2.16.840.1.113883.2.6.60.13.10.18

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Template TestdetailsSection

Beschreibung

Die Testdetails-Section ist die Vorlage für alle Unter-Sections, welche spezifische Angaben zu den durchgeführten genetischen Tests beinhalten.

Aktuelle Version

Id2.16.840.1.113883.2.6.60.13.10.18Gültigkeit2018‑10‑25 13:36:48
StatusKyellow.png EntwurfVersions-Label
NameTestdetailsSectionAnzeigenameTestdetails 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
Benutzt 7 Templates
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.2ContainmentKyellow.png Clinical Genomic StatementDYNAMIC
2.16.840.1.113883.10.20.20.1.11ContainmentKyellow.png Indications SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.10ContainmentKyellow.png Test Performed SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.12ContainmentKyellow.png Findings SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.13ContainmentKyellow.png Interpretation SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9ContainmentKyellow.png Test Information SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.7ContainmentKyellow.png Specimen SectionDYNAMIC
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>
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(Tes...ion)
 ConstraintEN-US.png Sub-sections of the TestDetailsSection SHOULD appear in the order presented in this implementation guide.
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uid1 … 1F2.16.840.1.113883.2.6.60.13.10.18
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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.
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ST0 … 1R(Tes...ion)
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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
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0 … *REN-US.png Clinical Genomic Statement
Beinhaltet 2.16.840.1.113883.10.20.20.2 Clinical Genomic Statement (DYNAMIC)
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0 … 1REN-US.png Indications Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.11 Indications Section (DYNAMIC)
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0 … 1REN-US.png Test Performed Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.10 Test Performed Section (DYNAMIC)
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0 … 1REN-US.png Findings Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.12 Findings Section (DYNAMIC)
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0 … 1REN-US.png Interpretation Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.13 Interpretation Section (DYNAMIC)
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0 … 1EN-US.png Test Information Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.9 Test Information Section (DYNAMIC)
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0 … 1EN-US.png Specimen Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.7 Specimen Section (DYNAMIC)
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