructureDefinition/condition-assertedDate">
          <valueDateTime value="2024-07-26"/>
        </extension>
        <clinicalStatus>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/condition-clinical"/>
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        <verificationStatus>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/condition-ver-status"/>
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          </coding>
        </verificationStatus>
        <category>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="782964007"/>
            <display value="Genetic disease"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://omim.org"/>
            <version value="2024"/>
            <code value="253300"/>
            <display value="Spinal muscular atrophy, type I"/>
          </coding>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="64383006"/>
            <display value="Werdnig-Hoffmann disease"/>
          </coding>
          <coding>
            <system value="http://www.orpha.net"/>
            <code value="83330"/>
            <display value="Proximal spinal muscular atrophy type 1"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <onsetDateTime value="2024-07-01"/>
        <recordedDate value="2024-07-26"/>
        <evidence>
          <code>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="106221001"/>
              <display value="Genetic finding"/>
            </coding>
          </code>
          <detail>
            <reference value="Observation/mii-exa-seltene-variant-smn1-001"/>
          </detail>
          <detail>
            <reference value="Observation/mii-exa-seltene-variant-smn2-001"/>
          </detail>
        </evidence>
        <evidence>
          <code>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="405824009"/>
              <display value="Genetic test"/>
            </coding>
          </code>
          <detail>
            <reference value="DiagnosticReport/mii-exa-seltene-molgen-diagnostic-implication-sma"/>
          </detail>
        </evidence>
        <note>
          <text value="0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose."/>
        </note>
      </Condition>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Condition"/>
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  </entry>
  <entry>
    <fullUrl value="urn:uuid:00e23000-f21c-470d-8f71-1942f0f72efe"/>
    <resource>
      <FamilyMemberHistory>
        <id value="mii-exa-seltene-family-history-001"/>
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          <profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-familienanamnese|2027.0.0-ballot"/>
        </meta>
        <language value="de"/>
        <text>
          <status value="extensions"/>
        </text>
        <extension url="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-von-se-betroffen">
          <valueCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="261665006"/>
              <display value="Unknown"/>
            </coding>
          </valueCodeableConcept>
        </extension>
        <status value="completed"/>
        <patient>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </patient>
        <date value="2024-07-22"/>
        <relationship>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="78652007"/>
            <display value="Great grandmother"/>
          </coding>
        </relationship>
        <condition>
          <code>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="129565002"/>
              <display value="Disorder of muscle"/>
            </coding>
            <text value="Unbekannte Muskelerkrankung"/>
          </code>
        </condition>
      </FamilyMemberHistory>
    </resource>
    <request>
      <method value="POST"/>
      <url value="FamilyMemberHistory"/>
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  </entry>
  <entry>
    <fullUrl value="urn:uuid:07ff35a6-561b-4a3b-bfc0-be528e6ab5a4"/>
    <resource>
      <Observation>
        <id value="mii-exa-seltene-observation-sma-screening"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </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"/>
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        </valueCodeableConcept>
        <interpretation>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
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            <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"/>
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          <interpretation>
            <coding>
              <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
              <code value="A"/>
              <display value="Abnormal"/>
            </coding>
          </interpretation>
        </component>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
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  </entry>
  <entry>
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    <resource>
      <Observation>
        <id value="mii-exa-seltene-variant-smn1-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="55233-1"/>
            <display value="Genetic analysis master panel"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <effectiveDateTime value="2024-07-26"/>
        <valueCodeableConcept>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="10828004"/>
            <display value="Positive"/>
          </coding>
        </valueCodeableConcept>
        <interpretation>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
            <code value="POS"/>
            <display value="Positive"/>
          </coding>
        </interpretation>
        <note>
          <text value="Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA"/>
        </note>
        <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:11117"/>
              <display value="SMN1"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="62374-4"/>
              <display value="Human reference sequence assembly version"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <text value="GRCh38"/>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="53034-5"/>
              <display value="Allelic state"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://loinc.org"/>
              <code value="LA6705-3"/>
              <display value="Homozygous"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <text value="Copy Number"/>
          </code>
          <valueQuantity>
            <value value="0"/>
            <unit value="copies"/>
          </valueQuantity>
        </component>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:3325c12d-0646-433e-8e46-042168eccf92"/>
    <resource>
      <Observation>
        <id value="mii-exa-seltene-variant-smn2-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="55233-1"/>
            <display value="Genetic analysis master panel"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <effectiveDateTime value="2024-07-26"/>
        <note>
          <text value="2 Kopien des SMN2-Gens, Modifikator des Phänotyps"/>
        </note>
        <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:11118"/>
              <display value="SMN2"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <text value="Copy Number"/>
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          <valueQuantity>
            <value value="2"/>
            <unit value="copies"/>
          </valueQuantity>
        </component>
      </Observation>
    </resource>
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      <url value="Observation"/>
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  </entry>
  <entry>
    <fullUrl value="urn:uuid:127dc51a-19ad-44ff-bf75-b1804d232109"/>
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      <Procedure>
        <id value="mii-exa-seltene-procedure-gentherapy-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="completed"/>
        <category>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="277132007"/>
            <display value="Therapeutic procedure"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://fdasis.nlm.nih.gov"/>
            <code value="MLU3LU3EVV"/>
            <display value="ONASEMNOGENE ABEPARVOVEC"/>
          </coding>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="788110002"/>
            <display value="Onasemnogene abeparvovec"/>
          </coding>
          <text value="Gentherapie mit Onasemnogene abeparvovec (Zolgensma)"/>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <performedDateTime value="2024-07-29"/>
        <reasonReference>
          <reference value="Condition/mii-exa-seltene-condition-sma-genetic"/>
        </reasonReference>
        <note>
          <text value="Gentherapeutikum ohne Komplikationen verabreicht, vorherige Gabe von Prednisolon"/>
        </note>
      </Procedure>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Procedure"/>
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  <entry>
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      <Observation>
        <id value="mii-exa-seltene-observation-alt-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="1742-6"/>
            <display value="Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <effectiveDateTime value="2024-07-29"/>
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          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
            <code value="N"/>
            <display value="Normal"/>
          </coding>
        </interpretation>
        <note>
          <text value="Normwertig post-therapeutisch"/>
        </note>
      </Observation>
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      <method value="POST"/>
      <url value="Observation"/>
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    <resource>
      <Observation>
        <id value="mii-exa-seltene-observation-ast-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
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        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="1920-8"/>
            <display value="Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
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        <effectiveDateTime value="2024-07-29"/>
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            <display value="Normal"/>
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        </interpretation>
        <note>
          <text value="Normwertig post-therapeutisch"/>
        </note>
      </Observation>
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      <url value="Observation"/>
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      <Observation>
        <id value="mii-exa-seltene-observation-plt-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="777-3"/>
            <display value="Platelets [#/volume] in Blood by Automated count"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
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        <effectiveDateTime value="2024-07-29"/>
        <interpretation>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
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            <display value="Normal"/>
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        </interpretation>
        <note>
          <text value="Normwertig post-therapeutisch"/>
        </note>
      </Observation>
    </resource>
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      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:ab5b69cf-4eae-4aa3-8ce4-5b5eb1a4a46a"/>
    <resource>
      <Observation>
        <id value="mii-exa-seltene-observation-troponin-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="6598-7"/>
            <display value="Troponin T.cardiac [Mass/volume] in Serum or Plasma"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <effectiveDateTime value="2024-07-22"/>
        <valueQuantity>
          <value value="92"/>
          <unit value="ng/L"/>
          <system value="http://unitsofmeasure.org"/>
          <code value="ng/L"/>
        </valueQuantity>
        <interpretation>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
            <code value="H"/>
            <display value="High"/>
          </coding>
        </interpretation>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:23b8775e-4704-4037-930e-68d1628cf0b8"/>
    <resource>
      <Observation>
        <id value="mii-exa-seltene-observation-troponin-002"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="6598-7"/>
            <display value="Troponin T.cardiac [Mass/volume] in Serum or Plasma"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <effectiveDateTime value="2024-07-28"/>
        <valueQuantity>
          <value value="58"/>
          <unit value="ng/L"/>
          <system value="http://unitsofmeasure.org"/>
          <code value="ng/L"/>
        </valueQuantity>
        <interpretation>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
            <code value="H"/>
            <display value="High"/>
          </coding>
        </interpretation>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:7d919637-556d-441d-8145-706eb3543fa3"/>
    <resource>
      <Observation>
        <id value="mii-exa-seltene-observation-troponin-003"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="6598-7"/>
            <display value="Troponin T.cardiac [Mass/volume] in Serum or Plasma"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <effectiveDateTime value="2024-08-01"/>
        <valueQuantity>
          <value value="57"/>
          <unit value="ng/L"/>
          <system value="http://unitsofmeasure.org"/>
          <code value="ng/L"/>
        </valueQuantity>
        <interpretation>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
            <code value="H"/>
            <display value="High"/>
          </coding>
        </interpretation>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:0ccc9861-03d4-403b-a650-a9f24d64a615"/>
    <resource>
      <Observation>
        <id value="mii-exa-seltene-observation-troponin-004"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="final"/>
        <category>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/observation-category"/>
            <code value="laboratory"/>
          </coding>
        </category>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="6598-7"/>
            <display value="Troponin T.cardiac [Mass/volume] in Serum or Plasma"/>
          </coding>
        </code>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <effectiveDateTime value="2024-08-12"/>
        <valueQuantity>
          <value value="106"/>
          <unit value="ng/L"/>
          <system value="http://unitsofmeasure.org"/>
          <code value="ng/L"/>
        </valueQuantity>
        <interpretation>
          <coding>
            <system value="http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"/>
            <code value="H"/>
            <display value="High"/>
          </coding>
        </interpretation>
        <note>
          <text value="Troponin T weiter erhöht, bereits prä-therapeutisch erhöht"/>
        </note>
      </Observation>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Observation"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:81c1e902-ea19-4d32-adbf-3ee234509cf6"/>
    <resource>
      <ClinicalImpression>
        <id value="mii-exa-seltene-clinical-impression-erstvorstellung"/>
        <meta>
          <profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"/>
        </meta>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="completed"/>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <encounter>
          <reference value="Encounter/mii-exa-seltene-encounter-ambulant-001"/>
        </encounter>
        <effectiveDateTime value="2024-07-22"/>
        <date value="2024-07-22"/>
        <problem>
          <reference value="Condition/mii-exa-seltene-condition-sma-suspected"/>
        </problem>
        <investigation>
          <code>
            <text value="Familienanamnese"/>
          </code>
          <item>
            <reference value="FamilyMemberHistory/mii-exa-seltene-family-history-001"/>
          </item>
        </investigation>
        <investigation>
          <code>
            <text value="Labordiagnostik"/>
          </code>
          <item>
            <reference value="Observation/mii-exa-seltene-observation-troponin-001"/>
          </item>
        </investigation>
        <summary value="Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l)."/>
        <finding>
          <itemReference>
            <reference value="Condition/mii-exa-seltene-condition-sma-clinical"/>
          </itemReference>
        </finding>
        <finding>
          <itemReference>
            <reference value="Condition/mii-exa-seltene-condition-sma-genetic"/>
          </itemReference>
        </finding>
        <finding>
          <itemCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="1363512008"/>
              <display value="Troponin above reference range"/>
            </coding>
          </itemCodeableConcept>
          <itemReference>
            <reference value="Observation/mii-exa-seltene-observation-troponin-001"/>
          </itemReference>
        </finding>
        <prognosisCodeableConcept>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="67334001"/>
            <display value="Guarded prognosis"/>
          </coding>
        </prognosisCodeableConcept>
        <note>
          <text value="Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst."/>
        </note>
        <note>
          <text value="Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert."/>
        </note>
      </ClinicalImpression>
    </resource>
    <request>
      <method value="POST"/>
      <url value="ClinicalImpression"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:b764f4a2-50c0-4624-ad49-8eb9405aaf9d"/>
    <resource>
      <ClinicalImpression>
        <id value="mii-exa-seltene-clinical-impression-nachsorge"/>
        <meta>
          <profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-impression|2027.0.0-ballot"/>
        </meta>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="completed"/>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <encounter>
          <reference value="Encounter/mii-exa-seltene-encounter-nachsorge-001"/>
        </encounter>
        <effectiveDateTime value="2024-08-12"/>
        <date value="2024-08-12"/>
        <previous>
          <reference value="ClinicalImpression/mii-exa-seltene-clinical-impression-erstvorstellung"/>
        </previous>
        <problem>
          <reference value="Condition/mii-exa-seltene-condition-sma-clinical"/>
        </problem>
        <problem>
          <reference value="Condition/mii-exa-seltene-condition-sma-genetic"/>
        </problem>
        <summary value="Erste Nachsorge 14 Tage nach Gentherapie. Klinisch stabil. Troponin T weiter erhöht (106 ng/l), war jedoch bereits prätherapeutisch erhöht."/>
        <finding>
          <itemCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="1363512008"/>
              <display value="Troponin above reference range"/>
            </coding>
          </itemCodeableConcept>
          <itemReference>
            <reference value="Observation/mii-exa-seltene-observation-troponin-004"/>
          </itemReference>
          <basis value="Troponin-Verlauf: 22.07: 92 ng/l, 28.07: 58 ng/l, 01.08: 57 ng/l, 12.08: 106 ng/l"/>
        </finding>
        <finding>
          <itemCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="166645004"/>
              <display value="Alanine aminotransferase level within reference range"/>
            </coding>
          </itemCodeableConcept>
          <basis value="ALT normwertig"/>
        </finding>
        <finding>
          <itemCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="166667003"/>
              <display value="Aspartate aminotransferase/serum glutamic oxaloacetic transaminase level within reference range"/>
            </coding>
          </itemCodeableConcept>
          <basis value="AST normwertig"/>
        </finding>
        <finding>
          <itemCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="165555003"/>
              <display value="Platelet count normal"/>
            </coding>
          </itemCodeableConcept>
          <basis value="Thrombozytenzahl normwertig"/>
        </finding>
        <prognosisCodeableConcept>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="67334001"/>
            <display value="Guarded prognosis"/>
          </coding>
        </prognosisCodeableConcept>
        <note>
          <text value="Standardisierte Nachsorgeuntersuchung nach Gentherapie gemäß Zentrumsprotokoll"/>
        </note>
        <note>
          <text value="Troponin-Erhöhung präexistent, nicht therapieassoziiert. Gentherapie gut vertragen. Weiterführung der Prednisolon-Therapie. Nächste Kontrolle in 4 Wochen."/>
        </note>
      </ClinicalImpression>
    </resource>
    <request>
      <method value="POST"/>
      <url value="ClinicalImpression"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:8320638f-eca2-4586-b173-bd0c49d9ae9d"/>
    <resource>
      <Encounter>
        <id value="mii-exa-seltene-encounter-screening-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="finished"/>
        <class>
          <system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
          <code value="AMB"/>
          <display value="ambulatory"/>
        </class>
        <type>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="60151004"/>
            <display value="Neonatal screening (procedure)"/>
          </coding>
        </type>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <period>
          <start value="2024-07-18"/>
          <end value="2024-07-18"/>
        </period>
        <reasonCode>
          <text value="Neugeborenenscreening"/>
        </reasonCode>
      </Encounter>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Encounter"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:98afd481-d1d6-4c2e-9d1c-51c651964e5f"/>
    <resource>
      <Encounter>
        <id value="mii-exa-seltene-encounter-ambulant-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="finished"/>
        <class>
          <system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
          <code value="AMB"/>
          <display value="ambulatory"/>
        </class>
        <type>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="390906007"/>
            <display value="Follow-up encounter"/>
          </coding>
        </type>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <period>
          <start value="2024-07-22"/>
          <end value="2024-07-22"/>
        </period>
        <diagnosis>
          <condition>
            <reference value="Condition/mii-exa-seltene-condition-sma-clinical"/>
          </condition>
          <use>
            <coding>
              <system value="http://terminology.hl7.org/CodeSystem/diagnosis-role"/>
              <code value="AD"/>
              <display value="Admission diagnosis"/>
            </coding>
          </use>
        </diagnosis>
      </Encounter>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Encounter"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:bdb5bd40-064b-4b79-aab6-8d9cc9db4873"/>
    <resource>
      <Encounter>
        <id value="mii-exa-seltene-encounter-stationaer-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="finished"/>
        <class>
          <system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
          <code value="IMP"/>
          <display value="inpatient encounter"/>
        </class>
        <type>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="32485007"/>
            <display value="Hospital admission"/>
          </coding>
        </type>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <period>
          <start value="2024-07-29"/>
          <end value="2024-07-30"/>
        </period>
        <diagnosis>
          <condition>
            <reference value="Condition/mii-exa-seltene-condition-sma-genetic"/>
          </condition>
          <use>
            <coding>
              <system value="http://terminology.hl7.org/CodeSystem/diagnosis-role"/>
              <code value="CC"/>
              <display value="Chief complaint"/>
            </coding>
          </use>
        </diagnosis>
      </Encounter>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Encounter"/>
    </request>
  </entry>
  <entry>
    <fullUrl value="urn:uuid:f8e29cb1-a8a9-4d56-ac0e-65fca096f860"/>
    <resource>
      <Encounter>
        <id value="mii-exa-seltene-encounter-nachsorge-001"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <status value="finished"/>
        <class>
          <system value="http://terminology.hl7.org/CodeSystem/v3-ActCode"/>
          <code value="AMB"/>
          <display value="ambulatory"/>
        </class>
        <type>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="390906007"/>
            <display value="Follow-up encounter"/>
          </coding>
        </type>
        <subject>
          <reference value="Patient/mii-exa-seltene-patient-sma-001"/>
        </subject>
        <period>
          <start value="2024-08-12"/>
          <end value="2024-08-12"/>
        </period>
        <diagnosis>
          <condition>
            <reference value="Condition/mii-exa-seltene-condition-sma-genetic"/>
          </condition>
        </diagnosis>
      </Encounter>
    </resource>
    <request>
      <method value="POST"/>
      <url value="Encounter"/>
    </request>
  </entry>
</Bundle>