2.16.840.1.113883.2.6.60.13.10.1/static-2018-08-09T175259

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Id2.16.840.1.113883.2.6.60.13.10.1Gültigkeit2018‑08‑09 17:52:59
StatusKyellow.png EntwurfVersions-Label
NameGenetischerBefundberichtAnzeigenameGenetischer Befundbericht
Beschreibung
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.1
KlassifikationCDA Document Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 20 Templates
Benutzt als NameVersion
1.2.276.0.76.10.2001InklusionKgreen.png CDA recordTargetDYNAMIC
1.2.276.0.76.10.2007InklusionKgreen.png CDA author PersonDYNAMIC
1.2.276.0.76.10.2017InklusionKyellow.png CDA dataEntererDYNAMIC
1.2.276.0.76.10.2018InklusionKyellow.png CDA InformantDYNAMIC
1.2.276.0.76.10.2004InklusionKgreen.png CDA custodianDYNAMIC
1.2.276.0.76.10.2005InklusionKgreen.png CDA informationRecipientDYNAMIC
1.2.276.0.76.10.2020InklusionKyellow.png CDA legalAuthenticatorDYNAMIC
1.2.276.0.76.10.2019InklusionKgreen.png CDA authenticatorDYNAMIC
1.2.276.0.76.10.2023InklusionKyellow.png CDA participant EinweiserDYNAMIC
1.2.276.0.76.10.2012InklusionKyellow.png CDA participant HausarztDYNAMIC
1.2.276.0.76.10.2011InklusionKyellow.png CDA participant NotfallkontaktDYNAMIC
1.2.276.0.76.10.2021InklusionKyellow.png CDA participant AngehörigeDYNAMIC
1.2.276.0.76.10.2022InklusionKgreen.png CDA participant KostentraegerDYNAMIC
1.2.276.0.76.10.2025InklusionKyellow.png CDA participant AnsprechpartnerDYNAMIC
1.2.276.0.76.10.2026InklusionKyellow.png CDA participant BetreuungsorganisationDYNAMIC
1.2.276.0.76.10.2024InklusionKgreen.png CDA participant Weitere BeteiligteDYNAMIC
1.2.276.0.76.10.2027InklusionKgreen.png CDA encompassingEncounter PatientenkontaktDYNAMIC
2.16.840.1.113883.2.6.60.13.10.13ContainmentKyellow.png Zusammenfassung SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.18ContainmentKyellow.png Testdetails SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.19ContainmentKyellow.png Testinformationen SectionDYNAMIC
BeziehungAdaptation: Template 2.16.840.1.113883.10.20.20 Genetic Testing Report (2013‑02‑01)
ref
gtr-

Spezialisierung: Template 2.16.840.1.113883.10.12.2 CDA ClinicalDocument (with StructuredBody) (2005‑09‑07)
ref
ad1bbr-
Beispiel
Beispiel
<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>
ItemDTKardKonfBeschreibungLabel
hl7:ClinicalDocument
(Gen...cht)
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Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:realmCode
CS0 … 1R(Gen...cht)
Treetree.pnghl7:typeId
II1 … 1R(Gen...cht)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.1.3
Treeblank.pngTreetree.png@extension
st1 … 1FPOCD_HD000040
Treetree.pnghl7:templateId
II1 … 1M(Gen...cht)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20
Treetree.pnghl7:templateId
II1 … 1R(Gen...cht)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.1
Treetree.pnghl7:id
II1 … 1R(Gen...cht)
Treetree.pnghl7:code
CE1 … 1R(Gen...cht)
Treeblank.pngTreetree.png@code
CONF0 … 1F51969-4
Treeblank.pngTreetree.png@codeSystem
0 … 1F2.16.840.1.113883.6.1 (LOINC)
Treeblank.pngTreetree.png@displayName
0 … 1FGenetic analysis summary report
Treetree.pnghl7:title
1 … 1RStandardtitel ist "Genetischer Befundbericht"(Gen...cht)
Treetree.pnghl7:effectiveTime
TS1 … 1R(Gen...cht)
Treetree.pnghl7:confidentialityCode
CE1 … 1R(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)
Treetree.pnghl7:language​Code
CS0 … 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)
Treetree.pnghl7:setId
II0 … 1(Gen...cht)
Treetree.pnghl7:versionNumber
INT0 … 1(Gen...cht)
Eingefügt1 … 1M von 1.2.276.0.76.10.2001 CDA recordTarget (DYNAMIC)
Treetree.pnghl7:recordTarget
1 … 1M(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FRCT
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
 Beispiel<recordTarget typeCode="RCT" contextControlCode="OP">
  <patientRole classCode="PAT">
    <!-- ... -->
  </patientRole>
</recordTarget>
Treeblank.pngTreetree.pnghl7:patientRole
1 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPAT
 Beispiel<patientRole classCode="PAT">
  <id extension="186245" root="1.2.276.0.76.3.1.139.3.871"/>  <patient classCode="PSN" determinerCode="INSTANCE">
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Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *(Gen...cht)
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Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … *Adresse des Patienten(Gen...cht)
 Beispiel<addr use="HP">
  <streetName>Dorfstraße</streetName>  <houseNumber>54</houseNumber>  <postalCode>51371</postalCode>  <city>Leverkusen</city></addr>
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *Kontaktdaten des Patienten(Gen...cht)
 Beispiel<telecom use="H" value="tel:+4930140400"/><telecom use="MC" value="tel:+492211234567"/><telecom value="mailto:herberthannes.mustermann@provider.de"/>
Treeblank.pngTreeblank.pngTreetree.pnghl7:patient
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0 … 1FPSN
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0 … 1FINSTANCE
 Beispiel<patient classCode="PSN" determinerCode="INSTANCE">
  <name>
    <!-- ... -->
  </name>
  <administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/>  <birthTime value="19541223"/></patient>
Eingefügt1 … 1M von 1.2.276.0.76.10.90030 Personenname (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1MDie Reihenfolge der Namensbestandteile soll der typischen Schreibweise entsprechen. Zu beachten ist, dass prefix- und suffix-Elemente mit einem Leerzeichen enden müssen, wenn sie nicht unmittelbar an den folgenden Namensbestandteil anschließen sollen.
(Gen...cht)
 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>
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:prefix
ENXP0 … *Titel(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.png wo [@qualifier='AC']
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@qualifier
set_cs1 … 1FAC
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:given
ENXP0 … *Vorname(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:prefix
ENXP0 … *Namenszusatz(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.png wo [@qualifier='NB']
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@qualifier
set_cs1 … 1FNB
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:prefix
ENXP0 … *Vorsatzwort(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.png wo [@qualifier='VV']
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@qualifier
set_cs1 … 1FVV
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:family
ENXP0 … *Nachname(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:suffix
ENXP0 … *Suffix(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:administrative​Gender​Code
CE1 … 1RGeschlecht (administrativ) des Patienten(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.1 AdministrativeGender (DYNAMIC)
 Beispiel<administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:birthTime
TS.​DATE.​MIN1 … 1RGeburtsdatum des Patienten(Gen...cht)
 Beispiel<birthTime value="19491224"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:marital​Status​Code
CE0 … 1Familienstand des Patienten(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12212 MaritalStatus (DYNAMIC)
 Beispiel<maritalStatusCode code="S" displayName="Never Married" codeSystem="2.16.840.1.113883.5.2"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:religious​Affiliation​Code
CE0 … 1Religionszugehörigkeit des Patienten(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19185 ReligiousAffiliation (DYNAMIC)
 Beispiel<religiousAffiliationCode code="1077" displayName="Protestant" codeSystem="2.16.840.1.113883.5.1076"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:raceCode
NPdarf nicht verwendet werden(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:ethnic​Group​Code
NPdarf nicht verwendet werden(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:guardian
0 … *Vormund/Sachwalter des Patienten(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:guardian​Person
  • hl7:guardian​Organization
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:guardian​Person
(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:guardian​Organization
(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:birthplace
0 … 1Geburtsort des Patienten(Gen...cht)
 Beispiel<birthplace>
  <place>
    <addr>Hamburg</addr>  </place>
</birthplace>
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:place
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:language​Communication
0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:language​Code
CS0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:modeCode
CE0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:proficiency​Level​Code
CE0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:preference​Ind
BL0 … 1(Gen...cht)
Eingefügt1 … 1M von 1.2.276.0.76.10.2007 CDA author Person (DYNAMIC)
Treetree.pnghl7:author
1 … 1M(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FAUT
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
 Beispiel<author typeCode="AUT" contextControlCode="OP">
  <time value="201306101654"/>  <assignedAuthor classCode="ASSIGNED">
    <!-- ... -->
  </assignedAuthor>
</author>
Treeblank.pngTreetree.pnghl7:functionCode
CE0 … 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)
Treeblank.pngTreetree.pnghl7:time
TS.​DATE.​MIN1 … 1(Gen...cht)
Treeblank.pngTreetree.pnghl7:assignedAuthor
1 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FASSIGNED
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 1Fachgebiet/Spezialität des Gesundheitsdienstleister, z. B. Ärztin/Arzt für Allgemeinmedizin, Approbierte Ärztin/Approbierter Arzt, Fachärztin/Facharzt für Anästhesiologie und Intensivmedizin(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
1 … 1M(Gen...cht)
 Beispiel<representedOrganization classCode="ORG" determinerCode="INSTANCE">
  <name>
    <!-- ... -->
  </name>
</representedOrganization>
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2017 CDA dataEnterer (DYNAMIC)
Treetree.pnghl7:dataEnterer
0 … 1(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FENT
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
Treeblank.pngTreetree.pnghl7:time
TS0 … 1gibt den Zeitpunkt an, an dem der Datentypist seinen Beitrag am Dokument beendet hat(Gen...cht)
Treeblank.pngTreetree.pnghl7:assignedEntity
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2018 CDA Informant (DYNAMIC)
Treetree.pnghl7:informant
0 … *(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FINF
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:assignedEntity[hl7:assigned​Person]
  • hl7:relatedEntity
Treeblank.pngTreeblank.pngTreetree.pnghl7:assignedEntity
0 … 1Gesundheitsdienstleister(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:relatedEntity
0 … 1Verwandte, Bekannte, Sozialhelfer, Betreuer/Erzieher(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90020 RelatedEntity (Body) (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
cs1 … 1R
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19316 RoleClassMutualRelationship (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:effectiveTime
IVL_TS0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:relatedPerson
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Eingefügt1 … 1M von 1.2.276.0.76.10.2004 CDA custodian (DYNAMIC)
Treetree.pnghl7:custodian
1 … 1M(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FCST
 Beispiel<custodian typeCode="CST">
  <assignedCustodian classCode="ASSIGNED">
    <representedCustodianOrganization classCode="ORG" determinerCode="INSTANCE">
      <!-- ... -->
    </representedCustodianOrganization>
  </assignedCustodian>
</custodian>
Treeblank.pngTreetree.pnghl7:assignedCustodian
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FASSIGNED
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Custodian​Organization
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2005 CDA informationRecipient (DYNAMIC)
Treetree.pnghl7:information​Recipient
0 … *(Gen...cht)
Treeblank.pngTreetree.png@typeCode
cs0 … 1 Typ des Empfängers: im @typeCode der Participation kann angegeben werden, ob es sich um einen primären Empfänger handelt (default) oder einen sekundären Empfänger („CC Kopie").
Der typeCode PRCP ist der default.
 CONF
@typeCode muss "PRCP" sein
oder
@typeCode muss "TRC" sein
Treeblank.pngTreetree.pnghl7:intended​Recipient
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Auswahl1 … *
Wenn der beabsichtigte Empfänger eine Person ist, dann wird dies durch die Anwesenheit der Person Klasse mit oder ohne zugehörige Organisation spezifiziert. Wenn der beabsichtigte Empfänger eine Organisation ist, wird nur die Organisation angegeben, die Person fehlt.
Elemente in der Auswahl:
  • hl7:information​Recipient
  • hl7:received​Organization
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:information​Recipient
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:received​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2020 CDA legalAuthenticator (DYNAMIC)
Treetree.pnghl7:legalAuthenticator
0 … 1(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FLA
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
Treeblank.pngTreetree.pnghl7:time
TS1 … 1R(Gen...cht)
Treeblank.pngTreetree.pnghl7:signatureCode
CS1 … 1R(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
Treeblank.pngTreetree.pnghl7:assignedEntity
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2019 CDA authenticator (DYNAMIC)
Treetree.pnghl7:authenticator
0 … *(Gen...cht)
Treeblank.pngTreetree.png@typeCode
cs0 … 1FAUTHEN
Treeblank.pngTreetree.pnghl7:time
TS1 … 1R(Gen...cht)
Treeblank.pngTreetree.pnghl7:signatureCode
CS1 … 1R(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
Treeblank.pngTreetree.pnghl7:assignedEntity
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2023 CDA participant Einweiser (DYNAMIC)
Einweisender/Zuweisender Arzt
Treetree.pnghl7:participant
0 … 1(Gen...cht)
Treeblank.png wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2023']]
Treeblank.pngTreetree.png@typeCode
1 … 1FREF
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
1 … 1F1.2.276.0.76.10.2023
Treeblank.pngTreetree.pnghl7:time
TS.​DATE.​MIN0 … 1REinweisungsdatum und -zeit(Gen...cht)
 Beispiel<time value="201408091624"/>
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
1 … 1FPROV
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2012 CDA participant Hausarzt (DYNAMIC)
Hausarzt
Treetree.pnghl7:participant
0 … 1(Gen...cht)
Treeblank.png wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2012']]
Treeblank.pngTreetree.png@typeCode
cs1 … 1FIND
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
uid1 … 1F1.2.276.0.76.10.2012
Treeblank.pngTreetree.pnghl7:functionCode
CE1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@code
CONF1 … 1FPCP
Treeblank.pngTreeblank.pngTreetree.png@codeSystem
1 … 1F2.16.840.1.113883.5.88 (Participation Function)
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
cs1 … 1FPROV
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *An dieser Stelle kann die Arztnummer (LANR) unter Angabe der dazugehörigen OID übermittelt werden.
(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2011 CDA participant Notfallkontakt (DYNAMIC)
Notfall-Kontakt / Auskunftsberechtigte Person
Treetree.pnghl7:participant
0 … *(Gen...cht)
Treeblank.png wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2011']]
Treeblank.pngTreetree.png@typeCode
1 … 1FIND
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
1 … 1F1.2.276.0.76.10.2011
Treeblank.pngTreetree.pnghl7:time
IVL_TS0 … 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>
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
1 … 1FECON
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 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)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.png