MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions
<Bundle xmlns="http://hl7.org/fhir">
<id value="mii-exa-befund-bundle-1-braf"/>
<language value="de"/>
<type value="transaction"/>
<timestamp value="2022-07-14T12:11:00+01:00"/>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-befundbericht-1"/>
<resource>
<DiagnosticReport>
<id value="mii-exa-molgen-befundbericht-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference">
<valueReference>🔗
<reference value="Procedure/mii-exa-molgen-genomic-study-1"/>
</valueReference>
</extension>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action">
<valueReference>🔗
<reference value="Task/mii-exa-molgen-medikationsempfehlung-1"/>
</valueReference>
</extension>
<extension
url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action">
<valueReference>🔗
<reference value="Task/mii-exa-molgen-folgemassnahme-1"/>
</valueReference>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo">
<valueReference>🔗
<reference
value="FamilyMemberHistory/mii-exa-molgen-family-member-history-1"/>
</valueReference>
</extension>
<basedOn>🔗
<reference value="ServiceRequest/mii-exa-molgen-anforderung-1"/>
</basedOn>
<status value="final"/>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
<display value="Genetics"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51969-4"/>
<display value="Genetic analysis report"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<performer>🔗
<reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
</performer>
<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-1"/>
</specimen>
<result>🔗
<reference
value="Observation/mii-exa-molgen-diagnostische-implikation-1"/>
</result>
<result>🔗
<reference
value="Observation/mii-exa-molgen-therapeutische-implikation-1"/>
</result>
<result>🔗
<reference value="Observation/mii-exa-molgen-variante-1"/>
</result>
<result>🔗
<reference value="Observation/mii-exa-molgen-genotyp-1"/>
</result>
<result>🔗
<reference value="Observation/mii-exa-molgen-mutationslast-1"/>
</result>
<result>🔗
<reference
value="Observation/mii-exa-molgen-mikrosatelliteninstabilitaet-1"/>
</result>
<conclusion
value="BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen."/>
</DiagnosticReport>
</resource>
<request>
<method value="PUT"/>
<url value="DiagnosticReport/mii-exa-molgen-befundbericht-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-medikationsempfehlung-1"/>
<resource>
<Task>
<id value="mii-exa-molgen-medikationsempfehlung-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/medikationsempfehlung|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-recommendation|3.0.0"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<basedOn>🔗
<reference value="ServiceRequest/mii-exa-molgen-anforderung-1"/>
</basedOn>
<status value="requested"/>
<intent value="proposal"/>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="LA26421-0"/>
<display value="Consider alternative medication"/>
</coding>
<text value="Alternative Medikation in Erwägung ziehen"/>
</code>
<for>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</for>
<reasonReference>🔗
<reference
value="Observation/mii-exa-molgen-therapeutische-implikation-1"/>
</reasonReference>
</Task>
</resource>
<request>
<method value="PUT"/>
<url value="Task/mii-exa-molgen-medikationsempfehlung-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-folgemassnahme-1"/>
<resource>
<Task>
<id value="mii-exa-molgen-folgemassnahme-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-folgemassnahme|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/followup-recommendation|3.0.0"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<basedOn>🔗
<reference value="ServiceRequest/mii-exa-molgen-anforderung-1"/>
</basedOn>
<status value="requested"/>
<intent value="proposal"/>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="LA14020-4"/>
<display value="Genetic counseling recommended"/>
</coding>
</code>
<description
value="Genetische Beratung empfohlen mit Dr. Rosalind Franklin"/>
<for>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</for>
<reasonReference>🔗
<reference
value="Observation/mii-exa-molgen-therapeutische-implikation-1"/>
</reasonReference>
</Task>
</resource>
<request>
<method value="PUT"/>
<url value="Task/mii-exa-molgen-folgemassnahme-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-family-member-history-1"/>
<resource>
<FamilyMemberHistory>
<id value="mii-exa-molgen-family-member-history-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/familienanamnese|2027.0.0-ballot.1"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="completed"/>
<patient>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</patient>
<date value="2022-04-07"/>
<relationship>
<coding>
<system value="http://snomed.info/sct"/>
<code value="72705000"/>
<display value="Mother (person)"/>
</coding>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/v3-RoleCode"/>
<code value="MTH"/>
<display value="mother"/>
</coding>
</relationship>
<sex>
<coding>
<system value="http://hl7.org/fhir/administrative-gender"/>
<code value="female"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="248152002"/>
<display value="Female (finding)"/>
</coding>
</sex>
<deceasedBoolean value="true"/>
<reasonCode>
<coding>
<system value="http://snomed.info/sct"/>
<code value="447886005"/>
<display value="Adenocarcinoma of anorectum (disorder)"/>
</coding>
</reasonCode>
<condition>
<code>
<coding>
<system value="http://snomed.info/sct"/>
<code value="830150003"/>
<display
value="Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder)"/>
</coding>
</code>
<contributedToDeath value="true"/>
</condition>
</FamilyMemberHistory>
</resource>
<request>
<method value="PUT"/>
<url
value="FamilyMemberHistory/mii-exa-molgen-family-member-history-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-1"/>
<resource>
<ServiceRequest>
<id value="mii-exa-molgen-anforderung-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2027.0.0-ballot.1"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="active"/>
<intent value="order"/>
<category>
<coding>
<system value="http://snomed.info/sct"/>
<code value="108252007"/>
<display value="Laboratory procedure (procedure)"/>
</coding>
</category>
<code>
<coding>
<system value="http://snomed.info/sct"/>
<code value="405825005"/>
<display value="Molecular genetic test (procedure)"/>
</coding>
<coding>
<system value="http://loinc.org"/>
<code value="53844-7"/>
<display
value="BRAF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method"/>
</coding>
<coding>
<system value="http://www.genenames.org/geneId"/>
<code value="HGNC:1097"/>
<display value="BRAF"/>
</coding>
<text value="BRAF: Exon 15 (Codon 600)"/>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<authoredOn value="2022-04-07"/>
<requester>🔗
<reference
value="Practitioner/mii-exa-molgen-practitioner-physician"/>
</requester>
<reasonCode>
<coding>
<system value="http://snomed.info/sct"/>
<code value="447886005"/>
<display value="Adenocarcinoma of anorectum (disorder)"/>
</coding>
</reasonCode>
<supportingInfo>🔗
<reference
value="FamilyMemberHistory/mii-exa-molgen-family-member-history-1"/>
</supportingInfo>
<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-1"/>
</specimen>
</ServiceRequest>
</resource>
<request>
<method value="PUT"/>
<url value="ServiceRequest/mii-exa-molgen-anforderung-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-patient"/>
<resource>
<Patient>
<id value="mii-exa-molgen-patient"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<identifier>
<use value="usual"/>
<type>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0203"/>
<code value="MR"/>
</coding>
</type>
<system
value="https://www.medizininformatik-initiative.de/fhir/sid/patienten"/>
<value value="42285243"/>
<assigner>
<identifier>
<system
value="https://www.medizininformatik-initiative.de/fhir/core/CodeSystem/core-location-identifier"/>
<value value="Charité"/>
</identifier>
<display value="Charité - Universitätsmedizin Berlin"/>
</assigner>
</identifier>
<identifier>
<use value="official"/>
<type>
<coding>
<system
value="http://fhir.de/CodeSystem/identifier-type-de-basis"/>
<code value="GKV"/>
</coding>
</type>
<system value="http://fhir.de/sid/gkv/kvid-10"/>
<value value="Z234567890"/>
<assigner>
<identifier>
<use value="official"/>
<system value="http://fhir.de/sid/arge-ik/iknr"/>
<value value="109519005"/>
</identifier>
</assigner>
</identifier>
<identifier>
<use value="secondary"/>
<type>
<coding>
<system
value="http://fhir.de/CodeSystem/identifier-type-de-basis"/>
<code value="PKV"/>
</coding>
</type>
<value value="123456"/>
<assigner>
<display value="Signal Iduna"/>
</assigner>
</identifier>
<name>
<use value="official"/>
<family value="Van-der-Dussen">
<extension
url="http://hl7.org/fhir/StructureDefinition/humanname-own-name">
<valueString value="Van-der-Dussen"/>
</extension>
</family>
<given value="Maja"/>
<given value="Julia"/>
<prefix value="Prof. Dr. med.">
<extension
url="http://hl7.org/fhir/StructureDefinition/iso21090-EN-qualifier">
<valueCode value="AC"/>
</extension>
</prefix>
</name>
<name>
<use value="maiden"/>
<family value="Haffer"/>
</name>
<gender value="female"/>
<birthDate value="1968-09-19"/>
<deceasedBoolean value="false"/>
<address>
<type value="both"/>
<line value="Anna-Louisa-Karsch Str. 2"/>
<city value="Berlin"/>
<state value="DE-BE"/>
<postalCode value="10178"/>
<country value="DE"/>
</address>
</Patient>
</resource>
<request>
<method value="PUT"/>
<url value="Patient/mii-exa-molgen-patient"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-practitioner-lab"/>
<resource>
<Practitioner>
<id value="mii-exa-molgen-practitioner-lab"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<active value="true"/>
<name>
<use value="official"/>
<text value="Dr. Daniel Schmidt"/>
<family value="Schmidt"/>
<given value="Daniel"/>
<prefix value="Dr."/>
</name>
</Practitioner>
</resource>
<request>
<method value="PUT"/>
<url value="Practitioner/mii-exa-molgen-practitioner-lab"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-specimen-1"/>
<resource>
<Specimen>
<id value="mii-exa-molgen-specimen-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-biobank/StructureDefinition/SpecimenCore"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<identifier>
<system value="https://biobank.uk-musterstadt.de/fhir/sid/proben"/>
<value value="5432"/>
</identifier>
<status value="available"/>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="128159001"/>
<display value="Tissue specimen from colon (specimen)"/>
</coding>
</type>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<collection>
<collectedDateTime value="2022-03-24T12:44:00+01:00"/>
<bodySite>
<coding>
<system value="http://snomed.info/sct"/>
<code value="71854001"/>
<display value="Colon structure (body structure)"/>
</coding>
</bodySite>
</collection>
</Specimen>
</resource>
<request>
<method value="PUT"/>
<url value="Specimen/mii-exa-molgen-specimen-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-1"/>
<resource>
<Observation>
<id value="mii-exa-molgen-diagnostische-implikation-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication|3.0.0"/>
</meta>
<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"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="diagnostic-implication"/>
<display value="Diagnostic Implication"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<effectiveDateTime value="2022-04-07"/>
<performer>🔗
<reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
</performer>
<derivedFrom>🔗
<reference value="Observation/mii-exa-molgen-variante-1"/>
</derivedFrom>
<component>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="conclusion-string"/>
</coding>
</code>
<valueString
value="Nachweis einer aktivierenden Mutation BRAF V600E"/>
</component>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-diagnostische-implikation-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-therapeutische-implikation-1"/>
<resource>
<Observation>
<id value="mii-exa-molgen-therapeutische-implikation-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/therapeutische-implikation|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication|3.0.0"/>
</meta>
<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"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="therapeutic-implication"/>
<display value="Therapeutic Implication"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<effectiveDateTime value="2022-04-07"/>
<performer>🔗
<reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
</performer>
<derivedFrom>🔗
<reference value="Observation/mii-exa-molgen-variante-1"/>
</derivedFrom>
<component>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="conclusion-string"/>
</coding>
</code>
<valueString
value="Nachweis einer aktivierenden Mutation BRAF V600E. Triple-Therapie mit einem EGFR-Antikörper sowie einem BRAF- und einem MEK- Inhibitor prüfen."/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51963-7"/>
<display value="Medication assessed [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.whocc.no/atc"/>
<code value="L01EC"/>
<display
value="B-Raf serine-threonine kinase (BRAF) inhibitors"/>
</coding>
<coding>
<system value="http://snomed.info/sct"/>
<code value="703645005"/>
<display value="Product containing B-Raf inhibitor (product)"/>
</coding>
<text value="BRAF Inhibitor"/>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51963-7"/>
<display value="Medication assessed [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.whocc.no/atc"/>
<code value="L01FE"/>
<display
value="EGFR (Epidermal Growth Factor Receptor) inhibitors"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51963-7"/>
<display value="Medication assessed [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.whocc.no/atc"/>
<code value="L01EE"/>
<display
value="Mitogen-activated protein kinase (MEK) inhibitors"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-therapeutische-implikation-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-1"/>
<resource>
<Observation>
<id value="mii-exa-molgen-variante-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<basedOn>🔗
<reference value="ServiceRequest/mii-exa-molgen-anforderung-1"/>
</basedOn>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic variant assessment"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<effectiveDateTime value="2022-04-07"/>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
</coding>
</method>
<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-1"/>
</specimen>
<device>🔗
<reference value="Device/mii-exa-molgen-device-sequencer"/>
</device>
<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:1097"/>
<display value="BRAF"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.ncbi.nlm.nih.gov/refseq"/>
<code value="NM_004333.4"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="47999-8"/>
<display value="DNA region name [Identifier]"/>
</coding>
</code>
<valueString value="Exon #15"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="47999-8"/>
<display value="DNA region name [Identifier]"/>
</coding>
</code>
<valueString value="Codon #582 - #612"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change (c.HGVS)"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://varnomen.hgvs.org"/>
<code value="NM_004333.4:c.1799T>A"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48005-3"/>
<display value="Amino acid change (pHGVS)"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://varnomen.hgvs.org"/>
<code value="p.(Val600Glu)"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81258-6"/>
<display value="Sample variant allelic frequency [NFr]"/>
</coding>
</code>
<valueQuantity>
<value value="30.25"/>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
</valueQuantity>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48001-2"/>
<display value="Cytogenetic (chromosome) location"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="urn:oid:2.16.840.1.113883.6.335"/>
<code value="7q34"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48019-4"/>
<display value="DNA change type"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://sequenceontology.org"/>
<code value="SO:1000008"/>
<display value="point_mutation"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81252-9"/>
<display value="Discrete genetic variant"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.ncbi.nlm.nih.gov/projects/SNP"/>
<code value="rs113488022"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-variante-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-genotyp-1"/>
<resource>
<Observation>
<id value="mii-exa-molgen-genotyp-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype|3.0.0"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="84413-4"/>
<display value="Genotype display name"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<effectiveDateTime value="2022-04-07"/>
<valueCodeableConcept>
<text value="BRAF rs113488022 T>A"/>
</valueCodeableConcept>
<method>
<coding>
<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
</coding>
</method>
<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-1"/>
</specimen>
<device>🔗
<reference value="Device/mii-exa-molgen-device-sequencer"/>
</device>
<derivedFrom>🔗
<reference value="Observation/mii-exa-molgen-variante-1"/>
</derivedFrom>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org/geneId"/>
<code value="HGNC:1097"/>
<display value="BRAF"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48001-2"/>
<display value="Cytogenetic (chromosome) location"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="urn:oid:2.16.840.1.113883.6.335"/>
<code value="7q34"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-genotyp-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-mutationslast-1"/>
<resource>
<Observation>
<id value="mii-exa-molgen-mutationslast-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mutationslast|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-biomarker|3.0.0"/>
</meta>
<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"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="biomarker-category"/>
<display
value="A characterization of a given biomarker observation."/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="94076-7"/>
<display value="Mutations/Megabase [# Ratio] in Tumor"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<performer>🔗
<reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
</performer>
<valueQuantity>
<value value="12"/>
<unit value="Mutations/Megabase"/>
<system value="http://unitsofmeasure.org"/>
<code value="1/1000000{Base}"/>
</valueQuantity>
<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-1"/>
</specimen>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-mutationslast-1"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer"/>
<resource>
<Device>
<id value="mii-exa-molgen-device-sequencer"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="active"/>
<manufacturer value="Illumina"/>
<deviceName>
<name value="MiSeq"/>
<type value="manufacturer-name"/>
</deviceName>
</Device>
</resource>
<request>
<method value="PUT"/>
<url value="Device/mii-exa-molgen-device-sequencer"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-physician"/>
<resource>
<Practitioner>
<id value="mii-exa-molgen-practitioner-physician"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<active value="true"/>
<name>
<use value="official"/>
<text value="Dr. Linda Rubens"/>
<family value="Rubens"/>
<given value="Linda"/>
<prefix value="Dr."/>
</name>
</Practitioner>
</resource>
<request>
<method value="PUT"/>
<url value="Practitioner/mii-exa-molgen-practitioner-physician"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-mikrosatelliteninstabilitaet-1"/>
<resource>
<Observation>
<id value="mii-exa-molgen-mikrosatelliteninstabilitaet-1"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mikrosatelliteninstabilitaet|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-biomarker|3.0.0"/>
</meta>
<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"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="biomarker-category"/>
<display
value="A characterization of a given biomarker observation."/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81695-9"/>
<display
value="Microsatellite instability [Interpretation] in Cancer specimen Qualitative"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient"/>
</subject>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA14122-8"/>
<display value="Stable"/>
</coding>
</valueCodeableConcept>
<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-1"/>
</specimen>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-mikrosatelliteninstabilitaet-1"/>
</request>
</entry>
</Bundle>