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

: mii-exa-befund-bundle-befund-srcc

Raw xml | Download


<Bundle xmlns="http://hl7.org/fhir">
  <id value="mii-exa-befund-bundle-befund-srcc"/>
  <language value="de"/>
  <type value="transaction"/>
  <timestamp value="2022-12-16T10:09:00+01:00"/>
  <entry>
    <fullUrl
             value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-patient-srcc"/>
    <resource>
      <Patient>
        <id value="mii-exa-molgen-patient-srcc"/>
        <language value="de"/>
        <text>
          <status value="generated"/>
        </text>
        <identifier>
          <use value="usual"/>
          <type>
            <coding>
              <system
                      value="http://terminology.hl7.org/CodeSystem/v3-ObservationValue"/>
              <code value="PSEUDED"/>
            </coding>
          </type>
          <system value="https://www.charite.de/fhir/sid/pseudonym"/>
          <value value="66036015"/>
        </identifier>
        <gender value="male"/>
        <birthDate value="1986-01"/>
        <deceasedBoolean value="false"/>
        <address>
          <type value="both"/>
          <postalCode value="10"/>
          <country value="DE"/>
        </address>
      </Patient>
    </resource>
    <request>
      <method value="PUT"/>
      <url value="Patient/mii-exa-molgen-patient-srcc"/>
    </request>
  </entry>
  <entry>
    <fullUrl
             value="https://www.medizininformatik-initiative.de/fhir/mii-exa-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/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-specimen-srcc"/>
    <resource>
      <Specimen>
        <id value="mii-exa-molgen-specimen-srcc"/>
        <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://www.charite.de/fhir/sid/bioproben"/>
          <value value="00070024"/>
        </identifier>
        <status value="available"/>
        <type>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="445295009"/>
            <display value="Blood specimen with edetic acid (specimen)"/>
          </coding>
        </type>
        <subject>🔗 
          <reference value="Patient/mii-exa-molgen-patient-srcc"/>
        </subject>
        <receivedTime value="2022-11-30"/>
        <collection>
          <collectedDateTime value="2022-11-30"/>
        </collection>
      </Specimen>
    </resource>
    <request>
      <method value="PUT"/>
      <url value="Specimen/mii-exa-molgen-specimen-srcc"/>
    </request>
  </entry>
  <entry>
    <fullUrl
             value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-specimen-srcc-2"/>
    <resource>
      <Specimen>
        <id value="mii-exa-molgen-specimen-srcc-2"/>
        <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://www.charite.de/fhir/sid/bioproben"/>
          <value value="00070025"/>
        </identifier>
        <status value="available"/>
        <type>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="445295009"/>
            <display value="Blood specimen with edetic acid (specimen)"/>
          </coding>
        </type>
        <subject>🔗 
          <reference value="Patient/mii-exa-molgen-patient-srcc"/>
        </subject>
        <receivedTime value="2022-11-30"/>
        <collection>
          <collectedDateTime value="2022-11-30"/>
        </collection>
      </Specimen>
    </resource>
    <request>
      <method value="PUT"/>
      <url value="Specimen/mii-exa-molgen-specimen-srcc-2"/>
    </request>
  </entry>
  <entry>
    <fullUrl
             value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-befundbericht-srcc"/>
    <resource>
      <DiagnosticReport>
        <id value="mii-exa-molgen-befundbericht-srcc"/>
        <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/StructureDefinition/workflow-supportingInfo">
          <valueReference>🔗 
            <reference
                       value="FamilyMemberHistory/mii-exa-molgen-family-member-history-srcc"/>
          </valueReference>
        </extension>
        <basedOn>🔗 
          <reference value="ServiceRequest/mii-exa-molgen-anforderung-srcc"/>
        </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-srcc"/>
        </subject>
        <performer>🔗 
          <reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
        </performer>
        <specimen>🔗 
          <reference value="Specimen/mii-exa-molgen-specimen-srcc"/>
        </specimen>
        <specimen>🔗 
          <reference value="Specimen/mii-exa-molgen-specimen-srcc-2"/>
        </specimen>
        <result>🔗 
          <reference
                     value="Observation/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"/>
        </result>
        <result>🔗 
          <reference value="Observation/mii-exa-molgen-variante-srcc-ctnna1"/>
        </result>
        <conclusion value="Nachweis der pathogenen Variante im CTNNA1-Gen."/>
      </DiagnosticReport>
    </resource>
    <request>
      <method value="PUT"/>
      <url value="DiagnosticReport/mii-exa-molgen-befundbericht-srcc"/>
    </request>
  </entry>
  <entry>
    <fullUrl
             value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-srcc"/>
    <resource>
      <ServiceRequest>
        <id value="mii-exa-molgen-anforderung-srcc"/>
        <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>
        <identifier>
          <system value="https://www.charite.de/fhir/auftragsnummern"/>
          <value value="7B369EB0"/>
        </identifier>
        <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>
          <text
                value="Molekulargenetische Untersuchung (Stufendiagnostik) der relevanten Gene"/>
        </code>
        <subject>🔗 
          <reference value="Patient/mii-exa-molgen-patient-srcc"/>
        </subject>
        <authoredOn value="2022-11-30"/>
        <requester>🔗 
          <reference
                     value="Practitioner/mii-exa-molgen-practitioner-physician"/>
        </requester>
        <reasonCode>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="87737001"/>
            <display value="Signet ring cell carcinoma"/>
          </coding>
          <coding>
            <system value="http://fhir.de/CodeSystem/bfarm/icd-10-gm"/>
            <version value="2024"/>
            <code value="C16.9"/>
            <display
                     value="Bösartige Neubildung: Magen, nicht näher bezeichnet"/>
          </coding>
          <text
                value="Eigenanamnese: Siegelringkarzinom des Magens, diffus wachsend"/>
        </reasonCode>
        <reasonCode>
          <coding>
            <system value="http://snomed.info/sct"/>
            <code value="429740004"/>
            <display
                     value="Family history of malignant neoplasm of breast (situation)"/>
          </coding>
          <text value="Mutter an Brustkrebs verstorben"/>
        </reasonCode>
        <specimen>🔗 
          <reference value="Specimen/mii-exa-molgen-specimen-srcc"/>
        </specimen>
      </ServiceRequest>
    </resource>
    <request>
      <method value="PUT"/>
      <url value="ServiceRequest/mii-exa-molgen-anforderung-srcc"/>
    </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-variante-srcc-ctnna1"/>
    <resource>
      <Observation>
        <id value="mii-exa-molgen-variante-srcc-ctnna1"/>
        <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-srcc"/>
        </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-srcc"/>
        </subject>
        <effectiveDateTime value="2022-11-30"/>
        <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-srcc"/>
        </specimen>
        <device>🔗 
          <reference value="Device/mii-exa-molgen-device-sequencer"/>
        </device>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48018-6"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://www.genenames.org/geneId"/>
              <code value="HGNC:2509"/>
              <display value="CTNNA1"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="51958-7"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://www.ncbi.nlm.nih.gov/refseq"/>
              <code value="NM_001903.5"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48004-6"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://varnomen.hgvs.org"/>
              <code value="NM_001903.5:c.1030del"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="81290-9"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://varnomen.hgvs.org"/>
              <code value="NC_000005.9:g.138163372del"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48013-7"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://www.ncbi.nlm.nih.gov/refseq"/>
              <code value="NC_000005.9"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48005-3"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://varnomen.hgvs.org"/>
              <code value="p.(Leu344CysfsTer25)"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="53034-5"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://loinc.org"/>
              <code value="LA6706-1"/>
              <display value="Heterozygous"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48019-4"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://sequenceontology.org"/>
              <code value="SO:0000159"/>
              <display value="Deletion"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="48001-2"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="urn:oid:2.16.840.1.113883.6.335"/>
              <code value="5q31.2"/>
            </coding>
          </valueCodeableConcept>
        </component>
      </Observation>
    </resource>
    <request>
      <method value="PUT"/>
      <url value="Observation/mii-exa-molgen-variante-srcc-ctnna1"/>
    </request>
  </entry>
  <entry>
    <fullUrl
             value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"/>
    <resource>
      <Observation>
        <id value="mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"/>
        <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="extensions"/>
        </text>
        <extension
                   url="http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact">
          <valueRelatedArtifact>
            <type value="citation"/>
            <citation value="ClinGen"/>
            <url
                 value="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509"/>
          </valueRelatedArtifact>
        </extension>
        <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-srcc"/>
        </subject>
        <effectiveDateTime value="2022-11-30"/>
        <performer>🔗 
          <reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
        </performer>
        <derivedFrom>🔗 
          <reference value="Observation/mii-exa-molgen-variante-srcc-ctnna1"/>
        </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="Diese Variante wird nach den ACMG/AMP-Kriterien zusammenfasssend als pathogen bewertet entsprechend IARC Class 5."/>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="53037-8"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://loinc.org"/>
              <code value="LA6668-3"/>
              <display value="Pathogenic"/>
            </coding>
          </valueCodeableConcept>
        </component>
        <component>
          <code>
            <coding>
              <system value="http://loinc.org"/>
              <code value="81259-4"/>
            </coding>
          </code>
          <valueCodeableConcept>
            <coding>
              <system value="http://snomed.info/sct"/>
              <code value="716859000"/>
              <display
                       value="Hereditary diffuse carcinoma of stomach (disorder)"/>
            </coding>
          </valueCodeableConcept>
        </component>
      </Observation>
    </resource>
    <request>
      <method value="PUT"/>
      <url
           value="Observation/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"/>
    </request>
  </entry>
</Bundle>