2.16.840.1.113883.2.6.60.13.10.1/static-2018-08-09T175259

Id	2.16.840.1.113883.2.6.60.13.10.1	Gültigkeit	2018‑08‑09 17:52:59
Status	Entwurf	Versions-Label
Name	GenetischerBefundbericht	Bezeichnung	Genetischer Befundbericht
Beschreibung
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.1
Klassifikation	CDA Document Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit	Assoziiert mit 1 Konzept Id Name Datensatz genea-data​element-1.6120  Zeitstempel  GENeALYSE Datensatz
Benutzt	Benutzt 22 Templates Benutzt als Name Version 1.2.276.0.76.10.2001 Inklusion CDA recordTarget DYNAMIC 1.2.276.0.76.10.2007 Inklusion CDA author Person DYNAMIC 1.2.276.0.76.10.2017 Inklusion CDA dataEnterer DYNAMIC 1.2.276.0.76.10.2018 Inklusion CDA Informant DYNAMIC 1.2.276.0.76.10.2004 Inklusion CDA custodian DYNAMIC 1.2.276.0.76.10.2005 Inklusion CDA informationRecipient DYNAMIC 1.2.276.0.76.10.2020 Inklusion CDA legalAuthenticator DYNAMIC 1.2.276.0.76.10.2019 Inklusion CDA authenticator DYNAMIC 1.2.276.0.76.10.2023 Inklusion CDA participant Einweiser DYNAMIC 1.2.276.0.76.10.2012 Inklusion CDA participant Hausarzt DYNAMIC 1.2.276.0.76.10.2011 Inklusion CDA participant Notfallkontakt DYNAMIC 1.2.276.0.76.10.2021 Inklusion CDA participant Angehörige DYNAMIC 1.2.276.0.76.10.2022 Inklusion CDA participant Kostentraeger DYNAMIC 1.2.276.0.76.10.2025 Inklusion CDA participant Ansprechpartner DYNAMIC 1.2.276.0.76.10.2026 Inklusion CDA participant Betreuungsorganisation DYNAMIC 1.2.276.0.76.10.2024 Inklusion CDA participant Weitere Beteiligte DYNAMIC 1.2.276.0.76.10.2027 Inklusion CDA encompassingEncounter Patientenkontakt (1.1) DYNAMIC 1.2.276.0.76.10.2015 Inklusion Auftragsidentifikation DYNAMIC 1.3.6.1.4.1.19376.1.3.3.1.6 Inklusion Ordering Provider (2017) DYNAMIC 2.16.840.1.113883.2.6.60.13.10.13 Containment Zusammenfassung Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.18 Containment Testdetails Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.19 Containment Testinformationen Section DYNAMIC
Beziehung	Adaptation: 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 <hl7: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></hl7:ClinicalDocument>
Beispiel	Beispiel <hl7: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></hl7:ClinicalDocument>
Item DT Kard Konf Beschreibung Label hl7:ClinicalDocument (Gen...cht) @classCode cs 0 … 1 F DOCCLIN @moodCode cs 0 … 1 F EVN hl7:realmCode CS 0 … 1 R (Gen...cht) hl7:typeId II 1 … 1 R (Gen...cht) @root uid 1 … 1 F 2.16.840.1.113883.1.3 @extension st 1 … 1 F POCD_HD000040 hl7:templateId II 1 … 1 M (Gen...cht) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20 hl7:templateId II 1 … 1 R (Gen...cht) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.1 hl7:id II 1 … 1 R (Gen...cht) hl7:code CE 1 … 1 R (Gen...cht) @code CONF 0 … 1 F 51969-4 @codeSystem 0 … 1 F 2.16.840.1.113883.6.1 (LOINC) @displayName 0 … 1 F Genetic analysis summary report hl7:title 1 … 1 R Standardtitel ist "Genetischer Befundbericht" (Gen...cht) hl7:effectiveTime TS 1 … 1 R (Gen...cht)   genea-data​element-1.6120  Zeitstempel  GENeALYSE Datensatz hl7:confidentialityCode CE 1 … 1 R (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.16926 HL7 BasicConfidentialityKind (DYNAMIC) hl7:language​Code CS 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC) hl7:setId II 0 … 1 (Gen...cht) hl7:versionNumber INT 0 … 1 (Gen...cht) Eingefügt 1 … 1 M von 1.2.276.0.76.10.2001 CDA recordTarget (DYNAMIC) hl7:recordTarget 1 … 1 M (Gen...cht)   genea-data​element-1.1000  Patient  GENeALYSE Datensatz @typeCode 0 … 1 F RCT @context​Control​Code 0 … 1 F OP   Beispiel <recordTarget typeCode="RCT" contextControlCode="OP">   <patientRole classCode="PAT">     <!-- ... -->   </patientRole></recordTarget> hl7:patientRole 1 … 1 (Gen...cht) @classCode 0 … 1 F PAT   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 II 1 … * (Gen...cht)   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 AD 0 … * Adresse des Patienten (Gen...cht)   genea-data​element-1.1100  Adresse  GENeALYSE Datensatz   Beispiel <addr use="HP">   <streetName>Dorfstraße</streetName>  <houseNumber>54</houseNumber>  <postalCode>51371</postalCode>  <city>Leverkusen</city></addr> hl7:telecom TEL 0 … * Kontaktdaten des Patienten (Gen...cht)   genea-data​element-1.1160  Kontaktdaten  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 … 1 (Gen...cht) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE   Beispiel <patient classCode="PSN" determinerCode="INSTANCE">   <name>     <!-- ... -->   </name>  <administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/>  <birthTime value="19541223"/></patient> Eingefügt 1 … 1 M von 1.2.276.0.76.10.90030 Personenname (DYNAMIC) hl7:name PN 1 … 1 M Die 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. (Gen...cht)   genea-data​element-1.1020  Name  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 ENXP 0 … * Titel (Gen...cht) wo [@qualifier='AC']   genea-data​element-1.1030  Titel  GENeALYSE Datensatz @qualifier set_cs 1 … 1 F AC hl7:given ENXP 0 … * Vorname (Gen...cht)   genea-data​element-1.1060  Vorname  GENeALYSE Datensatz hl7:prefix ENXP 0 … * Namenszusatz (Gen...cht) wo [@qualifier='NB']   genea-data​element-1.1050  Zuname  GENeALYSE Datensatz @qualifier set_cs 1 … 1 F NB hl7:prefix ENXP 0 … * Vorsatzwort (Gen...cht) wo [@qualifier='VV'] @qualifier set_cs 1 … 1 F VV hl7:family ENXP 0 … * Nachname (Gen...cht)   genea-data​element-1.1040  Nachname  GENeALYSE Datensatz hl7:suffix ENXP 0 … * Suffix (Gen...cht) hl7:administrative​Gender​Code CE 1 … 1 R Geschlecht (administrativ) des Patienten (Gen...cht)   genea-data​element-1.1070  Geschlecht  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.​MIN 1 … 1 R Geburtsdatum des Patienten (Gen...cht)   genea-data​element-1.1090  Geburtsdatum  GENeALYSE Datensatz   Beispiel <birthTime value="19491224"/> hl7:marital​Status​Code CE 0 … 1 Familienstand des Patienten (Gen...cht)   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:religious​Affiliation​Code CE 0 … 1 Religionszugehörigkeit des Patienten (Gen...cht)   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 NP darf nicht verwendet werden (Gen...cht) hl7:ethnic​Group​Code NP darf nicht verwendet werden (Gen...cht)   genea-data​element-1.1080  Ethnie  GENeALYSE Datensatz hl7:guardian 0 … * Vormund/Sachwalter des Patienten (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) Auswahl 1 … 1 Elemente in der Auswahl: hl7:guardian​Person hl7:guardian​Organization hl7:guardian​Person (Gen...cht) hl7:name PN 1 … 1 M (Gen...cht) hl7:guardian​Organization (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:birthplace 0 … 1 Geburtsort des Patienten (Gen...cht)   Beispiel <birthplace>   <place>     <addr>Hamburg</addr>  </place></birthplace> hl7:place 1 … 1 M (Gen...cht) hl7:addr AD 1 … 1 M (Gen...cht) hl7:language​Communication 0 … * (Gen...cht) hl7:language​Code CS 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC) hl7:modeCode CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12249 LanguageAbilityMode (DYNAMIC) hl7:proficiency​Level​Code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12199 LanguageAbilityProficiency (DYNAMIC) hl7:preference​Ind BL 0 … 1 (Gen...cht) Eingefügt 1 … 1 M von 1.2.276.0.76.10.2007 CDA author Person (DYNAMIC) hl7:author 1 … 1 M (Gen...cht)   genea-data​element-1.6140  Labor / Institution/ Ansprechpartner  GENeALYSE Datensatz @typeCode 0 … 1 F AUT @context​Control​Code 0 … 1 F OP   Beispiel <author typeCode="AUT" contextControlCode="OP">   <time value="201306101654"/>  <assignedAuthor classCode="ASSIGNED">     <!-- ... -->   </assignedAuthor></author> hl7:functionCode CE 0 … 1 (Gen...cht)   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.​MIN 1 … 1 (Gen...cht) hl7:assignedAuthor 1 … 1 (Gen...cht) @classCode 0 … 1 F ASSIGNED hl7:id II 1 … * (Gen...cht) hl7:code CE 0 … 1 Fachgebiet/Spezialität des Gesundheitsdienstleister, z. B. Ärztin/Arzt für Allgemeinmedizin, Approbierte Ärztin/Approbierter Arzt, Fachärztin/Facharzt für Anästhesiologie und Intensivmedizin (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:assigned​Person  … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 1 … 1 M (Gen...cht)   Beispiel <representedOrganization classCode="ORG" determinerCode="INSTANCE">   <name>     <!-- ... -->   </name></representedOrganization> Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2017 CDA dataEnterer (DYNAMIC) hl7:dataEnterer 0 … 1 (Gen...cht) @typeCode 0 … 1 F ENT @context​Control​Code 0 … 1 F OP hl7:time TS 0 … 1 gibt den Zeitpunkt an, an dem der Datentypist seinen Beitrag am Dokument beendet hat (Gen...cht) hl7:assignedEntity 1 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2018 CDA Informant (DYNAMIC) hl7:informant 0 … * (Gen...cht) @typeCode 0 … 1 F INF @context​Control​Code 0 … 1 F OP Auswahl 1 … 1 Elemente in der Auswahl: hl7:assignedEntity[hl7:assigned​Person] hl7:relatedEntity hl7:assignedEntity 0 … 1 Gesundheitsdienstleister (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:relatedEntity 0 … 1 Verwandte, Bekannte, Sozialhelfer, Betreuer/Erzieher (Gen...cht) Eingefügt von 1.2.276.0.76.10.90020 RelatedEntity (Body) (DYNAMIC) @classCode cs 1 … 1 R   CONF Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19316 RoleClassMutualRelationship (DYNAMIC) hl7:code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC) hl7:addr AD 0 … * (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:effectiveTime IVL_TS 0 … 1 (Gen...cht) hl7:relatedPerson 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) Eingefügt 1 … 1 M von 1.2.276.0.76.10.2004 CDA custodian (DYNAMIC) hl7:custodian 1 … 1 M (Gen...cht) @typeCode 0 … 1 F CST   Beispiel <custodian typeCode="CST">   <assignedCustodian classCode="ASSIGNED">     <representedCustodianOrganization classCode="ORG" determinerCode="INSTANCE">       <!-- ... -->     </representedCustodianOrganization>  </assignedCustodian></custodian> hl7:assignedCustodian 1 … 1 M (Gen...cht) @classCode 0 … 1 F ASSIGNED hl7:represented​Custodian​Organization 1 … 1 M (Gen...cht) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 1 … 1 M (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … 1 (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2005 CDA informationRecipient (DYNAMIC) hl7:information​Recipient 0 … * (Gen...cht) @typeCode cs 0 … 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:intended​Recipient 1 … 1 M (Gen...cht) hl7:id II 1 … * R (Gen...cht) Auswahl 1 … * 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:information​Recipient hl7:received​Organization hl7:information​Recipient 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:received​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2020 CDA legalAuthenticator (DYNAMIC) hl7:legalAuthenticator 0 … 1 (Gen...cht) @typeCode 0 … 1 F LA @context​Control​Code 0 … 1 F OP hl7:time TS 1 … 1 R (Gen...cht) hl7:signatureCode CS 1 … 1 R (Gen...cht)   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 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2019 CDA authenticator (DYNAMIC) hl7:authenticator 0 … * (Gen...cht) @typeCode cs 0 … 1 F AUTHEN hl7:time TS 1 … 1 R (Gen...cht) hl7:signatureCode CS 1 … 1 R (Gen...cht)   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 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2023 CDA participant Einweiser (DYNAMIC) Einweisender/Zuweisender Arzt hl7:participant 0 … 1 (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2023']] @typeCode 1 … 1 F REF hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2023 hl7:time TS.​DATE.​MIN 0 … 1 R Einweisungsdatum und -zeit (Gen...cht)   Beispiel <time value="201408091624"/> hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F PROV hl7:id II 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 1 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2012 CDA participant Hausarzt (DYNAMIC) Hausarzt hl7:participant 0 … 1 (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2012']] @typeCode cs 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root uid 1 … 1 F 1.2.276.0.76.10.2012 hl7:functionCode CE 1 … * M (Gen...cht) @code CONF 1 … 1 F PCP @codeSystem 1 … 1 F 2.16.840.1.113883.5.88 (Participation Function) hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode cs 1 … 1 F PROV hl7:id II 0 … * An dieser Stelle kann die Arztnummer (LANR) unter Angabe der dazugehörigen OID übermittelt werden. (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2011 CDA participant Notfallkontakt (DYNAMIC) Notfall-Kontakt / Auskunftsberechtigte Person hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2011']] @typeCode 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2011 hl7:time IVL_TS 0 … 1 (Gen...cht)   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:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F ECON hl7:code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2021 CDA participant Angehörige (DYNAMIC) Angehörige hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2021']] @typeCode 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2021 hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F PRS hl7:code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2022 CDA participant Kostentraeger (DYNAMIC) Kostenträger/Versicherung hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2022']] @typeCode cs 1 … 1 F HLD hl7:templateId II 1 … * M (Gen...cht) @root uid 1 … 1 F 1.2.276.0.76.10.2022 hl7:time IVL_TS 0 … 1 Hier muss immer ein Quartalsende angegeben sein (MM/YY) => YYYYMMDD, z. B. Quartal I/2016, Quartalsende ist demnach März 2016 und wird zu 20160331 (Gen...cht)   Beispiel <time>   <high value="20131231"/></time> hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode cs 1 … 1 F POLHOLD hl7:id II 0 … * Versichertennummern (Gen...cht) hl7:code CE 0 … 1 Versichertenstatus (Gen...cht)   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 CV 0 … 1 Codierungen des Versichertenstatus im Rahmen der GKV (Gen...cht) 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 CV 0 … * Weitere Codierungen des Versichertenstatus (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht)   Schematron assert role  error     test not(hl7:code[@code='FAMDEP']) or hl7:associated​Person     Meldung Wenn das Versicherungsverhältnis "familienversichert" ist, dann muss eine associatedPerson angegeben sein   hl7:scoping​Organization 1 … 1 In 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) angegeben (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2025 CDA participant Ansprechpartner (DYNAMIC) Fachlicher Ansprechpartner hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2025']] @typeCode 1 … 1 F CALLBCK hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2025 hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F PROV hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 1 … * M (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2026 CDA participant Betreuungsorganisation (DYNAMIC) Betreuende Organisation hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2026']] @typeCode 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2026 hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F CAREGIVER hl7:scoping​Organization 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2024 CDA participant Weitere Beteiligte (DYNAMIC) Weitere Beteiligte hl7:participant 0 … * (Gen...cht) @typeCode cs 1 … 1 R Typischerweise 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) @context​Control​Code 1 … 1 F OP hl7:functionCode CE 0 … 1 (Gen...cht)   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_TS 0 … 1 (Gen...cht) hl7:associated​Entity 1 … 1 R (Gen...cht) @classCode cs 1 … 1 R   CONF Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19313 RoleClassAssociative (DYNAMIC) hl7:id II 0 … * (Gen...cht) hl7:code CE 0 … 1 (Gen...cht) @codeSystem CONF 0 … 1 F 2.16.840.1.113883.5.111 (RoleCode) hl7:addr AD 0 … * (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2027 CDA encompassingEncounter Patientenkontakt (DYNAMIC) Patientenkontakt (Aufenthalt) hl7:componentOf 0 … 1 (Gen...cht) @typeCode cs 0 … 1 F COMP hl7:encompassing​Encounter 1 … 1 R (Gen...cht) @classCode cs 0 … 1 F ENC @moodCode cs 0 … 1 F EVN hl7:id II 0 … 1 Identifikationselement zur Aufnahme der Aufenthalts-Identifikation (Gen...cht) hl7:code CE 1 … 1 M (Gen...cht)   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"/> Auswahl 1 … 1 Elemente in der Auswahl: hl7:effectiveTime[hl7:high] hl7:effectiveTime[@value] hl7:effectiveTime IVL_TS  … 1 R Zeitraum (Gen...cht) 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  … 1 R Bestimmter Tag (Gen...cht) wo [@value] @value 1 … 1 R   Beispiel Am 7. Juni 2011 (ambulanter Besuch ohne genauere Zeitangaben des Tages) <effectiveTime value="20110607"/> hl7:responsible​Party 0 … 1 (Gen...cht) hl7:assignedEntity 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 R von 1.2.276.0.76.10.90021 Encounter Location (DYNAMIC) hl7:location 0 … 1 R (Gen...cht) @typeCode 0 … 1 F LOC   Beispiel <location typeCode="LOC">   <healthCareFacility classCode="SDLOC">     <!-- ... -->   </healthCareFacility></location> hl7:health​Care​Facility 1 … 1 M (Gen...cht) @classCode 0 … 1 F SDLOC   Beispiel <healthCareFacility classCode="SDLOC">   <serviceProviderOrganization classCode="ORG" determinerCode="INSTANCE">     <!-- ... -->   </serviceProviderOrganization></healthCareFacility> hl7:service​Provider​Organization 1 … 1 M (Gen...cht) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE   Beispiel <serviceProviderOrganization classCode="ORG" determinerCode="INSTANCE">   <name/>  <addr>     <!-- ... -->   </addr></serviceProviderOrganization> hl7:id II 1 … * R (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 1 … * M (Gen...cht) hl7:addr AD 1 … 1 M (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2015 Auftragsidentifikation (DYNAMIC) hl7:inFulfillmentOf 0 … 1 (Gen...cht)   genea-data​element-1.2270  Anforderung  GENeALYSE Datensatz @typeCode 1 … 1 F FLFS hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2015 hl7:order 1 … 1 M Auftrag (Gen...cht) @classCode 1 … 1 F ACT @moodCode 1 … 1 F RQO hl7:id II 1 … 1 M Auftragsnummer, Anforderungsnummer (Gen...cht) Eingefügt 0 … 1 von 1.3.6.1.4.1.19376.1.3.3.1.6 Ordering Provider (DYNAMIC) hl7:participant 0 … 1 Referral Ordering Physician (Gen...cht)   genea-data​element-1.2130  Anforderung durch  GENeALYSE Datensatz @typeCode cs 1 … 1 F REF hl7:templateId II 1 … 1 (Gen...cht) @root uid 1 … 1 F 1.3.6.1.4.1.19376.1.3.3.1.6 hl7:time IVL_TS 1 … 1 R This element represents the date and time the order was placed. Time MAY be present. (Gen...cht) hl7:associated​Entity 1 … 1 (Gen...cht) hl7:addr AD 1 … * R The address of this person (referral ordering physician) SHALL be present. (Gen...cht) hl7:telecom TEL 1 … * R The telecom of this person (referral ordering physician) SHALL be present. (Gen...cht)   Schematron assert role  error     test not(hl7:assigned​Person) or hl7:assigned​Person/hl7:name     Meldung The <name> sub-element SHALL be present when <assignedPerson> present.   hl7:associated​Person 0 … 1 R (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) hl7:component 1 … 1 (Gen...cht) @typeCode cs 0 … 1 F COMP @context​Conduction​Ind bl 1 … 1 R hl7:structuredBody 1 … 1 (Gen...cht) @classCode cs 0 … 1 F DOCBODY @moodCode cs 0 … 1 F EVN   Constraint Abschnitte 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 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.13 Zusammenfassung Section (DYNAMIC) (Gen...cht) hl7:section 1 … * R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.18 Testdetails Section (DYNAMIC) (Gen...cht) hl7:section 1 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.19 Testinformationen Section (DYNAMIC) (Gen...cht)