IG:Biomarker- und Genomanalysebefund

Biomarker- und Genomanalysebefund
auf Basis der HL7 Clinical Document Architecture Release 2

Biomarker- und Genomanalysebefund

Implementierungsleitfaden

vorgelegt von:
HL7 Deutschland

Entwurf

Version:	0.10
Datum:	17. April 2019
Status:	Entwurf
Verfahren:	Standard zur Probe (STU)
Realm:	Deutschland

Copyright © 2018-2019: HL7 Deutschland

Kontributoren
	Hochschule Niederrhein	Krefeld
	HL7 Deutschland e. V.	Köln
	Heitmann Consulting and Services GmbH, Gefyra GmbH	Hürth

Dokumenteninformationen

Dokumentenhistorie

Genbefund
Biomarker- und Genomanalysebefund auf Basis der HL7 Clinical Document Architecture Release 2
Status		Typ	Version	Datum	PDF	Wiki	ART-DECOR	Abstimmung
	Entwurf	STU	0.10	17.04.2018	-

Impressum

Dieser Leitfaden ist Rahmen des Projekts GENeALYSE entstanden, im Interoperabilitätsforum und den Technischen Komitees von HL7 Deutschland e. V. vorgestellt und unterliegt dem Abstimmungsverfahren des Interoperabilitätsforums und der Technischen Komitees von HL7 Deutschland e. V. .

Dieses Material ist Teil des Leitfadens Implementierungsleitfaden. Direkt im Wiki geändert werden sollten Schreibfehler, ergänzende Hinweise. Offene Fragen, die der Diskussionen bedürfen, sollten auf der Diskussionsseite aufgenommen werden. Liste der Seiten dieses Leitfadens: hier, Liste der Seiten, in denen dieses Material verwendet (transkludiert) siehe hier .

Disclaimer

Dieses Material ist Teil des Leitfadens Implementierungsleitfaden. Direkt im Wiki geändert werden sollten Schreibfehler, ergänzende Hinweise. Offene Fragen, die der Diskussionen bedürfen, sollten auf der Diskussionsseite aufgenommen werden. Liste der Seiten dieses Leitfadens: hier, Liste der Seiten, in denen dieses Material verwendet (transkludiert) siehe hier .

Copyright-Hinweis, Nutzungshinweise

Nachnutzungs- bzw. Veröffentlichungsansprüche

Für alle veröffentlichten Dateien mit einem CDA-Bezug gilt ferner: Alle abgestimmten und veröffentlichten Spezifikationen wie Implementierungsleitfäden, Stylesheets und Beispieldateien sind frei verfügbar und unterliegen keinerlei Einschränkungen, da die Autoren auf alle Rechte, die sich aus der Urheberschaft der Dokumente ableiten lassen, verzichten.

Alle auf nationale Verhältnisse angepassten und veröffentlichten CDA-Schemas können ohne Lizenz- und Nutzungsgebühren in jeder Art von Anwendungssoftware verwendet werden.
Aus der Nutzung ergibt sich kein weiter gehender Anspruch gegenüber HL7 Deutschland e.V., zum Beispiel eine Haftung bei etwaigen Schäden, die aus dem Gebrauch der Spezifikationen bzw. der zur Verfügung gestellten Dateien entstehen.

Näheres unter http://www.hl7.de und http://www.hl7.org.

Autoren

Texte und Beiträge

• Teja-Falk Radke, Hochschule Niederrhein (Krefeld)
• Franziska van Wüllen, Hochschule Niederrhein (Krefeld)
• Simon Roschu, Hochschule Niederrhein (Krefeld)
• Elisabeth Pantazoglou, Hochschule Niederrhein (Krefeld), stellvertretende Leiterin HL7 Technisches Komitee Terminologien
• Simon Roschu, Hochschule Niederrhein (Krefeld)
• Prof. Dr. med. Sylvia Thun, Hochschule Niederrhein (Krefeld), Berliner Institut für Gesundheitsforschung (Berlin), HL7 Deutschland e.V. (Berlin), Leiterin HL7 Technisches Komitee Terminologien (Krefeld, Berlin)

CDA-Sepzifikation

• Julian Sass, Berliner Institut für Gesundheitsforschung (Berlin)
• Dr. med. Kai U. Heitmann, HL7 Deutschland e.V. (Berlin), Heitmann Consulting and Services (Hürth), Gefyra GmbH (Hürth)

Einleitung

Das Projekt GENeALYSE

Im Rahmen des Projektvorhabens GENeALYSE soll eine standardisierte und interoperable Grundlage zur beschriebenen Problematik in der Befundabbildung und -übermittlung erarbeitet werden, da die Befundung der genomischen Diagnostik bei onkologischen Erkrankungen in Deutschland derzeit keine einheitliche Befundstruktur aufweist. Ziel des Projektes ist die Bereitstellung eines Implementierungsleitfadens zur Optimierung der Zusammenarbeit zwischen Diagnostik und Therapie in Medizin und Forschung im Bereich der Genomanalytik. GENeALYSE soll unter anderem die Abstimmung zwischen diagnostischem Genomlabor und klinischer Therapieentscheidung optimieren, um Therapiesicherheit und -erfolg zu steigern sowie die gesundheitsbezogene Lebensqualität betroffener Patientinnen und Patienten zu verbessern.

Stand der Forschung

Krebserkrankungen zählen zu den häufigsten Erkrankungen der Gesellschaft. Die Ursachen von Krebs sind vielschichtig. Die Hauptsachen für die steigende Neuerkrankungsrate sind jedoch die zunehmende Lebenserwartung und der Rückgang anderer lebensbedrohlicher Erkrankungen. Daneben sind Krebserkrankungen mit einer hohen Mortalitätsrate verbunden. Etwa jeder vierte Todesfall in Deutschland war im Jahr 2012 durch Krebs bedingt.

Fortschritte in der Molekularbiologie haben in den letzten Jahren viele neue Erkenntnisse über die Entstehung von Krebs erbracht. Neben äußeren Risikofaktoren nimmt die genetische Disposition eines jeden Menschen eine wesentliche Rolle bei der Krebsentstehung ein.

Zusätzlich dazu liefert die molekulargenetische Diagnostik des Tumorgewebes genaue Informationen über mögliche gezielte Angriffspunkte einer effizienten Therapie. Die neuen Methoden der Genomsequenzierung werden unter dem Begriff „Next Generation Sequencing“ (NGS) und „Precision Medicine“ zusammengefasst. Sie besitzen im Einsatz mit medizinischen Datenbanken das Potenzial, Erkrankungswahrscheinlichkeiten vorherzusagen und Therapien zielgerichteter einzusetzen und damit die Lebensqualität sowie die Überlebensraten der betroffenen Patientinnen und Patienten zu verbessern.

Um jedoch fundierte Diagnosen erstellen zu können, bedarf es anerkannter Referenzdatenbanken, die nicht in jedem Fall lizenz- und kostenfrei zur Verfügung stehen. Neben einer gezielten Anforderung zum Nachweis der Existenz einer bestimmten Mutation im Zusammenhang einer einzelnen klinischen Fragestellung, können mittlerweile ganze (Sub-) Genomsequenzen für die Diagnostik herangezogen werden. Dies birgt das Risiko, dass die Anforderungen nicht eindeutig formuliert werden. Die Interpretation der ermittelten Genomsequenzen wird des Weiteren nach bestem Wissen der Ärztin/Naturwissenschaftlerin oder des Arztes/Naturwissenschaftlers erhoben. Hier dienen zwar oftmals Datenbanken zur Befundunterstützung, jedoch existiert auch hier das Problem, dass diese entweder kommerziell zur Verfügung gestellt werden, oder bei frei zugänglichen Plattformen keinem standardisiertem Verfahren gefolgt werden kann.

Aufgrund eines uneinheitlichen Begriffsverständnisses kann dies weitreichende Folgen für Therapieentscheidungen bei Patientinnen und Patienten haben. Vor dem Hintergrund der technologischen Entwicklungen im Bereich der NGS und der damit verbundenen umfassenderen genetischen Diagnostik (bis hin zu vollständigem Exom- und Genom-Analysen) stellt die Interpretation der identifizierten Sequenzvarianten hinsichtlich ihrer möglichen krankheitsverursachenden Effekte (Pathogenität) eine große Herausforderung dar.

Erschwerend kommt hinzu, dass die Auswerteprogramme unterschiedliche Ausgabeformate nutzen und auch in den vorhandenen Datenbanken unterschiedliche Annotationen von Mutationen hinterlegt sind. Ein schwerwiegendes Problem der Stakeholder ist, dass die Befundübermittlung nach keinem standardisierten Verfahren erfolgt. Die Übermittlung molekular-genetischer Diagnoseergebnisse am Tumormaterial erfolgt vorwiegend papiergebunden. Lediglich Textbausteine können hier zur Unterstützung des Befundes herangezogen werden. Nebst fehlendem Einsatz von syntaktischen Standards werden auch keine semantischen Bezugssysteme standardisiert eingesetzt.

Aufgrund eines uneinheitlichen Begriffsverständnisses kann dies weitreichende Folgen für Therapieentscheidungen bei Patientinnen und Patienten haben. Vor dem Hintergrund der technologischen Entwicklungen im Bereich der NGS und der damit verbundenen umfassenderen genetischen Diagnostik (bis hin zu vollständigem Exom- und Genom-Analysen) stellt die Interpretation der identifizierten Sequenzvarianten hinsichtlich ihrer möglichen krankheitsverursachenden Effekte (Pathogenität) eine große Herausforderung dar.

Eine aktuelle, strukturierte und standardisierte Datenabfrage des vorhandenen Wissens für eine funktionelle Klassifizierung von DNA-Sequenzvarianten (neutrale Normvariante/Polymorphismus, Variante mit unklarer klinischer Bedeutung [VUS] oder pathogene Mutation) bildet die Grundlage für evidenzbasierte klinische Handlungsoptionen und Therapieentscheidungen. Insbesondere erfordert die molekulargenetische Diagnostik zur Feststellung einer genetischen Prädisposition für häufige Krebserkrankungen die evidenzbasierte Interpretation der Analyseergebnisse, die standardisierte Befunderstellung für die behandelnden Ärzte und strukturierte Kommunikation relevanter Befunde mit den betroffenen Patienten, um eine aufgrund fehlender Interpretationskompetenz der betreuenden Ärzte therapeutische oder präventive Fehlentscheidungen, bis hin zu nicht-indizierten prophylaktischen Operationen zu vermeiden.

Die hohe fachliche Komplexität des Themas und der Umfang der erhobenen Informationen innerhalb der Genomanalytik stellen auch eine Herausforderung für die Standardisierung dar.

Projektziele

Das Ziel des Projektvorhabens ist die Standardisierung der Ergebnisübermittlung von Genomanalysen mit Hilfe des hier vorliegenden Implementierungsleitfadens. Dies erforderte eine genaue Analyse der derzeitigen IST-Situation bei den beteiligten Akteurinnen und Akteuren unter Beachtung der gesetzlich regulativen Rahmenbedingungen, vor allem im Bereich Datenschutz und Ethik. Daraus abgeleitet wurde eine SOLL-Konzeption erstellt, welche die Basis für Standardisierungsmaßnahmen bildete. Die semantische Annotation bildet dabei das zentrale Element der Arbeiten, da sie wesentlichen Einfluss auf zukünftige Nutzbarkeit für die Anwenderinnen und Anwender nimmt. Eine einheitliche Definition der Fachterminologien in Kombination mit geeigneten syntaktischen Standards und Schnittstellen gewährleistet, die derzeit unstrukturierten Daten vielseitig für Anwenderinnen und Anwender nutzbar zu machen.

Eine Standardisierung der Befundsemantik und Befundstruktur soll einen wesentlichen Beitrag zu folgenden Punkten leisten:

1. Die Kommunikation zwischen den beteiligten Akteurinnen und Akteuren wird wesentlich verbessert.
2. Die wissenschaftlich-fundierte Befundung und Ergebniskommunikation wird optimiert.
3. Die Bewertung von Prognosen für einen Therapieerfolg wird unterstützt.
4. Die Verbesserung der Forschungs- und Wissensbasis im Hinblick auf Optimierung der medikamentösen Therapie.
5. Die Versorgungsforschung im Bereich der personalisierten Krebsbehandlung wird vorangetrieben.

Hierarchische Ansicht der Komponenten zum Biomarker- und Genomanalysebefunddokument

Die folgende hierarchische Zusammenstellung gibt eine Übersicht über die einzelnen Komponenten des Biomarker- und Genomanalysebefunds. Des Weiteren wird verwiesen auf die Ausführungen Abschnitt "Arztbriefstruktur" im Arztbrief Plus zu Kardinalität, Konformität, NullFlavor und den besonderen Hinweise zur Verwendung von Identifikationen (IDs). Weitere Informationen werden im Folgenden gegeben.

Besonderheiten bei der CDA-Spezifikation "Biomarker- und Genomanalysebefund"

Erläuterungen zu Kardinalität, Konformität, NullFlavor

Es wird auf die Erläuterungen andernorts zu den Themen

• Kardinalität, Konformität [2]
• NullFlavor [3]

hingewiesen.

Besondere Hinweise zur Verwendung von Identifikationen (IDs)

In diversen Templates ist die Angabe von identifizierenden Merkmalen möglich. Dabei sind beispielsweise gemeint

• Patienten, identifiziert über die Krankenversichertennummer (KVNR),
• Gesundheitsdienstleister, typischerweise identifiziert über die Lebenslange Arztnummer (LANR),
• Betriebsstätten, typischerweise identifiziert über die Betriebsstättennummer (BSNR),
• Institutionskennzeichen (IKNR) z. B. für Abrechnungen und Qualitätssicherungsmaßnahmen im Bereich der deutschen Sozialversicherung.

Hinweise zu den Identifikationen und Best Practive finden sich im Wiki des Interoperabilitätsforums, .

Krankenversichertennummer (KVNR)

Die Krankenversichertennummer (KVNR) besteht im unveränderliche Teil aus insgesamt 10 Stellen, beginnend mit einem alphanumerischen Zeichen.

Die Krankenversichertennummer für einen Patienten wird im id-Element der Rolle (... etc.) in der @extension angegeben. Das Identifikationssystem hat die registrierte OID 1.2.276.0.76.4.8 (Versichertennummer, unveränderbarer Teil der Krankenversichertennummer zur Identifikation des Versicherten, gemaess §290 SGB V; für PKV Versicherte: gleich Versicherungsnummer) und wird im @root-Attribut gekennzeichnet.

<recordTarget typeCode="RCT" contextControlCode="OP">
  <patientRole classCode="PAT">
    <id root="1.2.276.0.76.4.8" extension="G970865268"/>
    ...
  </patientRole>
</recordTarget>

Lebenslange Arztnummer (LANR)

Die LANR für den entsprechenden Arzt wird im id-Element seiner Rolle (assignedEntity, assignedAuthor etc.) in der @extension angegeben. Das Identifikationssystem LANR hat die registrierte OID 1.2.276.0.76.4.16 und wird im @root-Attribut gekennzeichnet.

<assignedAuthor>
     <id root="1.2.276.0.76.4.16" extension="381259301"/>
    ...
</assignedAuthor >

Betriebsstättennummer (BSNR)

Die BSNR für die entsprechende Betriebsstätte wird im id-Element der Rolle (... etc.) in der @extension angegeben. Das Identifikationssystem BSNR hat die registrierte OID 1.2.276.0.76.4.17 und wird im @root-Attribut gekennzeichnet.

<representedOrganization>
      <id root="1.2.276.0.76.4.17" extension="981069211"/>
      <name>Beispiel Krankenhaus</name>
</representedOrganization>

Institutionskennzeichen (IKNR)

Für die Angabe eines Institutionskennzeichens enthält im id-Element das @extension Attribut das Institutionskennzeichen (IKNR) und @root = 1.2.276.0.76.4.5, die OID für IK-Nummern in Deutschland

<scopingOrganization>
      <id root="1.2.276.0.76.4.5" extension="302205023"/>
      <name>Beispiel Krankenhaus</name>
</scopingOrganization >

Hinweise zu den Darstellungen der Templates

Im folgenden Abschnitt dieser Spezifikation werden alle Templates aufgeführt. Die Darstellung der Definitionen erfolgt in Tabellenform. Weitere Hinweise, die möglicherweise für das Verständnis der Template-Definitionen nötig sein könnten, finden sich in englischer Sprache auf den Erläuterungsseiten von ART-DECOR.

CDA Document Level Templates

CDA Dokument für den Biomarker- und Genomanalysebefund

Document  Genetischer Befundbericht (2.16.840.1.113883.2.6.60.13.10.1) Header  CDA recordTarget (1.2.276.0.76.10.2001) *  Personenname (1.2.276.0.76.10.90030) Header  CDA author Person (1.2.276.0.76.10.2007) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA dataEnterer (1.2.276.0.76.10.2017) Header  CDA Assigned Entity Elements (1.2.276.0.76.10.90012) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) *  CDA Informant (1.2.276.0.76.10.2018) Header  CDA Assigned Entity Elements (1.2.276.0.76.10.90012) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Entry  RelatedEntity (Body) (1.2.276.0.76.10.90020) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA custodian (1.2.276.0.76.10.2004) Header  CDA informationRecipient (1.2.276.0.76.10.2005) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA legalAuthenticator (1.2.276.0.76.10.2020) Header  CDA Assigned Entity Elements (1.2.276.0.76.10.90012) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA authenticator (1.2.276.0.76.10.2019) Header  CDA Assigned Entity Elements (1.2.276.0.76.10.90012) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Einweiser (1.2.276.0.76.10.2023) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Hausarzt (1.2.276.0.76.10.2012) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Notfallkontakt (1.2.276.0.76.10.2011) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Angehörige (1.2.276.0.76.10.2021) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Kostentraeger (1.2.276.0.76.10.2022) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Ansprechpartner (1.2.276.0.76.10.2025) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Betreuungsorganisation (1.2.276.0.76.10.2026) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA participant Weitere Beteiligte (1.2.276.0.76.10.2024) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  CDA encompassingEncounter Patientenkontakt (1.2.276.0.76.10.2027) Header  CDA Assigned Entity Elements (1.2.276.0.76.10.90012) Header  CDA Person Elements (1.2.276.0.76.10.90010) Header  CDA Organization Elements (1.2.276.0.76.10.90011) Header  Encounter Location (1.2.276.0.76.10.90021) Header  Auftragsidentifikation (1.2.276.0.76.10.2015) Header  Ordering Provider (1.3.6.1.4.1.19376.1.3.3.1.6) Section  Zusammenfassung Section (2.16.840.1.113883.2.6.60.13.10.13) Section  Indikation Section (2.16.840.1.113883.2.6.60.13.10.9) Entry  Indication Observation (2.16.840.1.113883.10.20.20.3.3) Entry  Genetic Disease Assessed Indication Observation (2.16.840.1.113883.10.20.20.3.3.1) Entry  Medikation Beurteilung Indikation (2.16.840.1.113883.2.6.60.13.10.7) Section  Zusammenfassung Durchgeführte Untersuchungen Section (2.16.840.1.113883.2.6.60.13.10.8) Entry  Test Performed Observation (2.16.840.1.113883.10.20.20.3.4) Section  Zusammenfassende Interpretation Section (2.16.840.1.113883.2.6.60.13.10.10) Entry  Clinical Genomic Statement Overall Interpretation (2.16.840.1.113883.10.20.20.2.4) Entry  Genomic Observations Organizer (2.16.840.1.113883.10.20.20.5.1) Entry  Genomic Observation Reference (2.16.840.1.113883.10.20.20.6) Section  Empfehlungen Section (2.16.840.1.113883.2.6.60.13.10.14) Section  Untersuchungsmaterial Section (2.16.840.1.113883.2.6.60.13.10.17) Entry  Genomic Source Class (2.16.840.1.113883.10.20.20.3.2) Section  Testdetails Section (2.16.840.1.113883.2.6.60.13.10.18) Entry  Clinical Genomic Statement (2.16.840.1.113883.10.20.20.2) Entry  Indication Observation (2.16.840.1.113883.10.20.20.3.3) Entry  Interpretive Phenotype (2.16.840.1.113883.10.20.20.2.5) Entry  Genomic Source Class (2.16.840.1.113883.10.20.20.3.2) Entry  Genomic Associated Observation (2.16.840.1.113883.10.20.20.4) Section  Indications Section (2.16.840.1.113883.10.20.20.1.11) Entry  Indication Observation (2.16.840.1.113883.10.20.20.3.3) Entry  Genetic Disease Assessed Indication Observation (2.16.840.1.113883.10.20.20.3.3.1) Entry  Medication Assessed Indication Observation (2.16.840.1.113883.10.20.20.3.3.2) Section  Test Performed Section (2.16.840.1.113883.10.20.20.1.10) Entry  Test Performed Observation (2.16.840.1.113883.10.20.20.3.4) Section  Findings Section (2.16.840.1.113883.10.20.20.1.12) Section  Interpretation Section (2.16.840.1.113883.10.20.20.1.13) Entry  Interpretive Phenotype (2.16.840.1.113883.10.20.20.2.5) Section  Test Information Section (2.16.840.1.113883.10.20.20.1.9) Section  Background Section (2.16.840.1.113883.10.20.20.1.9.1) Section  Methodology Section (2.16.840.1.113883.10.20.20.1.9.2) Section  References Section (2.16.840.1.113883.10.20.20.1.9.3) Section  Specimen Section (2.16.840.1.113883.10.20.20.1.7) Entry  Genomic Source Class (2.16.840.1.113883.10.20.20.3.2) Section  Testinformationen Section (2.16.840.1.113883.2.6.60.13.10.19) Section  Background Section (2.16.840.1.113883.10.20.20.1.9.1) Section  Methodology Section (2.16.840.1.113883.10.20.20.1.9.2) Section  References Section (2.16.840.1.113883.10.20.20.1.9.3)

Id	2.16.840.1.113883.2.6.60.13.10.1	Gültigkeit	2018‑08‑09 17:52:59
Status	Entwurf	Versions-Label
Name	GenetischerBefundbericht	Bezeichnung	Genetischer Befundbericht
Beschreibung
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.1
Klassifikation	CDA Document 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-1.6120  Zeitstempel  GENeALYSE Datensatz
Benutzt	Benutzt 22 Templates Benutzt als Name Version 1.2.276.0.76.10.2001 Inklusion CDA recordTarget DYNAMIC 1.2.276.0.76.10.2007 Inklusion CDA author Person DYNAMIC 1.2.276.0.76.10.2017 Inklusion CDA dataEnterer DYNAMIC 1.2.276.0.76.10.2018 Inklusion CDA Informant DYNAMIC 1.2.276.0.76.10.2004 Inklusion CDA custodian DYNAMIC 1.2.276.0.76.10.2005 Inklusion CDA informationRecipient DYNAMIC 1.2.276.0.76.10.2020 Inklusion CDA legalAuthenticator DYNAMIC 1.2.276.0.76.10.2019 Inklusion CDA authenticator DYNAMIC 1.2.276.0.76.10.2023 Inklusion CDA participant Einweiser DYNAMIC 1.2.276.0.76.10.2012 Inklusion CDA participant Hausarzt DYNAMIC 1.2.276.0.76.10.2011 Inklusion CDA participant Notfallkontakt DYNAMIC 1.2.276.0.76.10.2021 Inklusion CDA participant Angehörige DYNAMIC 1.2.276.0.76.10.2022 Inklusion CDA participant Kostentraeger DYNAMIC 1.2.276.0.76.10.2025 Inklusion CDA participant Ansprechpartner DYNAMIC 1.2.276.0.76.10.2026 Inklusion CDA participant Betreuungsorganisation DYNAMIC 1.2.276.0.76.10.2024 Inklusion CDA participant Weitere Beteiligte DYNAMIC 1.2.276.0.76.10.2027 Inklusion CDA encompassingEncounter Patientenkontakt (1.1) DYNAMIC 1.2.276.0.76.10.2015 Inklusion Auftragsidentifikation DYNAMIC 1.3.6.1.4.1.19376.1.3.3.1.6 Inklusion Ordering Provider (2017) DYNAMIC 2.16.840.1.113883.2.6.60.13.10.13 Containment Zusammenfassung Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.18 Containment Testdetails Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.19 Containment Testinformationen Section DYNAMIC
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20 Genetic Testing Report (2013‑02‑01) ref gtr- Spezialisierung: Template 2.16.840.1.113883.10.12.2 CDA ClinicalDocument (with StructuredBody) (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <ClinicalDocument xsi:schemaLocation="urn:hl7-org:v3 CDA.xsd">   <!-- ******************************************************** CDA Header ******************************************************** -->   <hl7:typeId root="2.16.840.1.113883.1.3" extension="POCD_HD000040"/>  <hl7:templateId root="2.16.840.1.113883.10.20.20"/>  <hl7:id extension="c266" root="2.16.840.1.113883.18.12.7.30.9.1"/>  <hl7:code code="51969-4" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic analysis summary report"/>  <hl7:title>Hearing Loss: Connexin 26 and 30 Full Gene Sequencing Panel Test Report</hl7:title>  <hl7:effectiveTime value="20100809"/>  <hl7:confidentialityCode code="R" codeSystem="2.16.840.1.113883.5.25"/>  <hl7:languageCode code="en-US"/>  <hl7:setId extension="BB35" root="2.16.840.1.113883.19.7"/>  <hl7:versionNumber value="1"/>  <hl7:recordTarget>     <hl7:patientRole>       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2" extension="123456789"/>      <hl7:patient>         <hl7:name use="L">           <hl7:given>John</hl7:given>          <hl7:given>Q.</hl7:given>          <hl7:family>Doe</hl7:family>        </hl7:name>        <hl7:administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1" codeSystemName="AdministrativeGender" displayName="Male"/>        <hl7:birthTime value="19470505"/>      </hl7:patient>      <hl7:providerOrganization>         <hl7:id root="2.16.840.1.113883.19.3.2409"/>        <hl7:name>The New Hospital</hl7:name>      </hl7:providerOrganization>    </hl7:patientRole>  </hl7:recordTarget>  <hl7:author>     <!-- AUT = the report writer -->     <hl7:functionCode code="AUT" displayName="author (originator)"/>    <hl7:time/>    <hl7:assignedAuthor>       <!-- id identifies the person in that role within the organization -->       <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="author123"/>      <!-- the code GEN will be proposed to be added to the HL7 RoleCode vocabulry representing a Geneticist-->       <hl7:code code="GEN" displayName="Geneticist" nullFlavor="OTH"/>      <hl7:assignedPerson>         <hl7:name>Jean Geome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>         <hl7:id root="2.16.840.1.113883.19.3.2409" extension="2DD1005307"/>      </hl7:representedOrganization>    </hl7:assignedAuthor>  </hl7:author>  <!-- custodian is the legal record keeper for this document-->   <hl7:custodian>     <hl7:assignedCustodian>       <hl7:representedCustodianOrganization>         <hl7:id root="2.16.840.1.113883.19.3.2409"/>      </hl7:representedCustodianOrganization>    </hl7:assignedCustodian>  </hl7:custodian>  <!-- even if the legal authenticator is the same person as the author, it needs the construct below which also has the signature code element-->   <hl7:legalAuthenticator>     <hl7:time value="20060212"/>    <hl7:signatureCode code="S"/>    <hl7:assignedEntity>       <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="ABCD191928-1" displayable="true"/>      <hl7:code code="AUT" displayName="Author"/>      <hl7:assignedPerson>         <hl7:name>Jean Legal Genome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>         <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="2DD1005307" displayable="true"/>        <hl7:name>The New Genetic Testing Laboratory of the New Hospital</hl7:name>      </hl7:representedOrganization>    </hl7:assignedEntity>  </hl7:legalAuthenticator>  <!-- the "documentationOf" element is a pointer to the 'genetic testing service' which this document summarizes; The id attribute can hold for example the genetic lab accesssion number -->   <cda:documentationOf>     <hl7:serviceEvent>       <hl7:id root="2.16.840.1.113883.19.3.2409" extension="ABCD-1234"/>      <hl7:performer typeCode="PRF">         <hl7:assignedEntity>           <hl7:id root="2.16.840.1.113883.19.3.2409.123"/>          <hl7:representedOrganization>             <hl7:name>The New Genetic Testing Laboratory the New Hospital</hl7:name>          </hl7:representedOrganization>        </hl7:assignedEntity>      </hl7:performer>    </hl7:serviceEvent>  </cda:documentationOf>  <!-- ******************************************************** CDA Body ******************************************************** -->   <hl7:component>     <hl7:structuredBody>       <!-- ******************************************************************** Summary Section ******************************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1"/>          <hl7:title>Summary</hl7:title>          <!-- ******************************************************************** Indications Section ******************************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.11"/>              <hl7:title>Indications</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content ID="a2">Indication: Profound sensorineural hearing loss</cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="COND" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>                  <hl7:value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">                     <hl7:originalText>                       <hl7:reference value="#a2"/>                    </hl7:originalText>                  </hl7:value>                  <!-- the following reference could point to the full description of the disease if residing in the patient records -->                   <hl7:reference typeCode="XCRPT">                     <hl7:externalObservation>                       <hl7:id root="2.16.840.1.113883.19.1.2765"/>                    </hl7:externalObservation>                  </hl7:reference>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!-- ******************************************************************** Summary of Tests Performed ******************************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.6"/>              <hl7:title>Summary of Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content ID="a1"> GJB2 Full Gene Test </cda:content>                  </cda:item>                  <cda:item>                     <cda:content ID="a5"> GJB6-D13S1830 deletion </cda:content>                  </cda:item>                  <cda:item>                     <cda:content ID="a3"> Mitochondrial Hearing Loss Mutation Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ************************************** Overall Interpretation section ************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.1"/>              <hl7:title>Overall Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content styleCode="Bold">Inconclusive.</cda:content>                  </cda:item>                  <cda:item>                     <cda:content> DNA sequencing detected two changes in the GJB2 gene, 79G>A (V27I) and 109G>A (V37I). The V27I change 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). </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-D13S1830 region of chromosome 13 was performed and did not detect the deletion. This test does not assess the DNA sequence of the GJB6 gene or detect other mutations that could affect the expression of the gene. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Mitochondrial Hearing Loss mutations: Targeted bidirectional sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the presence of these mutations. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.4"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>                  <hl7:code code="55232-3" codeSystemName="LOINC" displayName="Genetic analysis summary panel"/>                  <hl7:statusCode code="completed"/>                  <hl7:entryRelationship typeCode="SUBJ">                     <!-- Genomic observation battery (references only) -->                     <hl7:organizer classCode="BATTERY" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.5.1"/>                      <hl7:statusCode code="completed"/>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                    </hl7:organizer>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="RSON">                     <hl7:observation classCode="COND" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="SPRT">                     <hl7:observation classCode="OBS" moodCode="DEF">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.5"/>                      <hl7:code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>                      <hl7:statusCode code="completed"/>                      <hl7:effectiveTime value="200512011500"/>                      <hl7:value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>                      <!-- this is an example of how it is possible to override the header performer with a different performer, in this case of the analysis that led to the overall interpretation-->                       <hl7:performer typeCode="PRF">                         <hl7:assignedEntity>                           <hl7:id root="2.16.840.1.113883.19.3.2409.345"/>                          <hl7:representedOrganization>                             <hl7:name>The New Genetic Testing Analysis Service</hl7:name>                          </hl7:representedOrganization>                        </hl7:assignedEntity>                      </hl7:performer>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!-- ******************************************************** Recommendations section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.5"/>              <hl7:title>Recommendations</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Although some cases may represent a coincidental carrier state, all of the studies have concluded that there are likely to be other genetic mutations that have not yet been identified. Genetic counseling is recommended for this patient and his/her family members. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ******************************************************************** Specimen Section ******************************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.7"/>              <hl7:title>Specimen and Genomic Source Class</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>Peripheral Blood</cda:item>                  <cda:item>Genomic source class: Germline</cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.2"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>                  <hl7:value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>                  <hl7:specimen>                     <hl7:templateId root="2.16.840.1.113883.10.20.20.3.1"/>                    <hl7:specimenRole>                       <hl7:specimenPlayingEntity>                         <hl7:code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>                      </hl7:specimenPlayingEntity>                    </hl7:specimenRole>                  </hl7:specimen>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************************** Genetic Variations Section: Connexin 26 Full Gene Test ******************************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.8"/>          <hl7:title>Genetic Variations</hl7:title>          <!-- Structured representation of: Homozygous 109G>A (V37I), Exon 2, GJB2, Pathogenic -->           <hl7:entry>             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName="DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.5"/>                  <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HGNC"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.8"/>                  <hl7:code code="48013-7" codeSystemName="LOINC" displayName="Genomic Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NC_000013.10" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>                  <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.7"/>                  <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs72474224" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2"/>                  <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2.1"/>                  <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1"/>                  <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val37Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1.1"/>                  <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.3"/>                  <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.4"/>                  <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6705-3" codeSystemName="LOINC" displayName="Homozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation testing-->               <hl7:entryRelationship typeCode="RSON">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation (should consider if MFST=manifistation as the code here) -->               <hl7:entryRelationship typeCode="SPRT">                 <hl7:observation classCode="OBS" moodCode="DEF">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6668-3" codeSystemName="LOINC" displayName="Pathogenic"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <!-- Structured representation of: Heterozygous 79G>A (V27I), Exon 2, GJB2, Benign-->           <hl7:entry>             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName=" DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HUGO"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs2274084" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="79G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val27Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6706-1" codeSystemName="LOINC" displayName="Heterozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation testing-->               <hl7:entryRelationship typeCode="RSON">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation-->               <hl7:entryRelationship typeCode="SPRT">                 <hl7:observation classCode="OBS" moodCode="DEF">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6675-8" codeSystemName="LOINC" displayName="Benign"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> GJB2 Full Gene Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="CX26FULL" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 26 Full Gene Test">                     <!-- the original text allows us to point back to the narrative (any specific piece of it using the nesting content element as an anchor) -->                     <hl7:originalText>                       <hl7:reference value="#a1"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">                     <hl7:observation classCode="COND" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the test-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2 </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2 </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content>Mutations interpretation</cda:content>                    <cda:list>                       <cda:item>                         <cda:content>V37I - Pathogenic</cda:content>                      </cda:item>                      <cda:item>                         <cda:content>V27I - Benign</cda:content>                      </cda:item>                    </cda:list>                  </cda:item>                  <cda:item>                     <cda: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). </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************************** Genetic Variations Section: Connexin 30 Deletion Test ******************************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>             <!-- The core genomic observation (the 'finding')-->             <hl7:observation classCode="COND" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>              <hl7:code code="51959-5" displayName="DNA region of interest"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="GJB6-D13S1830"/>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="COMP">                 <!-- negationInd is set to "true" to signify that the deletion of the DNA region at stake was not found-->                 <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">                   <hl7:code code="48019-4" displayName="DNA Sequence Variation type"/>                  <hl7:value xsi:type="CD" code="LA6692-3" displayName="Deletion"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="RSON">                 <hl7:observation classCode="COND" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the indication for the test-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> GJB6-D13S1830 Deletion Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 30 Deletion Test">                     <!-- the original text allows us to point back to the narrative (any specific piece of it using the nesting content element as an anchor) -->                     <hl7:originalText>                       <hl7:reference value="#a5"/>                    </hl7:originalText>                  </hl7:value>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Negative </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6- D13S1830 region of chromosome 13 was performed and did not detect the deletion. This test does not assess the DNA sequence of the GJB6 gene or detect other mutations that could affect the expression of the gene. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************************************* Genetic Variations Section: Mitochondrial Hearing Loss Genes Test ******************************************************************************* -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>             <!-- The core genomic observation (the 'finding')-->             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>              <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTTS1"/>              <hl7:entryRelationship typeCode="COMP">                 <!-- no mutations were found-->                 <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">                   <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">                     <hl7:observation classCode="OBS" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:entry>             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTRNR1"/>              <hl7:entryRelationship typeCode="COMP">                 <!-- no mutations were found-->                 <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">                   <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">                     <hl7:observation classCode="OBS" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Mitochondrial Hearing Loss Genes Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="MTTS1 and MTRNR1 Genes Test">                     <!-- the original text allows us to point back to the narrative (any specific piece of it using the nesting content element as an anchor) -->                     <hl7:originalText>                       <hl7:reference value="#a3"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">                     <hl7:observation classCode="COND" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the test-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Negative </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> DNA sequencing did not detect the presence of any mutations in the MTTS1 and MTRNR1 genes. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************** Test Information section ******************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9"/>          <hl7:title>Test Information</hl7:title>          <!-- ******************************************************** Background section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>              <hl7:title>Background</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Mutations in the GJB2 (connexin 26) gene are the most common cause of non syndromic hearing loss and are most often seen in a person with hearing loss that was found in early childhood without any other medical problems. The severity of the hearing loss can range from mild to profound. The inheritance pattern is usually autosomal recessive, requiring two mutations, one in each copy of the gene, to cause hearing loss. The GJB6- D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin 30 protein (Cx30). This deletion, when present in two copies or when combined with a single connexin 26 mutation, causes hearing loss. Although the frequency of mitochondrial hearing loss is unknown, studies suggest that mitochondrial mutations play an important role in inherited and acquired hearing impairment. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ******************************************************** Methodology section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>              <hl7:title>Methodology</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are amplified using flanking primer sets. PCR products are sequenced using an ABI fluorescence automatic DNA sequencer. This test does not detect large deletions or mutations in non-coding regions that could affect gene expression. This assay is greater than 99.9% accurate in detecting mutations in the sequences analyzed. Polymerase chain reaction (PCR) analysis is performed to detect the presence or absence of a deletion spanning the GJB6-D13S1830 region of chromosome 13. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ******************************************************** References section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>              <hl7:title>References</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness Homepage. http://www.crg.es/deafness. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73: 1452-1458. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002;4(4): 258-74. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet. 2001 Aug;38(8):530-3. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1 (Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). http://www.genetests.org. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F, Mondain M, Hoefsloot, LH Cremers CWRJ, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>    </hl7:structuredBody>  </hl7:component></ClinicalDocument>
Beispiel	Beispiel <ClinicalDocument xsi:schemaLocation="urn:hl7-org:v3 CDA.xsd">   <!-- ******************************************************** CDA Header ******************************************************** -->   <hl7:typeId root="2.16.840.1.113883.1.3" extension="POCD_HD000040"/>  <hl7:templateId root="2.16.840.1.113883.10.20.20"/>  <hl7:id extension="c266" root="2.16.840.1.113883.18.12.7.30.9.1"/>  <hl7:code code="51969-4" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic analysis summary report"/>  <hl7:title>Hearing Loss: Connexin 26 and 30 Full Gene Sequencing Panel Test Report</hl7:title>  <hl7:effectiveTime value="20100809"/>  <hl7:confidentialityCode code="R" codeSystem="2.16.840.1.113883.5.25"/>  <hl7:languageCode code="en-US"/>  <hl7:setId extension="BB35" root="2.16.840.1.113883.19.7"/>  <hl7:versionNumber value="1"/>  <recordTarget typeCode="RCT" contextControlCode="OP">     <patientRole classCode="PAT">       <id root="2.16.840.1.113883.3.37.6.2.23.3" extension="12345"/>      <addr use="HP">         <streetName>Musterstraße</streetName>        <houseNumber>15</houseNumber>        <postalCode>50825</postalCode>        <city>Köln</city>      </addr>      <telecom use="HP" value="tel:+49(221)7812220"/>      <patient classCode="PSN" determinerCode="INSTANCE">         <name>           <given>Marie</given>          <family>Müller</family>        </name>        <administrativeGenderCode code="F" codeSystem="2.16.840.1.113883.5.1"/>        <birthTime value="19700924"/>        <birthplace>           <place>             <addr>               <city>Köln</city>            </addr>          </place>        </birthplace>      </patient>    </patientRole>  </recordTarget>  <hl7:author>     <!-- AUT = the report writer -->     <hl7:functionCode code="AUT" displayName="author (originator)"/>    <hl7:time/>    <hl7:assignedAuthor>       <!-- id identifies the person in that role within the organization -->       <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="author123"/>      <!-- the code GEN will be proposed to be added to the HL7 RoleCode vocabulry representing a Geneticist-->       <hl7:code code="GEN" displayName="Geneticist" nullFlavor="OTH"/>      <hl7:assignedPerson>         <hl7:name>Jean Geome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>         <hl7:id root="2.16.840.1.113883.19.3.2409" extension="2DD1005307"/>      </hl7:representedOrganization>    </hl7:assignedAuthor>  </hl7:author>  <!-- custodian is the legal record keeper for this document-->   <hl7:custodian>     <hl7:assignedCustodian>       <hl7:representedCustodianOrganization>         <hl7:id root="2.16.840.1.113883.19.3.2409"/>      </hl7:representedCustodianOrganization>    </hl7:assignedCustodian>  </hl7:custodian>  <!-- even if the legal authenticator is the same person as the author, it needs the construct below which also has the signature code element-->   <hl7:legalAuthenticator>     <hl7:time value="20060212"/>    <hl7:signatureCode code="S"/>    <hl7:assignedEntity>       <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="ABCD191928-1" displayable="true"/>      <hl7:code code="AUT" displayName="Author"/>      <hl7:assignedPerson>         <hl7:name>Jean Legal Genome</hl7:name>      </hl7:assignedPerson>      <hl7:representedOrganization>         <hl7:id root="2.16.840.1.113883.19.3.2409.123" extension="2DD1005307" displayable="true"/>        <hl7:name>The New Genetic Testing Laboratory of the New Hospital</hl7:name>      </hl7:representedOrganization>    </hl7:assignedEntity>  </hl7:legalAuthenticator>  <!-- the "documentationOf" element is a pointer to the 'genetic testing service' which this document summarizes; The id attribute can hold for example the genetic lab accesssion number -->   <cda:documentationOf>     <hl7:serviceEvent>       <hl7:id root="2.16.840.1.113883.19.3.2409" extension="ABCD-1234"/>      <hl7:performer typeCode="PRF">         <hl7:assignedEntity>           <hl7:id root="2.16.840.1.113883.19.3.2409.123"/>          <hl7:representedOrganization>             <hl7:name>The New Genetic Testing Laboratory the New Hospital</hl7:name>          </hl7:representedOrganization>        </hl7:assignedEntity>      </hl7:performer>    </hl7:serviceEvent>  </cda:documentationOf>  <!-- ******************************************************** CDA Body ******************************************************** -->   <hl7:component>     <hl7:structuredBody>       <!-- ******************************************************************** Summary Section ******************************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1"/>          <hl7:title>Summary</hl7:title>          <!-- ******************************************************************** Indications Section ******************************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.11"/>              <hl7:title>Indications</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content ID="a2">Indication: Profound sensorineural hearing loss</cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="COND" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>                  <hl7:value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">                     <hl7:originalText>                       <hl7:reference value="#a2"/>                    </hl7:originalText>                  </hl7:value>                  <!-- the following reference could point to the full description of the disease if residing in the patient records -->                   <hl7:reference typeCode="XCRPT">                     <hl7:externalObservation>                       <hl7:id root="2.16.840.1.113883.19.1.2765"/>                    </hl7:externalObservation>                  </hl7:reference>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!-- ******************************************************************** Summary of Tests Performed ******************************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.6"/>              <hl7:title>Summary of Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content ID="a1"> GJB2 Full Gene Test </cda:content>                  </cda:item>                  <cda:item>                     <cda:content ID="a5"> GJB6-D13S1830 deletion </cda:content>                  </cda:item>                  <cda:item>                     <cda:content ID="a3"> Mitochondrial Hearing Loss Mutation Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ************************************** Overall Interpretation section ************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.1"/>              <hl7:title>Overall Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content styleCode="Bold">Inconclusive.</cda:content>                  </cda:item>                  <cda:item>                     <cda:content> DNA sequencing detected two changes in the GJB2 gene, 79G>A (V27I) and 109G>A (V37I). The V27I change 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). </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-D13S1830 region of chromosome 13 was performed and did not detect the deletion. This test does not assess the DNA sequence of the GJB6 gene or detect other mutations that could affect the expression of the gene. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Mitochondrial Hearing Loss mutations: Targeted bidirectional sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the presence of these mutations. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.4"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>                  <hl7:code code="55232-3" codeSystemName="LOINC" displayName="Genetic analysis summary panel"/>                  <hl7:statusCode code="completed"/>                  <hl7:entryRelationship typeCode="SUBJ">                     <!-- Genomic observation battery (references only) -->                     <hl7:organizer classCode="BATTERY" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.5.1"/>                      <hl7:statusCode code="completed"/>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                      <hl7:component>                         <!-- reference to the actual finding-->                         <hl7:observation classCode="OBS" moodCode="EVN">                           <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                          <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>                          <hl7:code/>                        </hl7:observation>                      </hl7:component>                    </hl7:organizer>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="RSON">                     <hl7:observation classCode="COND" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                  <hl7:entryRelationship typeCode="SPRT">                     <hl7:observation classCode="OBS" moodCode="DEF">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.5"/>                      <hl7:code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>                      <hl7:statusCode code="completed"/>                      <hl7:effectiveTime value="200512011500"/>                      <hl7:value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>                      <!-- this is an example of how it is possible to override the header performer with a different performer, in this case of the analysis that led to the overall interpretation-->                       <hl7:performer typeCode="PRF">                         <hl7:assignedEntity>                           <hl7:id root="2.16.840.1.113883.19.3.2409.345"/>                          <hl7:representedOrganization>                             <hl7:name>The New Genetic Testing Analysis Service</hl7:name>                          </hl7:representedOrganization>                        </hl7:assignedEntity>                      </hl7:performer>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <!-- ******************************************************** Recommendations section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.1.5"/>              <hl7:title>Recommendations</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Although some cases may represent a coincidental carrier state, all of the studies have concluded that there are likely to be other genetic mutations that have not yet been identified. Genetic counseling is recommended for this patient and his/her family members. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ******************************************************************** Specimen Section ******************************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.7"/>              <hl7:title>Specimen and Genomic Source Class</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>Peripheral Blood</cda:item>                  <cda:item>Genomic source class: Germline</cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.2"/>                  <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>                  <hl7:value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>                  <hl7:specimen>                     <hl7:templateId root="2.16.840.1.113883.10.20.20.3.1"/>                    <hl7:specimenRole>                       <hl7:specimenPlayingEntity>                         <hl7:code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>                      </hl7:specimenPlayingEntity>                    </hl7:specimenRole>                  </hl7:specimen>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************************** Genetic Variations Section: Connexin 26 Full Gene Test ******************************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.8"/>          <hl7:title>Genetic Variations</hl7:title>          <!-- Structured representation of: Homozygous 109G>A (V37I), Exon 2, GJB2, Pathogenic -->           <hl7:entry>             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName="DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.5"/>                  <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HGNC"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.8"/>                  <hl7:code code="48013-7" codeSystemName="LOINC" displayName="Genomic Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NC_000013.10" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>                  <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.7"/>                  <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs72474224" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2"/>                  <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.2.1"/>                  <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1"/>                  <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val37Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.1.1"/>                  <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.3"/>                  <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1.4"/>                  <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6705-3" codeSystemName="LOINC" displayName="Homozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation testing-->               <hl7:entryRelationship typeCode="RSON">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation (should consider if MFST=manifistation as the code here) -->               <hl7:entryRelationship typeCode="SPRT">                 <hl7:observation classCode="OBS" moodCode="DEF">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6668-3" codeSystemName="LOINC" displayName="Pathogenic"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <!-- Structured representation of: Heterozygous 79G>A (V27I), Exon 2, GJB2, Benign-->           <hl7:entry>             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>              <hl7:code code="55208-3" codeSystemName="LOINC" displayName=" DNA Analysis Discrete Sequence Variant Panel"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48018-6" codeSystemName="LOINC" displayName="Gene Identifier"/>                  <hl7:value xsi:type="CD" code="GJB2" codeSystemName="HUGO"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>                  <hl7:value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48003-8" codeSystemName="LOINC" displayName="DNA Sequence Variation Identifier"/>                  <hl7:value xsi:type="CD" code="rs2274084" codeSystemName="dbSNP"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>                  <hl7:value xsi:type="CD" code="79G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48019-4" codeSystemName="LOINC" displayName="DNA Sequence Variation Type"/>                  <hl7:value xsi:type="CD" code="LA6690-7" codeSystemName="LOINC" displayName="Substitution"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48005-3" codeSystemName="LOINC" displayName="Amino Acid Change"/>                  <hl7:value xsi:type="CD" code="Val27Ile"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="48006-1" codeSystemName="LOINC" displayName="Amino acid change type"/>                  <hl7:value xsi:type="CD" code="LA6698-0" displayName="Missense"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="47999-8" codeSystemName="LOINC" displayName="DNA Region Name"/>                  <hl7:value xsi:type="ST">Exon 2</hl7:value>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:code code="53034-5" codeSystemName="LOINC" displayName=" Allelic State"/>                  <hl7:value xsi:type="CD" code="LA6706-1" codeSystemName="LOINC" displayName="Heterozygous"/>                </hl7:observation>              </hl7:entryRelationship>              <!-- pointing to the indication of performing this variation testing-->               <hl7:entryRelationship typeCode="RSON">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <!-- interpretation of the variation observation-->               <hl7:entryRelationship typeCode="SPRT">                 <hl7:observation classCode="OBS" moodCode="DEF">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.2.5.3"/>                  <hl7:code code="53037-8" codeSystemName="LOINC" displayName="Genetic disease sequence variation interpretation"/>                  <hl7:value xsi:type="CD" code="LA6675-8" codeSystemName="LOINC" displayName="Benign"/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> GJB2 Full Gene Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="CX26FULL" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 26 Full Gene Test">                     <!-- the original text allows us to point back to the narrative (any specific piece of it using the nesting content element as an anchor) -->                     <hl7:originalText>                       <hl7:reference value="#a1"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">                     <hl7:observation classCode="COND" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the test-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2 </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2 </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content>Mutations interpretation</cda:content>                    <cda:list>                       <cda:item>                         <cda:content>V37I - Pathogenic</cda:content>                      </cda:item>                      <cda:item>                         <cda:content>V27I - Benign</cda:content>                      </cda:item>                    </cda:list>                  </cda:item>                  <cda:item>                     <cda: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). </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************************** Genetic Variations Section: Connexin 30 Deletion Test ******************************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>             <!-- The core genomic observation (the 'finding')-->             <hl7:observation classCode="COND" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>              <hl7:code code="51959-5" displayName="DNA region of interest"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="GJB6-D13S1830"/>              <hl7:entryRelationship typeCode="SUBJ">                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="COMP">                 <!-- negationInd is set to "true" to signify that the deletion of the DNA region at stake was not found-->                 <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">                   <hl7:code code="48019-4" displayName="DNA Sequence Variation type"/>                  <hl7:value xsi:type="CD" code="LA6692-3" displayName="Deletion"/>                </hl7:observation>              </hl7:entryRelationship>              <hl7:entryRelationship typeCode="RSON">                 <hl7:observation classCode="COND" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                  <!-- a reference observation pointing to the indication for the test-->                   <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                  <hl7:code/>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> GJB6-D13S1830 Deletion Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Connexin 30 Deletion Test">                     <!-- the original text allows us to point back to the narrative (any specific piece of it using the nesting content element as an anchor) -->                     <hl7:originalText>                       <hl7:reference value="#a5"/>                    </hl7:originalText>                  </hl7:value>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Negative </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6- D13S1830 region of chromosome 13 was performed and did not detect the deletion. This test does not assess the DNA sequence of the GJB6 gene or detect other mutations that could affect the expression of the gene. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************************************* Genetic Variations Section: Mitochondrial Hearing Loss Genes Test ******************************************************************************* -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.2"/>          <hl7:title>Genetic Variations</hl7:title>          <hl7:entry>             <!-- The core genomic observation (the 'finding')-->             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:templateId root="2.16.840.1.113883.10.20.20.2.1"/>              <hl7:id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>              <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTTS1"/>              <hl7:entryRelationship typeCode="COMP">                 <!-- no mutations were found-->                 <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">                   <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">                     <hl7:observation classCode="OBS" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:entry>             <hl7:observation classCode="OBS" moodCode="EVN">               <hl7:code code="48018-6" displayName="Gene identifier"/>              <hl7:statusCode code="completed"/>              <hl7:effectiveTime value="200512011500"/>              <hl7:value xsi:type="CD" code="MTRNR1"/>              <hl7:entryRelationship typeCode="COMP">                 <!-- no mutations were found-->                 <hl7:observation classCode="OBS" moodCode="EVN" negationInd="true">                   <hl7:code code="48004-6" codeSystemName="LOINC" codeSystem="2.16.840.1.113883.6.1" displayName="DNA Sequence Variation"/>                  <hl7:entryRelationship typeCode="SUBJ">                     <hl7:observation classCode="OBS" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the structured entries within the Specimen section, representing the genomic source class and specimen-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entryRelationship>            </hl7:observation>          </hl7:entry>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.10"/>              <hl7:title>Tests Performed</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Mitochondrial Hearing Loss Genes Test </cda:content>                  </cda:item>                </cda:list>              </hl7:text>              <hl7:entry>                 <hl7:observation classCode="OBS" moodCode="EVN">                   <hl7:templateId root="2.16.840.1.113883.10.20.20.3.4"/>                  <hl7:code displayName="Test Performed"/>                  <hl7:statusCode code="completed"/>                  <hl7:effectiveTime value="200512011500"/>                  <hl7:value xsi:type="CD" code="TBD" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="MTTS1 and MTRNR1 Genes Test">                     <!-- the original text allows us to point back to the narrative (any specific piece of it using the nesting content element as an anchor) -->                     <hl7:originalText>                       <hl7:reference value="#a3"/>                    </hl7:originalText>                  </hl7:value>                  <hl7:entryRelationship typeCode="RSON">                     <hl7:observation classCode="COND" moodCode="EVN">                       <hl7:templateId root="2.16.840.1.113883.10.20.20.6"/>                      <!-- a reference observation pointing to the indication for the test-->                       <hl7:id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>                      <hl7:code/>                    </hl7:observation>                  </hl7:entryRelationship>                </hl7:observation>              </hl7:entry>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.12"/>              <hl7:title>Findings</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Negative </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.13"/>              <hl7:title>Interpretation</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> DNA sequencing did not detect the presence of any mutations in the MTTS1 and MTRNR1 genes. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>      <!-- ******************************************************** Test Information section ******************************************************** -->       <hl7:component>         <hl7:section>           <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9"/>          <hl7:title>Test Information</hl7:title>          <!-- ******************************************************** Background section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>              <hl7:title>Background</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Mutations in the GJB2 (connexin 26) gene are the most common cause of non syndromic hearing loss and are most often seen in a person with hearing loss that was found in early childhood without any other medical problems. The severity of the hearing loss can range from mild to profound. The inheritance pattern is usually autosomal recessive, requiring two mutations, one in each copy of the gene, to cause hearing loss. The GJB6- D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin 30 protein (Cx30). This deletion, when present in two copies or when combined with a single connexin 26 mutation, causes hearing loss. Although the frequency of mitochondrial hearing loss is unknown, studies suggest that mitochondrial mutations play an important role in inherited and acquired hearing impairment. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ******************************************************** Methodology section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>              <hl7:title>Methodology</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are amplified using flanking primer sets. PCR products are sequenced using an ABI fluorescence automatic DNA sequencer. This test does not detect large deletions or mutations in non-coding regions that could affect gene expression. This assay is greater than 99.9% accurate in detecting mutations in the sequences analyzed. Polymerase chain reaction (PCR) analysis is performed to detect the presence or absence of a deletion spanning the GJB6-D13S1830 region of chromosome 13. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>          <!-- ******************************************************** References section ******************************************************** -->           <hl7:component>             <hl7:section>               <hl7:templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>              <hl7:title>References</hl7:title>              <hl7:text>                 <cda:list>                   <cda:item>                     <cda:content> Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness Homepage. http://www.crg.es/deafness. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73: 1452-1458. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002;4(4): 258-74. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet. 2001 Aug;38(8):530-3. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1 (Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). http://www.genetests.org. </cda:content>                  </cda:item>                  <cda:item>                     <cda:content> Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F, Mondain M, Hoefsloot, LH Cremers CWRJ, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57. </cda:content>                  </cda:item>                </cda:list>              </hl7:text>            </hl7:section>          </hl7:component>        </hl7:section>      </hl7:component>    </hl7:structuredBody>  </hl7:component></ClinicalDocument>
Item DT Kard Konf Beschreibung Label hl7:ClinicalDocument (Gen...cht) @classCode cs 0 … 1 F DOCCLIN @moodCode cs 0 … 1 F EVN hl7:realmCode CS 0 … 1 R (Gen...cht) hl7:typeId II 1 … 1 R (Gen...cht) @root uid 1 … 1 F 2.16.840.1.113883.1.3 @extension st 1 … 1 F POCD_HD000040 hl7:templateId II 1 … 1 M (Gen...cht) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20 hl7:templateId II 1 … 1 R (Gen...cht) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.1 hl7:id II 1 … 1 R (Gen...cht) hl7:code CE 1 … 1 R (Gen...cht) @code CONF 0 … 1 F 51969-4 @codeSystem 0 … 1 F 2.16.840.1.113883.6.1 (LOINC) @displayName 0 … 1 F Genetic analysis summary report hl7:title 1 … 1 R Standardtitel ist "Genetischer Befundbericht" (Gen...cht) hl7:effectiveTime TS 1 … 1 R (Gen...cht)   genea-data​element-1.6120  Zeitstempel  GENeALYSE Datensatz hl7:confidentialityCode CE 1 … 1 R (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.16926 HL7 BasicConfidentialityKind (DYNAMIC) hl7:language​Code CS 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC) hl7:setId II 0 … 1 (Gen...cht) hl7:versionNumber INT 0 … 1 (Gen...cht) Eingefügt 1 … 1 M von 1.2.276.0.76.10.2001 CDA recordTarget (DYNAMIC) hl7:recordTarget 1 … 1 M (Gen...cht)   genea-data​element-1.1000  Patient  GENeALYSE Datensatz @typeCode 0 … 1 F RCT @context​Control​Code 0 … 1 F OP   Beispiel <recordTarget typeCode="RCT" contextControlCode="OP">   <patientRole classCode="PAT">     <!-- ... -->   </patientRole></recordTarget> hl7:patientRole 1 … 1 (Gen...cht) @classCode 0 … 1 F PAT   Beispiel <patientRole classCode="PAT">   <id extension="186245" root="1.2.276.0.76.3.1.139.3.871"/>  <patient classCode="PSN" determinerCode="INSTANCE">     <!-- ... -->   </patient></patientRole> hl7:id II 1 … * (Gen...cht)   Beispiel <id extension="6245" root="2.16.840.1.113883.3.933"/><id extension="1543627549" root="1.2.276.0.76.4.1"/> hl7:addr AD 0 … * Adresse des Patienten (Gen...cht)   genea-data​element-1.1100  Adresse  GENeALYSE Datensatz   Beispiel <addr use="HP">   <streetName>Dorfstraße</streetName>  <houseNumber>54</houseNumber>  <postalCode>51371</postalCode>  <city>Leverkusen</city></addr> hl7:telecom TEL 0 … * Kontaktdaten des Patienten (Gen...cht)   genea-data​element-1.1160  Kontaktdaten  GENeALYSE Datensatz   Beispiel <telecom use="H" value="tel:+4930140400"/><telecom use="MC" value="tel:+492211234567"/><telecom value="mailto:herberthannes.mustermann@provider.de"/> hl7:patient 0 … 1 (Gen...cht) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE   Beispiel <patient classCode="PSN" determinerCode="INSTANCE">   <name>     <!-- ... -->   </name>  <administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/>  <birthTime value="19541223"/></patient> Eingefügt 1 … 1 M von 1.2.276.0.76.10.90030 Personenname (DYNAMIC) hl7:name PN 1 … 1 M Die Reihenfolge der Namensbestandteile soll der typischen Schreibweise entsprechen. Zu beachten ist, dass prefix- und suffix-Elemente mit einem Leerzeichen enden müssen, wenn sie nicht unmittelbar an den folgenden Namensbestandteil anschließen sollen. (Gen...cht)   genea-data​element-1.1020  Name  GENeALYSE Datensatz   Beispiel Dr. med. Sine Johanna Gräfin von Oberberg <name>   <prefix qualifier="AC">Dr. med. </prefix>  <given>Sine Johanna</given>  <prefix qualifier="NB">Gräfin </prefix>  <prefix qualifier="VV">von </prefix>  <family>Oberberg</family></name>   Beispiel Prof. Dr. med. Dr. rer. nat. Fritz Julius Karl Freiherr von und zu Rathenburg vor der Isar, MdB <name>   <prefix qualifier="AC">Prof. Dr. med. Dr. rer. nat. </prefix>  <given>Fritz</given>  <given>Julius</given>  <given>Karl</given>  <prefix qualifier="NB">Freiherr </prefix>  <prefix qualifier="VV">von und zu </prefix>  <family>Rathenburg vor der Isar</family>  <suffix>, MdB</suffix></name> hl7:prefix ENXP 0 … * Titel (Gen...cht) wo [@qualifier='AC']   genea-data​element-1.1030  Titel  GENeALYSE Datensatz @qualifier set_cs 1 … 1 F AC hl7:given ENXP 0 … * Vorname (Gen...cht)   genea-data​element-1.1060  Vorname  GENeALYSE Datensatz hl7:prefix ENXP 0 … * Namenszusatz (Gen...cht) wo [@qualifier='NB']   genea-data​element-1.1050  Zuname  GENeALYSE Datensatz @qualifier set_cs 1 … 1 F NB hl7:prefix ENXP 0 … * Vorsatzwort (Gen...cht) wo [@qualifier='VV'] @qualifier set_cs 1 … 1 F VV hl7:family ENXP 0 … * Nachname (Gen...cht)   genea-data​element-1.1040  Nachname  GENeALYSE Datensatz hl7:suffix ENXP 0 … * Suffix (Gen...cht) hl7:administrative​Gender​Code CE 1 … 1 R Geschlecht (administrativ) des Patienten (Gen...cht)   genea-data​element-1.1070  Geschlecht  GENeALYSE Datensatz   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.1 Administrative Gender (HL7 V3) (DYNAMIC)   Beispiel <administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/> hl7:birthTime TS.​DATE.​MIN 1 … 1 R Geburtsdatum des Patienten (Gen...cht)   genea-data​element-1.1090  Geburtsdatum  GENeALYSE Datensatz   Beispiel <birthTime value="19491224"/> hl7:marital​Status​Code CE 0 … 1 Familienstand des Patienten (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12212 Marital Status (DYNAMIC)   Beispiel <maritalStatusCode code="S" displayName="Never Married" codeSystem="2.16.840.1.113883.5.2"/> hl7:religious​Affiliation​Code CE 0 … 1 Religionszugehörigkeit des Patienten (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19185 Religious Affiliation (DYNAMIC)   Beispiel <religiousAffiliationCode code="1077" displayName="Protestant" codeSystem="2.16.840.1.113883.5.1076"/> hl7:raceCode NP darf nicht verwendet werden (Gen...cht) hl7:ethnic​Group​Code NP darf nicht verwendet werden (Gen...cht)   genea-data​element-1.1080  Ethnie  GENeALYSE Datensatz hl7:guardian 0 … * Vormund/Sachwalter des Patienten (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) Auswahl 1 … 1 Elemente in der Auswahl: hl7:guardian​Person hl7:guardian​Organization hl7:guardian​Person (Gen...cht) hl7:name PN 1 … 1 M (Gen...cht) hl7:guardian​Organization (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:birthplace 0 … 1 Geburtsort des Patienten (Gen...cht)   Beispiel <birthplace>   <place>     <addr>Hamburg</addr>  </place></birthplace> hl7:place 1 … 1 M (Gen...cht) hl7:addr AD 1 … 1 M (Gen...cht) hl7:language​Communication 0 … * (Gen...cht) hl7:language​Code CS 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11526 HumanLanguage (DYNAMIC) hl7:modeCode CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12249 LanguageAbilityMode (DYNAMIC) hl7:proficiency​Level​Code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.12199 LanguageAbilityProficiency (DYNAMIC) hl7:preference​Ind BL 0 … 1 (Gen...cht) Eingefügt 1 … 1 M von 1.2.276.0.76.10.2007 CDA author Person (DYNAMIC) hl7:author 1 … 1 M (Gen...cht)   genea-data​element-1.6140  Labor / Institution/ Ansprechpartner  GENeALYSE Datensatz @typeCode 0 … 1 F AUT @context​Control​Code 0 … 1 F OP   Beispiel <author typeCode="AUT" contextControlCode="OP">   <time value="201306101654"/>  <assignedAuthor classCode="ASSIGNED">     <!-- ... -->   </assignedAuthor></author> hl7:functionCode CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10267 ParticipationFunction (DYNAMIC) hl7:time TS.​DATE.​MIN 1 … 1 (Gen...cht) hl7:assignedAuthor 1 … 1 (Gen...cht) @classCode 0 … 1 F ASSIGNED hl7:id II 1 … * (Gen...cht) hl7:code CE 0 … 1 Fachgebiet/Spezialität des Gesundheitsdienstleister, z. B. Ärztin/Arzt für Allgemeinmedizin, Approbierte Ärztin/Approbierter Arzt, Fachärztin/Facharzt für Anästhesiologie und Intensivmedizin (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:assigned​Person  … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 1 … 1 M (Gen...cht)   Beispiel <representedOrganization classCode="ORG" determinerCode="INSTANCE">   <name>     <!-- ... -->   </name></representedOrganization> Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2017 CDA dataEnterer (DYNAMIC) hl7:dataEnterer 0 … 1 (Gen...cht) @typeCode 0 … 1 F ENT @context​Control​Code 0 … 1 F OP hl7:time TS 0 … 1 gibt den Zeitpunkt an, an dem der Datentypist seinen Beitrag am Dokument beendet hat (Gen...cht) hl7:assignedEntity 1 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2018 CDA Informant (DYNAMIC) hl7:informant 0 … * (Gen...cht) @typeCode 0 … 1 F INF @context​Control​Code 0 … 1 F OP Auswahl 1 … 1 Elemente in der Auswahl: hl7:assignedEntity[hl7:assigned​Person] hl7:relatedEntity hl7:assignedEntity 0 … 1 Gesundheitsdienstleister (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:relatedEntity 0 … 1 Verwandte, Bekannte, Sozialhelfer, Betreuer/Erzieher (Gen...cht) Eingefügt von 1.2.276.0.76.10.90020 RelatedEntity (Body) (DYNAMIC) @classCode cs 1 … 1 R   CONF Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19316 RoleClassMutualRelationship (DYNAMIC) hl7:code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC) hl7:addr AD 0 … * (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:effectiveTime IVL_TS 0 … 1 (Gen...cht) hl7:relatedPerson 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) Eingefügt 1 … 1 M von 1.2.276.0.76.10.2004 CDA custodian (DYNAMIC) hl7:custodian 1 … 1 M (Gen...cht) @typeCode 0 … 1 F CST   Beispiel <custodian typeCode="CST">   <assignedCustodian classCode="ASSIGNED">     <representedCustodianOrganization classCode="ORG" determinerCode="INSTANCE">       <!-- ... -->     </representedCustodianOrganization>  </assignedCustodian></custodian> hl7:assignedCustodian 1 … 1 M (Gen...cht) @classCode 0 … 1 F ASSIGNED hl7:represented​Custodian​Organization 1 … 1 M (Gen...cht) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 1 … 1 M (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … 1 (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2005 CDA informationRecipient (DYNAMIC) hl7:information​Recipient 0 … * (Gen...cht) @typeCode cs 0 … 1   Typ des Empfängers: im @typeCode der Participation kann angegeben werden, ob es sich um einen primären Empfänger handelt (default) oder einen sekundären Empfänger („CC Kopie"). Der typeCode PRCP ist der default.   CONF @typeCode muss "PRCP" sein oder @typeCode muss "TRC" sein hl7:intended​Recipient 1 … 1 M (Gen...cht) hl7:id II 1 … * R (Gen...cht) Auswahl 1 … * Wenn der beabsichtigte Empfänger eine Person ist, dann wird dies durch die Anwesenheit der Person Klasse mit oder ohne zugehörige Organisation spezifiziert. Wenn der beabsichtigte Empfänger eine Organisation ist, wird nur die Organisation angegeben, die Person fehlt. Elemente in der Auswahl: hl7:information​Recipient hl7:received​Organization hl7:information​Recipient 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:received​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2020 CDA legalAuthenticator (DYNAMIC) hl7:legalAuthenticator 0 … 1 (Gen...cht) @typeCode 0 … 1 F LA @context​Control​Code 0 … 1 F OP hl7:time TS 1 … 1 R (Gen...cht) hl7:signatureCode CS 1 … 1 R (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC) hl7:assignedEntity 1 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2019 CDA authenticator (DYNAMIC) hl7:authenticator 0 … * (Gen...cht) @typeCode cs 0 … 1 F AUTHEN hl7:time TS 1 … 1 R (Gen...cht) hl7:signatureCode CS 1 … 1 R (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC) hl7:assignedEntity 1 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2023 CDA participant Einweiser (DYNAMIC) Einweisender/Zuweisender Arzt hl7:participant 0 … 1 (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2023']] @typeCode 1 … 1 F REF hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2023 hl7:time TS.​DATE.​MIN 0 … 1 R Einweisungsdatum und -zeit (Gen...cht)   Beispiel <time value="201408091624"/> hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F PROV hl7:id II 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 1 … 1 R (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2012 CDA participant Hausarzt (DYNAMIC) Hausarzt hl7:participant 0 … 1 (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2012']] @typeCode cs 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root uid 1 … 1 F 1.2.276.0.76.10.2012 hl7:functionCode CE 1 … * M (Gen...cht) @code CONF 1 … 1 F PCP @codeSystem 1 … 1 F 2.16.840.1.113883.5.88 (Participation Function) hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode cs 1 … 1 F PROV hl7:id II 0 … * An dieser Stelle kann die Arztnummer (LANR) unter Angabe der dazugehörigen OID übermittelt werden. (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2011 CDA participant Notfallkontakt (DYNAMIC) Notfall-Kontakt / Auskunftsberechtigte Person hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2011']] @typeCode 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2011 hl7:time IVL_TS 0 … 1 (Gen...cht)   Beispiel Teilnahmezeitraum, Notfallkontakt von 1. November 2013 bis 21. November 2013 (Ende des Tages) <time>   <low value="20131101"/>  <high value="201311212359"/></time>   Beispiel Teilnahmezeitpunkt , Notfallkontakt am 21. November 2013 <time value="20131121"/>   Beispiel Teilnahmezeitraum, Notfallkontakt ab 1. November 2013 <time>   <low value="20131101"/></time> hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F ECON hl7:code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2021 CDA participant Angehörige (DYNAMIC) Angehörige hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2021']] @typeCode 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2021 hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F PRS hl7:code CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19563 PersonalRelationshipRoleType (DYNAMIC) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2022 CDA participant Kostentraeger (DYNAMIC) Kostenträger/Versicherung hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2022']] @typeCode cs 1 … 1 F HLD hl7:templateId II 1 … * M (Gen...cht) @root uid 1 … 1 F 1.2.276.0.76.10.2022 hl7:time IVL_TS 0 … 1 Hier muss immer ein Quartalsende angegeben sein (MM/YY) => YYYYMMDD, z. B. Quartal I/2016, Quartalsende ist demnach März 2016 und wird zu 20160331 (Gen...cht)   Beispiel <time>   <high value="20131231"/></time> hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode cs 1 … 1 F POLHOLD hl7:id II 0 … * Versichertennummern (Gen...cht) hl7:code CE 0 … 1 Versichertenstatus (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 1.2.276.0.76.11.68 InsuredAssocEntity (DYNAMIC)   Beispiel <code code="SELF" codeSystem="2.16.840.1.113883.5.111" displayName="self">   <translation code="1" codeSystem="2.16.840.1.113883.3.7.1.1" displayName="Mitglied"/></code> hl7:translation CV 0 … 1 Codierungen des Versichertenstatus im Rahmen der GKV (Gen...cht) wo [@codeSystem='2.16.840.1.113883.3.7.1.1']   CONF Der Wert von @code muss gewählt werden aus dem Value Set 1.2.276.0.76.11.162 S_KBV_VERSICHERTENSTATUS (DYNAMIC) hl7:translation CV 0 … * Weitere Codierungen des Versichertenstatus (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht)   Schematron assert role  error     test not(hl7:code[@code='FAMDEP']) or hl7:associated​Person     Meldung Wenn das Versicherungsverhältnis "familienversichert" ist, dann muss eine associatedPerson angegeben sein   hl7:scoping​Organization 1 … 1 In scopingOrganization wird im id Attribut das Institutionskennzeichen (IKNR) des Kostenträgers mit @extension = die eigentliche IKNR und @root = "1.2.276.0.76.4.5" (Dies ist die OID für IK-Nummern in Deutschland) angegeben (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2025 CDA participant Ansprechpartner (DYNAMIC) Fachlicher Ansprechpartner hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2025']] @typeCode 1 … 1 F CALLBCK hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2025 hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F PROV hl7:addr AD 0 … 1 (Gen...cht) hl7:telecom TEL 1 … * M (Gen...cht) hl7:associated​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2026 CDA participant Betreuungsorganisation (DYNAMIC) Betreuende Organisation hl7:participant 0 … * (Gen...cht) wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2026']] @typeCode 1 … 1 F IND hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2026 hl7:associated​Entity 1 … 1 M (Gen...cht) @classCode 1 … 1 F CAREGIVER hl7:scoping​Organization 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … * von 1.2.276.0.76.10.2024 CDA participant Weitere Beteiligte (DYNAMIC) Weitere Beteiligte hl7:participant 0 … * (Gen...cht) @typeCode cs 1 … 1 R Typischerweise sind hier nur Codes für @typeCode zu verwenden, die nicht durch eine bereits existierende spezialisierte Participantion ausgedrückt werden wie z. B. author, authenticator etc.; es sind nicht alle Kombinationen von @typeCode, functionCode und associatedEntity/code sinnvoll.   CONF Der Wert von @typeCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10901 ParticipationType (DYNAMIC) @context​Control​Code 1 … 1 F OP hl7:functionCode CE 0 … 1 (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10267 ParticipationFunction (DYNAMIC) hl7:time IVL_TS 0 … 1 (Gen...cht) hl7:associated​Entity 1 … 1 R (Gen...cht) @classCode cs 1 … 1 R   CONF Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19313 RoleClassAssociative (DYNAMIC) hl7:id II 0 … * (Gen...cht) hl7:code CE 0 … 1 (Gen...cht) @codeSystem CONF 0 … 1 F 2.16.840.1.113883.5.111 (RoleCode) hl7:addr AD 0 … * (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:associated​Person 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2027 CDA encompassingEncounter Patientenkontakt (DYNAMIC) Patientenkontakt (Aufenthalt) hl7:componentOf 0 … 1 (Gen...cht) @typeCode cs 0 … 1 F COMP hl7:encompassing​Encounter 1 … 1 R (Gen...cht) @classCode cs 0 … 1 F ENC @moodCode cs 0 … 1 F EVN hl7:id II 0 … 1 Identifikationselement zur Aufnahme der Aufenthalts-Identifikation (Gen...cht) hl7:code CE 1 … 1 M (Gen...cht)   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.13955 ActEncounterCode (DYNAMIC)   Beispiel <code code="IMP" codeSystem="2.16.840.1.113883.5.4"/> Auswahl 1 … 1 Elemente in der Auswahl: hl7:effectiveTime[hl7:high] hl7:effectiveTime[@value] hl7:effectiveTime IVL_TS  … 1 R Zeitraum (Gen...cht) wo [hl7:high]   Beispiel Vom 7. Juni 2011 11:24 Uhr bis zum 11. Juni 2011 16:54 Uhr <effectiveTime>   <low value="201106071124"/>  <high value="201106111654"/></effectiveTime> hl7:effectiveTime TS  … 1 R Bestimmter Tag (Gen...cht) wo [@value] @value 1 … 1 R   Beispiel Am 7. Juni 2011 (ambulanter Besuch ohne genauere Zeitangaben des Tages) <effectiveTime value="20110607"/> hl7:responsible​Party 0 … 1 (Gen...cht) hl7:assignedEntity 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC) hl7:id II 1 … * R (Gen...cht) hl7:addr AD 0 … 1 R (Gen...cht) hl7:telecom TEL 0 … * R (Gen...cht) hl7:assigned​Person 1 … 1 M (Gen...cht) Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC) @classCode 0 … 1 F PSN @determiner​Code 0 … 1 F INSTANCE hl7:name PN 1 … 1 M (Gen...cht) hl7:represented​Organization 0 … 1 (Gen...cht) Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE hl7:id II 0 … * (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 0 … * (Gen...cht) hl7:addr AD 0 … 1 (Gen...cht) Eingefügt 0 … 1 R von 1.2.276.0.76.10.90021 Encounter Location (DYNAMIC) hl7:location 0 … 1 R (Gen...cht) @typeCode 0 … 1 F LOC   Beispiel <location typeCode="LOC">   <healthCareFacility classCode="SDLOC">     <!-- ... -->   </healthCareFacility></location> hl7:health​Care​Facility 1 … 1 M (Gen...cht) @classCode 0 … 1 F SDLOC   Beispiel <healthCareFacility classCode="SDLOC">   <serviceProviderOrganization classCode="ORG" determinerCode="INSTANCE">     <!-- ... -->   </serviceProviderOrganization></healthCareFacility> hl7:service​Provider​Organization 1 … 1 M (Gen...cht) @classCode 0 … 1 F ORG @determiner​Code 0 … 1 F INSTANCE   Beispiel <serviceProviderOrganization classCode="ORG" determinerCode="INSTANCE">   <name/>  <addr>     <!-- ... -->   </addr></serviceProviderOrganization> hl7:id II 1 … * R (Gen...cht) hl7:name ON 1 … 1 M (Gen...cht) hl7:telecom TEL 1 … * M (Gen...cht) hl7:addr AD 1 … 1 M (Gen...cht) Eingefügt 0 … 1 von 1.2.276.0.76.10.2015 Auftragsidentifikation (DYNAMIC) hl7:inFulfillmentOf 0 … 1 (Gen...cht)   genea-data​element-1.2270  Anforderung  GENeALYSE Datensatz @typeCode 1 … 1 F FLFS hl7:templateId II 1 … * M (Gen...cht) @root 1 … 1 F 1.2.276.0.76.10.2015 hl7:order 1 … 1 M Auftrag (Gen...cht) @classCode 1 … 1 F ACT @moodCode 1 … 1 F RQO hl7:id II 1 … 1 M Auftragsnummer, Anforderungsnummer (Gen...cht) Eingefügt 0 … 1 von 1.3.6.1.4.1.19376.1.3.3.1.6 Ordering Provider (DYNAMIC) hl7:participant 0 … 1 Referral Ordering Physician (Gen...cht)   genea-data​element-1.2130  Anforderung durch  GENeALYSE Datensatz @typeCode cs 1 … 1 F REF hl7:templateId II 1 … 1 (Gen...cht) @root uid 1 … 1 F 1.3.6.1.4.1.19376.1.3.3.1.6 hl7:time IVL_TS 1 … 1 R This element represents the date and time the order was placed. Time MAY be present. (Gen...cht) hl7:associated​Entity 1 … 1 (Gen...cht) hl7:addr AD 1 … * R The address of this person (referral ordering physician) SHALL be present. (Gen...cht) hl7:telecom TEL 1 … * R The telecom of this person (referral ordering physician) SHALL be present. (Gen...cht)   Schematron assert role  error     test not(hl7:assigned​Person) or hl7:assigned​Person/hl7:name     Meldung The <name> sub-element SHALL be present when <assignedPerson> present.   hl7:associated​Person 0 … 1 R (Gen...cht) hl7:scoping​Organization 0 … 1 (Gen...cht) hl7:component 1 … 1 (Gen...cht) @typeCode cs 0 … 1 F COMP @context​Conduction​Ind bl 1 … 1 R hl7:structuredBody 1 … 1 (Gen...cht) @classCode cs 0 … 1 F DOCBODY @moodCode cs 0 … 1 F EVN   Constraint Abschnitte und Unterabschnitte haben einen Titel und der Titel darf NICHT leer sein. Der Text einer Abschnittsüberschrift kann den Abschnittscode spezialisieren, indem er spezifischer ist, z. B. ein genetischer Testbericht für Hörverlust. Die Abschnitte MÜSSEN in der Reihenfolge angezeigt werden, in der sie in diesem Leitfaden aufgeführt sind. Daher MUSS SummarySection zuerst und TestInformationSection zuletzt angezeigt werden (sofern nicht in jedem TestDetailsSection vorhanden). Dazwischen kann die TestDetailsSection nach der Anzahl der durchgeführten Gentests wiederholt werden. hl7:section 1 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.13 Zusammenfassung Section (DYNAMIC) (Gen...cht) hl7:section 1 … * R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.18 Testdetails Section (DYNAMIC) (Gen...cht) hl7:section 1 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.19 Testinformationen Section (DYNAMIC) (Gen...cht)

CDA Header Level Templates

Es wurden keine für diesen Leitfaden spezifischen Header Level Templates definiert.

CDA Section Level Templates

Background Section

Id	2.16.840.1.113883.10.20.20.1.9.1 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	BackgroundSection	Bezeichnung	Background Section
Beschreibung The Background Section nests within the TestInformationSection and its text attribute consists of narrative describing background of the genetic test at stake. Future releases of standard may suggest templates for structured data representing background information.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9.1
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>  <title>Background</title>  <text>     <list>       <item>         <content> Mutations in the GJB2 (connexin 26) gene are the most common cause of non syndromic hearing loss and are most often seen in a person with hearing loss that was found in early childhood without any other medical problems. The severity of the hearing loss can range from mild to profound. The inheritance pattern is usually autosomal recessive, requiring two mutations, one in each copy of the gene, to cause hearing loss. The GJB6- D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin 30 protein (Cx30). This deletion, when present in two copies or when combined with a single connexin 26 mutation, causes hearing loss. Although the frequency of mitochondrial hearing loss is unknown, studies suggest that mitochondrial mutations play an important role in inherited and acquired hearing impairment. </content>      </item>    </list>  </text></section>
Item DT Kard Konf Beschreibung Label hl7:section (Bac...ion) hl7:templateId II 1 … 1 M (Bac...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.9.1 hl7:code 0 … 1 R (Bac...ion)   Constraint Gtr Background Section MAY contain a code that represents background information supporting the general description of the performed genetic test, e.g., LOINC code 35511-5, "Background information section". hl7:title 1 … 1 R (Bac...ion)   Constraint Title SHALL contain text that implies "Background information supporting the general description of the performed genetic test(s)"

Empfehlungen Section

Id	2.16.840.1.113883.2.6.60.13.10.14	Gültigkeit	2018‑10‑25 12:13:13
Status	Entwurf	Versions-Label
Name	EmpfehlungenSection	Bezeichnung	Empfehlungen Section
Beschreibung Die Bemerkungen-Section enthält Anmerkungen und Empfehlungen wie beispielsweise weitere Schritte, zusätzliche Tests und Untersuchungen, Verweis auf Spezialisten etc.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.14
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.1.1.5 Recommendations 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="2.16.840.1.113883.10.20.20.1.1.5"/>  <title>Recommendations</title>  <text>     <list>       <item>         <content> Although some cases may represent a coincidental carrier state, all of the studies have concluded that there are likely to be other genetic mutations that have not yet been identified. Genetic counseling is recommended for this patient and his/her family members. </content>      </item>    </list>  </text></section>
Item DT Kard Konf Beschreibung Label hl7:section (Emp...ion) hl7:templateId II 1 … 1 M (Emp...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.14 hl7:code 0 … 1 R CONF...R‑85   Constraint Gtr Recommendations Section MAY contain a code that represents recommendations followoing the testing results and interpretations. hl7:title ST 1 … 1 R (Emp...ion)   Constraint Title SHALL contain text that implies "Recommendations following results of the genetic testing and interpretations"   CONF Elementinhalt muss "Bemerkungen" sein

Findings Section

Id	2.16.840.1.113883.10.20.20.1.12 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	FindingsSection	Bezeichnung	Findings Section
Beschreibung The FindingSection nests within the TestDetailsSection and its main goal is to describe specific findings of genetic testing using the text attribute (narrative). Note that the structured data entries representing the findings are the core part of ClinicalGenomicStatement nesting in TestDetailsSection. Therefore, there are no GTR templates for structured findings, although it is possible to use the CDA generic entries to do so, in which case these entries SHALL be referenced from the respective ClinicalGenomicStatement.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.12
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.12"/>  <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>
Item DT Kard Konf Beschreibung Label hl7:section (Fin...ion) hl7:templateId II 1 … 1 M (Fin...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.12 hl7:code 0 … 1 R (Fin...ion)   Constraint Gtr Findings Section MAY contain a code that represents findings/results of the testing, e.g., SNOMED-CT code=2643621015, "Results section". hl7:title 1 … 1 R (Fin...ion)   Constraint Title SHALL contain text that implies "Findings/results of the performed genetic tests".

Indications Section

Id	2.16.840.1.113883.10.20.20.1.11 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	IndicationsSection	Bezeichnung	Indications Section
Beschreibung IndicationSection can nest in TestDetailsSection or SummarySection and its text attribute consists of narrative describing the indication of performing the genetic tests. The IndicationSection may also consist of structured indication observations that shall reference or be referenced from Clinical Genomic Statement instances. Common indications for preforming a genetic test often include family history of a familial (or inherited) disease or increased risk of developing a disease. Increasingly, molecular analysis of a patient's tumor is another common indication for genetic testing.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.11
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 3 Templates Benutzt als Name Version 2.16.840.1.113883.10.20.20.3.3 Containment Indication Observation DYNAMIC 2.16.840.1.113883.10.20.20.3.3.1 Containment Genetic Disease Assessed Indication Observation DYNAMIC 2.16.840.1.113883.10.20.20.3.3.2 Containment Medication Assessed Indication Observation DYNAMIC
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.11"/>  <title>Indications</title>  <text>     <list>       <item>         <content ID="a2">Indication: Profound sensorineural hearing loss</content>      </item>    </list>  </text>  <entry>     <observation classCode="COND" moodCode="EVN">       <templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>      <!-- .. -->     </observation>  </entry></section>
Item DT Kard Konf Beschreibung Label hl7:section (Ind...ion)   Constraint SHALL satisfy: This type of section can be either instantiated once within the Summary Section or optionally instantiated within each Test Details Section. In other words, if it is instantiated with the Summary Section, it cannot be instantiated elsewhere and if it is instantiated within any of the Test Details Sections, it cannot be instantiated within the Summary Section. hl7:templateId II 1 … 1 M (Ind...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.11 hl7:code 0 … 1 R CONF...R‑10   Constraint Gtr IndicationsSection MAY contain a code that represents indications of performing the testing. hl7:title 1 … 1 R (Ind...ion)   Constraint Title SHALL contain text that implies "Indications of performing genetic tests" hl7:entry 0 … * R Indication Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC) (Ind...ion) hl7:entry 0 … * R Genetic Disease Assessed Indication Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.3.1 Genetic Disease Assessed Indication Observation (DYNAMIC) (Ind...ion) hl7:entry 0 … * R Medication Assessed Indication Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.3.2 Medication Assessed Indication Observation (DYNAMIC) (Ind...ion)

Indikation Section

Id	2.16.840.1.113883.2.6.60.13.10.9	Gültigkeit	2018‑09‑24 11:31:00
Status	Entwurf	Versions-Label
Name	IndikationSection	Bezeichnung	Indikation Section
Beschreibung Die Indikation Section beinhaltet Angaben zur Indikation für eine genetische Untersuchung.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.9
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-1.2000  Indikation / Anforderung  GENeALYSE Datensatz
Benutzt	Benutzt 3 Templates Benutzt als Name Version 2.16.840.1.113883.10.20.20.3.3 Containment Indication Observation DYNAMIC 2.16.840.1.113883.10.20.20.3.3.1 Containment Genetic Disease Assessed Indication Observation DYNAMIC 2.16.840.1.113883.2.6.60.13.10.7 Containment Medikation Beurteilung Indikation DYNAMIC
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.1.11 Indications 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="2.16.840.1.113883.10.20.20.1.11"/>  <title>Indikation genetische Untersuchung</title>  <text>     <list>       <item>         <content ID="a2">Indikation: EGFR Resistenzuntersuchung</content>      </item>    </list>  </text>  <entry>     <observation classCode="COND" moodCode="EVN">       <templateId root="2.16.840.1.113883.2.6.60.13.10.7"/>      <!-- .. -->     </observation>  </entry></section>
Item DT Kard Konf Beschreibung Label hl7:section (Ind...ion)   genea-data​element-1.2000  Indikation / Anforderung  GENeALYSE Datensatz   Constraint SHALL satisfy: This type of section can be either instantiated once within the Summary Section or optionally instantiated within each Test Details Section. In other words, if it is instantiated with the Summary Section, it cannot be instantiated elsewhere and if it is instantiated within any of the Test Details Sections, it cannot be instantiated within the Summary Section. hl7:templateId II 1 … 1 M (Ind...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.11 hl7:templateId II 1 … 1 R (Ind...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.9 hl7:code 0 … 1 R CONF...R‑10   Constraint Gtr IndicationsSection MAY contain a code that represents indications of performing the testing. hl7:title ST 1 … 1 R (Ind...ion)   Constraint Indikation für genetische Untersuchung    CONF Elementinhalt muss "Indikation" sein hl7:entry 0 … * R Indication Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC) (Ind...ion) hl7:entry 0 … * R Genetic Disease Assessed Indication Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.3.1 Genetic Disease Assessed Indication Observation (DYNAMIC) (Ind...ion) hl7:entry 0 … * R Medication Assessed Indication Observation Beinhaltet 2.16.840.1.113883.2.6.60.13.10.7 Medikation Beurteilung Indikation (DYNAMIC) (Ind...ion)

Interpretation Section

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)

Methodology Section

Id	2.16.840.1.113883.10.20.20.1.9.2 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	MethodologySection	Bezeichnung	Methodology Section
Beschreibung The MethodologySection nests within the TestInformationSection and its text attribute consists of narrative describing methodology of the genetic test at stake. Where possible, use section entries to codify methods used in this genetic tests. Note that LOINC codes are being developed to capture methodology details for sequencing and gene chip tests and might be available in future releases.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9.2
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>  <title>Methodology</title>  <text>     <list>       <item>         <content> Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are amplified using flanking primer sets. PCR products are sequenced using an ABI fluorescence automatic DNA sequencer. This test does not detect large deletions or mutations in non-coding regions that could affect gene expression. This assay is greater than 99.9% accurate in detecting mutations in the sequences analyzed. Polymerase chain reaction (PCR) analysis is performed to detect the presence or absence of a deletion spanning the GJB6-D13S1830 region of chromosome 13. </content>      </item>    </list>  </text></section>
Item DT Kard Konf Beschreibung Label hl7:section (Met...ion) hl7:templateId II 1 … 1 M (Met...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.9.2 hl7:code 0 … 1 R (Met...ion)   Constraint Gtr Methodology Section MAY contain a code that represents methodology information about the performed genetic test. hl7:title 1 … 1 R (Met...ion)   Constraint Title SHALL contain text that implies "Methodology information about the performed genetic test(s)"

References Section

Id	2.16.840.1.113883.10.20.20.1.9.3 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	ReferencesSection	Bezeichnung	References Section
Beschreibung The ReferencesSection section consists of references to scientific literature that supports the description of the test. It nests within the TestInformationSection and its text attribute consists of a narrative describing scientific references of the genetic test, and optionally structured entries representing publications identified through common ids like PubMed ids and OMIM ids. For instance, PubMed id's may be provided as references to peer reviewed journal articles. OMIM id's may be provided to OMIM (Online Mendelian Inheritance in Man) records containing currated information (from peer reviewed literature).
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9.3
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>  <title>References</title>  <text>     <list>       <item>         <content> Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11. </content>      </item>      <item>         <content> Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness Homepage. http://www.crg.es/deafness. </content>      </item>      <item>         <content> del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73: 1452-1458. </content>      </item>      <item>         <content> Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9. </content>      </item>      <item>         <content> Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. </content>      </item>      <item>         <content> Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002;4(4): 258-74. </content>      </item>      <item>         <content> Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8. </content>      </item>      <item>         <content> Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet. 2001 Aug;38(8):530-3. </content>      </item>      <item>         <content> Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1 (Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). http://www.genetests.org. </content>      </item>      <item>         <content> Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F, Mondain M, Hoefsloot, LH Cremers CWRJ, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57. </content>      </item>    </list>  </text></section>
Item DT Kard Konf Beschreibung Label hl7:section (Ref...ion) hl7:templateId II 1 … 1 M (Ref...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.9.3 hl7:code 0 … 1 R CONF...R‑14   Constraint Gtr References Section MAY contain a code that represents scientific references cited by the Background and Methodology sections (e.g., LOINC code 34093-5, "References section"). hl7:title 1 … 1 R CONF...R‑15   Constraint Title SHALL contain text that implies "Scientific references cited by the Background and Methodology sections"

Specimen Section

Id	2.16.840.1.113883.10.20.20.1.7 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	SpecimenSection	Bezeichnung	Specimen Section
Beschreibung The SpecimenSection describes the specimen used for the genetic testing at stake and its genomic source class. The SpecimenSection may also consist of structured specimen data that shall reference or be referenced from Clinical Genomic Statement instances. This section can be placed in the SummarySection if the same specimen was used for all tests. Optionally, this section can reside in each test details section where full details about the specimen used in that test can be described.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.7
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.3.2 Containment Genomic Source Class DYNAMIC
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.7"/>  <title>Specimen and Genomic Source Class</title>  <text>     <list>       <item>Peripheral Blood</item>      <item>Genomic source class: Germline</item>    </list>  </text>  <entry>     <observation classCode="OBS" moodCode="EVN">       <templateId root="2.16.840.1.113883.10.20.20.3.2"/>      <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>      <code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>      <value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>      <specimen>         <templateId root="2.16.840.1.113883.10.20.20.3.1"/>        <specimenRole>           <specimenPlayingEntity>             <code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>          </specimenPlayingEntity>        </specimenRole>      </specimen>    </observation>  </entry></section>
Item DT Kard Konf Beschreibung Label hl7:section (Spe...ion)   Constraint SHALL satisfy: This type of section can be either instantiated once within the Summary Section or optionally instantiated within each Test Details Section. In other words, if it is instantiated with the Summary Section, it cannot be instantiated elsewhere and if it is instantiated within any of the Test Details Sections, it cannot be instantiated within the Summary Section. hl7:templateId II 1 … 1 M (Spe...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.7 hl7:code 0 … 1 R CONF...R‑33   Constraint Gtr Specimen Section MAY contain a code that represents descriptions of the specimen used in the testing (e.g., SNOMED-CT code 115267000, "Specimen description"). hl7:title 1 … 1 R CONF...R‑34   Constraint Title SHALL contain text that implies "Specimen Description" hl7:entry 0 … 1 R Genomic Source Class Beinhaltet 2.16.840.1.113883.10.20.20.3.2 Genomic Source Class (DYNAMIC) (Spe...ion)

Test Information Section

Id	2.16.840.1.113883.10.20.20.1.9 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	TestInformationSection	Bezeichnung	Test Information Section
Beschreibung The TestInformationSection template can nest within the TestDetailsSection or at the document level. Its sub-sections consist of narratives describing information on the genetic tests and corresponding structured data. If populated at the GTR document level, the information it represents applies to all tests described in the GTR. The overall structure of TestInformationSection is depicted in chart 4 of the slide deck enclosed in the GTR package.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 3 Templates Benutzt als Name Version 2.16.840.1.113883.10.20.20.1.9.1 Containment Background Section DYNAMIC 2.16.840.1.113883.10.20.20.1.9.2 Containment Methodology Section DYNAMIC 2.16.840.1.113883.10.20.20.1.9.3 Containment References Section DYNAMIC
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.9"/>  <title>Test Information</title>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>      <title>Background</title>      <text>         <list>           <item>             <content> Mutations in the GJB2 (connexin 26) gene are the most common cause of non syndromic hearing loss and are most often seen in a person with hearing loss that was found in early childhood without any other medical problems. The severity of the hearing loss can range from mild to profound. The inheritance pattern is usually autosomal recessive, requiring two mutations, one in each copy of the gene, to cause hearing loss. The GJB6- D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin 30 protein (Cx30). This deletion, when present in two copies or when combined with a single connexin 26 mutation, causes hearing loss. Although the frequency of mitochondrial hearing loss is unknown, studies suggest that mitochondrial mutations play an important role in inherited and acquired hearing impairment. </content>          </item>        </list>      </text>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>      <title>Methodology</title>      <text>         <list>           <item>             <content> Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are amplified using flanking primer sets. PCR products are sequenced using an ABI fluorescence automatic DNA sequencer. This test does not detect large deletions or mutations in non-coding regions that could affect gene expression. This assay is greater than 99.9% accurate in detecting mutations in the sequences analyzed. Polymerase chain reaction (PCR) analysis is performed to detect the presence or absence of a deletion spanning the GJB6-D13S1830 region of chromosome 13. </content>          </item>        </list>      </text>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>      <title>References</title>      <text>         <list>           <item>             <content> Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11. </content>          </item>          <item>             <content> Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness Homepage. http://www.crg.es/deafness. </content>          </item>          <item>             <content> del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73: 1452-1458. </content>          </item>          <item>             <content> Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9. </content>          </item>          <item>             <content> Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. </content>          </item>          <item>             <content> Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002;4(4): 258-74. </content>          </item>          <item>             <content> Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8. </content>          </item>          <item>             <content> Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet. 2001 Aug;38(8):530-3. </content>          </item>          <item>             <content> Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1 (Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). http://www.genetests.org. </content>          </item>          <item>             <content> Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F, Mondain M, Hoefsloot, LH Cremers CWRJ, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57. </content>          </item>        </list>      </text>    </section>  </component></section>
Item DT Kard Konf Beschreibung Label hl7:section (Tes...ion)   Constraint SHALL satisfy: This type of section can be either instantiated once at the document level or optionally instantiated within each Test Details Section. In other words, if it is instantiated at the document level it cannot be instantiated elsewhere and if it is instantiated within any of the Test Details Sections, it cannot be instantiated at the document level. Sub-sections of the TestInformationSection SHOULD appear in the order presented in this implementation guide. hl7:templateId II 1 … 1 M (Tes...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.9 hl7:code 0 … 1 CONF...R‑45   Constraint Gtr Test Information Section MAY contain a code that represents general description of the performed genetic tests (e.g., LOINC code 35510-7, "General information section"). hl7:title 1 … 1 R CONF...R‑46   Constraint Title SHALL contain text that implies "Generic description of the performed genetic test(s)" hl7:section 0 … 1 Background Section Beinhaltet 2.16.840.1.113883.10.20.20.1.9.1 Background Section (DYNAMIC) (Tes...ion) hl7:section 0 … 1 R Methodology Section Beinhaltet 2.16.840.1.113883.10.20.20.1.9.2 Methodology Section (DYNAMIC) (Tes...ion) hl7:section 0 … 1 References Section Beinhaltet 2.16.840.1.113883.10.20.20.1.9.3 References Section (DYNAMIC) (Tes...ion)

Test Performed Section

Id	2.16.840.1.113883.10.20.20.1.10 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	TestPerformedSection	Bezeichnung	Test Performed Section
Beschreibung The TestPerformedSection nests within the TestDetailsSection and its text attribute consists of a narrative describing the tests performed including those which did not have any genetic findings (e.g., no mutations identified within the region examined). It can consist of structured entries describing the performed tests. In priciple, this section should describe a single test, however, multiple observations can be populated to allow for proper description of a composite test.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.10
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.3.4 Containment Test Performed Observation DYNAMIC
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.10"/>  <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>
Item DT Kard Konf Beschreibung Label hl7:section (Tes...ion) hl7:templateId II 1 … 1 M (Tes...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.10 hl7:code 0 … 1 CONF...R‑12   Constraint Gtr Test Performed Section MAY contain a code that represents listing of genetic testing performed. hl7:title 1 … 1 R CONF...R‑13   Constraint Title SHALL contain text that implies "Genetic testing performed" hl7:entry 0 … * R Test Performed Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.4 Test Performed Observation (DYNAMIC) (Tes...ion)

Testdetails Section

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)

Testinformationen Section

Id	2.16.840.1.113883.2.6.60.13.10.19	Gültigkeit	2018‑10‑25 13:45:32
Status	Entwurf	Versions-Label
Name	TestinformationenSection	Bezeichnung	Testinformationen Section
Beschreibung Die Testinformationen-Section enthält Unter-Sections, welche narrativ Informationen zu durchgeführten genetischen Tests und den zugehörigen strukturierten Daten enthält.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.19
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 3 Templates Benutzt als Name Version 2.16.840.1.113883.10.20.20.1.9.1 Containment Background Section DYNAMIC 2.16.840.1.113883.10.20.20.1.9.2 Containment Methodology Section DYNAMIC 2.16.840.1.113883.10.20.20.1.9.3 Containment References Section DYNAMIC
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.1.9 Test Information 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="2.16.840.1.113883.10.20.20.1.9"/>  <title>Test Information</title>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.9.1"/>      <title>Background</title>      <text>         <list>           <item>             <content> Mutations in the GJB2 (connexin 26) gene are the most common cause of non syndromic hearing loss and are most often seen in a person with hearing loss that was found in early childhood without any other medical problems. The severity of the hearing loss can range from mild to profound. The inheritance pattern is usually autosomal recessive, requiring two mutations, one in each copy of the gene, to cause hearing loss. The GJB6- D13S1830 deletion removes most of the GJB6 gene, which encodes the connexin 30 protein (Cx30). This deletion, when present in two copies or when combined with a single connexin 26 mutation, causes hearing loss. Although the frequency of mitochondrial hearing loss is unknown, studies suggest that mitochondrial mutations play an important role in inherited and acquired hearing impairment. </content>          </item>        </list>      </text>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.9.2"/>      <title>Methodology</title>      <text>         <list>           <item>             <content> Exon 1 and the coding region of exon 2 of the connexin 26 (GJB2) gene are amplified using flanking primer sets. PCR products are sequenced using an ABI fluorescence automatic DNA sequencer. This test does not detect large deletions or mutations in non-coding regions that could affect gene expression. This assay is greater than 99.9% accurate in detecting mutations in the sequences analyzed. Polymerase chain reaction (PCR) analysis is performed to detect the presence or absence of a deletion spanning the GJB6-D13S1830 region of chromosome 13. </content>          </item>        </list>      </text>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.9.3"/>      <title>References</title>      <text>         <list>           <item>             <content> Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo, I, Van Camp G and Smith RJ. GJB2: the spectrum of deafnesscausing allele variants and their phenotype. Hum Mutat. 2004;24(4): 305-11. </content>          </item>          <item>             <content> Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness Homepage. http://www.crg.es/deafness. </content>          </item>          <item>             <content> del Castillo I, Moreno-Pelayo MA, del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C. and Moreno F. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73: 1452-1458. </content>          </item>          <item>             <content> Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet. 1998 Apr;62(4):792-9. </content>          </item>          <item>             <content> Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001 Sep;127(9):1037-42. </content>          </item>          <item>             <content> Kenneson A, Van Naarden Braun K and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002;4(4): 258-74. </content>          </item>          <item>             <content> Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000 Sep;110(9):1535-8. </content>          </item>          <item>             <content> Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M. Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet. 2001 Aug;38(8):530-3. </content>          </item>          <item>             <content> Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1 (Updated March 14, 2005) In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). http://www.genetests.org. </content>          </item>          <item>             <content> Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl H-HM, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Maldergem LV, Hilbert P, Roux A-F, Mondain M, Hoefsloot, LH Cremers CWRJ, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJH, and Van Camp G. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Am J Med Genet 2005 Dec;77(6):945-57. </content>          </item>        </list>      </text>    </section>  </component></section>
Item DT Kard Konf Beschreibung Label hl7:section (Tes...ion)   Constraint SHALL satisfy: This type of section can be either instantiated once at the document level or optionally instantiated within each Test Details Section. In other words, if it is instantiated at the document level it cannot be instantiated elsewhere and if it is instantiated within any of the Test Details Sections, it cannot be instantiated at the document level. Sub-sections of the TestInformationSection SHOULD appear in the order presented in this implementation guide. hl7:templateId II 1 … 1 M (Tes...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.19 hl7:code 0 … 1 CONF...R‑45   Constraint Gtr Test Information Section MAY contain a code that represents general description of the performed genetic tests (e.g., LOINC code 35510-7, "General information section"). hl7:title ST 1 … 1 R CONF...R‑46   Constraint Title SHALL contain text that implies "Generic description of the performed genetic test(s)"   CONF Elementinhalt muss "Hintergrundinformationen zum durchgeführten Test" sein hl7:section 0 … 1 Background Section Beinhaltet 2.16.840.1.113883.10.20.20.1.9.1 Background Section (DYNAMIC) (Tes...ion) hl7:section 0 … 1 R Methodology Section Beinhaltet 2.16.840.1.113883.10.20.20.1.9.2 Methodology Section (DYNAMIC) (Tes...ion) hl7:section 0 … 1 References Section Beinhaltet 2.16.840.1.113883.10.20.20.1.9.3 References Section (DYNAMIC) (Tes...ion)

Untersuchungsmaterial Section

Id	2.16.840.1.113883.2.6.60.13.10.17	Gültigkeit	2018‑10‑25 13:12:54
Status	Entwurf	Versions-Label
Name	ProbeSection	Bezeichnung	Untersuchungsmaterial Section
Beschreibung Die Untersuchungsmaterial-Section beschreibt das für die genetischen Untersuchungen genutzte Material.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.17
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-1.1500  Probeninformationen  GENeALYSE Datensatz
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.3.2 Containment Genomic Source Class DYNAMIC
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.1.7 Specimen 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="2.16.840.1.113883.10.20.20.1.7"/>  <title>Untersuchungsmaterial</title>  <text>     <list>       <item>Tumorgewebe</item>      <item>Somatisch</item>      <item>Tumorzellgehalt 50%</item>    </list>  </text>  <entry>     <observation classCode="OBS" moodCode="EVN">       <templateId root="2.16.840.1.113883.10.20.20.3.2"/>      <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>      <code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>      <value xsi:type="CD" code="LA6684-0" codeSystemName="LOINC" displayName="Somatic"/>      <specimen>         <templateId root="2.16.840.1.113883.10.20.20.3.1"/>        <specimenRole>           <specimenPlayingEntity>             <code code="258435002" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Tumor tissue sample"/>          </specimenPlayingEntity>        </specimenRole>      </specimen>    </observation>  </entry></section>
Beispiel	Beispiel <section>   <templateId root="2.16.840.1.113883.10.20.20.1.7"/>  <title>Specimen and Genomic Source Class</title>  <text>     <list>       <item>Peripheral Blood</item>      <item>Genomic source class: Germline</item>    </list>  </text>  <entry>     <observation classCode="OBS" moodCode="EVN">       <templateId root="2.16.840.1.113883.10.20.20.3.2"/>      <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>      <code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>      <value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>      <specimen>         <templateId root="2.16.840.1.113883.10.20.20.3.1"/>        <specimenRole>           <specimenPlayingEntity>             <code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>          </specimenPlayingEntity>        </specimenRole>      </specimen>    </observation>  </entry></section>
Item DT Kard Konf Beschreibung Label hl7:section (Pro...ion)   genea-data​element-1.1500  Probeninformationen  GENeALYSE Datensatz   Constraint SHALL satisfy: This type of section can be either instantiated once within the Summary Section or optionally instantiated within each Test Details Section. In other words, if it is instantiated with the Summary Section, it cannot be instantiated elsewhere and if it is instantiated within any of the Test Details Sections, it cannot be instantiated within the Summary Section. hl7:templateId II 1 … 1 M (Pro...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.17 hl7:code 0 … 1 R CONF...R‑33   Constraint Gtr Specimen Section MAY contain a code that represents descriptions of the specimen used in the testing (e.g., SNOMED-CT code 115267000, "Specimen description"). hl7:title ST 1 … 1 R CONF...R‑34   Constraint Title SHALL contain text that implies "Specimen Description"   CONF Elementinhalt muss "Untersuchungsmaterial" sein hl7:entry 0 … 1 R Genomic Source Class Beinhaltet 2.16.840.1.113883.10.20.20.3.2 Genomic Source Class (DYNAMIC) (Pro...ion)

Zusammenfassende Interpretation Section

Id	2.16.840.1.113883.2.6.60.13.10.10	Gültigkeit	2018‑09‑24 11:41:37
Status	Entwurf	Versions-Label
Name	ZusammenfassendeInterpretationSection	Bezeichnung	Zusammenfassende Interpretation Section
Beschreibung Zusammenfassende Beurteilung aller durchgeführter genetischer Untersuchungen.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.10
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.2.4 Containment Clinical Genomic Statement Overall Interpretation DYNAMIC
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.1.1.1 Overall Interpretation 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="2.16.840.1.113883.10.20.20.1.1.1"/>  <title>Zusammenfassende Beurteilung</title>  <text>     <list>       <item>         <content styleCode="Bold">Positiv</content>      </item>      <item>         <content> In der Parallelsequenzierung bestätigt sich die Mutation in Exon 21 des EGFR-Gens. </content>      </item>    </list>  </text></section>
Item DT Kard Konf Beschreibung Label hl7:section (Zus...ion) hl7:templateId II 1 … 1 M (Zus...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.1.1 hl7:templateId II 1 … 1 R (Zus...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.10 hl7:code 0 … 1 R (Zus...ion)   Constraint Gtr Overall Interpretation Section MAY contain a code that represents an overall interpretation summarizing the interpretations of the various genetic testing results/findings in a GTR Document. hl7:title ST 1 … 1 R CONF...R‑36   Constraint Title SHALL contain text that implies "An overall interpretation summarizing the interpretations of the various genetic testing results/findings in a GTR Document"   CONF Elementinhalt muss "Zusammenfassende Interpretation" sein hl7:entry 0 … 1 R Clinical Genomic Statement Overall Interpretation Beinhaltet 2.16.840.1.113883.10.20.20.2.4 Clinical Genomic Statement Overall Interpretation (DYNAMIC) (Zus...ion)

Zusammenfassung Durchgeführte Untersuchungen Section

Id	2.16.840.1.113883.2.6.60.13.10.8	Gültigkeit	2018‑09‑24 11:17:36
Status	Entwurf	Versions-Label
Name	ZusammenfassungDurchgefuehrteUntersuchungenSection	Bezeichnung	Zusammenfassung Durchgeführte Untersuchungen Section
Beschreibung Narrative, zusammenfassende Beschreibung aller durchgeführter Tests im Rahmen eines Befundes.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.8
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.3.4 Containment Test Performed Observation DYNAMIC
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.1.1.6 Summary Of Tests Performed 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="2.16.840.1.113883.2.6.60.13.10.8"/>  <title>Zusammenfassung molekularpathologischer Untersuchungen</title>  <text>     <list>       <item>         <content ID="a1"> Mutationsanalyse mittels Parallelsequenzierung (Next Generation Sequencing) von Multiplex PCR Amplikons des Lungen-Panels. </content>      </item>    </list>  </text></section>
Item DT Kard Konf Beschreibung Label hl7:section (Zus...ion) hl7:templateId II 1 … 1 M (Zus...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.1.1.6 hl7:templateId II 1 … 1 R (Zus...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.8 hl7:code 0 … 1 R (Zus...ion)   Constraint Gtr Summary Of Tests Performed Section MAY contain a code that represents the summary of all performed genetic testing. hl7:title 1 … 1 R (Zus...ion)   Constraint Title SHALL contain text that implies "Summary of all performed genetic testing" hl7:entry 0 … * R Test Performed Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.4 Test Performed Observation (DYNAMIC) (Zus...ion)

Zusammenfassung Section

Id	2.16.840.1.113883.2.6.60.13.10.13	Gültigkeit	2018‑10‑25 12:04:03
Status	Entwurf	Versions-Label
Name	ZusammenfassungSection	Bezeichnung	Zusammenfassung Section
Beschreibung Die Zusammenfassung-Section besteht aus mehreren Unter-Sections, welche die zusammenfassende Interpretation der verschiedenen durchgeführten Tests als auch Indikation, Bemerkungen und Informationen zum Probenmaterial enthalten.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.13
Klassifikation	CDA Section level template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 5 Templates Benutzt als Name Version 2.16.840.1.113883.2.6.60.13.10.9 Containment Indikation Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.8 Containment Zusammenfassung Durchgeführte Untersuchungen Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.10 Containment Zusammenfassende Interpretation Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.14 Containment Empfehlungen Section DYNAMIC 2.16.840.1.113883.2.6.60.13.10.17 Containment Untersuchungsmaterial Section DYNAMIC
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.1.1 Summary 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="2.16.840.1.113883.10.20.20.1.1"/>  <title>Summary</title>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.11"/>      <title>Indications</title>      <text>         <list>           <item>             <content ID="a2">Indication: Profound sensorineural hearing loss</content>          </item>        </list>      </text>      <entry>         <observation classCode="COND" moodCode="EVN">           <templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>          <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>          <code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>          <value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">             <originalText>               <reference value="#a2"/>            </originalText>          </value>          <reference typeCode="XCRPT">             <externalObservation>               <id root="2.16.840.1.113883.19.1.2765"/>            </externalObservation>          </reference>        </observation>      </entry>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.1.6"/>      <title>Summary of Tests Performed</title>      <text>         <list>           <item>             <content ID="a1"> GJB2 Full Gene Test </content>          </item>          <item>             <content ID="a5"> GJB6-D13S1830 deletion </content>          </item>          <item>             <content ID="a3"> Mitochondrial Hearing Loss Mutation Test </content>          </item>        </list>      </text>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.1.1"/>      <title>Overall Interpretation</title>      <text>         <list>           <item>             <content styleCode="Bold">Inconclusive.</content>          </item>          <item>             <content> DNA sequencing detected two changes in the GJB2 gene, 79G>A (V27I) and 109G>A (V37I). The V27I change 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>          <item>             <content> GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-D13S1830 region of chromosome 13 was performed and did not detect the deletion. This test does not assess the DNA sequence of the GJB6 gene or detect other mutations that could affect the expression of the gene. </content>          </item>          <item>             <content> Mitochondrial Hearing Loss mutations: Targeted bidirectional sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the presence of these mutations. </content>          </item>        </list>      </text>      <entry>         <observation classCode="OBS" moodCode="EVN">           <templateId root="2.16.840.1.113883.10.20.20.2.4"/>          <id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>          <code code="55232-3" codeSystemName="LOINC" displayName="Genetic analysis summary panel"/>          <statusCode code="completed"/>          <entryRelationship typeCode="SUBJ">             <organizer classCode="BATTERY" moodCode="EVN">               <templateId root="2.16.840.1.113883.10.20.20.5.1"/>              <statusCode code="completed"/>              <component>                 <observation classCode="OBS" moodCode="EVN">                   <templateId root="2.16.840.1.113883.10.20.20.6"/>                  <id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>                  <code/>                </observation>              </component>              <component>                 <observation classCode="OBS" moodCode="EVN">                   <templateId root="2.16.840.1.113883.10.20.20.6"/>                  <id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>                  <code/>                </observation>              </component>              <component>                 <observation classCode="OBS" moodCode="EVN">                   <templateId root="2.16.840.1.113883.10.20.20.6"/>                  <id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>                  <code/>                </observation>              </component>              <component>                 <observation classCode="OBS" moodCode="EVN">                   <templateId root="2.16.840.1.113883.10.20.20.6"/>                  <id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>                  <code/>                </observation>              </component>            </organizer>          </entryRelationship>          <entryRelationship typeCode="RSON">             <observation classCode="COND" moodCode="EVN">               <templateId root="2.16.840.1.113883.10.20.20.6"/>              <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="2.16.840.1.113883.10.20.20.2.5.5"/>              <code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>              <statusCode code="completed"/>              <effectiveTime value="200512011500"/>              <value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>              <performer typeCode="PRF">                 <assignedEntity>                   <id root="2.16.840.1.113883.19.3.2409.345"/>                  <representedOrganization>                     <name>The New Genetic Testing Analysis Service</name>                  </representedOrganization>                </assignedEntity>              </performer>            </observation>          </entryRelationship>        </observation>      </entry>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.1.5"/>      <title>Recommendations</title>      <text>         <list>           <item>             <content> Although some cases may represent a coincidental carrier state, all of the studies have concluded that there are likely to be other genetic mutations that have not yet been identified. Genetic counseling is recommended for this patient and his/her family members. </content>          </item>        </list>      </text>    </section>  </component>  <component>     <section>       <templateId root="2.16.840.1.113883.10.20.20.1.7"/>      <title>Specimen and Genomic Source Class</title>      <text>         <list>           <item>Peripheral Blood</item>          <item>Genomic source class: Germline</item>        </list>      </text>      <entry>         <observation classCode="OBS" moodCode="EVN">           <templateId root="2.16.840.1.113883.10.20.20.3.2"/>          <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>          <code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>          <value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>          <specimen>             <templateId root="2.16.840.1.113883.10.20.20.3.1"/>            <specimenRole>               <specimenPlayingEntity>                 <code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>              </specimenPlayingEntity>            </specimenRole>          </specimen>        </observation>      </entry>    </section>  </component></section>
Item DT Kard Konf Beschreibung Label hl7:section (Zus...ion)   Constraint Unterabschnitte des Abschnitts SummarySection SOLLTEN in der in diesem Implementierungsleitfaden angegebenen Reihenfolge angezeigt werden. hl7:templateId II 1 … 1 M (Zus...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.13 hl7:code 0 … 1 R (Zus...ion)   Constraint Gtr Summary Section KANN einen Code enthalten, der die Zusammenfassung aller in diesem Dokument beschriebenen Gentests darstellt. hl7:title ST 1 … 1 R (Zus...ion)   CONF Elementinhalt muss "Zusammenfassung" sein hl7:section 0 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.9 Indikation Section (DYNAMIC) (Zus...ion) hl7:section 0 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.8 Zusammenfassung Durchgeführte Untersuchungen Section (DYNAMIC) (Zus...ion) hl7:section 0 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.10 Zusammenfassende Interpretation Section (DYNAMIC) (Zus...ion) hl7:section 0 … 1 R Beinhaltet 2.16.840.1.113883.2.6.60.13.10.14 Empfehlungen Section (DYNAMIC) (Zus...ion) hl7:section 0 … 1 Beinhaltet 2.16.840.1.113883.2.6.60.13.10.17 Untersuchungsmaterial Section (DYNAMIC) (Zus...ion)

CDA Entry Level Templates

Clinical Genomic Statement

Id	2.16.840.1.113883.10.20.20.2 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	ClinicalGenomicStatement	Bezeichnung	Clinical Genomic Statement
Beschreibung The ClinicalGenomicStatement (CGS) template is the main vehicle of representing structured data in the GTR Implementation Guide. At its core, there is a genetic observation finding (result), e.g., a genetic variation, which can be associated with the following: more observations that describe the core observation in more detail (GenomicAssociatedObservation), e.g., amino acid change type; indications for performing this genetic observation (IndicationObservation), e.g., the genetic disease being assessed; and interpretations of the observation finding (InterpretivePhenotype), e.g., the mutation is pathogenic. In addition, it is important to associate a specimen and genomic source class with the core genetic finding, and optionally other performers of the genetic observation or the interpretation than those listed in the GTR header could be specified as part the CGS template. The overall structure of CGS is depicted in chart 5 of the slide deck enclosed in the GTR package. Due to the complexity of the interpretation of genetic observations, this template disallows the use of the interpretationCode attribute, rather uses an association to InterpretivePhenotype. The latter is constrained by several of its sub-templates in order to suggest binding to LOINC value sets describing interpretations of genetic testing. For example, ClinicalGenomicStatementGeneticVariation is a sub-template of ClinicalGenomicStatement and is associated with InterpretivePhenotypeGeneticVariation which is a sub-template of InterpretivePhenotype and its code and value attributes may be bound to LOINC codes representing interpretations of genetic findings. All GTR structured data entries shall be part of CGS instances so that parsing applications can find the full semantics explicitly represented in this single and coherent structure. Sub-sections such as Indications, Interpretations and Specimen are mainly for presenting the data for human viewing (narrative), but they may also contain structured data that shall reference or be referenced from CGS. By using the referencing mechanism (explained in the GenomicObservationReference template), it is possible to have less redundant documents, e.g., in the case where all tests reported in a GTR document have the same indication, an Indications section in the Summary section consists of a full-blown indication observation which all CGS indication observations reference. Note that CGS structured entries may point to the respective narrative in sub-sections by means of XML ID (see examples in the GTR samples enclosed in the GTR package). This mechanism can be useful in cases where the structured data has been generated by automated processes rather than by human coders.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.2
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 4 Templates Benutzt als Name Version 2.16.840.1.113883.10.20.20.3.3 Containment Indication Observation DYNAMIC 2.16.840.1.113883.10.20.20.2.5 Containment Interpretive Phenotype DYNAMIC 2.16.840.1.113883.10.20.20.3.2 Containment Genomic Source Class DYNAMIC 2.16.840.1.113883.10.20.20.4 Containment Genomic Associated Observation DYNAMIC
Beispiel	Beispiel <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>
Item DT Kard Konf Beschreibung Label hl7:observation (Cli...ent) hl7:templateId II 1 … 1 M (Cli...ent) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.2 hl7:code 1 … 1 R The code attribute of a clinical genomic statement characterizes the type of data it represents (e.g., genetic variation) and specifically it indicates the type of information assigned to the value attribute of that clinical genomic statement. (Cli...ent) hl7:value 0 … 1 (Cli...ent) hl7:entryRelationship 1 … 1 R Indication Observation Beinhaltet 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC) (Cli...ent) @typeCode cs 1 … 1 F RSON hl7:entryRelationship 0 … 1 R Interpretive Phenotype Beinhaltet 2.16.840.1.113883.10.20.20.2.5 Interpretive Phenotype (DYNAMIC) (Cli...ent) @typeCode cs 1 … 1 F SPRT hl7:entryRelationship 0 … 1 R Genomic Source Class Beinhaltet 2.16.840.1.113883.10.20.20.3.2 Genomic Source Class (DYNAMIC) (Cli...ent) @typeCode cs 1 … 1 F SUBJ hl7:performer 0 … * Use this performer association if the performer(s) of the genomic observation (i.e., the source of this performer association) are different than the performer(s) indicated at a higher level (e.g., the GTR header). (Cli...ent)   Constraint Contains exactly one [1..1] CDA Performer2 hl7:entryRelationship 1 … 1 R Genomic Associated Observation Beinhaltet 2.16.840.1.113883.10.20.20.4 Genomic Associated Observation (DYNAMIC) (Cli...ent) @typeCode cs 1 … 1 F SUBJ

Clinical Genomic Statement Overall Interpretation

Id	2.16.840.1.113883.10.20.20.2.4 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	ClinicalGenomicStatementOverallInterpretation	Bezeichnung	Clinical Genomic Statement Overall Interpretation
Beschreibung The ClinicalGenomicStatementOverallInterpretation template is a sub-template of ClinicalGenomicStatement (CGS). It is used by the OverallInterpretationSection to carry the overall interpretation of all genomic observations in a GTR document. The overall interpretation is represented by the InterpretivePhenotype part of the CGS. Use the GenomicObservationsOrganizer template to have references to genomic observations in the GTR document that were the basis of deducing the overall interpretation. In this way, the overall interpretation code is not presented to the parsing application as a dissociated item lacking contextual data; rather it is possible for decision support application to trace the evidences leading to this piece of information. Note that the representing the algorithm used to compute the overall interpretation is out of scope for this standard, however, it is recommended to identify the algorithm in the methodCode of the InterpretivePhenotype portion of this template. The structure of ClinicalGenomicStatementOverallInterpretation is depicted in chart 6 of the slide deck enclosed in the GTR package.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.2.4
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.5.1 Containment Genomic Observations Organizer DYNAMIC
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr- Spezialisierung: Template 2.16.840.1.113883.10.20.20.2 Clinical Genomic Statement (DYNAMIC) ref gtr-
Beispiel	Beispiel <observation classCode="OBS" moodCode="EVN">   <templateId root="2.16.840.1.113883.10.20.20.2.4"/>  <id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>  <code code="55232-3" codeSystemName="LOINC" displayName="Genetic analysis summary panel"/>  <statusCode code="completed"/>  <entryRelationship typeCode="SUBJ">     <organizer classCode="BATTERY" moodCode="EVN">       <templateId root="2.16.840.1.113883.10.20.20.5.1"/>      <statusCode code="completed"/>      <component>         <observation classCode="OBS" moodCode="EVN">           <templateId root="2.16.840.1.113883.10.20.20.6"/>          <id root="2.16.840.1.113883.18.12.7.30.9.8.1"/>          <code/>        </observation>      </component>      <component>         <observation classCode="OBS" moodCode="EVN">           <templateId root="2.16.840.1.113883.10.20.20.6"/>          <id root="2.16.840.1.113883.18.12.7.30.9.8.2"/>          <code/>        </observation>      </component>      <component>         <observation classCode="OBS" moodCode="EVN">           <templateId root="2.16.840.1.113883.10.20.20.6"/>          <id root="2.16.840.1.113883.18.12.7.30.9.8.3"/>          <code/>        </observation>      </component>      <component>         <observation classCode="OBS" moodCode="EVN">           <templateId root="2.16.840.1.113883.10.20.20.6"/>          <id root="2.16.840.1.113883.18.12.7.30.9.8.4"/>          <code/>        </observation>      </component>    </organizer>  </entryRelationship>  <entryRelationship typeCode="RSON">     <observation classCode="COND" moodCode="EVN">       <templateId root="2.16.840.1.113883.10.20.20.6"/>      <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="2.16.840.1.113883.10.20.20.2.5.5"/>      <code code="51968-6" codeSystemName="LOINC" displayName="Genetic disease analysis overall interpretation"/>      <statusCode code="completed"/>      <effectiveTime value="200512011500"/>      <value xsi:type="CD" code="LA9663-1" displayName="Inconclusive"/>      <performer typeCode="PRF">         <assignedEntity>           <id root="2.16.840.1.113883.19.3.2409.345"/>          <representedOrganization>             <name>The New Genetic Testing Analysis Service</name>          </representedOrganization>        </assignedEntity>      </performer>    </observation>  </entryRelationship></observation>
Item DT Kard Konf Beschreibung Label hl7:observation (Cli...ion) @classCode cs 0 … 1     CONF Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11527 ActClass (DYNAMIC) @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Cli...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.2.4 hl7:entryRelationship 0 … 1 R Genomic Observations Organizer Beinhaltet 2.16.840.1.113883.10.20.20.5.1 Genomic Observations Organizer (DYNAMIC) (Cli...ion) @typeCode cs 1 … 1 F SPRT

Genetic Disease Assessed Indication Observation

Id	2.16.840.1.113883.10.20.20.3.3.1 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	GeneticDiseaseAssessedIndicationObservation	Bezeichnung	Genetic Disease Assessed Indication Observation
Beschreibung	TheGeneticDiseaseIndicationObservation represents the genetic disease being assessed. The SNOMED terminology is recommended for representing the disease assessed.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.3.1
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr- Spezialisierung: Template 2.16.840.1.113883.10.20.20.3.3 Indication Observation (2013‑02‑01) ref gtr-
Beispiel	Beispiel <observation classCode="COND" moodCode="EVN">   <templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>  <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>  <code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>  <value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">     <originalText>       <reference value="#a2"/>    </originalText>  </value>  <reference typeCode="XCRPT">     <externalObservation>       <id root="2.16.840.1.113883.19.1.2765"/>    </externalObservation>  </reference></observation>
Item DT Kard Konf Beschreibung Label hl7:observation (Gen...ion) @classCode cs 0 … 1 F COND @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Gen...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.3.3.1 hl7:code 1 … 1 R (Gen...ion) @code CONF 0 … 1 F 51967-8 @codeSystem 0 … 1 F 2.16.840.1.113883.6.1 (LOINC) @codeSystemName 0 … 1 F LOINC @displayName 0 … 1 F Genetic disease assessed hl7:value CD 1 … 1 R (Gen...ion)

Genomic Associated Observation

Id	2.16.840.1.113883.10.20.20.4 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	GenomicAssociatedObservation	Bezeichnung	Genomic Associated Observation
Beschreibung The GenomicAssociatedObservation template can be asscoiated with a core genomic observation (as part of the ClinicalGenomicStatement) to describe it in more detail (e.g., the amino acid change type of a point genetic variation). Note that the overall structure of ClinicalGenomicStatement is depicted in chart 5 of the slide deck enclosed in the GTR package.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.4
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <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>
Item DT Kard Konf Beschreibung Label hl7:observation SHALL satisfy: GenomicAssociatedObservation shall be associated with a GenomicObservation within a ClinicalGenomicStatement. (Gen...ion) @classCode cs 0 … 1 F OBS @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Gen...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.4 hl7:code 1 … 1 R (Gen...ion) hl7:value 0 … 1 R (Gen...ion) hl7:methodCode 0 … * R (Gen...ion)

Genomic Observation Reference

Id	2.16.840.1.113883.10.20.20.6 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	GenomicObservationReference	Bezeichnung	Genomic Observation Reference
Beschreibung The GenomicObservationReference template serves as an internal reference mechanism (within the GTR) to avoid unnecessary duplication of observations. For example, in the overall interpretation section, in order to substantiate the overall interpretation and point to the genomic observations used to deduce the overall interpretation, it is possible to place several genomic observation references in a genomic observations organizer that is associated with the overall interpretation. Also, the reference can be used to point to an indication or specimen information described in another area of the document.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.6
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <observation classCode="COND" moodCode="EVN">   <templateId root="2.16.840.1.113883.10.20.20.6"/>  <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>  <code/></observation>
Item DT Kard Konf Beschreibung Label hl7:observation SHALL satisfy: GenomicObservationReference shall not have any attribue except for id. For CDA R2 compliance it is necessary to add a code attribute but that attribute shall not carry any semantics ( i.e., use "<code/>"). (Gen...nce) @classCode cs 0 … 1     CONF Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11527 ActClass (DYNAMIC) @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Gen...nce) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.6 hl7:id 1 … 1 R (Gen...nce)

Genomic Observations Organizer

Id	2.16.840.1.113883.10.20.20.5.1 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	GenomicObservationsOrganizer	Bezeichnung	Genomic Observations Organizer
Beschreibung This organizer is associated with an overall interpretation and contains several references to clinical genomic statements, on the basis of which the overall interpretation was concluded. Note that the overall structure of ClinicalGenomicStatementOverallInterpretation is depicted in chart 6 of the slide deck enclosed in the GTR package.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.5.1
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Benutzt	Benutzt 1 Template Benutzt als Name Version 2.16.840.1.113883.10.20.20.6 Containment Genomic Observation Reference DYNAMIC
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.305 CDA Organizer (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <organizer classCode="BATTERY" moodCode="EVN">   <templateId root="2.16.840.1.113883.10.20.20.5.1"/>  <statusCode code="completed"/>  <component>     <!-- reference to the actual finding-->     <observation classCode="OBS" moodCode="EVN">       <id root="2.16.840.1.113883.18.12.7.30.9.1.1"/>      <code/>    </observation>  </component>  <component>     <!-- reference to the actual finding-->     <observation classCode="OBS" moodCode="EVN">       <id root="2.16.840.1.113883.18.12.7.30.9.1.2"/>      <code/>    </observation>  </component></organizer>
Item DT Kard Konf Beschreibung Label hl7:organizer (Gen...zer) @classCode cs 1 … 1 R   CONF Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11527 ActClass (DYNAMIC) @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Gen...zer) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.5.1 hl7:entryRelationship 1 … * R Genomic Observation Reference Beinhaltet 2.16.840.1.113883.10.20.20.6 Genomic Observation Reference (DYNAMIC) (Gen...zer) @typeCode cs 1 … 1 F COMP

Genomic Source Class

Id	2.16.840.1.113883.10.20.20.3.2 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	GenomicSourceClass	Bezeichnung	Genomic Source Class
Beschreibung The GenomicSourceClass template represents the genomic class of the specimen being analyzed: germline for inherited genome, somatic for cancer genome (e.g. DNA from tumor cells), and prenatal for fetal genome. These options are coded in LOINC and may be bound to the value attribute of this template.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.2
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit	Assoziiert mit 2 Konzepte Id Name Datensatz genea-data​element-1.1510  Probe  GENeALYSE Datensatz genea-data​element-1.4110  Klassifikation  GENeALYSE Datensatz
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.20.20.4 Genomic Associated Observation (DYNAMIC) ref gtr-
Beispiel	Beispiel <observation classCode="OBS" moodCode="EVN">   <templateId root="2.16.840.1.113883.10.20.20.3.2"/>  <id root="2.16.840.1.113883.18.12.7.30.9.3.7"/>  <code code="48002-0" codeSystemName="LOINC" displayName="Genomic source class"/>  <value xsi:type="CD" code="LA6683-2" codeSystemName="LOINC" displayName="Germline"/>  <specimen>     <templateId root="2.16.840.1.113883.10.20.20.3.1"/>    <specimenRole>       <specimenPlayingEntity>         <code code="180796014" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Peripheral blood specimen"/>      </specimenPlayingEntity>    </specimenRole>  </specimen></observation>
Item DT Kard Konf Beschreibung Label hl7:observation GTR GenomicSourceClass (self) SHALL satisfy: If self.code.code=48002-0 (LOINC code for Genomic source class), then self.value.code SHALL be drawn from the LOINC answer list 48002-0. CONF...R‑80   genea-data​element-1.4110  Klassifikation  GENeALYSE Datensatz @classCode cs 0 … 1 F OBS @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M CONF...R‑80 @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.3.2 hl7:code CD 1 … 1 R CONF...R‑81 @code CONF 0 … 1 F 48002-0 @codeSystem 0 … 1 F 2.16.840.1.113883.6.1 (LOINC) @codeSystemName 0 … 1 F LOINC @displayName 0 … 1 F Genomic source class hl7:value CD 0 … 1 R CONF...R‑82   CONF Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.10.20.20.9.12 Genomic source class (2013‑02‑01) hl7:specimen 0 … 1 R It is important to explicitly associate the specimen information to the clinical genomic statement (or a reference the specimen structured data in a Specimen section if specified), because the specimen is not part of the header and even if specified in a Specimen section, it doesn't apply necessarily to other parts of the GTR body by the CDA context conduction rules. CONF...R‑80   genea-data​element-1.1510  Probe  GENeALYSE Datensatz   Constraint Contains exactly one [1..1] CDA Specimen

Indication Observation

Id	2.16.840.1.113883.10.20.20.3.3 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	IndicationObservation	Bezeichnung	Indication Observation
Beschreibung The IndicationObservation is associated with the genomic observation in the ClinicalGenomicStatement template and represents an indication to performing the genomic observation. It can also reside in the IndicationSection and then be referenced from a ClinicalGenomicStatement. It currently has two specializations that indicate the genetic disese or medication assessed. Note that the overall structure of CGS is depicted in chart 5 of the slide deck enclosed in the GTR package.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.3
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit	Assoziiert mit 2 Konzepte Id Name Datensatz genea-data​element-1.2010  Indikation  GENeALYSE Datensatz genea-data​element-1.2030  Indikation (mögliche) Erkrankung  GENeALYSE Datensatz
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <observation classCode="COND" moodCode="EVN">   <templateId root="2.16.840.1.113883.10.20.20.3.3.1"/>  <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>  <code code="51967-8" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Genetic disease assessed"/>  <value xsi:type="CD" code="85571008" codeSystem="2.16.840.1.113883.6.96" codeSystemName="SNOMED-CT" displayName="Sensory Hearing Loss">     <originalText>       <reference value="#a2"/>    </originalText>  </value>  <reference typeCode="XCRPT">     <externalObservation>       <id root="2.16.840.1.113883.19.1.2765"/>    </externalObservation>  </reference></observation>
Item DT Kard Konf Beschreibung Label hl7:observation (Ind...ion)   genea-data​element-1.2010  Indikation  GENeALYSE Datensatz @classCode cs 0 … 1 F OBS @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Ind...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.3.3 hl7:code 1 … 1 R (Ind...ion) hl7:value CD 0 … 1 R (Ind...ion)   genea-data​element-1.2030  Indikation (mögliche) Erkrankung  GENeALYSE Datensatz

Interpretive Phenotype

Id	2.16.840.1.113883.10.20.20.2.5 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	InterpretivePhenotype	Bezeichnung	Interpretive Phenotype
Beschreibung The InterpretivePhenotype template represents interpretations genetic testing finding (results) observations and is part of the Clinical Genomic Statement (CGS) template. It is a parent template for sub-templates that represent interpretations of specific types of genomic observations described in the various parts of the GTR. Optionally, InterpretivePhenotype can be associated with performers of the interpretations (note that these performers could be different than those performing the genetic observations itself). Note that the overall structure of CGS is depicted in chart 5 of the slide deck enclosed in the GTR package.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.2.5
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <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>
Item DT Kard Konf Beschreibung Label hl7:observation (Int...ype) @classCode cs 0 … 1 F OBS @moodCode cs 0 … 1 F DEF hl7:templateId II 1 … 1 M (Int...ype) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.2.5 hl7:code 1 … 1 R The code attribute should identify the type of interpretation, preferably drawn from internationally-recognized terminologies relevant to the type of interpretation at stake. (Int...ype) hl7:value 0 … 1 R The value attribute should represent the interpretation and be aligned with the code attribute; it should preferably be drawn from internationally-recognized terminologies relevant to the type of interpretation at stake. (Int...ype) hl7:methodCode 0 … * R The method code attribute relates to the method by whcih the interpretation of the genomic observation/finding has been performed (e.g., designation of a specific algorithm). (Int...ype) hl7:effectiveTime 0 … 1 R The effective time attribute relates to the time at whcih the interpretation of the genomic observation/finding has been performed. (Int...ype) hl7:performer 0 … * R Use this performer association if the performer(s) of the interpretation are different than the performer(s) indicated at a higher level (i.e., at the clinical genomic statement in a specific test details section or at the GTR header level). (Int...ype)   Constraint Contains exactly one [1..1] CDA Performer2

Medication Assessed Indication Observation

Id	2.16.840.1.113883.10.20.20.3.3.2 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	MedicationAssessedIndicationObservation	Bezeichnung	Medication Assessed Indication Observation
Beschreibung	The MedicationAssessedIndicationObservation represents the medication being assessed. The RxNorm medication terminology is recommended for representing the medication.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.3.2
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr- Spezialisierung: Template 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC) ref gtr-
Beispiel	Beispiel <observation classCode="COND" moodCode="EVN">   <templateId root="2.16.840.1.113883.10.20.20.3.3.2"/>  <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>  <code code="51963-7" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Medication Assessed"/>  <value xsi:type="CD" code="114194" codeSystemName="RxNorm" displayName="Warfarin">     <originalText>       <reference value="#a2"/>    </originalText>  </value></observation>
Item DT Kard Konf Beschreibung Label hl7:observation (Med...ion) @classCode cs 0 … 1 F COND @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Med...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.3.3.2 hl7:code CD 1 … 1 R (Med...ion) @code CONF 0 … 1 F 51963-7 @codeSystem 0 … 1 F 2.16.840.1.113883.6.1 (LOINC) @codeSystemName 0 … 1 F LOINC @displayName 0 … 1 F Medication Assessed hl7:value CD 1 … 1 R (Med...ion)

Medikation Beurteilung Indikation

Id	2.16.840.1.113883.2.6.60.13.10.7	Gültigkeit	2018‑09‑24 10:34:15
Status	Entwurf	Versions-Label
Name	MedikationBeurteilungIndikation	Bezeichnung	Medikation Beurteilung Indikation
Beschreibung	Angabe der Medikation oder Wirkstoffgruppe, für welche das mögliche Vorliegen einer Indikation untersucht wird.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.7
Klassifikation	CDA Entry 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-1.5150  Therapeutikum/Wirkstoff/Wirkstoffklasse  GENeALYSE Datensatz
Beziehung	Adaptation: Template 2.16.840.1.113883.10.20.20.3.3.2 Medication Assessed Indication Observation (2013‑02‑01) ref gtr- Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr- Spezialisierung: Template 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC) ref gtr-
Beispiel	Beispiel <observation classCode="COND" moodCode="EVN">   <templateId root="2.16.840.1.113883.2.6.60.13.10.7"/>  <id root="2.16.840.1.113883.18.12.7.30.9.2.1"/>  <code code="51963-7" codeSystem="2.16.840.1.113883.6.1" codeSystemName="LOINC" displayName="Medication Assessed"/>  <value xsi:type="CD" code="L01XE02" codeSystem="2.16.840.1.113883.6.73" codeSystemName="WHO ATC" displayName="Gefitinib"/></observation>
Item DT Kard Konf Beschreibung Label hl7:observation (Med...ion)   genea-data​element-1.5150  Therapeutikum/Wirkstoff/Wirkstoffklasse  GENeALYSE Datensatz @classCode cs 0 … 1 F COND @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Med...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.3.3.2 hl7:templateId II 1 … 1 R (Med...ion) @root uid 1 … 1 F 2.16.840.1.113883.2.6.60.13.10.7 hl7:code CD 1 … 1 R (Med...ion) @code CONF 0 … 1 F 51963-7 @codeSystem 0 … 1 F 2.16.840.1.113883.6.1 (LOINC) @codeSystemName 0 … 1 F LOINC @displayName 0 … 1 F Medication Assessed hl7:value CD 1 … 1 R Angabe des WHO ATC Codes (Med...ion)

Test Performed Observation

Id	2.16.840.1.113883.10.20.20.3.4 ref gtr-	Gültigkeit	2013‑02‑01
Status	Entwurf	Versions-Label
Name	TestPerformedObservation	Bezeichnung	Test Performed Observation
Beschreibung	The TestPerformedObservation describes one of the tests performed whose results are reported in the GTR. It can be used by the TestsPerformedSection to describe each test in a structured format.
Kontext	Elternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.4
Klassifikation	CDA Entry Level Template
Offen/Geschlossen	Offen (auch andere als die definierten Elemente sind erlaubt)
Beziehung	Spezialisierung: Template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07) ref ad1bbr-
Beispiel	Beispiel <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>
Item DT Kard Konf Beschreibung Label hl7:observation (Tes...ion) @classCode cs 0 … 1 F OBS @moodCode cs 0 … 1 F EVN hl7:templateId II 1 … 1 M (Tes...ion) @root uid 1 … 1 F 2.16.840.1.113883.10.20.20.3.4 hl7:code 1 … 1 R The code attribute should identify the type (or class) of genetic testing at stake, preferably drawn from a published classification / terminology, e.g., "Hereditary Hearing Loss and Deafness" where the value attribute can hold a code representing the test titled "Connexin 26 Full Gene Test", preferably drawn from a published catalog. CONF...R‑87 hl7:value CD 0 … 1 R The value attribute should be aligned with the semantics of the code assigned to the code attribute, e.g., if code = "Hereditary Hearing Loss and Deafness" then the value attribute can hold a code representing the test titled "Connexin 26 Full Gene Test", preferably drawn from a published catalog. CONF...R‑88 hl7:methodCode 0 … 1 R The methodCode can provide more information on the test identified through the value and optionally the code attributes of this observation. The code assigned to methodCode should preferably be drawn from a standard terminology for genetic testing methods. CONF...R‑89 hl7:performer 0 … * R Use this performer association if the performer(s) of this performed test are different than the performer(s) indicated at a higher level (i.e., at the GTR header level). (Tes...ion)   Constraint Contains exactly one [1..1] CDA Performer2

Templates aus Repositories (nicht zur Abstimmung stehend)

Die folgenden Templates stehen im Rahmen dieses Leitfadens nicht zur Abstimmung, da sie aus anderen Repositories entlehnt wurden.

• 1.2.276.0.76.10.2001 CDA recordTarget
• 1.2.276.0.76.10.2004 CDA custodian
• 1.2.276.0.76.10.2005 CDA informationRecipient
• 1.2.276.0.76.10.2007 CDA author Person
• 1.2.276.0.76.10.2011 CDA participant Notfallkontakt
• 1.2.276.0.76.10.2012 CDA participant Hausarzt
• 1.2.276.0.76.10.2017 CDA dataEnterer
• 1.2.276.0.76.10.2018 CDA Informant
• 1.2.276.0.76.10.2019 CDA authenticator
• 1.2.276.0.76.10.2020 CDA legalAuthenticator
• 1.2.276.0.76.10.2021 CDA participant Angehörige
• 1.2.276.0.76.10.2022 CDA participant Kostentraeger
• 1.2.276.0.76.10.2023 CDA participant Einweiser
• 1.2.276.0.76.10.2024 CDA participant Weitere Beteiligte
• 1.2.276.0.76.10.2025 CDA participant Ansprechpartner
• 1.2.276.0.76.10.2026 CDA participant Betreuungsorganisation
• 1.2.276.0.76.10.2027 CDA encompassingEncounter Patientenkontakt
• 1.2.276.0.76.10.90010 CDA Person Elements
• 1.2.276.0.76.10.90011 CDA Organization Elements
• 1.2.276.0.76.10.90012 CDA Assigned Entity Elements
• 1.2.276.0.76.10.90020 RelatedEntity (Body)
• 1.2.276.0.76.10.90021 Encounter Location
• 1.2.276.0.76.10.90030 Personenname

Terminologien

Value Sets

• 2.16.840.1.113883.10.20.20.9.1 Allelic State
• 2.16.840.1.113883.10.20.20.9.2 Amino acid change type
• 2.16.840.1.113883.10.20.20.9.4 DNA sequence variation change type
• 2.16.840.1.113883.10.20.20.9.12 Genomic source class

Literatur und Referenzen

Weiterführende Literatur

Folgende Literatur ist zum Verständnis des Leitfadens hilfreich:

• "The CDA-Book", Keith Boone, Springer
• HL7 Datentypleitfaden

Glossar und Abkürzungsverzeichnis

Für ein Glossar der Begriffe wird auf die "Enzyklopädie des deutschen Gesundheitswesens" bei Interoperabilitätsforum verwiesen: http://wiki.hl7.de/index.php?title=Kategorie:Enzyklopädie

Das Interoperabilitätsforum führt auch ein Abkürzungsverzeichnis: http://wiki.hl7.de/index.php?title=Kategorie:Abkürzungen

Abbildungen

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Tabellen

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