2.16.840.1.113883.10.20.20.1.13/static-2013-02-01T000000

Id	2.16.840.1.113883.10.20.20.1.13 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	InterpretationSection	Bezeichnung	Interpretation Section
Beschreibung The InterpretationSection nests within the TestDetailsSection and its text attribute consists of narrative describing the interpretation of the genetic test results. The InterpretationSection may also consist of structured interpretations that shall reference or be referenced from Clinical Genomic Statement instances
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.13
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit	Assoziiert mit 1 Konzept Id Name Datensatz genea-data​element-1.5000  Interpretation / Expertenmeinung  GENeALYSE Datensatz
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.2.5 Containment Interpretive Phenotype DYNAMIC
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.13"/>  <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>
Item DT Kard Konf Beschreibung Label hl7:section (Int...ion)   genea-data​element-1.5000  Interpretation / Expertenmeinung  GENeALYSE Datensatz hl7:templateId II 1 … 1 M (Int...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.13 hl7:code 0 … 1 R (Int...ion)   Constraint Gtr Interpretation Section MAY contain a code that represents interpretations of genetic testing results/ findings. hl7:title 1 … 1 R (Int...ion)   Constraint Title SHALL contain text that implies "Interpretations of genetic testing results/findings" hl7:entry 0 … * R Interpretive Phenotype Beinhaltet 2.16.840.1.113883.10.20.20.2.5 Interpretive Phenotype (DYNAMIC) (Int...ion)