2.16.840.1.113883.2.6.60.13.10.13/static-2018-10-25T120403

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Id2.16.840.1.113883.2.6.60.13.10.13Gültigkeit2018‑10‑25 12:04:03
StatusKyellow.png EntwurfVersions-Label
NameZusammenfassungSectionAnzeigenameZusammenfassung Section
Beschreibung
Die Zusammenfassung-Section besteht aus mehreren Unter-Sections, welche die zusammenfassende Interpretation der verschiedenen durchgeführten Tests als auch Indikation, Bemerkungen und Informationen zum Probenmaterial enthalten.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.13
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 5 Templates
Benutzt als NameVersion
2.16.840.1.113883.2.6.60.13.10.9ContainmentKyellow.png Indikation SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.8ContainmentKyellow.png Zusammenfassung Durchgeführte Untersuchungen SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.10ContainmentKyellow.png Zusammenfassende Interpretation SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.14ContainmentKyellow.png Empfehlungen SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.17ContainmentKyellow.png Untersuchungsmaterial SectionDYNAMIC
BeziehungAdaptation: Template 2.16.840.1.113883.10.20.20.1.1 Summary Section (2013‑02‑01)
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Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)
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Beispiel
Beispiel
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  <templateId root="2.16.840.1.113883.10.20.20.1.1"/>  <title>Summary</title>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.11"/>      <title>Indications</title>      <text>
        <list>
          <item>
            <content ID="a2">Indication: Profound sensorineural hearing loss</content>          </item>        </list>      </text>      <entry>
        <observation classCode="COND" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>          <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>          <code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>          <value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">
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              <reference value="#a2"/>            </originalText>          </value>          <reference typeCode="XCRPT">
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              <id root="2.16.840.1.113883.19.1.2765"/>            </externalObservation>          </reference>        </observation>      </entry>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.1.6"/>      <title>Summary of Tests Performed</title>      <text>
        <list>
          <item>
            <content ID="a1">
GJB2 Full Gene Test
</content>          </item>          <item>
            <content ID="a5">
GJB6-D13S1830 deletion
</content>          </item>          <item>
            <content ID="a3">
Mitochondrial Hearing Loss Mutation Test
</content>          </item>        </list>      </text>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.1.1"/>      <title>Overall Interpretation</title>      <text>
        <list>
          <item>
            <content styleCode="Bold">Inconclusive.</content>          </item>          <item>
            <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).
</content>          </item>          <item>
            <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.
</content>          </item>          <item>
            <content>
Mitochondrial Hearing Loss mutations: Targeted bidirectional
sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the
presence of these mutations.
</content>          </item>        </list>      </text>      <entry>
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            <observation classCode="COND" moodCode="EVN">
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            <observation classCode="OBS" moodCode="DEF">
              <templateId root="2.16.840.1.113883.10.20.20.2.5.5"/>              <code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>              <statusCode code="completed"/>              <effectiveTime value="200512011500"/>              <value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>              <performer typeCode="PRF">
                <assignedEntity>
                  <id root="2.16.840.1.113883.19.3.2409.345"/>                  <representedOrganization>
                    <name>The New Genetic Testing Analysis Service</name>                  </representedOrganization>                </assignedEntity>              </performer>            </observation>          </entryRelationship>        </observation>      </entry>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.1.5"/>      <title>Recommendations</title>      <text>
        <list>
          <item>
            <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.
</content>          </item>        </list>      </text>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.7"/>      <title>Specimen and Genomic Source Class</title>      <text>
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          <item>Peripheral Blood</item>          <item>Genomic source class: Germline</item>        </list>      </text>      <entry>
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