| 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-dataelement-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 |
|---|
| | | | | (Int...ion) | | |  | | genea-dataelement-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) |
|
Entwurf
