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Template Testdetails Section 2018‑10‑25 13:36:48

Id2.16.840.1.113883.2.6.60.13.10.18Gültigkeit ab2018‑10‑25 13:36:48
Statusdraft EntwurfVersions-Label
NameTestdetailsSectionBezeichnungTestdetails Section
Beschreibung
Die Testdetails-Section ist die Vorlage für alle Unter-Sections, welche spezifische Angaben zu den durchgeführten genetischen Tests beinhalten.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.18
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt von / Benutzt
Benutzt von 0 Transactions und 1 Template, Benutzt 7 Templates
Benutzt von als NameVersion
2.16.840.1.113883.2.6.60.13.10.1Containmentdraft Genetischer Befundbericht2018‑08‑09 17:52:59
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.1.7Containmentdraft Specimen SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9Containmentdraft Test Information SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.10Containmentdraft Test Performed SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.11Containmentdraft Indications SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.12Containmentdraft Findings SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.13Containmentdraft Interpretation SectionDYNAMIC
2.16.840.1.113883.10.20.20.2Containmentdraft Clinical Genomic StatementDYNAMIC
BeziehungAdaptation: Template 2.16.840.1.113883.10.20.20.1.8 Test Details Section (2013‑02‑01)
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gtr-

Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)
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ad1bbr-
Beispiel
Beispiel
<section>
  <templateId root="2.16.840.1.113883.10.20.20.1.8"/>  <title>Genetic Variations</title>  <entry>
    <observation classCode="OBS" moodCode="EVN">
      <templateId root="2.16.840.1.113883.10.20.20.2.1"/>      <id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>      <code code="55208-3" codeSystemName="LOINC" displayName="DNA Analysis Discrete Sequence Variant Panel"/>      <statusCode code="completed"/>      <effectiveTime value="200512011500"/>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.5"/>          <code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>          <value xsi:type="CD" code="GJB2" codeSystemName="HGNC"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.8"/>          <code code="48013-7" codeSystemName="LOINC" displayName="Genomic Reference Sequence Identifier"/>          <value xsi:type="CD" code="NC_000013.10" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>          <code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>          <value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.7"/>          <code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>          <value xsi:type="CD" code="rs72474224" codeSystemName="dbSNP"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.2"/>          <code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>          <value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.2.1"/>          <code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>          <value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.1"/>          <code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>          <value xsi:type="CD" code="Val37Ile"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.1.1"/>          <code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>          <value xsi:type="CD" code="LA6698-0" displayName="Missense"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.3"/>          <code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>          <value xsi:type="ST">Exon 2</value>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.2.1.4"/>          <code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>          <value xsi:type="CD" code="LA6705-3" codeSystemName="LOINC" displayName="Homozygous"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="RSON">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SPRT">
        <observation classCode="OBS" moodCode="DEF">
          <templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>          <code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>          <value xsi:type="CD" code="LA6668-3" codeSystemName="LOINC" displayName="Pathogenic"/>        </observation>      </entryRelationship>    </observation>  </entry>  <entry>
    <observation classCode="OBS" moodCode="EVN">
      <templateId root="2.16.840.1.113883.10.20.20.2.1"/>      <id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>      <code code="55208-3" codeSystemName="LOINC" displayName=" DNA Analysis Discrete Sequence Variant Panel"/>      <statusCode code="completed"/>      <effectiveTime value="200512011500"/>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>          <value xsi:type="CD" code="GJB2" codeSystemName="HUGO"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>          <value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>          <value xsi:type="CD" code="rs2274084" codeSystemName="dbSNP"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>          <value xsi:type="CD" code="79G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>          <value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>          <value xsi:type="CD" code="Val27Ile"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>          <value xsi:type="CD" code="LA6698-0" displayName="Missense"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>          <value xsi:type="ST">Exon 2</value>        </observation>      </entryRelationship>      <entryRelationship typeCode="SUBJ">
        <observation classCode="OBS" moodCode="EVN">
          <code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>          <value xsi:type="CD" code="LA6706-1" codeSystemName="LOINC" displayName="Heterozygous"/>        </observation>      </entryRelationship>      <entryRelationship typeCode="RSON">
        <observation classCode="OBS" moodCode="EVN">
          <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>          <code/>        </observation>      </entryRelationship>      <entryRelationship typeCode="SPRT">
        <observation classCode="OBS" moodCode="DEF">
          <templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>          <code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>          <value xsi:type="CD" code="LA6675-8" codeSystemName="LOINC" displayName="Benign"/>        </observation>      </entryRelationship>    </observation>  </entry>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.10"/>      <title>Tests Performed</title>      <text>
        <list>
          <item>
            <content>
GJB2 Full Gene Test
</content>          </item>        </list>      </text>      <entry>
        <observation classCode="OBS" moodCode="EVN">
          <templateId root="2.16.840.1.113883.10.20.20.3.4"/>          <code displayName="Test Performed"/>          <statusCode code="completed"/>          <effectiveTime value="200512011500"/>          <value xsi:type="CD" code="CX26FULL" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 26 Full Gene Test">
            <originalText>
              <reference value="#a1"/>            </originalText>          </value>          <entryRelationship typeCode="RSON">
            <observation classCode="COND" moodCode="EVN">
              <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>              <code/>            </observation>          </entryRelationship>        </observation>      </entry>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.12"/>      <title>Findings</title>      <text>
        <list>
          <item>
            <content>
DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2
</content>          </item>          <item>
            <content>
INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2
</content>          </item>        </list>      </text>    </section>  </component>  <component>
    <section>
      <templateId root="2.16.840.1.113883.10.20.20.1.13"/>      <title>Interpretation</title>      <text>
        <list>
          <item>
            <content>Mutations interpretation</content>            <list>
              <item>
                <content>V37I - Pathogenic</content>              </item>              <item>
                <content>V27I - Benign</content>              </item>            </list>          </item>          <item>
            <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).
</content>          </item>        </list>      </text>    </section>  </component></section>
ItemDTKardKonfBeschreibungLabel
hl7:section
Testdotstion
 Constrainten-US Sub-sections of the TestDetailsSection SHOULD appear in the order presented in this implementation guide.
hl7:templateId
II1 … 1MTestdotstion
@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.18
hl7:code
0 … 1Testdotstion
 Constrainten-US
Gtr Test Details Section MAY contain a code that represents "Detailed report of a specific genetic testing",
e.g., Genetic Variations, Cytogenetics, Gene Expression, etc.
hl7:title
ST0 … 1RTestdotstion
 Constrainten-US
Title SHALL contain text that implies "Detailed report of a specific genetic testing", e.g., Genetic Variations,
Cytogenetics, Gene Expression, etc.
 CONF
Elementinhalt muss "Hintergrundinformationen zum Test" sein
hl7:entry
0 … *Ren-US Clinical Genomic Statement
Beinhaltet 2.16.840.1.113883.10.20.20.2 Clinical Genomic Statement (DYNAMIC)		Testdotstion
hl7:section
0 … 1Ren-US Indications Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.11 Indications Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1Ren-US Test Performed Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.10 Test Performed Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1Ren-US Findings Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.12 Findings Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1Ren-US Interpretation Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.13 Interpretation Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1en-US Test Information Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.9 Test Information Section (DYNAMIC)		Testdotstion
hl7:section
0 … 1en-US Specimen Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.7 Specimen Section (DYNAMIC)		Testdotstion