Entwurf| Beschreibung |
Die Testinterpretation-Section beinhaltet die narrative Beschreibung der Interpretation genetischer Testergebnisse. |
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Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)
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| 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 | |
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| hl7:section | Test tion | |||||
| hl7:templateId | II | 1 … 1 | M | Testtion | ||
| @root | uid | 1 … 1 | F | 2.16.840.1.113883.2.6.60.13.10.15 | ||
| hl7:code | 0 … 1 | R | Testtion | |||
| Constraint |  Gtr Interpretation Section MAY contain a code that represents interpretations of genetic testing results/ findings. | |||||
| hl7:title | ST | 1 … 1 | R | Testtion | ||
| Constraint | Title SHALL contain text that implies "Interpretations of genetic testing results/findings" | |||||
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| hl7:entry | 0 … * | R | Interpretive Phenotype Beinhaltet 2.16.840.1.113883.10.20.20.2.5 Interpretive Phenotype (DYNAMIC) | Testtion | ||