2.16.840.1.113883.10.20.20.1.13/static-2013-02-01T000000: Unterschied zwischen den Versionen

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<table xmlns="http://www.w3.org/1999/xhtml" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor " style="background: transparent;"><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Id</th><td style="text-align: left;">2.16.840.1.113883.10.20.20.1.13 <span xmlns="" class="repobox"><div class="repo ref sspacing">ref</div><div class="non-selectable repo refvalue sspacing">gtr-</div></span></td><th style="width: 20em; text-align: left;">Gültigkeit</th><td style="text-align: left;">2013‑02‑01</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Status</th><td style="text-align: left;">[[File:Kyellow.png|14px]] Entwurf</td><th style="width: 20em; text-align: left;">Versions-Label</th><td style="text-align: left;"></td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Name</th><td style="text-align: left;">InterpretationSection</td><th style="width: 20em; text-align: left;">Bezeichnung</th><td style="text-align: left;">Interpretation Section</td></tr><td style="text-align: left;" colspan="4"><table id="templateDescTable" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;">Beschreibung</td></tr><tr><td><div><span style="color: grey;">[[File:EN-US.png]] 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</span></div></td></tr></table></td><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Kontext</th><td style="text-align: left;" colspan="3">Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.13</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Klassifikation</th><td style="text-align: left;" colspan="3">CDA Section level template</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Offen/Geschlossen</th><td style="text-align: left;" colspan="3">Offen (auch andere als die definierten Elemente sind erlaubt)</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Assoziiert mit</th><td style="text-align: left;" colspan="3"><table id="assocsTable" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;">Assoziiert mit 1 Konzept</td></tr><tr><td><div><table width="100%" border="0" cellspacing="1" cellpadding="3" class="artdecor " style="background: transparent;"><tr><th style="width: 20%; text-align: left;">Id</th><th style="width: 60%; text-align: left;">Name</th><th style="width: 20%; text-align: left;">Datensatz</th></tr><tr><td style="text-align: left; vertical-align: top; width: 1%;">genea-data&#8203;element-1.5000</td><td style="vertical-align: top;">[[File:Kyellow.png|14px]] Interpretation / Expertenmeinung </td><td style="text-align: left; vertical-align: top;">[[File:Kyellow.png|14px]] GENeALYSE Datensatz  </td></tr></table></div></td></tr></table></td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Benutzt</th><td style="text-align: left;" colspan="3"><table width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;">Benutzt 1 Template</td></tr><tr><td><div><table width="100%" border="0" cellspacing="1" cellpadding="3" class="artdecor " style="background: transparent;"><tr><th style="width: 20%; text-align: left;">Benutzt</th><th style="width: 1%; text-align: left;"> als </th><th style="width: 60%; text-align: left;">Name</th><th style="width: 19%; text-align: left;">Version</th></tr><tr><td style="text-align: left;">2.16.840.1.113883.10.20.20.2.5</td><td style="text-align: left;">Containment</td><td style="text-align: left;">[[File:Kyellow.png|14px]] Interpretive Phenotype</td><td style="text-align: left;">DYNAMIC</td></tr></table></div></td></tr></table></td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Beziehung</th><td style="text-align: left;" colspan="3">Spezialisierung: Template 2.16.840.1.113883.10.12.201 <i>CDA Section </i> (2005‑09‑07) <span xmlns="" class="repobox"><div class="repo ref sspacing">ref</div><div class="non-selectable repo refvalue sspacing">ad1bbr-</div></span></td></tr><tr class="explabel " style="vertical-align: top;"><th class="" style="width: 20em; text-align: left;">Beispiel</th><td colspan="3" class="explabelblue"><table width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;" class="togglertreetable"><span class="expcaption">Beispiel</span></td></tr><tr><td><span style="font-family: Courier, 'Courier New', monospace; "><span style="display: block;" class="explrendered"><span class="ppsign">&lt;</span><span class="ppelement">section</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">  <span class="ppsign">&lt;</span><span class="ppelement">templateId</span> <span class="ppattribute">root</span><span class="ppsign">="</span><span class="ppcontent">2.16.840.1.113883.10.20.20.1.13</span><span class="ppsign">"</span><span class="ppsign">/</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">  <span class="ppsign">&lt;</span><span class="ppelement">title</span><span class="ppsign">&gt;</span><span class="pptext">Interpretation</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">title</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">  <span class="ppsign">&lt;</span><span class="ppelement">text</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">    <span class="ppsign">&lt;</span><span class="ppelement">list</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">      <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">        <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext">Mutations interpretation</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">        <span class="ppsign">&lt;</span><span class="ppelement">list</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">          <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">            <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext">V37I - Pathogenic</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span>          <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">          <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">            <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext">V27I - Benign</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span>          <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span>        <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">list</span><span class="ppsign">&gt;</span></span>      <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">      <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">        <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext"> Details: DNA sequencing detected two mutations in the GJB2 gene, 79G&gt;A (V27I) and 109G&gt;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,<br />                                    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<br />                                    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).<br />                                </span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span>      <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span>    <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">list</span><span class="ppsign">&gt;</span></span>  <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">text</span><span class="ppsign">&gt;</span></span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">section</span><span class="ppsign">&gt;</span></span></span></td></tr></table></td></tr><tr style="vertical-align: top;"><td colspan="4" class="tabtab"><table id="transactionTable" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr><th style="width: 30%; text-align: left;">Item</th><th style="width: 2em; text-align: left;">DT</th><th style="width: 2em; text-align: left;">Kard</th><th style="width: 2em; text-align: left;">Konf</th><th style="text-align: left;">Beschreibung</th><th style="width: 2em; text-align: left;">Label</th></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:section<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong></strong></span></td><td><span style="color: color: black;"><strong></strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr style="vertical-align: top;"><td style="background-color: white;"> </td><td colspan="5" style="background-color: #F4FFF4;" class="tabtab"><table width="100%" border="0" cellspacing="2" cellpadding="2" class="artdecor " style="background: transparent;"><tr><td style="vertical-align: top; width: 20px" rowspan="2">[[File:Target.png|14px]]</td></tr><tr xmlns="" style="background-color: #F4FFF4;"><td style="width: 25%; vertical-align: top;">genea-data&#8203;element-1.5000</td><td style="vertical-align: top;">[[File:Kyellow.png|14px]] Interpretation / Expertenmeinung </td><td style="width: 35%; vertical-align: top;">[[File:Kyellow.png|14px]] GENeALYSE Datensatz  </td></tr></table></td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:templateId<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong>II</strong></td><td><span style="color: black;"><strong>1 … 1</strong></span></td><td><span style="color: color: black;"><strong>M</strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr><td style="vertical-align: top;" class="columnName"><table cellpadding="1" class="artdecor " style="background: transparent;border: 0;"><tr><td style="vertical-align: top;">[[File:Treeblank.png|16px]]</td><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">@root<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td>uid</td><td><span><strong>1 … 1</strong></span></td><td>F</td><td style="vertical-align: top;" colspan="2">2.16.840.1.113883.10.20.20.1.13</td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:code<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong>0 … 1</strong></span></td><td><span style="color: color: black;"><strong>R</strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr style="vertical-align: top; background-color: #FAFAD2;"><td style="background-color: white;" colspan="1"> </td><td class="conf">Constraint</td><td style="background-color: #FAFAD2;" colspan="4"><span style="color: grey;">[[File:EN-US.png]] Gtr Interpretation Section <b>MAY</b> contain a code that represents interpretations of genetic testing results/ findings.</span></td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:title<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong>1 … 1</strong></span></td><td><span style="color: color: black;"><strong>R</strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr style="vertical-align: top; background-color: #FAFAD2;"><td style="background-color: white;" colspan="1"> </td><td class="conf">Constraint</td><td style="background-color: #FAFAD2;" colspan="4"><span style="color: grey;">[[File:EN-US.png]] Title <b>SHALL</b> contain text that implies "Interpretations of genetic testing results/findings"</span></td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:entry<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong>0 … *</strong></span></td><td><span style="color: color: black;"><strong>R</strong></span></td><td><span style="color: grey;">[[File:EN-US.png]] Interpretive Phenotype</span><br />Beinhaltet 2.16.840.1.113883.10.20.20.2.5 <i>Interpretive Phenotype</i> (DYNAMIC)</td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr></table></td></tr></table>
+
<table xmlns="http://www.w3.org/1999/xhtml" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor " style="background: transparent;"><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Id</th><td style="text-align: left;">2.16.840.1.113883.10.20.20.1.13 <span xmlns="" class="repobox"><div class="repo ref sspacing">ref</div><div class="non-selectable repo refvalue sspacing">gtr-</div></span></td><th style="width: 20em; text-align: left;">Gültigkeit</th><td style="text-align: left;">2013‑02‑01</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Status</th><td style="text-align: left;">[[File:Kyellow.png|14px]] Entwurf</td><th style="width: 20em; text-align: left;">Versions-Label</th><td style="text-align: left;"></td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Name</th><td style="text-align: left;">InterpretationSection</td><th style="width: 20em; text-align: left;">Bezeichnung</th><td style="text-align: left;">Interpretation Section</td></tr><tr style="vertical-align: top;"><td style="text-align: left;" colspan="4"><table id="templateDescTable" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;">Beschreibung</td></tr><tr><td><div><span style="color: grey;">[[File:EN-US.png]] 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</span></div></td></tr></table></td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Kontext</th><td style="text-align: left;" colspan="3">Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.13</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Klassifikation</th><td style="text-align: left;" colspan="3">CDA Section level template</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Offen/Geschlossen</th><td style="text-align: left;" colspan="3">Offen (auch andere als die definierten Elemente sind erlaubt)</td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Assoziiert mit</th><td style="text-align: left;" colspan="3"><table id="assocsTable" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;">Assoziiert mit 1 Konzept</td></tr><tr><td><div><table width="100%" border="0" cellspacing="1" cellpadding="3" class="artdecor " style="background: transparent;"><tr><th style="width: 20%; text-align: left;">Id</th><th style="width: 60%; text-align: left;">Name</th><th style="width: 20%; text-align: left;">Datensatz</th></tr><tr><td style="text-align: left; vertical-align: top; width: 1%;">genea-data&#8203;element-1.5000</td><td style="vertical-align: top;">[[File:Kyellow.png|14px]] Interpretation / Expertenmeinung </td><td style="text-align: left; vertical-align: top;">[[File:Kyellow.png|14px]] GENeALYSE Datensatz  </td></tr></table></div></td></tr></table></td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Benutzt</th><td style="text-align: left;" colspan="3"><table width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;">Benutzt 1 Template</td></tr><tr><td><div><table width="100%" border="0" cellspacing="1" cellpadding="3" class="artdecor " style="background: transparent;"><tr><th style="width: 20%; text-align: left;">Benutzt</th><th style="width: 1%; text-align: left;"> als </th><th style="width: 60%; text-align: left;">Name</th><th style="width: 19%; text-align: left;">Version</th></tr><tr><td style="text-align: left;">2.16.840.1.113883.10.20.20.2.5</td><td style="text-align: left;">Containment</td><td style="text-align: left;">[[File:Kyellow.png|14px]] Interpretive Phenotype</td><td style="text-align: left;">DYNAMIC</td></tr></table></div></td></tr></table></td></tr><tr style="vertical-align: top;"><th style="width: 20em; text-align: left;">Beziehung</th><td style="text-align: left;" colspan="3">Spezialisierung: Template 2.16.840.1.113883.10.12.201 <i>CDA Section </i> (2005‑09‑07) <span xmlns="" class="repobox"><div class="repo ref sspacing">ref</div><div class="non-selectable repo refvalue sspacing">ad1bbr-</div></span></td></tr><tr class="explabel " style="vertical-align: top;"><th class="" style="width: 20em; text-align: left;">Beispiel</th><td colspan="3" class="explabelblue"><table width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr class="desclabel"><td style="height: 1.5em;" class="togglertreetable"><span class="expcaption">Beispiel</span></td></tr><tr><td><span style="font-family: Courier, 'Courier New', monospace; "><span style="display: block;" class="explrendered"><span class="ppsign">&lt;</span><span class="ppelement">section</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">  <span class="ppsign">&lt;</span><span class="ppelement">templateId</span> <span class="ppattribute">root</span><span class="ppsign">="</span><span class="ppcontent">2.16.840.1.113883.10.20.20.1.13</span><span class="ppsign">"</span><span class="ppsign">/</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">  <span class="ppsign">&lt;</span><span class="ppelement">title</span><span class="ppsign">&gt;</span><span class="pptext">Interpretation</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">title</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">  <span class="ppsign">&lt;</span><span class="ppelement">text</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">    <span class="ppsign">&lt;</span><span class="ppelement">list</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">      <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">        <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext">Mutations interpretation</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">        <span class="ppsign">&lt;</span><span class="ppelement">list</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">          <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">            <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext">V37I - Pathogenic</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span>          <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">          <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">            <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext">V27I - Benign</span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span>          <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span>        <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">list</span><span class="ppsign">&gt;</span></span>      <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span><span style="display: block;" class="explrendered">      <span class="ppsign">&lt;</span><span class="ppelement">item</span><span class="ppsign">&gt;</span><br /><span style="display: block;" class="explrendered">        <span class="ppsign">&lt;</span><span class="ppelement">content</span><span class="ppsign">&gt;</span><span class="pptext"> Details: DNA sequencing detected two mutations in the GJB2 gene, 79G&gt;A (V27I) and 109G&gt;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,<br />                                    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<br />                                    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).<br />                                </span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">content</span><span class="ppsign">&gt;</span></span>      <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">item</span><span class="ppsign">&gt;</span></span>    <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">list</span><span class="ppsign">&gt;</span></span>  <span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">text</span><span class="ppsign">&gt;</span></span><span class="ppsign">&lt;/</span><span class="ppnamespace"></span><span class="ppelement">section</span><span class="ppsign">&gt;</span></span></span></td></tr></table></td></tr><tr style="vertical-align: top;"><td colspan="4" class="tabtab"><table id="transactionTable" width="100%" border="0" cellspacing="3" cellpadding="2" class="artdecor treetable" style="background: transparent;"><tr><th style="width: 30%; text-align: left;">Item</th><th style="width: 2em; text-align: left;">DT</th><th style="width: 2em; text-align: left;">Kard</th><th style="width: 2em; text-align: left;">Konf</th><th style="text-align: left;">Beschreibung</th><th style="width: 2em; text-align: left;">Label</th></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:section<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong></strong></span></td><td><span style="color: color: black;"><strong></strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr style="vertical-align: top;"><td style="background-color: white;"> </td><td colspan="5" style="background-color: #F4FFF4;" class="tabtab"><table width="100%" border="0" cellspacing="2" cellpadding="2" class="artdecor " style="background: transparent;"><tr><td style="vertical-align: top; width: 20px" rowspan="2">[[File:Target.png|14px]]</td></tr><tr xmlns="" style="background-color: #F4FFF4;"><td style="width: 25%; vertical-align: top;">genea-data&#8203;element-1.5000</td><td style="vertical-align: top;">[[File:Kyellow.png|14px]] Interpretation / Expertenmeinung </td><td style="width: 35%; vertical-align: top;">[[File:Kyellow.png|14px]] GENeALYSE Datensatz  </td></tr></table></td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:templateId<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong>II</strong></td><td><span style="color: black;"><strong>1 … 1</strong></span></td><td><span style="color: color: black;"><strong>M</strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr style="vertical-align: top;"><td style="vertical-align: top;" class="columnName"><table cellpadding="1" class="artdecor " style="background: transparent;border: 0;"><tr><td style="vertical-align: top;">[[File:Treeblank.png|16px]]</td><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">@root<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td>uid</td><td><span><strong>1 … 1</strong></span></td><td>F</td><td style="vertical-align: top;" colspan="2">2.16.840.1.113883.10.20.20.1.13</td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:code<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong>0 … 1</strong></span></td><td><span style="color: color: black;"><strong>R</strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr style="vertical-align: top; background-color: #FAFAD2;"><td style="background-color: white;" colspan="1"> </td><td class="conf">Constraint</td><td style="background-color: #FAFAD2;" colspan="4"><span style="color: grey;">[[File:EN-US.png]] Gtr Interpretation Section <b>MAY</b> contain a code that represents interpretations of genetic testing results/ findings.</span></td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:title<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong>1 … 1</strong></span></td><td><span style="color: color: black;"><strong>R</strong></span></td><td></td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr><tr style="vertical-align: top; background-color: #FAFAD2;"><td style="background-color: white;" colspan="1"> </td><td class="conf">Constraint</td><td style="background-color: #FAFAD2;" colspan="4"><span style="color: grey;">[[File:EN-US.png]] Title <b>SHALL</b> contain text that implies "Interpretations of genetic testing results/findings"</span></td></tr><tr style="vertical-align: top; background-color: #FFEAEA;"><td class="columnName"><table cellpadding="1" class="artdecor ad-diffblock-horizontal " style="background: transparent;border: none;"><tr><td style="vertical-align: top;">[[File:Treetree.png|16px]]</td><td><span xmlns="" style="font-family: Courier, 'Courier New', monospace; font-weight: bold;">hl7:entry<br xmlns="http://www.w3.org/1999/xhtml" /></span></td></tr></table></td><td><strong></strong></td><td><span style="color: black;"><strong>0 … *</strong></span></td><td><span style="color: color: black;"><strong>R</strong></span></td><td><span style="color: grey;">[[File:EN-US.png]] Interpretive Phenotype</span><br />Beinhaltet 2.16.840.1.113883.10.20.20.2.5 <i>Interpretive Phenotype</i> (DYNAMIC)</td><td style="background-color: #FFEEEE;"><span title="">(Int...ion)</span></td></tr></table></td></tr></table>
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Aktuelle Version vom 22. Juni 2022, 15:11 Uhr

Id2.16.840.1.113883.10.20.20.1.13
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameInterpretationSectionBezeichnungInterpretation Section
Beschreibung
EN-US.png 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
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.13
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 1 Konzept
IdNameDatensatz
genea-data​element-1.5000Kyellow.png Interpretation / Expertenmeinung Kyellow.png GENeALYSE Datensatz
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2.16.840.1.113883.10.20.20.2.5ContainmentKyellow.png Interpretive PhenotypeDYNAMIC
BeziehungSpezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)
ref
ad1bbr-
Beispiel
Beispiel
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    <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>
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hl7:section
(Int...ion)
 
Target.png
genea-data​element-1.5000Kyellow.png Interpretation / Expertenmeinung Kyellow.png GENeALYSE Datensatz
Treetree.pnghl7:templateId
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 ConstraintEN-US.png Gtr Interpretation Section MAY contain a code that represents interpretations of genetic testing results/ findings.
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 ConstraintEN-US.png Title SHALL contain text that implies "Interpretations of genetic testing results/findings"
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Beinhaltet 2.16.840.1.113883.10.20.20.2.5 Interpretive Phenotype (DYNAMIC)
(Int...ion)