2.16.840.1.113883.2.6.60.13.10.18/static-2018-10-25T133648

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	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)