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Template Genetischer Befundbericht 2018‑08‑09 17:52:59

Id2.16.840.1.113883.2.6.60.13.10.1Gültigkeit ab2018‑08‑09 17:52:59
Statusdraft EntwurfVersions-Label
NameGenetischerBefundberichtBezeichnungGenetischer Befundbericht
Beschreibung
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.1
KlassifikationCDA Document Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 15 Konzepte
IdNameDatensatz
genea-dataelement-1.1020draft Name draft GENeALYSE Datensatz
genea-dataelement-1.1030draft Titel draft GENeALYSE Datensatz
genea-dataelement-1.1040draft Nachname draft GENeALYSE Datensatz
genea-dataelement-1.1050draft Zuname draft GENeALYSE Datensatz
genea-dataelement-1.1060draft Vorname draft GENeALYSE Datensatz
genea-dataelement-1.1000draft Patient draft GENeALYSE Datensatz
genea-dataelement-1.1070draft Geschlecht draft GENeALYSE Datensatz
genea-dataelement-1.1080draft Ethnie draft GENeALYSE Datensatz
genea-dataelement-1.1090draft Geburtsdatum draft GENeALYSE Datensatz
genea-dataelement-1.1100draft Adresse draft GENeALYSE Datensatz
genea-dataelement-1.1160draft Kontaktdaten draft GENeALYSE Datensatz
genea-dataelement-1.6140draft Labor / Institution/ Ansprechpartner draft GENeALYSE Datensatz
genea-dataelement-1.2270draft Anforderung draft GENeALYSE Datensatz
genea-dataelement-1.2130draft Anforderung durch draft GENeALYSE Datensatz
genea-dataelement-1.6120draft Zeitstempel draft GENeALYSE Datensatz
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Benutzt als NameVersion
1.2.276.0.76.10.2001Inklusionactive CDA recordTargetDYNAMIC
1.2.276.0.76.10.2004Inklusionactive CDA custodianDYNAMIC
1.2.276.0.76.10.2005Inklusionactive CDA informationRecipientDYNAMIC
1.2.276.0.76.10.2007Inklusionactive CDA author PersonDYNAMIC
1.2.276.0.76.10.2011Inklusiondraft CDA participant NotfallkontaktDYNAMIC
1.2.276.0.76.10.2012Inklusiondraft CDA participant HausarztDYNAMIC
1.2.276.0.76.10.2015Inklusiondraft AuftragsidentifikationDYNAMIC
1.2.276.0.76.10.2017Inklusiondraft CDA dataEntererDYNAMIC
1.2.276.0.76.10.2018Inklusiondraft CDA InformantDYNAMIC
1.2.276.0.76.10.2019Inklusionactive CDA authenticatorDYNAMIC
1.2.276.0.76.10.2020Inklusiondraft CDA legalAuthenticatorDYNAMIC
1.2.276.0.76.10.2021Inklusiondraft CDA participant AngehörigeDYNAMIC
1.2.276.0.76.10.2022Inklusionactive CDA participant KostentraegerDYNAMIC
1.2.276.0.76.10.2023Inklusiondraft CDA participant EinweiserDYNAMIC
1.2.276.0.76.10.2024Inklusionactive CDA participant Weitere BeteiligteDYNAMIC
1.2.276.0.76.10.2025Inklusiondraft CDA participant AnsprechpartnerDYNAMIC
1.2.276.0.76.10.2026Inklusiondraft CDA participant BetreuungsorganisationDYNAMIC
1.2.276.0.76.10.2027Inklusionreview CDA encompassingEncounter Patientenkontakt (1.1)DYNAMIC
1.3.6.1.4.1.19376.1.3.3.1.6Inklusionactive Ordering Provider (2017)DYNAMIC
2.16.840.1.113883.2.6.60.13.10.13Containmentdraft Zusammenfassung SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.18Containmentdraft Testdetails SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.19Containmentdraft Testinformationen SectionDYNAMIC
BeziehungAdaptation: Template 2.16.840.1.113883.10.20.20 Genetic Testing Report (2013‑02‑01)
ref
gtr-

Spezialisierung: Template 2.16.840.1.113883.10.12.2 CDA ClinicalDocument (with StructuredBody) (2005‑09‑07)
ref
ad1bbr-
Beispiel
Beispiel
<ClinicalDocument xsi:schemaLocation="urn:hl7-org:v3 CDA.xsd">
  <!--
********************************************************
CDA Header
********************************************************
-->
  <hl7:typeId root="2.16.840.1.113883.1.3" extension="POCD_HD000040"/>  <hl7:templateId root="2.16.840.1.113883.10.20.20"/>  <hl7:id extension="c266" root="2.16.840.1.113883.18.12.7.30.9.1"/>  <hl7:code code="51969-4" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic analysis summary report"/>  <hl7:title>Hearing Loss: Connexin 26 and 30 Full Gene Sequencing Panel Test Report</hl7:title>  <hl7:effectiveTime value="20100809"/>  <hl7:confidentialityCode code="R" codeSystem="2.16.840.1.113883.5.25"/>  <hl7:languageCode code="en-US"/>  <hl7:setId extension="BB35" root="2.16.840.1.113883.19.7"/>  <hl7:versionNumber value="1"/>  <hl7:recordTarget>
    <hl7:patientRole>
      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2" extension="123456789"/>      <hl7:patient>
        <hl7:name use="L">
          <hl7:given>John</hl7:given>          <hl7:given>Q.</hl7:given>          <hl7:family>Doe</hl7:family>        </hl7:name>        <hl7:administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1" codeSystemName="AdministrativeGender" displayName="Male"/>        <hl7:birthTime value="19470505"/>      </hl7:patient>      <hl7:providerOrganization>
        <hl7:id root="2.16.840.1.113883.19.3.2409"/>        <hl7:name>The New Hospital</hl7:name>      </hl7:providerOrganization>    </hl7:patientRole>  </hl7:recordTarget>  <hl7:author>
    <!-- AUT = the report writer -->
    <hl7:functionCode code="AUT" displayName="author (originator)"/>    <hl7:time/>    <hl7:assignedAuthor>
      <!-- id identifies the person in that role within the organization -->
      <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="author123"/>      <!-- the code GEN will be proposed to be added to the HL7 RoleCode
vocabulry representing a Geneticist-->
      <hl7:code code="GEN" displayName="Geneticist" nullFlavor="OTH"/>      <hl7:assignedPerson>
        <hl7:name>Jean Geome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>
        <hl7:id root="2.16.840.1.113883.19.3.2409" extension="2DD1005307"/>      </hl7:representedOrganization>    </hl7:assignedAuthor>  </hl7:author>  <!-- custodian is the legal record keeper for this document-->
  <hl7:custodian>
    <hl7:assignedCustodian>
      <hl7:representedCustodianOrganization>
        <hl7:id root="2.16.840.1.113883.19.3.2409"/>      </hl7:representedCustodianOrganization>    </hl7:assignedCustodian>  </hl7:custodian>  <!-- even if the legal authenticator is the same person as the author, it
needs the construct below which also has the signature code element-->
  <hl7:legalAuthenticator>
    <hl7:time value="20060212"/>    <hl7:signatureCode code="S"/>    <hl7:assignedEntity>
      <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="ABCD191928-1" displayable="true"/>      <hl7:code code="AUT" displayName="Author"/>      <hl7:assignedPerson>
        <hl7:name>Jean Legal Genome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>
        <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="2DD1005307" displayable="true"/>        <hl7:name>The New Genetic Testing Laboratory of the New Hospital</hl7:name>      </hl7:representedOrganization>    </hl7:assignedEntity>  </hl7:legalAuthenticator>  <!-- the "documentationOf" element is a pointer to the 'genetic testing
service' which this document summarizes;
The id attribute can hold for example the genetic lab accesssion number -->
  <hl7:documentationOf>
    <hl7:serviceEvent>
      <hl7:id root="2.16.840.1.113883.19.3.2409" extension="ABCD-1234"/>      <hl7:performer typeCode="PRF">
        <hl7:assignedEntity>
          <hl7:id root="2.16.840.1.113883.19.3.2409.123"/>          <hl7:representedOrganization>
            <hl7:name>The New Genetic Testing Laboratory the New Hospital</hl7:name>          </hl7:representedOrganization>        </hl7:assignedEntity>      </hl7:performer>    </hl7:serviceEvent>  </hl7:documentationOf>  <!--
********************************************************
CDA Body
********************************************************
-->
  <hl7:component>
    <hl7:structuredBody>
      <!--
********************************************************************
Summary Section
********************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1"/>          <hl7:title>Summary</hl7:title>          <!--
********************************************************************
Indications Section
********************************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.11"/>              <hl7:title>Indications</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a2">Indication: Profound sensorineural hearing loss</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="COND" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>                  <hl7:value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">
                    <hl7:originalText>
                      <hl7:reference value="#a2"/>                    </hl7:originalText>                  </hl7:value>                  <!-- the following reference could point to the full description of
the disease if residing in the patient records -->
                  <hl7:reference typeCode="XCRPT">
                    <hl7:externalObservation>
                      <hl7:id root="2.16.840.1.113883.19.1.2765"/>                    </hl7:externalObservation>                  </hl7:reference>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!--
********************************************************************
Summary of Tests Performed
********************************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.6"/>              <hl7:title>Summary of Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a1">
GJB2 Full Gene Test
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content ID="a5">
GJB6-D13S1830 deletion
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content ID="a3">
Mitochondrial Hearing Loss Mutation Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
**************************************
Overall Interpretation section
**************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.1"/>              <hl7:title>Overall Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content styleCode="Bold">Inconclusive.</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
DNA sequencing detected two changes in the GJB2 gene, 79G>A
(V27I) and 109G>A (V37I). The V27I change has been reported as a benign
variant (references) and is not believed to cause hearing loss. The V37I
mutation has been previously reported in patients with hearing loss. This
mutation, in homozygosity or combined with another GJB2 disease causing
mutation, typically results in a mild to moderate hearing loss (Cryns
et al. 2005). Mutations in both copies of the GJB2 gene are necessary
to assume that GJB2 is responsible for the hearing loss. Although two
mutations were identified in this patient, we would assume that the
combination of a benign variant and a mild pathogenic mutation would result
in a mild to moderate hearing loss rather than a moderately-severe one, as
in this patient. It is most likely that the hearing loss in this patient is
the result of the V37I mutation and an unknown second pathogenic mutation.
It should be noted that a second mutation is not identified in a large
percentage (10-50%) of patients with nonsyndromic hearing loss and GJB2
mutations (del Castillo et al. 2003).
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-D13S1830
region of chromosome 13 was performed and did not detect the deletion.
This test does not assess the DNA sequence of the GJB6 gene or detect other
mutations that could affect the expression of the gene.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss mutations: Targeted bidirectional
sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the
presence of these mutations.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.4"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>                  <hl7:code code="55232-3" codeSystemName="LOINC" displayName="Genetic analysis summary panel"/>                  <hl7:statusCode code="completed"/>                  <hl7:entryRelationship typeCode="SUBJ">
                    <!-- Genomic observation battery (references only) -->
                    <hl7:organizer classCode="BATTERY" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.5.1"/>                      <hl7:statusCode code="completed"/>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                    </hl7:organizer>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="RSON">
                    <hl7:observation classCode="COND" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="SPRT">
                    <hl7:observation classCode="OBS" moodCode="DEF">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.5"/>                      <hl7:code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>                      <hl7:statusCode code="completed"/>                      <hl7:effectiveTime value="200512011500"/>                      <hl7:value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>                      <!-- this is an example of how it is possible to override the
header performer with a different performer, in this case of the analysis
that led to the overall interpretation-->
                      <hl7:performer typeCode="PRF">
                        <hl7:assignedEntity>
                          <hl7:id root="2.16.840.1.113883.19.3.2409.345"/>                          <hl7:representedOrganization>
                            <hl7:name>The New Genetic Testing Analysis Service</hl7:name>                          </hl7:representedOrganization>                        </hl7:assignedEntity>                      </hl7:performer>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!--
********************************************************
Recommendations section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.5"/>              <hl7:title>Recommendations</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Although some cases may represent a coincidental carrier state, all of the
studies have concluded that there are likely to be other genetic mutations
that have not yet been identified. Genetic counseling is recommended for
this patient and his/her family members.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
********************************************************************
Specimen Section
********************************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.7"/>              <hl7:title>Specimen and Genomic Source Class</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>Peripheral Blood</hl7:item>                  <hl7:item>Genomic source class: Germline</hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.2"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>                  <hl7:value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>                  <hl7:specimen>
                    <hl7:templateId root="2.16.840.1.113883.10.20.20.3.1"/>                    <hl7:specimenRole>
                      <hl7:specimenPlayingEntity>
                        <hl7:code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>                      </hl7:specimenPlayingEntity>                    </hl7:specimenRole>                  </hl7:specimen>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
********************************************************************
Genetic Variations Section: Connexin 26 Full Gene Test
********************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.8"/>          <hl7:title>Genetic Variations</hl7:title>          <!-- Structured representation of: Homozygous 109G>A (V37I), Exon 2,
GJB2, Pathogenic -->
          <hl7:entry>
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName="DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.5"/>                  <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HGNC"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.8"/>                  <hl7:code code="48013-7" codeSystemName="LOINC" displayName="Genomic Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NC_000013.10" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>                  <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.7"/>                  <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs72474224" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2"/>                  <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2.1"/>                  <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1"/>                  <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val37Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1.1"/>                  <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.3"/>                  <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.4"/>                  <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6705-3" codeSystemName="LOINC" displayName="Homozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation
testing-->
              <hl7:entryRelationship typeCode="RSON">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation (should consider if
MFST=manifistation as the code here) -->
              <hl7:entryRelationship typeCode="SPRT">
                <hl7:observation classCode="OBS" moodCode="DEF">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6668-3" codeSystemName="LOINC" displayName="Pathogenic"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <!-- Structured representation of: Heterozygous 79G>A (V27I), Exon 2,
GJB2, Benign-->
          <hl7:entry>
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName=" DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HUGO"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs2274084" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="79G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val27Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6706-1" codeSystemName="LOINC" displayName="Heterozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation
testing-->
              <hl7:entryRelationship typeCode="RSON">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation-->
              <hl7:entryRelationship typeCode="SPRT">
                <hl7:observation classCode="OBS" moodCode="DEF">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6675-8" codeSystemName="LOINC" displayName="Benign"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB2 Full Gene Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="CX26FULL" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 26 Full Gene Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <hl7:originalText>
                      <hl7:reference value="#a1"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">
                    <hl7:observation classCode="COND" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the
test-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>Mutations interpretation</hl7:content>                    <hl7:list>
                      <hl7:item>
                        <hl7:content>V37I - Pathogenic</hl7:content>                      </hl7:item>                      <hl7:item>
                        <hl7:content>V27I - Benign</hl7:content>                      </hl7:item>                    </hl7:list>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Details: DNA sequencing detected two mutations in the GJB2 gene, 79G>A
(V27I) and 109G>A (V37I). The V27I mutation has been reported as a benign
variant (references) and is not believed to cause hearing loss. The V37I
mutation has been previously reported in patients with hearing loss. This
mutation, in homozygosity or combined with another GJB2 disease causing
mutation, typically results in a mild to moderate hearing loss (Cryns
et al. 2005). Mutations in both copies of the GJB2 gene are necessary
to assume that GJB2 is responsible for the hearing loss. Although two
mutations were identified in this patient, we would assume that the
combination of a benign variant and a mild pathogenic mutation would result
in a mild to moderate hearing loss rather than a moderately-severe one, as
in this patient. It is most likely that the hearing loss in this patient is
the result of the V37I mutation and an unknown second pathogenic mutation.
It should be noted that a second mutation is not identified in a large
percentage (10-50%) of patients with nonsyndromic hearing loss and GJB2
mutations (del Castillo et al. 2003).
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
********************************************************************
Genetic Variations Section: Connexin 30 Deletion Test
********************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>
            <!-- The core genomic observation (the 'finding')-->
            <hl7:observation classCode="COND" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>              <hl7:code code="51959-5" displayName="DNA region of interest"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="GJB6-D13S1830"/>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="COMP">
                <!-- negationInd is set to "true" to signify that the deletion of
the DNA region at stake was not found-->
                <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <hl7:code code="48019-4" displayName="DNA Sequence Variation type"/>                  <hl7:value xsi:type="CD" code="LA6692-3" displayName="Deletion"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="RSON">
                <hl7:observation classCode="COND" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the indication for the
test-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 30 Deletion Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <hl7:originalText>
                      <hl7:reference value="#a5"/>                    </hl7:originalText>                  </hl7:value>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-
D13S1830 region of chromosome 13 was performed and did not detect the
deletion. This test does not assess the DNA sequence of the GJB6 gene or
detect other mutations that could affect the expression of the gene.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
*******************************************************************************
Genetic Variations Section: Mitochondrial Hearing Loss Genes Test
*******************************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>
            <!-- The core genomic observation (the 'finding')-->
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>              <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTTS1"/>              <hl7:entryRelationship typeCode="COMP">
                <!-- no mutations were found-->
                <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">
                    <hl7:observation classCode="OBS" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:entry>
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTRNR1"/>              <hl7:entryRelationship typeCode="COMP">
                <!-- no mutations were found-->
                <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">
                    <hl7:observation classCode="OBS" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss Genes Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="MTTS1 and MTRNR1 Genes Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <hl7:originalText>
                      <hl7:reference value="#a3"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">
                    <hl7:observation classCode="COND" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the
test-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA sequencing did not detect the presence of any mutations in
the MTTS1 and MTRNR1 genes.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
********************************************************
Test Information section
********************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9"/>          <hl7:title>Test Information</hl7:title>          <!--
********************************************************
Background section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>              <hl7:title>Background</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Mutations in the GJB2 (connexin 26) gene are the most common cause of
non syndromic hearing loss and are most often seen in a person with
hearing loss that was found in early childhood without any other medical
problems. The severity of the hearing loss can range from mild to profound.
The inheritance pattern is usually autosomal recessive, requiring two
mutations, one in each copy of the gene, to cause hearing loss. The GJB6-
D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin
30 protein (Cx30). This deletion, when present in two copies or when
combined with a single connexin 26 mutation, causes hearing loss. Although
the frequency of mitochondrial hearing loss is unknown, studies suggest
that mitochondrial mutations play an important role in inherited and
acquired hearing impairment.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
********************************************************
Methodology section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>              <hl7:title>Methodology</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are
amplified using flanking primer sets. PCR products are sequenced using
an ABI fluorescence automatic DNA sequencer. This test does not detect
large deletions or mutations in non-coding regions that could affect
gene expression. This assay is greater than 99.9% accurate in detecting
mutations in the sequences analyzed. Polymerase chain reaction (PCR)
analysis is performed to detect the presence or absence of a deletion
spanning the GJB6-D13S1830 region of chromosome 13.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
********************************************************
References section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>              <hl7:title>References</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del
Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing
allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness
Homepage. http://www.crg.es/deafness.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S,
Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E,
Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich
D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL,
Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and
evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus
in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73:
1452-1458.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling
WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal
recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in
patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg.
2001 Sep;127(9):1037-42.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants
and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med.
2002;4(4): 258-74.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated
with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz
M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British
Asian families. J Med Genet. 2001 Aug;38(8):530-3.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1
(Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics
Information Resource (database online). http://www.genetests.org.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J,
Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P,
Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR,
Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin
M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz
M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M,
Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F,
Mondain M, Hoefsloot, LH Cremers CWRJ, Löppönen T, Löppönen H, Parving A,
Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G,
Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P,
Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation
for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>    </hl7:structuredBody>  </hl7:component></ClinicalDocument>
Beispiel
Beispiel
<ClinicalDocument xsi:schemaLocation="urn:hl7-org:v3 CDA.xsd">
  <!--
********************************************************
CDA Header
********************************************************
-->
  <hl7:typeId root="2.16.840.1.113883.1.3" extension="POCD_HD000040"/>  <hl7:templateId root="2.16.840.1.113883.10.20.20"/>  <hl7:id extension="c266" root="2.16.840.1.113883.18.12.7.30.9.1"/>  <hl7:code code="51969-4" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic analysis summary report"/>  <hl7:title>Hearing Loss: Connexin 26 and 30 Full Gene Sequencing Panel Test Report</hl7:title>  <hl7:effectiveTime value="20100809"/>  <hl7:confidentialityCode code="R" codeSystem="2.16.840.1.113883.5.25"/>  <hl7:languageCode code="en-US"/>  <hl7:setId extension="BB35" root="2.16.840.1.113883.19.7"/>  <hl7:versionNumber value="1"/>  <recordTarget typeCode="RCT" contextControlCode="OP">
    <patientRole classCode="PAT">
      <id root="2.16.840.1.113883.3.37.6.2.23.3" extension="12345"/>      <addr use="HP">
        <streetName>Musterstraße</streetName>        <houseNumber>15</houseNumber>        <postalCode>50825</postalCode>        <city>Köln</city>      </addr>      <telecom use="HP" value="tel:+49(221)7812220"/>      <patient classCode="PSN" determinerCode="INSTANCE">
        <name>
          <given>Marie</given>          <family>Müller</family>        </name>        <administrativeGenderCode code="F" codeSystem="2.16.840.1.113883.5.1"/>        <birthTime value="19700924"/>        <birthplace>
          <place>
            <addr>
              <city>Köln</city>            </addr>          </place>        </birthplace>      </patient>    </patientRole>  </recordTarget>  <hl7:author>
    <!-- AUT = the report writer -->
    <hl7:functionCode code="AUT" displayName="author (originator)"/>    <hl7:time/>    <hl7:assignedAuthor>
      <!-- id identifies the person in that role within the organization -->
      <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="author123"/>      <!-- the code GEN will be proposed to be added to the HL7 RoleCode
vocabulry representing a Geneticist-->
      <hl7:code code="GEN" displayName="Geneticist" nullFlavor="OTH"/>      <hl7:assignedPerson>
        <hl7:name>Jean Geome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>
        <hl7:id root="2.16.840.1.113883.19.3.2409" extension="2DD1005307"/>      </hl7:representedOrganization>    </hl7:assignedAuthor>  </hl7:author>  <!-- custodian is the legal record keeper for this document-->
  <hl7:custodian>
    <hl7:assignedCustodian>
      <hl7:representedCustodianOrganization>
        <hl7:id root="2.16.840.1.113883.19.3.2409"/>      </hl7:representedCustodianOrganization>    </hl7:assignedCustodian>  </hl7:custodian>  <!-- even if the legal authenticator is the same person as the author, it
needs the construct below which also has the signature code element-->
  <hl7:legalAuthenticator>
    <hl7:time value="20060212"/>    <hl7:signatureCode code="S"/>    <hl7:assignedEntity>
      <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="ABCD191928-1" displayable="true"/>      <hl7:code code="AUT" displayName="Author"/>      <hl7:assignedPerson>
        <hl7:name>Jean Legal Genome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>
        <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="2DD1005307" displayable="true"/>        <hl7:name>The New Genetic Testing Laboratory of the New Hospital</hl7:name>      </hl7:representedOrganization>    </hl7:assignedEntity>  </hl7:legalAuthenticator>  <!-- the "documentationOf" element is a pointer to the 'genetic testing
service' which this document summarizes;
The id attribute can hold for example the genetic lab accesssion number -->
  <hl7:documentationOf>
    <hl7:serviceEvent>
      <hl7:id root="2.16.840.1.113883.19.3.2409" extension="ABCD-1234"/>      <hl7:performer typeCode="PRF">
        <hl7:assignedEntity>
          <hl7:id root="2.16.840.1.113883.19.3.2409.123"/>          <hl7:representedOrganization>
            <hl7:name>The New Genetic Testing Laboratory the New Hospital</hl7:name>          </hl7:representedOrganization>        </hl7:assignedEntity>      </hl7:performer>    </hl7:serviceEvent>  </hl7:documentationOf>  <!--
********************************************************
CDA Body
********************************************************
-->
  <hl7:component>
    <hl7:structuredBody>
      <!--
********************************************************************
Summary Section
********************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1"/>          <hl7:title>Summary</hl7:title>          <!--
********************************************************************
Indications Section
********************************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.11"/>              <hl7:title>Indications</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a2">Indication: Profound sensorineural hearing loss</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="COND" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>                  <hl7:value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">
                    <hl7:originalText>
                      <hl7:reference value="#a2"/>                    </hl7:originalText>                  </hl7:value>                  <!-- the following reference could point to the full description of
the disease if residing in the patient records -->
                  <hl7:reference typeCode="XCRPT">
                    <hl7:externalObservation>
                      <hl7:id root="2.16.840.1.113883.19.1.2765"/>                    </hl7:externalObservation>                  </hl7:reference>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!--
********************************************************************
Summary of Tests Performed
********************************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.6"/>              <hl7:title>Summary of Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a1">
GJB2 Full Gene Test
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content ID="a5">
GJB6-D13S1830 deletion
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content ID="a3">
Mitochondrial Hearing Loss Mutation Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
**************************************
Overall Interpretation section
**************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.1"/>              <hl7:title>Overall Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content styleCode="Bold">Inconclusive.</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
DNA sequencing detected two changes in the GJB2 gene, 79G>A
(V27I) and 109G>A (V37I). The V27I change has been reported as a benign
variant (references) and is not believed to cause hearing loss. The V37I
mutation has been previously reported in patients with hearing loss. This
mutation, in homozygosity or combined with another GJB2 disease causing
mutation, typically results in a mild to moderate hearing loss (Cryns
et al. 2005). Mutations in both copies of the GJB2 gene are necessary
to assume that GJB2 is responsible for the hearing loss. Although two
mutations were identified in this patient, we would assume that the
combination of a benign variant and a mild pathogenic mutation would result
in a mild to moderate hearing loss rather than a moderately-severe one, as
in this patient. It is most likely that the hearing loss in this patient is
the result of the V37I mutation and an unknown second pathogenic mutation.
It should be noted that a second mutation is not identified in a large
percentage (10-50%) of patients with nonsyndromic hearing loss and GJB2
mutations (del Castillo et al. 2003).
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-D13S1830
region of chromosome 13 was performed and did not detect the deletion.
This test does not assess the DNA sequence of the GJB6 gene or detect other
mutations that could affect the expression of the gene.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss mutations: Targeted bidirectional
sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the
presence of these mutations.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.4"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>                  <hl7:code code="55232-3" codeSystemName="LOINC" displayName="Genetic analysis summary panel"/>                  <hl7:statusCode code="completed"/>                  <hl7:entryRelationship typeCode="SUBJ">
                    <!-- Genomic observation battery (references only) -->
                    <hl7:organizer classCode="BATTERY" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.5.1"/>                      <hl7:statusCode code="completed"/>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>
                        <!-- reference to the actual finding-->
                        <hl7:observation classCode="OBS" moodCode="EVN">
                          <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                    </hl7:organizer>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="RSON">
                    <hl7:observation classCode="COND" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="SPRT">
                    <hl7:observation classCode="OBS" moodCode="DEF">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.5"/>                      <hl7:code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>                      <hl7:statusCode code="completed"/>                      <hl7:effectiveTime value="200512011500"/>                      <hl7:value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>                      <!-- this is an example of how it is possible to override the
header performer with a different performer, in this case of the analysis
that led to the overall interpretation-->
                      <hl7:performer typeCode="PRF">
                        <hl7:assignedEntity>
                          <hl7:id root="2.16.840.1.113883.19.3.2409.345"/>                          <hl7:representedOrganization>
                            <hl7:name>The New Genetic Testing Analysis Service</hl7:name>                          </hl7:representedOrganization>                        </hl7:assignedEntity>                      </hl7:performer>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!--
********************************************************
Recommendations section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.5"/>              <hl7:title>Recommendations</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Although some cases may represent a coincidental carrier state, all of the
studies have concluded that there are likely to be other genetic mutations
that have not yet been identified. Genetic counseling is recommended for
this patient and his/her family members.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
********************************************************************
Specimen Section
********************************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.7"/>              <hl7:title>Specimen and Genomic Source Class</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>Peripheral Blood</hl7:item>                  <hl7:item>Genomic source class: Germline</hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.2"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>                  <hl7:value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>                  <hl7:specimen>
                    <hl7:templateId root="2.16.840.1.113883.10.20.20.3.1"/>                    <hl7:specimenRole>
                      <hl7:specimenPlayingEntity>
                        <hl7:code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>                      </hl7:specimenPlayingEntity>                    </hl7:specimenRole>                  </hl7:specimen>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
********************************************************************
Genetic Variations Section: Connexin 26 Full Gene Test
********************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.8"/>          <hl7:title>Genetic Variations</hl7:title>          <!-- Structured representation of: Homozygous 109G>A (V37I), Exon 2,
GJB2, Pathogenic -->
          <hl7:entry>
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName="DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.5"/>                  <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HGNC"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.8"/>                  <hl7:code code="48013-7" codeSystemName="LOINC" displayName="Genomic Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NC_000013.10" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>                  <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.7"/>                  <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs72474224" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2"/>                  <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2.1"/>                  <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1"/>                  <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val37Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1.1"/>                  <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.3"/>                  <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.4"/>                  <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6705-3" codeSystemName="LOINC" displayName="Homozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation
testing-->
              <hl7:entryRelationship typeCode="RSON">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation (should consider if
MFST=manifistation as the code here) -->
              <hl7:entryRelationship typeCode="SPRT">
                <hl7:observation classCode="OBS" moodCode="DEF">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6668-3" codeSystemName="LOINC" displayName="Pathogenic"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <!-- Structured representation of: Heterozygous 79G>A (V27I), Exon 2,
GJB2, Benign-->
          <hl7:entry>
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName=" DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HUGO"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs2274084" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="79G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val27Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6706-1" codeSystemName="LOINC" displayName="Heterozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation
testing-->
              <hl7:entryRelationship typeCode="RSON">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation-->
              <hl7:entryRelationship typeCode="SPRT">
                <hl7:observation classCode="OBS" moodCode="DEF">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6675-8" codeSystemName="LOINC" displayName="Benign"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB2 Full Gene Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="CX26FULL" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 26 Full Gene Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <hl7:originalText>
                      <hl7:reference value="#a1"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">
                    <hl7:observation classCode="COND" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the
test-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>Mutations interpretation</hl7:content>                    <hl7:list>
                      <hl7:item>
                        <hl7:content>V37I - Pathogenic</hl7:content>                      </hl7:item>                      <hl7:item>
                        <hl7:content>V27I - Benign</hl7:content>                      </hl7:item>                    </hl7:list>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Details: DNA sequencing detected two mutations in the GJB2 gene, 79G>A
(V27I) and 109G>A (V37I). The V27I mutation has been reported as a benign
variant (references) and is not believed to cause hearing loss. The V37I
mutation has been previously reported in patients with hearing loss. This
mutation, in homozygosity or combined with another GJB2 disease causing
mutation, typically results in a mild to moderate hearing loss (Cryns
et al. 2005). Mutations in both copies of the GJB2 gene are necessary
to assume that GJB2 is responsible for the hearing loss. Although two
mutations were identified in this patient, we would assume that the
combination of a benign variant and a mild pathogenic mutation would result
in a mild to moderate hearing loss rather than a moderately-severe one, as
in this patient. It is most likely that the hearing loss in this patient is
the result of the V37I mutation and an unknown second pathogenic mutation.
It should be noted that a second mutation is not identified in a large
percentage (10-50%) of patients with nonsyndromic hearing loss and GJB2
mutations (del Castillo et al. 2003).
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
********************************************************************
Genetic Variations Section: Connexin 30 Deletion Test
********************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>
            <!-- The core genomic observation (the 'finding')-->
            <hl7:observation classCode="COND" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>              <hl7:code code="51959-5" displayName="DNA region of interest"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="GJB6-D13S1830"/>              <hl7:entryRelationship typeCode="SUBJ">
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="COMP">
                <!-- negationInd is set to "true" to signify that the deletion of
the DNA region at stake was not found-->
                <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <hl7:code code="48019-4" displayName="DNA Sequence Variation type"/>                  <hl7:value xsi:type="CD" code="LA6692-3" displayName="Deletion"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="RSON">
                <hl7:observation classCode="COND" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the indication for the
test-->
                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 30 Deletion Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <hl7:originalText>
                      <hl7:reference value="#a5"/>                    </hl7:originalText>                  </hl7:value>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-
D13S1830 region of chromosome 13 was performed and did not detect the
deletion. This test does not assess the DNA sequence of the GJB6 gene or
detect other mutations that could affect the expression of the gene.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
*******************************************************************************
Genetic Variations Section: Mitochondrial Hearing Loss Genes Test
*******************************************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>
            <!-- The core genomic observation (the 'finding')-->
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>              <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTTS1"/>              <hl7:entryRelationship typeCode="COMP">
                <!-- no mutations were found-->
                <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">
                    <hl7:observation classCode="OBS" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:entry>
            <hl7:observation classCode="OBS" moodCode="EVN">
              <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTRNR1"/>              <hl7:entryRelationship typeCode="COMP">
                <!-- no mutations were found-->
                <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">
                  <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">
                    <hl7:observation classCode="OBS" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries
within the Specimen section, representing the genomic source class and
specimen-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss Genes Test
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>              <hl7:entry>
                <hl7:observation classCode="OBS" moodCode="EVN">
                  <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="MTTS1 and MTRNR1 Genes Test">
                    <!-- the original text allows us to point back to the narrative
(any specific piece of it using the nesting content element as an anchor)
-->
                    <hl7:originalText>
                      <hl7:reference value="#a3"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">
                    <hl7:observation classCode="COND" moodCode="EVN">
                      <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the
test-->
                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA sequencing did not detect the presence of any mutations in
the MTTS1 and MTRNR1 genes.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!--
********************************************************
Test Information section
********************************************************
-->
      <hl7:component>
        <hl7:section>
          <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9"/>          <hl7:title>Test Information</hl7:title>          <!--
********************************************************
Background section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>              <hl7:title>Background</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Mutations in the GJB2 (connexin 26) gene are the most common cause of
non syndromic hearing loss and are most often seen in a person with
hearing loss that was found in early childhood without any other medical
problems. The severity of the hearing loss can range from mild to profound.
The inheritance pattern is usually autosomal recessive, requiring two
mutations, one in each copy of the gene, to cause hearing loss. The GJB6-
D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin
30 protein (Cx30). This deletion, when present in two copies or when
combined with a single connexin 26 mutation, causes hearing loss. Although
the frequency of mitochondrial hearing loss is unknown, studies suggest
that mitochondrial mutations play an important role in inherited and
acquired hearing impairment.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
********************************************************
Methodology section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>              <hl7:title>Methodology</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are
amplified using flanking primer sets. PCR products are sequenced using
an ABI fluorescence automatic DNA sequencer. This test does not detect
large deletions or mutations in non-coding regions that could affect
gene expression. This assay is greater than 99.9% accurate in detecting
mutations in the sequences analyzed. Polymerase chain reaction (PCR)
analysis is performed to detect the presence or absence of a deletion
spanning the GJB6-D13S1830 region of chromosome 13.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!--
********************************************************
References section
********************************************************
-->
          <hl7:component>
            <hl7:section>
              <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>              <hl7:title>References</hl7:title>              <hl7:text>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del
Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing
allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness
Homepage. http://www.crg.es/deafness.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S,
Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E,
Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich
D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL,
Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and
evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus
in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73:
1452-1458.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling
WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal
recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in
patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg.
2001 Sep;127(9):1037-42.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants
and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med.
2002;4(4): 258-74.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated
with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz
M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British
Asian families. J Med Genet. 2001 Aug;38(8):530-3.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1
(Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics
Information Resource (database online). http://www.genetests.org.
</hl7:content>                  </hl7:item>                  <hl7:item>
                    <hl7:content>
Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J,
Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P,
Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR,
Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin
M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz
M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M,
Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F,
Mondain M, Hoefsloot, LH Cremers CWRJ, Löppönen T, Löppönen H, Parving A,
Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G,
Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P,
Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation
for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57.
</hl7:content>                  </hl7:item>                </hl7:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>    </hl7:structuredBody>  </hl7:component></ClinicalDocument>
ItemDTKardKonfBeschreibungLabel
hl7:ClinicalDocument
Genedotsicht
@classCode
cs0 … 1FDOCCLIN
@moodCode
cs0 … 1FEVN
hl7:realmCode
CS0 … 1RGenedotsicht
hl7:typeId
II1 … 1RGenedotsicht
@root
uid1 … 1F2.16.840.1.113883.1.3
@extension
st1 … 1FPOCD_HD000040
hl7:templateId
II1 … 1MGenedotsicht
@root
uid1 … 1F2.16.840.1.113883.10.20.20
hl7:templateId
II1 … 1RGenedotsicht
@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.1
hl7:id
II1 … 1RGenedotsicht
hl7:code
CE1 … 1RGenedotsicht
@code
CONF0 … 1F51969-4
@codeSystem
0 … 1F2.16.840.1.113883.6.1
@displayName
0 … 1FGenetic analysis summary report
hl7:title
1 … 1RStandardtitel ist "Genetischer Befundbericht"Genedotsicht
hl7:effectiveTime
TS1 … 1RGenedotsicht
 
target
genea-dataelement-1.6120draft Zeitstempel draft GENeALYSE Datensatz
hl7:confidentialityCode
CE1 … 1RGenedotsicht
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.16926 HL7 BasicConfidentialityKind (DYNAMIC)
hl7:languageCode
CS0 … 1Genedotsicht
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC)
hl7:setId
II0 … 1Genedotsicht
hl7:versionNumber
INT0 … 1Genedotsicht
Eingefügt1 … 1M von 1.2.276.0.76.10.2001 CDA recordTarget (DYNAMIC)
hl7:recordTarget
1 … 1MHeaddotsrget
 
target
genea-dataelement-1.1000draft Patient draft GENeALYSE Datensatz
@typeCode
cs0 … 1FRCT
@contextControlCode
cs0 … 1FOP
 Beispiel<recordTarget typeCode="RCT" contextControlCode="OP">
  <patientRole classCode="PAT">
    <!-- ... -->
  </patientRole></recordTarget>
hl7:patientRole
1 … 1Headdotsrget
@classCode
cs0 … 1FPAT
 Beispiel<patientRole classCode="PAT">
  <id extension="186245" root="1.2.276.0.76.3.1.139.3.871"/>  <patient classCode="PSN" determinerCode="INSTANCE">
    <!-- ... -->
  </patient></patientRole>
hl7:id
II1 … *Headdotsrget
 Beispiel<id extension="6245" root="2.16.840.1.113883.3.933"/><id extension="1543627549" root="1.2.276.0.76.4.1"/>
hl7:addr
AD0 … *Adresse des PatientenHeaddotsrget
 
target
genea-dataelement-1.1100draft Adresse draft GENeALYSE Datensatz
 Beispiel<addr use="HP">
  <streetName>Dorfstraße</streetName>  <houseNumber>54</houseNumber>  <postalCode>51371</postalCode>  <city>Leverkusen</city></addr>
hl7:telecom
TEL0 … *Kontaktdaten des PatientenHeaddotsrget
 
target
genea-dataelement-1.1160draft Kontaktdaten draft GENeALYSE Datensatz
 Beispiel<telecom use="H" value="tel:+4930140400"/><telecom use="MC" value="tel:+492211234567"/><telecom value="mailto:herberthannes.mustermann@provider.de"/>
hl7:patient
0 … 1Headdotsrget
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
 Beispiel<patient classCode="PSN" determinerCode="INSTANCE">
  <name>
    <!-- ... -->
  </name>  <administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/>  <birthTime value="19541223"/></patient>
Eingefügt1 … 1M von 1.2.276.0.76.10.90030 Personenname (DYNAMIC)
hl7:name
PN1 … 1MDie Reihenfolge der Namensbestandteile soll der typischen Schreibweise entsprechen. Zu beachten ist, dass prefix- und suffix-Elemente mit einem Leerzeichen enden müssen, wenn sie nicht unmittelbar an den folgenden Namensbestandteil anschließen sollen.
Persdotsname
 
target
genea-dataelement-1.1020draft Name draft GENeALYSE Datensatz
 Beispiel
Dr. med. Sine Johanna Gräfin von Oberberg
<name>
  <prefix qualifier="AC">Dr. med. </prefix>  <given>Sine Johanna</given>  <prefix qualifier="NB">Gräfin </prefix>  <prefix qualifier="VV">von </prefix>  <family>Oberberg</family></name>
 Beispiel
Prof. Dr. med. Dr. rer. nat. Fritz Julius Karl Freiherr von und zu Rathenburg vor der Isar, MdB
<name>
  <prefix qualifier="AC">Prof. Dr. med. Dr. rer. nat. </prefix>  <given>Fritz</given>  <given>Julius</given>  <given>Karl</given>  <prefix qualifier="NB">Freiherr </prefix>  <prefix qualifier="VV">von und zu </prefix>  <family>Rathenburg vor der
Isar</family>  <suffix>, MdB</suffix></name>
hl7:prefix
ENXP0 … *TitelPersdotsname
wo [@qualifier='AC']
 
target
genea-dataelement-1.1030draft Titel draft GENeALYSE Datensatz
@qualifier
set_cs1 … 1FAC
hl7:given
ENXP0 … *VornamePersdotsname
 
target
genea-dataelement-1.1060draft Vorname draft GENeALYSE Datensatz
hl7:prefix
ENXP0 … *NamenszusatzPersdotsname
wo [@qualifier='NB']
 
target
genea-dataelement-1.1050draft Zuname draft GENeALYSE Datensatz
@qualifier
set_cs1 … 1FNB
hl7:prefix
ENXP0 … *VorsatzwortPersdotsname
wo [@qualifier='VV']
@qualifier
set_cs1 … 1FVV
hl7:family
ENXP0 … *NachnamePersdotsname
 
target
genea-dataelement-1.1040draft Nachname draft GENeALYSE Datensatz
hl7:suffix
ENXP0 … *SuffixPersdotsname
hl7:administrativeGenderCode
CE1 … 1RGeschlecht (administrativ) des PatientenHeaddotsrget
 
target
genea-dataelement-1.1070draft Geschlecht draft GENeALYSE Datensatz
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.1 Administrative Gender (HL7 V3) (DYNAMIC)
 Beispiel<administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/>
hl7:birthTime
TS.DATE.MIN1 … 1RGeburtsdatum des PatientenHeaddotsrget
 
target
genea-dataelement-1.1090draft Geburtsdatum draft GENeALYSE Datensatz
 Beispiel<birthTime value="19491224"/>
hl7:maritalStatusCode
CE0 … 1Familienstand des PatientenHeaddotsrget
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12212 Marital Status (DYNAMIC)
 Beispiel<maritalStatusCode code="S" displayName="Never Married" codeSystem="2.16.840.1.113883.5.2"/>
hl7:religiousAffiliationCode
CE0 … 1Religionszugehörigkeit des PatientenHeaddotsrget
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19185 Religious Affiliation (DYNAMIC)
 Beispiel<religiousAffiliationCode code="1077" displayName="Protestant" codeSystem="2.16.840.1.113883.5.1076"/>
hl7:raceCode
NPdarf nicht verwendet werdenHeaddotsrget
hl7:ethnicGroupCode
NPdarf nicht verwendet werdenHeaddotsrget
 
target
genea-dataelement-1.1080draft Ethnie draft GENeALYSE Datensatz
hl7:guardian
0 … *Vormund/Sachwalter des PatientenHeaddotsrget
hl7:addr
AD0 … 1Headdotsrget
hl7:telecom
TEL0 … *Headdotsrget
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:guardianPerson
  • hl7:guardianOrganization
hl7:guardianPerson
Headdotsrget
hl7:name
PN1 … 1MHeaddotsrget
hl7:guardianOrganization
Headdotsrget
hl7:name
ON1 … 1MHeaddotsrget
hl7:birthplace
0 … 1Geburtsort des PatientenHeaddotsrget
 Beispiel<birthplace>
  <place>
    <addr>Hamburg</addr>  </place></birthplace>
hl7:place
1 … 1MHeaddotsrget
hl7:addr
AD1 … 1MHeaddotsrget
hl7:languageCommunication
0 … *Headdotsrget
hl7:languageCode
CS0 … 1Headdotsrget
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC)
hl7:modeCode
CE0 … 1Headdotsrget
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12249 LanguageAbilityMode (DYNAMIC)
hl7:proficiencyLevelCode
CE0 … 1Headdotsrget
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12199 LanguageAbilityProficiency (DYNAMIC)
hl7:preferenceInd
BL0 … 1Headdotsrget
Eingefügt1 … 1M von 1.2.276.0.76.10.2007 CDA author Person (DYNAMIC)
hl7:author
1 … 1MHeaddotsrson
 
target
genea-dataelement-1.6140draft Labor / Institution/ Ansprechpartner draft GENeALYSE Datensatz
@typeCode
cs0 … 1FAUT
@contextControlCode
cs0 … 1FOP
 Beispiel<author typeCode="AUT" contextControlCode="OP">
  <time value="201306101654"/>  <assignedAuthor classCode="ASSIGNED">
    <!-- ... -->
  </assignedAuthor></author>
hl7:functionCode
CE0 … 1Headdotsrson
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10267 ParticipationFunction (DYNAMIC)
hl7:time
TS.DATE.MIN1 … 1Headdotsrson
hl7:assignedAuthor
1 … 1Headdotsrson
@classCode
cs0 … 1FASSIGNED
hl7:id
II1 … *Headdotsrson
hl7:code
CE0 … 1Fachgebiet/Spezialität des Gesundheitsdienstleister, z. B. Ärztin/Arzt für Allgemeinmedizin, Approbierte Ärztin/Approbierter Arzt, Fachärztin/Facharzt für Anästhesiologie und IntensivmedizinHeaddotsrson
hl7:telecom
TEL0 … *Headdotsrson
hl7:assignedPerson
 … 1Headdotsrson
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:representedOrganization
1 … 1MHeaddotsrson
 Beispiel<representedOrganization classCode="ORG" determinerCode="INSTANCE">
  <name>
    <!-- ... -->
  </name></representedOrganization>
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … 1 von 1.2.276.0.76.10.2017 CDA dataEnterer (DYNAMIC)
hl7:dataEnterer
0 … 1Headdotserer
@typeCode
cs0 … 1FENT
@contextControlCode
cs0 … 1FOP
hl7:time
TS0 … 1gibt den Zeitpunkt an, an dem der Datentypist seinen Beitrag am Dokument beendet hatHeaddotserer
hl7:assignedEntity
1 … 1RHeaddotserer
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
hl7:id
II1 … *RAssidotsents
hl7:addr
AD0 … 1RAssidotsents
hl7:telecom
TEL0 … *RAssidotsents
hl7:assignedPerson
1 … 1MAssidotsents
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:representedOrganization
0 … 1Assidotsents
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2018 CDA Informant (DYNAMIC)
hl7:informant
0 … *CDAidotsmant
@typeCode
cs0 … 1FINF
@contextControlCode
cs0 … 1FOP
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:assignedEntity
  • hl7:relatedEntity
hl7:assignedEntity
0 … 1GesundheitsdienstleisterCDAidotsmant
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
hl7:id
II1 … *RAssidotsents
hl7:addr
AD0 … 1RAssidotsents
hl7:telecom
TEL0 … *RAssidotsents
hl7:assignedPerson
1 … 1MAssidotsents
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:representedOrganization
0 … 1Assidotsents
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
hl7:relatedEntity
0 … 1Verwandte, Bekannte, Sozialhelfer, Betreuer/ErzieherCDAidotsmant
Eingefügt von 1.2.276.0.76.10.90020 RelatedEntity (Body) (DYNAMIC)
@classCode
cs1 … 1R
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19316 RoleClassMutualRelationship (DYNAMIC)
hl7:code
CE0 … 1ReladotsBody
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC)
hl7:addr
AD0 … *ReladotsBody
hl7:telecom
TEL0 … *ReladotsBody
hl7:effectiveTime
IVL_TS0 … 1ReladotsBody
hl7:relatedPerson
0 … 1ReladotsBody
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
Eingefügt1 … 1M von 1.2.276.0.76.10.2004 CDA custodian (DYNAMIC)
hl7:custodian
1 … 1MHeaddotsdian
@typeCode
cs0 … 1FCST
 Beispiel<custodian typeCode="CST">
  <assignedCustodian classCode="ASSIGNED">
    <representedCustodianOrganization classCode="ORG" determinerCode="INSTANCE">
      <!-- ... -->
    </representedCustodianOrganization>  </assignedCustodian></custodian>
hl7:assignedCustodian
1 … 1MHeaddotsdian
@classCode
cs0 … 1FASSIGNED
hl7:representedCustodianOrganization
1 … 1MHeaddotsdian
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II1 … 1MHeaddotsdian
hl7:name
ON1 … 1MHeaddotsdian
hl7:telecom
TEL0 … 1Headdotsdian
hl7:addr
AD0 … 1Headdotsdian
Eingefügt0 … * von 1.2.276.0.76.10.2005 CDA informationRecipient (DYNAMIC)
hl7:informationRecipient
0 … *Headdotsient
@typeCode
cs0 … 1 Typ des Empfängers: im @typeCode der Participation kann angegeben werden, ob es sich um einen primären Empfänger handelt (default) oder einen sekundären Empfänger („CC Kopie").
Der typeCode PRCP ist der default.
 CONF
@typeCode muss "PRCP" sein
oder
@typeCode muss "TRC" sein
hl7:intendedRecipient
1 … 1MHeaddotsient
hl7:id
II1 … *RHeaddotsient
Auswahl1 … *
Wenn der beabsichtigte Empfänger eine Person ist, dann wird dies durch die Anwesenheit der Person Klasse mit oder ohne zugehörige Organisation spezifiziert. Wenn der beabsichtigte Empfänger eine Organisation ist, wird nur die Organisation angegeben, die Person fehlt.
Elemente in der Auswahl:
  • hl7:informationRecipient
  • hl7:receivedOrganization
hl7:informationRecipient
0 … 1Headdotsient
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:receivedOrganization
0 … 1Headdotsient
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … 1 von 1.2.276.0.76.10.2020 CDA legalAuthenticator (DYNAMIC)
hl7:legalAuthenticator
0 … 1Headdotsator
@typeCode
cs0 … 1FLA
@contextControlCode
cs0 … 1FOP
hl7:time
TS1 … 1RHeaddotsator
hl7:signatureCode
CS1 … 1RHeaddotsator
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
hl7:assignedEntity
1 … 1RHeaddotsator
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
hl7:id
II1 … *RAssidotsents
hl7:addr
AD0 … 1RAssidotsents
hl7:telecom
TEL0 … *RAssidotsents
hl7:assignedPerson
1 … 1MAssidotsents
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:representedOrganization
0 … 1Assidotsents
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2019 CDA authenticator (DYNAMIC)
hl7:authenticator
0 … *Headdotsator
@typeCode
cs0 … 1FAUTHEN
hl7:time
TS1 … 1RHeaddotsator
hl7:signatureCode
CS1 … 1RHeaddotsator
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
hl7:assignedEntity
1 … 1RHeaddotsator
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
hl7:id
II1 … *RAssidotsents
hl7:addr
AD0 … 1RAssidotsents
hl7:telecom
TEL0 … *RAssidotsents
hl7:assignedPerson
1 … 1MAssidotsents
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:representedOrganization
0 … 1Assidotsents
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … 1 von 1.2.276.0.76.10.2023 CDA participant Einweiser (DYNAMIC)
Einweisender/Zuweisender Arzt
hl7:participant
0 … 1Headdotsiser
wo [hl7:templateId [@root='1.2.276.0.76.10.2023']]
@typeCode
cs1 … 1FREF
hl7:templateId
II1 … *MHeaddotsiser
@root
uid1 … 1F1.2.276.0.76.10.2023
hl7:time
TS.DATE.MIN0 … 1REinweisungsdatum und -zeitHeaddotsiser
 Beispiel<time value="201408091624"/>
hl7:associatedEntity
1 … 1MHeaddotsiser
@classCode
cs1 … 1FPROV
hl7:id
II0 … *Headdotsiser
hl7:addr
AD0 … 1Headdotsiser
hl7:telecom
TEL0 … *Headdotsiser
hl7:associatedPerson
1 … 1RHeaddotsiser
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:scopingOrganization
0 … 1Headdotsiser
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … 1 von 1.2.276.0.76.10.2012 CDA participant Hausarzt (DYNAMIC)
Hausarzt
hl7:participant
0 … 1Headdotsarzt
wo [hl7:templateId [@root='1.2.276.0.76.10.2012']]
@typeCode
cs1 … 1FIND
hl7:templateId
II1 … *MHeaddotsarzt
@root
uid1 … 1F1.2.276.0.76.10.2012
hl7:functionCode
CE1 … *MHeaddotsarzt
@code
CONF1 … 1FPCP
@codeSystem
1 … 1F2.16.840.1.113883.5.88
hl7:associatedEntity
1 … 1MHeaddotsarzt
@classCode
cs1 … 1FPROV
hl7:id
II0 … *An dieser Stelle kann die Arztnummer (LANR) unter Angabe der dazugehörigen OID übermittelt werden.
Headdotsarzt
hl7:addr
AD0 … 1Headdotsarzt
hl7:telecom
TEL0 … *Headdotsarzt
hl7:associatedPerson
1 … 1MHeaddotsarzt
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:scopingOrganization
0 … 1Headdotsarzt
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2011 CDA participant Notfallkontakt (DYNAMIC)
Notfall-Kontakt / Auskunftsberechtigte Person
hl7:participant
0 … *Headdotstakt
wo [hl7:templateId [@root='1.2.276.0.76.10.2011']]
@typeCode
cs1 … 1FIND
hl7:templateId
II1 … *MHeaddotstakt
@root
uid1 … 1F1.2.276.0.76.10.2011
hl7:time
IVL_TS0 … 1Headdotstakt
 Beispiel
Teilnahmezeitraum, Notfallkontakt von 1. November 2013 bis 21. November 2013 (Ende des Tages)
<time>
  <low value="20131101"/>  <high value="201311212359"/></time>
 Beispiel
Teilnahmezeitpunkt , Notfallkontakt am 21. November 2013
<time value="20131121"/>
 Beispiel
Teilnahmezeitraum, Notfallkontakt ab 1. November 2013
<time>
  <low value="20131101"/></time>
hl7:associatedEntity
1 … 1MHeaddotstakt
@classCode
cs1 … 1FECON
hl7:code
CE0 … 1Headdotstakt
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC)
hl7:addr
AD0 … 1Headdotstakt
hl7:telecom
TEL0 … *RHeaddotstakt
hl7:associatedPerson
1 … 1MHeaddotstakt
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:scopingOrganization
0 … 1Headdotstakt
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2021 CDA participant Angehörige (DYNAMIC)
Angehörige
hl7:participant
0 … *Headdotsrige
wo [hl7:templateId [@root='1.2.276.0.76.10.2021']]
@typeCode
cs1 … 1FIND
hl7:templateId
II1 … *MHeaddotsrige
@root
uid1 … 1F1.2.276.0.76.10.2021
hl7:associatedEntity
1 … 1MHeaddotsrige
@classCode
cs1 … 1FPRS
hl7:code
CE0 … 1Headdotsrige
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC)
hl7:addr
AD0 … 1Headdotsrige
hl7:telecom
TEL0 … *Headdotsrige
hl7:associatedPerson
1 … 1MHeaddotsrige
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:scopingOrganization
0 … 1Headdotsrige
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2022 CDA participant Kostentraeger (DYNAMIC)
Kostenträger/Versicherung
hl7:participant
0 … *Headdotseger
wo [hl7:templateId [@root='1.2.276.0.76.10.2022']]
@typeCode
cs1 … 1FHLD
hl7:templateId
II1 … *MHeaddotseger
@root
uid1 … 1F1.2.276.0.76.10.2022
hl7:time
IVL_TS0 … 1Hier muss immer ein Quartalsende angegeben sein (MM/YY) => YYYYMMDD, z. B. Quartal I/2016, Quartalsende ist demnach März 2016 und wird zu 20160331Headdotseger
 Beispiel<time>
  <high value="20131231"/></time>
hl7:associatedEntity
1 … 1MHeaddotseger
@classCode
cs1 … 1FPOLHOLD
hl7:id
II0 … *VersichertennummernHeaddotseger
hl7:code
CE0 … 1Versichertenstatus
Headdotseger
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 1.2.276.0.76.11.68 InsuredAssocEntity (DYNAMIC)
 Beispiel<code code="SELF" codeSystem="2.16.840.1.113883.5.111" displayName="self">
  <translation code="1" codeSystem="2.16.840.1.113883.3.7.1.1" displayName="Mitglied"/></code>
hl7:translation
CV0 … 1Codierungen des Versichertenstatus im Rahmen der GKVHeaddotseger
wo [@codeSystem='2.16.840.1.113883.3.7.1.1']
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 1.2.276.0.76.11.162 S_KBV_VERSICHERTENSTATUS (DYNAMIC)
hl7:translation
CV0 … *Weitere Codierungen des VersichertenstatusHeaddotseger
hl7:addr
AD0 … 1Headdotseger
hl7:telecom
TEL0 … *Headdotseger
hl7:associatedPerson
0 … 1Headdotseger
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
 Schematron assertrolered error 
 testnot(hl7:code[@code='FAMDEP']) or hl7:associatedPerson 
 MeldungWenn das Versicherungsverhältnis "familienversichert" ist, dann muss eine associatedPerson angegeben sein 
hl7:scopingOrganization
1 … 1In scopingOrganization wird im id Attribut das Institutionskennzeichen (IKNR) des Kostenträgers mit @extension = die eigentliche IKNR und @root = "1.2.276.0.76.4.5" (Dies ist die OID für IK-Nummern in Deutschland) angegebenHeaddotseger
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2025 CDA participant Ansprechpartner (DYNAMIC)
Fachlicher Ansprechpartner
hl7:participant
0 … *Headdotstner
wo [hl7:templateId [@root='1.2.276.0.76.10.2025']]
@typeCode
cs1 … 1FCALLBCK
hl7:templateId
II1 … *MHeaddotstner
@root
uid1 … 1F1.2.276.0.76.10.2025
hl7:associatedEntity
1 … 1MHeaddotstner
@classCode
cs1 … 1FPROV
hl7:addr
AD0 … 1Headdotstner
hl7:telecom
TEL1 … *MHeaddotstner
hl7:associatedPerson
1 … 1MHeaddotstner
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:scopingOrganization
0 … 1Headdotstner
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2026 CDA participant Betreuungsorganisation (DYNAMIC)
Betreuende Organisation
hl7:participant
0 … *Headdotsuorg
wo [hl7:templateId [@root='1.2.276.0.76.10.2026']]
@typeCode
cs1 … 1FIND
hl7:templateId
II1 … *MHeaddotsuorg
@root
uid1 … 1F1.2.276.0.76.10.2026
hl7:associatedEntity
1 … 1MHeaddotsuorg
@classCode
cs1 … 1FCAREGIVER
hl7:scopingOrganization
1 … 1MHeaddotsuorg
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … * von 1.2.276.0.76.10.2024 CDA participant Weitere Beteiligte (DYNAMIC)
Weitere Beteiligte
hl7:participant
0 … *Headdotspant
@typeCode
cs1 … 1RTypischerweise sind hier nur Codes für @typeCode zu verwenden, die nicht durch eine bereits existierende spezialisierte Participantion ausgedrückt werden wie z. B. author, authenticator etc.; es sind nicht alle Kombinationen von @typeCode, functionCode und associatedEntity/code sinnvoll.
 CONF
Der Wert von @typeCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10901 ParticipationType (DYNAMIC)
@contextControlCode
cs1 … 1FOP
hl7:functionCode
CE0 … 1Headdotspant
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10267 ParticipationFunction (DYNAMIC)
hl7:time
IVL_TS0 … 1Headdotspant
hl7:associatedEntity
1 … 1RHeaddotspant
@classCode
cs1 … 1R
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19313 RoleClassAssociative (DYNAMIC)
hl7:id
II0 … *Headdotspant
hl7:code
CE0 … 1Headdotspant
@codeSystem
CONF0 … 1F2.16.840.1.113883.5.111
hl7:addr
AD0 … *Headdotspant
hl7:telecom
TEL0 … *Headdotspant
hl7:associatedPerson
0 … 1Headdotspant
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:scopingOrganization
0 … 1Headdotspant
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … 1 von 1.2.276.0.76.10.2027 CDA encompassingEncounter Patientenkontakt (DYNAMIC)
Patientenkontakt (Aufenthalt)
hl7:componentOf
0 … 1Headdotsnter
@typeCode
cs0 … 1FCOMP
hl7:encompassingEncounter
1 … 1RHeaddotsnter
@classCode
cs0 … 1FENC
@moodCode
cs0 … 1FEVN
hl7:id
II0 … 1Identifikationselement zur Aufnahme der Aufenthalts-Identifikation
Headdotsnter
hl7:code
CE1 … 1MHeaddotsnter
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.13955 ActEncounterCode (DYNAMIC)
 Beispiel<code code="IMP" codeSystem="2.16.840.1.113883.5.4"/>
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:effectiveTime[hl7:high]
  • hl7:effectiveTime[@value]
hl7:effectiveTime
IVL_TS … 1RZeitraumHeaddotsnter
wo [hl7:high]
 Beispiel
Vom 7. Juni 2011 11:24 Uhr bis zum 11. Juni 2011 16:54 Uhr
<effectiveTime>
  <low value="201106071124"/>  <high value="201106111654"/></effectiveTime>
hl7:effectiveTime
TS … 1RBestimmter TagHeaddotsnter
wo [@value]
@value
1 … 1R
 Beispiel
Am 7. Juni 2011 (ambulanter Besuch ohne genauere Zeitangaben des Tages)
<effectiveTime value="20110607"/>
hl7:responsibleParty
0 … 1Headdotsnter
hl7:assignedEntity
1 … 1MHeaddotsnter
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
hl7:id
II1 … *RAssidotsents
hl7:addr
AD0 … 1RAssidotsents
hl7:telecom
TEL0 … *RAssidotsents
hl7:assignedPerson
1 … 1MAssidotsents
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
@classCode
cs0 … 1FPSN
@determinerCode
cs0 … 1FINSTANCE
hl7:name
PN1 … 1MPersdotsents
hl7:representedOrganization
0 … 1Assidotsents
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
hl7:id
II0 … *Orgadotsents
hl7:name
ON1 … 1MOrgadotsents
hl7:telecom
TEL0 … *Orgadotsents
hl7:addr
AD0 … 1Orgadotsents
Eingefügt0 … 1R von 1.2.276.0.76.10.90021 Encounter Location (DYNAMIC)
hl7:location
0 … 1REncodotstion
@typeCode
cs0 … 1FLOC
 Beispiel<location typeCode="LOC">
  <healthCareFacility classCode="SDLOC">
    <!-- ... -->
  </healthCareFacility></location>
hl7:healthCareFacility
1 … 1MEncodotstion
@classCode
cs0 … 1FSDLOC
 Beispiel<healthCareFacility classCode="SDLOC">
  <serviceProviderOrganization classCode="ORG" determinerCode="INSTANCE">
    <!-- ... -->
  </serviceProviderOrganization></healthCareFacility>
hl7:serviceProviderOrganization
1 … 1MEncodotstion
@classCode
cs0 … 1FORG
@determinerCode
cs0 … 1FINSTANCE
 Beispiel<serviceProviderOrganization classCode="ORG" determinerCode="INSTANCE">
  <name/>  <addr>
    <!-- ... -->
  </addr></serviceProviderOrganization>
hl7:id
II1 … *REncodotstion
hl7:name
ON1 … 1MEncodotstion
hl7:telecom
TEL1 … *MEncodotstion
hl7:addr
AD1 … 1MEncodotstion
Eingefügt0 … 1 von 1.2.276.0.76.10.2015 Auftragsidentifikation (DYNAMIC)
hl7:inFulfillmentOf
0 … 1HeaddotsntOf
 
target
genea-dataelement-1.2270draft Anforderung draft GENeALYSE Datensatz
@typeCode
cs1 … 1FFLFS
hl7:templateId
II1 … *MHeaddotsntOf
@root
uid1 … 1F1.2.276.0.76.10.2015
hl7:order
1 … 1MAuftragHeaddotsntOf
@classCode
cs1 … 1FACT
@moodCode
cs1 … 1FRQO
hl7:id
II1 … 1MAuftragsnummer, AnforderungsnummerHeaddotsntOf
Eingefügt0 … 1 von 1.3.6.1.4.1.19376.1.3.3.1.6 Ordering Provider (DYNAMIC)
hl7:participant
0 … 1en-US Referral Ordering PhysicianOrdedotsider
 
target
genea-dataelement-1.2130draft Anforderung durch draft GENeALYSE Datensatz
@typeCode
cs1 … 1FREF
hl7:templateId
II1 … 1Ordedotsider
@root
uid1 … 1F1.3.6.1.4.1.19376.1.3.3.1.6
hl7:time
IVL_TS1 … 1Ren-US This element represents the date and time the order was placed. Time MAY be present.Ordedotsider
hl7:associatedEntity
1 … 1Ordedotsider
hl7:addr
AD1 … *Ren-US The address of this person (referral ordering physician) SHALL be present.Ordedotsider
hl7:telecom
TEL1 … *Ren-US The telecom of this person (referral ordering physician) SHALL be present.Ordedotsider
 Schematron assertrolered error 
 testnot(hl7:assignedPerson) or hl7:assignedPerson/hl7:name 
 MeldungThe <name> sub-element SHALL be present when <assignedPerson> present. 
hl7:associatedPerson
0 … 1ROrdedotsider
hl7:scopingOrganization
0 … 1Ordedotsider
hl7:component
1 … 1Genedotsicht
@typeCode
cs0 … 1FCOMP
@contextConductionInd
bl1 … 1R
hl7:structuredBody
1 … 1Genedotsicht
@classCode
cs0 … 1FDOCBODY
@moodCode
cs0 … 1FEVN
 ConstraintAbschnitte und Unterabschnitte haben einen Titel und der Titel darf NICHT leer sein. Der Text einer Abschnittsüberschrift kann den Abschnittscode spezialisieren, indem er spezifischer ist, z. B. ein genetischer Testbericht für Hörverlust.

Die Abschnitte MÜSSEN in der Reihenfolge angezeigt werden, in der sie in diesem Leitfaden aufgeführt sind. Daher MUSS SummarySection zuerst und TestInformationSection zuletzt angezeigt werden (sofern nicht in jedem TestDetailsSection vorhanden). Dazwischen kann die TestDetailsSection nach der Anzahl der durchgeführten Gentests wiederholt werden.
hl7:section
1 … 1RBeinhaltet 2.16.840.1.113883.2.6.60.13.10.13 Zusammenfassung Section (DYNAMIC)Genedotsicht
hl7:section
1 … *RBeinhaltet 2.16.840.1.113883.2.6.60.13.10.18 Testdetails Section (DYNAMIC)Genedotsicht
hl7:section
1 … 1RBeinhaltet 2.16.840.1.113883.2.6.60.13.10.19 Testinformationen Section (DYNAMIC)Genedotsicht