MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot -
Germany
MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions
<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"/>
<language value="de"/>
<text>
<status value="generated"/>
</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>
<request>
<method value="POST"/>
<url value="Patient"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:117180a6-0392-47c5-8841-aa5b57d0e47e"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-sma-suspected"/>
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<language value="de"/>
<text>
<status value="extensions"/>
</text>
<extension
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<clinicalStatus>
<coding>
<system
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<code value="active"/>
</coding>
</clinicalStatus>
<verificationStatus>
<coding>
<system
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<code value="unconfirmed"/>
</coding>
</verificationStatus>
<category>
<coding>
<system
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<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>
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<language value="de"/>
<text>
<status value="extensions"/>
</text>
<extension
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<valueDateTime value="2024-07-22"/>
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<clinicalStatus>
<coding>
<system
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<code value="active"/>
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<verificationStatus>
<coding>
<system
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<code value="confirmed"/>
</coding>
</verificationStatus>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/condition-category"/>
<code value="encounter-diagnosis"/>
</coding>
</category>
<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>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-sma-001"/>
</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>
<request>
<method value="POST"/>
<url value="Condition"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:9596df71-0f1b-495f-bf1c-16708dc952bf"/>
<resource>
<Condition>
<id value="mii-exa-seltene-condition-sma-genetic"/>
<meta>
<profile
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</meta>
<language value="de"/>
<text>
<status value="extensions"/>
</text>
<extension
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<valueDateTime value="2024-07-26"/>
</extension>
<clinicalStatus>
<coding>
<system
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<code value="active"/>
</coding>
</clinicalStatus>
<verificationStatus>
<coding>
<system
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<code value="confirmed"/>
</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"/>
<meta>
<profile
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</meta>
<language value="de"/>
<text>
<status value="extensions"/>
</text>
<extension
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<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"/>
</request>
</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
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<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"/>
</coding>
</valueCodeableConcept>
<interpretation>
<coding>
<system
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<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
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</coding>
</code>
<valueQuantity>
<value value="0"/>
<unit value="Ct"/>
<system value="http://unitsofmeasure.org"/>
<code value="1"/>
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<interpretation>
<coding>
<system
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<code value="A"/>
<display value="Abnormal"/>
</coding>
</interpretation>
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<method value="POST"/>
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<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
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<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"/>
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<entry>
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<resource>
<Observation>
<id value="mii-exa-seltene-variant-smn2-001"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
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<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="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"/>
</request>
</entry>
<entry>
<fullUrl value="urn:uuid:ccdcbdd3-8153-4ef2-8d76-1ee0f681328b"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-alt-001"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
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<code value="laboratory"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="1742-6"/>
<display
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</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-sma-001"/>
</subject>
<effectiveDateTime value="2024-07-29"/>
<interpretation>
<coding>
<system
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<code value="N"/>
<display value="Normal"/>
</coding>
</interpretation>
<note>
<text value="Normwertig post-therapeutisch"/>
</note>
</Observation>
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<request>
<method value="POST"/>
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</entry>
<entry>
<fullUrl value="urn:uuid:bb92ee35-b577-42a8-bf9a-b51cbe5debae"/>
<resource>
<Observation>
<id value="mii-exa-seltene-observation-ast-001"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
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<code value="laboratory"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="1920-8"/>
<display
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</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-sma-001"/>
</subject>
<effectiveDateTime value="2024-07-29"/>
<interpretation>
<coding>
<system
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<note>
<text value="Normwertig post-therapeutisch"/>
</note>
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<Observation>
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<status value="generated"/>
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<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="777-3"/>
<display
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</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-seltene-patient-sma-001"/>
</subject>
<effectiveDateTime value="2024-07-29"/>
<interpretation>
<coding>
<system
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</coding>
</interpretation>
<note>
<text value="Normwertig post-therapeutisch"/>
</note>
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<entry>
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<resource>
<Observation>
<id value="mii-exa-seltene-observation-troponin-001"/>
<language value="de"/>
<text>
<status value="generated"/>
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<status value="final"/>
<category>
<coding>
<system
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<code value="laboratory"/>
</coding>
</category>
<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="2024-07-22"/>
<valueQuantity>
<value value="92"/>
<unit value="ng/L"/>
<system value="http://unitsofmeasure.org"/>
<code value="ng/L"/>
</valueQuantity>
<interpretation>
<coding>
<system
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<code value="H"/>
<display value="High"/>
</coding>
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</Observation>
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<request>
<method value="POST"/>
<url value="Observation"/>
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<entry>
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<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>