MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
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
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<timestamp value="2024-08-12T14:00:00Z"/>
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<Patient>
<id value="mii-exa-seltene-patient-sma-001"/>
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<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Patient_mii-exa-seltene-patient-sma-001"> </a><p class="res-header-id"><b>Generated Narrative: Patient mii-exa-seltene-patient-sma-001</b></p><a name="mii-exa-seltene-patient-sma-001"> </a><a name="hcmii-exa-seltene-patient-sma-001"> </a><p style="border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;">Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)</p><hr/></div>
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<birthDate value="2024-07-01"/>
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<entry>
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<resource>
<Condition>
<id value="mii-exa-seltene-condition-sma-suspected"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"/>
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<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Condition_mii-exa-seltene-condition-sma-suspected"> </a><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-condition-sma-suspected</b></p><a name="mii-exa-seltene-condition-sma-suspected"> </a><a name="hcmii-exa-seltene-condition-sma-suspected"> </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">Profile: <a href="StructureDefinition-mii-pr-seltene-clinical-diagnosis.html">MII PR SE Clinical Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-07-18</p><p><b>clinicalStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}">Active</span></p><p><b>verificationStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-ver-status unconfirmed}">Unconfirmed</span></p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-category encounter-diagnosis}">Encounter Diagnosis</span></p><p><b>code</b>: <span title="Codes:{http://snomed.info/sct 64383006}, {http://human-phenotype-ontology.org HP:0007373}">Verdacht auf Spinale Muskelatrophie</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>encounter</b>: <a href="Encounter-mii-exa-seltene-encounter-screening-001.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Neonatal screening (procedure); period = 2024-07-18 --> 2024-07-18; reasonCode = </a></p><p><b>recordedDate</b>: 2024-07-18</p><h3>Evidences</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Detail</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:">Positives Neugeborenenscreening</span></td><td><a href="Observation-mii-exa-seltene-observation-sma-screening.html">Observation Spinal muscular atrophy newborn screening panel</a></td></tr></table><p><b>note</b>: </p><blockquote><div><p>Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar</p>
</div></blockquote></div>
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<clinicalStatus>
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<code value="active"/>
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<verificationStatus>
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<code value="unconfirmed"/>
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<code value="encounter-diagnosis"/>
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<code>
<coding>
<system value="http://snomed.info/sct"/>
<code value="64383006"/>
<display value="Werdnig-Hoffmann disease"/>
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<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0007373"/>
<display value="Motor neuron atrophy"/>
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<text value="Verdacht auf Spinale Muskelatrophie"/>
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<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"/>
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<detail>🔗
<reference
value="Observation/mii-exa-seltene-observation-sma-screening"/>
</detail>
</evidence>
<note>
<text
value="Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar"/>
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<entry>
<fullUrl value="urn:uuid:7041e5af-feab-4650-af1b-e2051ba0a95a"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-sma-clinical"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis|2027.0.0-ballot"/>
</meta>
<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Condition_mii-exa-seltene-condition-sma-clinical"> </a><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-condition-sma-clinical</b></p><a name="mii-exa-seltene-condition-sma-clinical"> </a><a name="hcmii-exa-seltene-condition-sma-clinical"> </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">Profile: <a href="StructureDefinition-mii-pr-seltene-clinical-diagnosis.html">MII PR SE Clinical Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-07-22</p><p><b>clinicalStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}">Active</span></p><p><b>verificationStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-ver-status confirmed}">Confirmed</span></p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-category encounter-diagnosis}">Encounter Diagnosis</span></p><p><b>code</b>: <span title="Codes:{http://fhir.de/CodeSystem/bfarm/icd-10-gm G12.0}, {http://snomed.info/sct 64383006}, {http://www.orpha.net 83330}, {http://human-phenotype-ontology.org HP:0007373}">Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]</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>encounter</b>: <a href="Encounter-mii-exa-seltene-encounter-ambulant-001.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22</a></p><p><b>onset</b>: 2024-07-01</p><p><b>recordedDate</b>: 2024-07-22</p><h3>Evidences</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Detail</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:">Klinische Präsentation</span></td><td><a href="Observation-mii-exa-seltene-observation-troponin-001.html">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></td></tr></table><p><b>note</b>: </p><blockquote><div><p>Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin</p>
</div></blockquote></div>
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<code value="active"/>
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<code value="confirmed"/>
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<coding>
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<code value="encounter-diagnosis"/>
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<code>
<coding>
<system value="http://fhir.de/CodeSystem/bfarm/icd-10-gm"/>
<version value="2024"/>
<code value="G12.0"/>
<display
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<coding>
<system value="http://snomed.info/sct"/>
<code value="64383006"/>
<display value="Werdnig-Hoffmann disease"/>
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<coding>
<system value="http://www.orpha.net"/>
<code value="83330"/>
<display value="Proximal spinal muscular atrophy type 1"/>
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<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0007373"/>
<display value="Motor neuron atrophy"/>
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<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-sma-001"/>
</subject>
<encounter>🔗
<reference
value="Encounter/mii-exa-seltene-encounter-ambulant-001"/>
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<onsetDateTime value="2024-07-01"/>
<recordedDate value="2024-07-22"/>
<evidence>
<code>
<text value="Klinische Präsentation"/>
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<detail>🔗
<reference
value="Observation/mii-exa-seltene-observation-troponin-001"/>
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<note>
<text
value="Klinische Diagnose basierend auf typischer Präsentation: Neonatale Hypotonie, fehlende Muskeleigenreflexe, erhöhtes Troponin"/>
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<request>
<method value="POST"/>
<url value="Condition"/>
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<entry>
<fullUrl value="urn:uuid:9596df71-0f1b-495f-bf1c-16708dc952bf"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-sma-genetic"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis|2027.0.0-ballot"/>
</meta>
<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Condition_mii-exa-seltene-condition-sma-genetic"> </a><p class="res-header-id"><b>Generated Narrative: Condition mii-exa-seltene-condition-sma-genetic</b></p><a name="mii-exa-seltene-condition-sma-genetic"> </a><a name="hcmii-exa-seltene-condition-sma-genetic"> </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">Profile: <a href="StructureDefinition-mii-pr-seltene-genetic-diagnosis.html">MII PR SE Genetic Diagnosis</a> version: 2027.0.0-ballot</p></div><p><b>Condition Asserted Date</b>: 2024-07-26</p><p><b>clinicalStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-clinical active}">Active</span></p><p><b>verificationStatus</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/condition-ver-status confirmed}">Confirmed</span></p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 782964007}">Genetic disease</span></p><p><b>code</b>: <span title="Codes:{http://omim.org 253300}, {http://snomed.info/sct 64383006}, {http://www.orpha.net 83330}">Spinal muscular atrophy, type I</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>onset</b>: 2024-07-01</p><p><b>recordedDate</b>: 2024-07-26</p><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://snomed.info/sct 106221001}">Genetic finding</span></p><p><b>detail</b>: </p><ul><li><a href="Observation-mii-exa-seltene-variant-smn1-001.html">Observation Genetic analysis master panel</a></li><li><a href="Observation-mii-exa-seltene-variant-smn2-001.html">Observation Genetic analysis master panel</a></li></ul></blockquote><blockquote><p><b>evidence</b></p><p><b>code</b>: <span title="Codes:{http://snomed.info/sct 405824009}">Genetic test</span></p><p><b>detail</b>: <a href="DiagnosticReport-mii-exa-seltene-molgen-diagnostic-implication-sma.html">Diagnostic Report for 'Genetic analysis report' for '->Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)'</a></p></blockquote><p><b>note</b>: </p><blockquote><div><p>0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose.</p>
</div></blockquote></div>
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<coding>
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<code value="confirmed"/>
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<category>
<coding>
<system value="http://snomed.info/sct"/>
<code value="782964007"/>
<display value="Genetic disease"/>
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<code>
<coding>
<system value="http://omim.org"/>
<version value="2024"/>
<code value="253300"/>
<display value="Spinal muscular atrophy, type I"/>
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<coding>
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<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"/>
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</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"/>
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</code>
<detail>🔗
<reference value="Observation/mii-exa-seltene-variant-smn1-001"/>
</detail>
<detail>🔗
<reference value="Observation/mii-exa-seltene-variant-smn2-001"/>
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</evidence>
<evidence>
<code>
<coding>
<system value="http://snomed.info/sct"/>
<code value="405824009"/>
<display value="Genetic test"/>
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<detail>🔗
<reference
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<note>
<text
value="0 Kopien des SMN1-Gens, 2 Kopien des SMN2-Gens - krankheitsursächlich. Genetische Diagnose existiert parallel zur klinischen Diagnose."/>
</note>
</Condition>
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<request>
<method value="POST"/>
<url value="Condition"/>
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<entry>
<fullUrl value="urn:uuid:00e23000-f21c-470d-8f71-1942f0f72efe"/>
<resource>
<FamilyMemberHistory>
<id value="mii-exa-seltene-family-history-001"/>
<meta>
<profile
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<language value="en"/>
<text>
<status value="extensions"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="FamilyMemberHistory_mii-exa-seltene-family-history-001"> </a><p class="res-header-id"><b>Generated Narrative: FamilyMemberHistory mii-exa-seltene-family-history-001</b></p><a name="mii-exa-seltene-family-history-001"> </a><a name="hcmii-exa-seltene-family-history-001"> </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">Profile: <a href="StructureDefinition-mii-pr-seltene-familienanamnese.html">MII PR SE Familienanamnese</a> version: 2027.0.0-ballot</p></div><p><b>MII EX SE Von SE betroffen</b>: <span title="Codes:{http://snomed.info/sct 261665006}">Unknown</span></p><p><b>status</b>: Completed</p><p><b>patient</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>date</b>: 2024-07-22</p><p><b>relationship</b>: <span title="Codes:{http://snomed.info/sct 78652007}">Great grandmother</span></p><h3>Conditions</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://snomed.info/sct 129565002}">Unbekannte Muskelerkrankung</span></td></tr></table></div>
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<extension
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<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
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<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"/>
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<condition>
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<text value="Unbekannte Muskelerkrankung"/>
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<method value="POST"/>
<url value="FamilyMemberHistory"/>
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<entry>
<fullUrl value="urn:uuid:07ff35a6-561b-4a3b-bfc0-be528e6ab5a4"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-sma-screening"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-sma-screening"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-sma-screening</b></p><a name="mii-exa-seltene-observation-sma-screening"> </a><a name="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>
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<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>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:89231fbc-2218-499e-b3f5-c11368975c6e"/>
<resource>
<Observation>
<id value="mii-exa-seltene-variant-smn1-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-variant-smn1-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-variant-smn1-001</b></p><a name="mii-exa-seltene-variant-smn1-001"> </a><a name="hcmii-exa-seltene-variant-smn1-001"> </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 55233-1}">Genetic analysis master 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>: 2024-07-26</p><p><b>value</b>: <span title="Codes:{http://snomed.info/sct 10828004}">Positive</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation POS}">Positive</span></p><p><b>note</b>: </p><blockquote><div><p>Homozygote Deletion des SMN1-Gens, krankheitsursächlich für SMA</p>
</div></blockquote><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:11117}">SMN1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 62374-4}">Human reference sequence assembly version</span></p><p><b>value</b>: <span title="Codes:">GRCh38</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 LA6705-3}">Homozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:">Copy Number</span></p><p><b>value</b>: 0 copies</p></blockquote></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-variant-smn2-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-variant-smn2-001</b></p><a name="mii-exa-seltene-variant-smn2-001"> </a><a name="hcmii-exa-seltene-variant-smn2-001"> </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 55233-1}">Genetic analysis master 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>: 2024-07-26</p><p><b>note</b>: </p><blockquote><div><p>2 Kopien des SMN2-Gens, Modifikator des Phänotyps</p>
</div></blockquote><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:11118}">SMN2</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:">Copy Number</span></p><p><b>value</b>: 2 copies</p></blockquote></div>
</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"/>
</code>
<valueQuantity>
<value value="2"/>
<unit value="copies"/>
</valueQuantity>
</component>
</Observation>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:127dc51a-19ad-44ff-bf75-b1804d232109"/>
<resource>
<Procedure>
<id value="mii-exa-seltene-procedure-gentherapy-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Procedure_mii-exa-seltene-procedure-gentherapy-001"> </a><p class="res-header-id"><b>Generated Narrative: Procedure mii-exa-seltene-procedure-gentherapy-001</b></p><a name="mii-exa-seltene-procedure-gentherapy-001"> </a><a name="hcmii-exa-seltene-procedure-gentherapy-001"> </a><p><b>status</b>: Completed</p><p><b>category</b>: <span title="Codes:{http://snomed.info/sct 277132007}">Therapeutic procedure</span></p><p><b>code</b>: <span title="Codes:{http://fdasis.nlm.nih.gov MLU3LU3EVV}, {http://snomed.info/sct 788110002}">Gentherapie mit Onasemnogene abeparvovec (Zolgensma)</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>performed</b>: 2024-07-29</p><p><b>reasonReference</b>: <a href="Condition-mii-exa-seltene-condition-sma-genetic.html">Condition Spinal muscular atrophy, type I</a></p><p><b>note</b>: </p><blockquote><div><p>Gentherapeutikum ohne Komplikationen verabreicht, vorherige Gabe von Prednisolon</p>
</div></blockquote></div>
</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"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:ccdcbdd3-8153-4ef2-8d76-1ee0f681328b"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-alt-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-alt-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-alt-001</b></p><a name="mii-exa-seltene-observation-alt-001"> </a><a name="hcmii-exa-seltene-observation-alt-001"> </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 1742-6}">Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma</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>: 2024-07-29</p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation N}">Normal</span></p><p><b>note</b>: </p><blockquote><div><p>Normwertig post-therapeutisch</p>
</div></blockquote></div>
</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"/>
<interpretation>
<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>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:bb92ee35-b577-42a8-bf9a-b51cbe5debae"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-ast-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-ast-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-ast-001</b></p><a name="mii-exa-seltene-observation-ast-001"> </a><a name="hcmii-exa-seltene-observation-ast-001"> </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 1920-8}">Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma</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>: 2024-07-29</p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation N}">Normal</span></p><p><b>note</b>: </p><blockquote><div><p>Normwertig post-therapeutisch</p>
</div></blockquote></div>
</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="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"/>
</subject>
<effectiveDateTime value="2024-07-29"/>
<interpretation>
<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>
</resource>
<request>
<method value="POST"/>
<url value="Observation"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:38b52a28-bfa6-451f-8dad-9d0b8a8466bc"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-plt-001"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-plt-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-plt-001</b></p><a name="mii-exa-seltene-observation-plt-001"> </a><a name="hcmii-exa-seltene-observation-plt-001"> </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 777-3}">Platelets [#/volume] in Blood by Automated count</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>: 2024-07-29</p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation N}">Normal</span></p><p><b>note</b>: </p><blockquote><div><p>Normwertig post-therapeutisch</p>
</div></blockquote></div>
</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"/>
</subject>
<effectiveDateTime value="2024-07-29"/>
<interpretation>
<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>
</resource>
<request>
<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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-troponin-001"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-troponin-001</b></p><a name="mii-exa-seltene-observation-troponin-001"> </a><a name="hcmii-exa-seltene-observation-troponin-001"> </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 6598-7}">Troponin T.cardiac [Mass/volume] in Serum or Plasma</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>: 2024-07-22</p><p><b>value</b>: 92 ng/L<span style="background: LightGoldenRodYellow"> (Details: UCUM codeng/L = 'ng/L')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation H}">High</span></p></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-troponin-002"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-troponin-002</b></p><a name="mii-exa-seltene-observation-troponin-002"> </a><a name="hcmii-exa-seltene-observation-troponin-002"> </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 6598-7}">Troponin T.cardiac [Mass/volume] in Serum or Plasma</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>: 2024-07-28</p><p><b>value</b>: 58 ng/L<span style="background: LightGoldenRodYellow"> (Details: UCUM codeng/L = 'ng/L')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation H}">High</span></p></div>
</text>
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<code value="laboratory"/>
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<code>
<coding>
<system value="http://loinc.org"/>
<code value="6598-7"/>
<display
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</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"/>
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<display value="High"/>
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<entry>
<fullUrl value="urn:uuid:7d919637-556d-441d-8145-706eb3543fa3"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-troponin-003"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-troponin-003"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-troponin-003</b></p><a name="mii-exa-seltene-observation-troponin-003"> </a><a name="hcmii-exa-seltene-observation-troponin-003"> </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 6598-7}">Troponin T.cardiac [Mass/volume] in Serum or Plasma</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>: 2024-08-01</p><p><b>value</b>: 57 ng/L<span style="background: LightGoldenRodYellow"> (Details: UCUM codeng/L = 'ng/L')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation H}">High</span></p></div>
</text>
<status value="final"/>
<category>
<coding>
<system
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<code value="laboratory"/>
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<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"/>
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</interpretation>
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<request>
<method value="POST"/>
<url value="Observation"/>
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<entry>
<fullUrl value="urn:uuid:0ccc9861-03d4-403b-a650-a9f24d64a615"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-troponin-004"/>
<language value="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Observation_mii-exa-seltene-observation-troponin-004"> </a><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-seltene-observation-troponin-004</b></p><a name="mii-exa-seltene-observation-troponin-004"> </a><a name="hcmii-exa-seltene-observation-troponin-004"> </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 6598-7}">Troponin T.cardiac [Mass/volume] in Serum or Plasma</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>: 2024-08-12</p><p><b>value</b>: 106 ng/L<span style="background: LightGoldenRodYellow"> (Details: UCUM codeng/L = 'ng/L')</span></p><p><b>interpretation</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation H}">High</span></p><p><b>note</b>: </p><blockquote><div><p>Troponin T weiter erhöht, bereits prä-therapeutisch erhöht</p>
</div></blockquote></div>
</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"/>
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</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="ClinicalImpression_mii-exa-seltene-clinical-impression-erstvorstellung"> </a><p class="res-header-id"><b>Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-erstvorstellung</b></p><a name="mii-exa-seltene-clinical-impression-erstvorstellung"> </a><a name="hcmii-exa-seltene-clinical-impression-erstvorstellung"> </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">Profile: <a href="StructureDefinition-mii-pr-seltene-clinical-impression.html">MII Profile SE Clinical Impression</a> version: 2027.0.0-ballot</p></div><p><b>status</b>: Completed</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>encounter</b>: <a href="Encounter-mii-exa-seltene-encounter-ambulant-001.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-07-22 --> 2024-07-22</a></p><p><b>effective</b>: 2024-07-22</p><p><b>date</b>: 2024-07-22</p><p><b>problem</b>: <a href="Condition-mii-exa-seltene-condition-sma-suspected.html">Condition Werdnig-Hoffmann disease</a></p><blockquote><p><b>investigation</b></p><p><b>code</b>: <span title="Codes:">Familienanamnese</span></p><p><b>item</b>: <a href="FamilyMemberHistory-mii-exa-seltene-family-history-001.html">FamilyMemberHistory: extension = Unknown; status = completed; date = 2024-07-22; relationship = Great grandmother</a></p></blockquote><blockquote><p><b>investigation</b></p><p><b>code</b>: <span title="Codes:">Labordiagnostik</span></p><p><b>item</b>: <a href="Observation-mii-exa-seltene-observation-troponin-001.html">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></p></blockquote><p><b>summary</b>: Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).</p><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href="Condition-mii-exa-seltene-condition-sma-clinical.html">Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemReference</b>: <a href="Condition-mii-exa-seltene-condition-sma-genetic.html">Condition Spinal muscular atrophy, type I</a></p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 1363512008}">Troponin above reference range</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-observation-troponin-001.html">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></p></blockquote><p><b>prognosisCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 67334001}">Guarded prognosis</span></p><p><b>note</b>: , </p><blockquote><div><p>Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.</p>
</div></blockquote><blockquote><div><p>Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.</p>
</div></blockquote></div>
</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"/>
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</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="ClinicalImpression_mii-exa-seltene-clinical-impression-nachsorge"> </a><p class="res-header-id"><b>Generated Narrative: ClinicalImpression mii-exa-seltene-clinical-impression-nachsorge</b></p><a name="mii-exa-seltene-clinical-impression-nachsorge"> </a><a name="hcmii-exa-seltene-clinical-impression-nachsorge"> </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">Profile: <a href="StructureDefinition-mii-pr-seltene-clinical-impression.html">MII Profile SE Clinical Impression</a> version: 2027.0.0-ballot</p></div><p><b>status</b>: Completed</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>encounter</b>: <a href="Encounter-mii-exa-seltene-encounter-nachsorge-001.html">Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Follow-up encounter; period = 2024-08-12 --> 2024-08-12</a></p><p><b>effective</b>: 2024-08-12</p><p><b>date</b>: 2024-08-12</p><p><b>previous</b>: <a href="ClinicalImpression-mii-exa-seltene-clinical-impression-erstvorstellung.html">ClinicalImpression: status = completed; effective[x] = 2024-07-22; date = 2024-07-22; summary = Neugeborenes mit V.a. SMA aus Neugeborenenscreening. Familienanamnese zeigt unklare Muskelerkrankung der Urgroßmutter. Troponin T bereits erhöht (92 ng/l).; prognosisCodeableConcept = Guarded prognosis; note = Klinische Untersuchung gemäß SMA-Diagnoseprotokoll. Blutentnahme für Genetik veranlasst.,Klinisches Bild vereinbar mit SMA Typ 1. Molekulargenetische Bestätigung ausstehend. Eltern über Therapieoptionen informiert.</a></p><p><b>problem</b>: </p><ul><li><a href="Condition-mii-exa-seltene-condition-sma-clinical.html">Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]</a></li><li><a href="Condition-mii-exa-seltene-condition-sma-genetic.html">Condition Spinal muscular atrophy, type I</a></li></ul><p><b>summary</b>: Erste Nachsorge 14 Tage nach Gentherapie. Klinisch stabil. Troponin T weiter erhöht (106 ng/l), war jedoch bereits prätherapeutisch erhöht.</p><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 1363512008}">Troponin above reference range</span></p><p><b>itemReference</b>: <a href="Observation-mii-exa-seltene-observation-troponin-004.html">Observation Troponin T.cardiac [Mass/volume] in Serum or Plasma</a></p><p><b>basis</b>: Troponin-Verlauf: 22.07: 92 ng/l, 28.07: 58 ng/l, 01.08: 57 ng/l, 12.08: 106 ng/l</p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 166645004}">Alanine aminotransferase level within reference range</span></p><p><b>basis</b>: ALT normwertig</p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 166667003}">Aspartate aminotransferase/serum glutamic oxaloacetic transaminase level within reference range</span></p><p><b>basis</b>: AST normwertig</p></blockquote><blockquote><p><b>finding</b></p><p><b>itemCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 165555003}">Platelet count normal</span></p><p><b>basis</b>: Thrombozytenzahl normwertig</p></blockquote><p><b>prognosisCodeableConcept</b>: <span title="Codes:{http://snomed.info/sct 67334001}">Guarded prognosis</span></p><p><b>note</b>: , </p><blockquote><div><p>Standardisierte Nachsorgeuntersuchung nach Gentherapie gemäß Zentrumsprotokoll</p>
</div></blockquote><blockquote><div><p>Troponin-Erhöhung präexistent, nicht therapieassoziiert. Gentherapie gut vertragen. Weiterführung der Prednisolon-Therapie. Nächste Kontrolle in 4 Wochen.</p>
</div></blockquote></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-screening-001"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-screening-001</b></p><a name="mii-exa-seltene-encounter-screening-001"> </a><a name="hcmii-exa-seltene-encounter-screening-001"> </a><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-AMB">ActCode: AMB</a> (ambulatory)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 60151004}">Neonatal screening (procedure)</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>period</b>: 2024-07-18 --> 2024-07-18</p><p><b>reasonCode</b>: <span title="Codes:">Neugeborenenscreening</span></p></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-ambulant-001"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-ambulant-001</b></p><a name="mii-exa-seltene-encounter-ambulant-001"> </a><a name="hcmii-exa-seltene-encounter-ambulant-001"> </a><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-AMB">ActCode: AMB</a> (ambulatory)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 390906007}">Follow-up encounter</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>period</b>: 2024-07-22 --> 2024-07-22</p><h3>Diagnoses</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Condition</b></td><td><b>Use</b></td></tr><tr><td style="display: none">*</td><td><a href="Condition-mii-exa-seltene-condition-sma-clinical.html">Condition Infantile spinale Muskelatrophie, Typ I [Typ Werdnig-Hoffmann]</a></td><td><span title="Codes:{http://terminology.hl7.org/CodeSystem/diagnosis-role AD}">Admission diagnosis</span></td></tr></table></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-stationaer-001"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-stationaer-001</b></p><a name="mii-exa-seltene-encounter-stationaer-001"> </a><a name="hcmii-exa-seltene-encounter-stationaer-001"> </a><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-IMP">ActCode: IMP</a> (inpatient encounter)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 32485007}">Hospital admission</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>period</b>: 2024-07-29 --> 2024-07-30</p><h3>Diagnoses</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Condition</b></td><td><b>Use</b></td></tr><tr><td style="display: none">*</td><td><a href="Condition-mii-exa-seltene-condition-sma-genetic.html">Condition Spinal muscular atrophy, type I</a></td><td><span title="Codes:{http://terminology.hl7.org/CodeSystem/diagnosis-role CC}">Chief complaint</span></td></tr></table></div>
</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="en"/>
<text>
<status value="generated"/>
<div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><a name="Encounter_mii-exa-seltene-encounter-nachsorge-001"> </a><p class="res-header-id"><b>Generated Narrative: Encounter mii-exa-seltene-encounter-nachsorge-001</b></p><a name="mii-exa-seltene-encounter-nachsorge-001"> </a><a name="hcmii-exa-seltene-encounter-nachsorge-001"> </a><p><b>status</b>: Finished</p><p><b>class</b>: <a href="http://terminology.hl7.org/7.3.0/CodeSystem-v3-ActCode.html#v3-ActCode-AMB">ActCode: AMB</a> (ambulatory)</p><p><b>type</b>: <span title="Codes:{http://snomed.info/sct 390906007}">Follow-up encounter</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>period</b>: 2024-08-12 --> 2024-08-12</p><h3>Diagnoses</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Condition</b></td></tr><tr><td style="display: none">*</td><td><a href="Condition-mii-exa-seltene-condition-sma-genetic.html">Condition Spinal muscular atrophy, type I</a></td></tr></table></div>
</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>