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Template TestdetailsSection

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

Aktuelle Version

Id

2.16.840.1.113883.2.6.60.13.10.18

Gültigkeit

2018‑10‑25 13:36:48

Status

Entwurf

Versions-Label

Name

TestdetailsSection

Bezeichnung

Testdetails Section

Beschreibung

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

Kontext

Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.18

Klassifikation

CDA Section level template

Offen/Geschlossen

Offen (auch andere als die definierten Elemente sind erlaubt)

Benutzt

Benutzt 7 Templates

Benutzt	als	Name	Version
2.16.840.1.113883.10.20.20.2	Containment	Clinical Genomic Statement	DYNAMIC
2.16.840.1.113883.10.20.20.1.11	Containment	Indications Section	DYNAMIC
2.16.840.1.113883.10.20.20.1.10	Containment	Test Performed Section	DYNAMIC
2.16.840.1.113883.10.20.20.1.12	Containment	Findings Section	DYNAMIC
2.16.840.1.113883.10.20.20.1.13	Containment	Interpretation Section	DYNAMIC
2.16.840.1.113883.10.20.20.1.9	Containment	Test Information Section	DYNAMIC
2.16.840.1.113883.10.20.20.1.7	Containment	Specimen Section	DYNAMIC

Beziehung

Adaptation: Template 2.16.840.1.113883.10.20.20.1.8 Test Details Section (2013‑02‑01)

ref

gtr-

Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)

ref

ad1bbr-

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>

Item

DT

Kard

Konf

Beschreibung

Label

hl7:section

(Tes...ion)

Constraint

Sub-sections of the TestDetailsSection SHOULD appear in the order presented in this implementation guide.

hl7:templateId

II

1 … 1

M

(Tes...ion)

@root

uid

1 … 1

F

2.16.840.1.113883.2.6.60.13.10.18

hl7:code

0 … 1

(Tes...ion)

Constraint

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

ST

0 … 1

R

(Tes...ion)

Constraint

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 … *

R

Clinical Genomic Statement
Beinhaltet 2.16.840.1.113883.10.20.20.2 Clinical Genomic Statement (DYNAMIC)

(Tes...ion)

hl7:section

0 … 1

R

Indications Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.11 Indications Section (DYNAMIC)

(Tes...ion)

hl7:section

0 … 1

R

Test Performed Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.10 Test Performed Section (DYNAMIC)

(Tes...ion)

hl7:section

0 … 1

R

Findings Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.12 Findings Section (DYNAMIC)

(Tes...ion)

hl7:section

0 … 1

R

Interpretation Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.13 Interpretation Section (DYNAMIC)

(Tes...ion)

hl7:section

0 … 1

Test Information Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.9 Test Information Section (DYNAMIC)

(Tes...ion)

hl7:section

0 … 1

Specimen Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.7 Specimen Section (DYNAMIC)

(Tes...ion)

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2018-10-25 13:36:48 (In Entwicklung)

2.16.840.1.113883.2.6.60.13.10.18

Template TestdetailsSection

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