Biomarker- und Genomanalysebefund

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Kontributoren 
Logo-hsnr.png Hochschule Niederrhein Krefeld
Logo-hl7.jpg HL7 Deutschland e. V. Köln
Logo-Hcs.jpg Heitmann Consulting and Services GmbH, Gefyra GmbH Hürth

Inhaltsverzeichnis

Dokumenteninformationen

Dokumentenhistorie

Genbefund
Biomarker- und Genomanalysebefund auf Basis der HL7 Clinical Document Architecture Release 2
Status Typ Version Datum PDF Wiki ART-DECOR
Abstimmung
Si-draft.svgEntwurf STU 0.10 17.04.2018 - Link.png Link.png

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[1] und der Technischen Komitees von HL7 Deutschland e. V. [2].

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.[3]

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.[4]

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.[5]

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.[6]

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[7] 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[8], [9].

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[10].

CDA Document Level Templates

CDA Dokument für den Biomarker- und Genomanalysebefund

  1. Document
     Genetischer Befundbericht (2.16.840.1.113883.2.6.60.13.10.1)
    1. Header
       CDA recordTarget (1.2.276.0.76.10.2001)
      1. *
         Personenname (1.2.276.0.76.10.90030)
    2. Header
       CDA author Person (1.2.276.0.76.10.2007)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    3. Header
       CDA dataEnterer (1.2.276.0.76.10.2017)
      1. Header
         CDA Assigned Entity Elements (1.2.276.0.76.10.90012)
        1. Header
           CDA Person Elements (1.2.276.0.76.10.90010)
        2. Header
           CDA Organization Elements (1.2.276.0.76.10.90011)
    4. *
       CDA Informant (1.2.276.0.76.10.2018)
      1. Header
         CDA Assigned Entity Elements (1.2.276.0.76.10.90012)
        1. Header
           CDA Person Elements (1.2.276.0.76.10.90010)
        2. Header
           CDA Organization Elements (1.2.276.0.76.10.90011)
      2. Entry
         RelatedEntity (Body) (1.2.276.0.76.10.90020)
        1. Header
           CDA Person Elements (1.2.276.0.76.10.90010)
    5. Header
       CDA custodian (1.2.276.0.76.10.2004)
    6. Header
       CDA informationRecipient (1.2.276.0.76.10.2005)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    7. Header
       CDA legalAuthenticator (1.2.276.0.76.10.2020)
      1. Header
         CDA Assigned Entity Elements (1.2.276.0.76.10.90012)
        1. Header
           CDA Person Elements (1.2.276.0.76.10.90010)
        2. Header
           CDA Organization Elements (1.2.276.0.76.10.90011)
    8. Header
       CDA authenticator (1.2.276.0.76.10.2019)
      1. Header
         CDA Assigned Entity Elements (1.2.276.0.76.10.90012)
        1. Header
           CDA Person Elements (1.2.276.0.76.10.90010)
        2. Header
           CDA Organization Elements (1.2.276.0.76.10.90011)
    9. Header
       CDA participant Einweiser (1.2.276.0.76.10.2023)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    10. Header
       CDA participant Hausarzt (1.2.276.0.76.10.2012)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    11. Header
       CDA participant Notfallkontakt (1.2.276.0.76.10.2011)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    12. Header
       CDA participant Angehörige (1.2.276.0.76.10.2021)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    13. Header
       CDA participant Kostentraeger (1.2.276.0.76.10.2022)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    14. Header
       CDA participant Ansprechpartner (1.2.276.0.76.10.2025)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    15. Header
       CDA participant Betreuungsorganisation (1.2.276.0.76.10.2026)
      1. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    16. Header
       CDA participant Weitere Beteiligte (1.2.276.0.76.10.2024)
      1. Header
         CDA Person Elements (1.2.276.0.76.10.90010)
      2. Header
         CDA Organization Elements (1.2.276.0.76.10.90011)
    17. Header
       CDA encompassingEncounter Patientenkontakt (1.2.276.0.76.10.2027)
      1. Header
         CDA Assigned Entity Elements (1.2.276.0.76.10.90012)
        1. Header
           CDA Person Elements (1.2.276.0.76.10.90010)
        2. Header
           CDA Organization Elements (1.2.276.0.76.10.90011)
      2. Header
         Encounter Location (1.2.276.0.76.10.90021)
    18. Header
       Auftragsidentifikation (1.2.276.0.76.10.2015)
    19. Header
       Ordering Provider (1.3.6.1.4.1.19376.1.3.3.1.6)
    20. Section
       Zusammenfassung Section (2.16.840.1.113883.2.6.60.13.10.13)
      1. Section
         Indikation Section (2.16.840.1.113883.2.6.60.13.10.9)
        1. Entry
           Indication Observation (2.16.840.1.113883.10.20.20.3.3)
        2. Entry
           Genetic Disease Assessed Indication Observation (2.16.840.1.113883.10.20.20.3.3.1)
        3. Entry
           Medikation Beurteilung Indikation (2.16.840.1.113883.2.6.60.13.10.7)
      2. Section
         Zusammenfassung Durchgeführte Untersuchungen Section (2.16.840.1.113883.2.6.60.13.10.8)
        1. Entry
           Test Performed Observation (2.16.840.1.113883.10.20.20.3.4)
      3. Section
         Zusammenfassende Interpretation Section (2.16.840.1.113883.2.6.60.13.10.10)
        1. Entry
           Clinical Genomic Statement Overall Interpretation (2.16.840.1.113883.10.20.20.2.4)
          1. Entry
             Genomic Observations Organizer (2.16.840.1.113883.10.20.20.5.1)
            1. Entry
               Genomic Observation Reference (2.16.840.1.113883.10.20.20.6)
      4. Section
         Empfehlungen Section (2.16.840.1.113883.2.6.60.13.10.14)
      5. Section
         Untersuchungsmaterial Section (2.16.840.1.113883.2.6.60.13.10.17)
        1. Entry
           Genomic Source Class (2.16.840.1.113883.10.20.20.3.2)
    21. Section
       Testdetails Section (2.16.840.1.113883.2.6.60.13.10.18)
      1. Entry
         Clinical Genomic Statement (2.16.840.1.113883.10.20.20.2)
        1. Entry
           Indication Observation (2.16.840.1.113883.10.20.20.3.3)
        2. Entry
           Interpretive Phenotype (2.16.840.1.113883.10.20.20.2.5)
        3. Entry
           Genomic Source Class (2.16.840.1.113883.10.20.20.3.2)
        4. Entry
           Genomic Associated Observation (2.16.840.1.113883.10.20.20.4)
      2. Section
         Indications Section (2.16.840.1.113883.10.20.20.1.11)
        1. Entry
           Indication Observation (2.16.840.1.113883.10.20.20.3.3)
        2. Entry
           Genetic Disease Assessed Indication Observation (2.16.840.1.113883.10.20.20.3.3.1)
        3. Entry
           Medication Assessed Indication Observation (2.16.840.1.113883.10.20.20.3.3.2)
      3. Section
         Test Performed Section (2.16.840.1.113883.10.20.20.1.10)
        1. Entry
           Test Performed Observation (2.16.840.1.113883.10.20.20.3.4)
      4. Section
         Findings Section (2.16.840.1.113883.10.20.20.1.12)
      5. Section
         Interpretation Section (2.16.840.1.113883.10.20.20.1.13)
        1. Entry
           Interpretive Phenotype (2.16.840.1.113883.10.20.20.2.5)
      6. Section
         Test Information Section (2.16.840.1.113883.10.20.20.1.9)
        1. Section
           Background Section (2.16.840.1.113883.10.20.20.1.9.1)
        2. Section
           Methodology Section (2.16.840.1.113883.10.20.20.1.9.2)
        3. Section
           References Section (2.16.840.1.113883.10.20.20.1.9.3)
      7. Section
         Specimen Section (2.16.840.1.113883.10.20.20.1.7)
        1. Entry
           Genomic Source Class (2.16.840.1.113883.10.20.20.3.2)
    22. Section
       Testinformationen Section (2.16.840.1.113883.2.6.60.13.10.19)
      1. Section
         Background Section (2.16.840.1.113883.10.20.20.1.9.1)
      2. Section
         Methodology Section (2.16.840.1.113883.10.20.20.1.9.2)
      3. Section
         References Section (2.16.840.1.113883.10.20.20.1.9.3)
Id2.16.840.1.113883.2.6.60.13.10.1Gültigkeit2018‑08‑09 17:52:59
StatusKyellow.png EntwurfVersions-Label
NameGenetischerBefundberichtBezeichnungGenetischer Befundbericht
Beschreibung
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.1
KlassifikationCDA Document Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 1 Konzept
IdNameDatensatz
genea-data​element-1.6120Kyellow.png Zeitstempel Kyellow.png GENeALYSE Datensatz
Benutzt
Benutzt 22 Templates
Benutzt als NameVersion
1.2.276.0.76.10.2001InklusionKgreen.png CDA recordTargetDYNAMIC
1.2.276.0.76.10.2007InklusionKgreen.png CDA author PersonDYNAMIC
1.2.276.0.76.10.2017InklusionKyellow.png CDA dataEntererDYNAMIC
1.2.276.0.76.10.2018InklusionKyellow.png CDA InformantDYNAMIC
1.2.276.0.76.10.2004InklusionKgreen.png CDA custodianDYNAMIC
1.2.276.0.76.10.2005InklusionKgreen.png CDA informationRecipientDYNAMIC
1.2.276.0.76.10.2020InklusionKyellow.png CDA legalAuthenticatorDYNAMIC
1.2.276.0.76.10.2019InklusionKgreen.png CDA authenticatorDYNAMIC
1.2.276.0.76.10.2023InklusionKyellow.png CDA participant EinweiserDYNAMIC
1.2.276.0.76.10.2012InklusionKyellow.png CDA participant HausarztDYNAMIC
1.2.276.0.76.10.2011InklusionKyellow.png CDA participant NotfallkontaktDYNAMIC
1.2.276.0.76.10.2021InklusionKyellow.png CDA participant AngehörigeDYNAMIC
1.2.276.0.76.10.2022InklusionKgreen.png CDA participant KostentraegerDYNAMIC
1.2.276.0.76.10.2025InklusionKyellow.png CDA participant AnsprechpartnerDYNAMIC
1.2.276.0.76.10.2026InklusionKyellow.png CDA participant BetreuungsorganisationDYNAMIC
1.2.276.0.76.10.2024InklusionKgreen.png CDA participant Weitere BeteiligteDYNAMIC
1.2.276.0.76.10.2027InklusionKorange.png CDA encompassingEncounter Patientenkontakt (1.1)DYNAMIC
1.2.276.0.76.10.2015InklusionKyellow.png AuftragsidentifikationDYNAMIC
1.3.6.1.4.1.19376.1.3.3.1.6InklusionKgreen.png Ordering Provider (2017)DYNAMIC
2.16.840.1.113883.2.6.60.13.10.13ContainmentKyellow.png Zusammenfassung SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.18ContainmentKyellow.png Testdetails SectionDYNAMIC
2.16.840.1.113883.2.6.60.13.10.19ContainmentKyellow.png Testinformationen SectionDYNAMIC
BeziehungAdaptation: 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 -->
  <hl7: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>
  </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a2">Indication: Profound sensorineural hearing loss</hl7:content>                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a1">
GJB2 Full Gene Test
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content ID="a5">
GJB6-D13S1830 deletion
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content ID="a3">
Mitochondrial Hearing Loss Mutation Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content styleCode="Bold">Inconclusive.</hl7:content>                  </hl7:item>
                  <hl7:item>
                    <hl7: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).
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss mutations: Targeted bidirectional
sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the
presence of these mutations.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>Peripheral Blood</hl7:item>                  <hl7:item>Genomic source class: Germline</hl7:item>                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB2 Full Gene Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content>
INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>Mutations interpretation</hl7:content>                    <hl7:list>
                      <hl7:item>
                        <hl7:content>V37I - Pathogenic</hl7:content>                      </hl7:item>
                      <hl7:item>
                        <hl7:content>V27I - Benign</hl7:content>                      </hl7:item>
                    </hl7:list>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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).
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss Genes Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA sequencing did not detect the presence of any mutations in
the MTTS1 and MTRNR1 genes.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content>
Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness
Homepage. http://www.crg.es/deafness.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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 -->
  <hl7: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>
  </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a2">Indication: Profound sensorineural hearing loss</hl7:content>                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content ID="a1">
GJB2 Full Gene Test
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content ID="a5">
GJB6-D13S1830 deletion
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content ID="a3">
Mitochondrial Hearing Loss Mutation Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content styleCode="Bold">Inconclusive.</hl7:content>                  </hl7:item>
                  <hl7:item>
                    <hl7: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).
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss mutations: Targeted bidirectional
sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the
presence of these mutations.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>Peripheral Blood</hl7:item>                  <hl7:item>Genomic source class: Germline</hl7:item>                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB2 Full Gene Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA MUTATIONS: Heterozygous 109G>A (V37I), Exon 2, GJB2
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content>
INCIDENTAL VARIANTS: Heterozygous 79G>A (V27I), Exon 2, GJB2
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>Mutations interpretation</hl7:content>                    <hl7:list>
                      <hl7:item>
                        <hl7:content>V37I - Pathogenic</hl7:content>                      </hl7:item>
                      <hl7:item>
                        <hl7:content>V27I - Benign</hl7:content>                      </hl7:item>
                    </hl7:list>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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).
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
GJB6-D13S1830 Deletion Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Mitochondrial Hearing Loss Genes Test
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
Negative
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7:content>
DNA sequencing did not detect the presence of any mutations in
the MTTS1 and MTRNR1 genes.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7: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>
                <hl7:list>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7:content>
Calvo J, Rabionet R, Gasparini P, Estivill X. Connexins and Deafness
Homepage. http://www.crg.es/deafness.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                  <hl7:item>
                    <hl7: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.
</hl7:content>
                  </hl7:item>
                </hl7:list>
              </hl7:text>
            </hl7:section>
          </hl7:component>
        </hl7:section>
      </hl7:component>
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  </hl7:component>
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 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"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:birthTime
TS.​DATE.​MIN1 … 1RGeburtsdatum des Patienten(Gen...cht)
 
Target.png
genea-data​element-1.1090Kyellow.png Geburtsdatum Kyellow.png GENeALYSE Datensatz
 Beispiel<birthTime value="19491224"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:marital​Status​Code
CE0 … 1Familienstand 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"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:religious​Affiliation​Code
CE0 … 1Religionszugehörigkeit 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"/>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:raceCode
NPdarf nicht verwendet werden(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:ethnic​Group​Code
NPdarf nicht verwendet werden(Gen...cht)
 
Target.png
genea-data​element-1.1080Kyellow.png Ethnie Kyellow.png GENeALYSE Datensatz
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:guardian
0 … *Vormund/Sachwalter des Patienten(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:guardian​Person
  • hl7:guardian​Organization
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:guardian​Person
(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:guardian​Organization
(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:birthplace
0 … 1Geburtsort des Patienten(Gen...cht)
 Beispiel<birthplace>
  <place>
    <addr>Hamburg</addr>  </place>
</birthplace>
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:place
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:language​Communication
0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:language​Code
CS0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:modeCode
CE0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:proficiency​Level​Code
CE0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:preference​Ind
BL0 … 1(Gen...cht)
Eingefügt1 … 1M von 1.2.276.0.76.10.2007 CDA author Person (DYNAMIC)
Treetree.pnghl7:author
1 … 1M(Gen...cht)
 
Target.png
genea-data​element-1.6140Kyellow.png Labor / Institution/ Ansprechpartner Kyellow.png GENeALYSE Datensatz
Treeblank.pngTreetree.png@typeCode
0 … 1FAUT
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
 Beispiel<author typeCode="AUT" contextControlCode="OP">
  <time value="201306101654"/>  <assignedAuthor classCode="ASSIGNED">
    <!-- ... -->
  </assignedAuthor>
</author>
Treeblank.pngTreetree.pnghl7:functionCode
CE0 … 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)
Treeblank.pngTreetree.pnghl7:time
TS.​DATE.​MIN1 … 1(Gen...cht)
Treeblank.pngTreetree.pnghl7:assignedAuthor
1 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FASSIGNED
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 1Fachgebiet/Spezialität des Gesundheitsdienstleister, z. B. Ärztin/Arzt für Allgemeinmedizin, Approbierte Ärztin/Approbierter Arzt, Fachärztin/Facharzt für Anästhesiologie und Intensivmedizin(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
1 … 1M(Gen...cht)
 Beispiel<representedOrganization classCode="ORG" determinerCode="INSTANCE">
  <name>
    <!-- ... -->
  </name>
</representedOrganization>
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2017 CDA dataEnterer (DYNAMIC)
Treetree.pnghl7:dataEnterer
0 … 1(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FENT
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
Treeblank.pngTreetree.pnghl7:time
TS0 … 1gibt den Zeitpunkt an, an dem der Datentypist seinen Beitrag am Dokument beendet hat(Gen...cht)
Treeblank.pngTreetree.pnghl7:assignedEntity
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2018 CDA Informant (DYNAMIC)
Treetree.pnghl7:informant
0 … *(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FINF
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:assignedEntity[hl7:assigned​Person]
  • hl7:relatedEntity
Treeblank.pngTreeblank.pngTreetree.pnghl7:assignedEntity
0 … 1Gesundheitsdienstleister(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:relatedEntity
0 … 1Verwandte, Bekannte, Sozialhelfer, Betreuer/Erzieher(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90020 RelatedEntity (Body) (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
cs1 … 1R
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19316 RoleClassMutualRelationship (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:effectiveTime
IVL_TS0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:relatedPerson
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Eingefügt1 … 1M von 1.2.276.0.76.10.2004 CDA custodian (DYNAMIC)
Treetree.pnghl7:custodian
1 … 1M(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FCST
 Beispiel<custodian typeCode="CST">
  <assignedCustodian classCode="ASSIGNED">
    <representedCustodianOrganization classCode="ORG" determinerCode="INSTANCE">
      <!-- ... -->
    </representedCustodianOrganization>
  </assignedCustodian>
</custodian>
Treeblank.pngTreetree.pnghl7:assignedCustodian
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FASSIGNED
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Custodian​Organization
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2005 CDA informationRecipient (DYNAMIC)
Treetree.pnghl7:information​Recipient
0 … *(Gen...cht)
Treeblank.pngTreetree.png@typeCode
cs0 … 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
Treeblank.pngTreetree.pnghl7:intended​Recipient
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Auswahl1 … *
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
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:information​Recipient
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:received​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2020 CDA legalAuthenticator (DYNAMIC)
Treetree.pnghl7:legalAuthenticator
0 … 1(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FLA
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
Treeblank.pngTreetree.pnghl7:time
TS1 … 1R(Gen...cht)
Treeblank.pngTreetree.pnghl7:signatureCode
CS1 … 1R(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
Treeblank.pngTreetree.pnghl7:assignedEntity
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2019 CDA authenticator (DYNAMIC)
Treetree.pnghl7:authenticator
0 … *(Gen...cht)
Treeblank.pngTreetree.png@typeCode
cs0 … 1FAUTHEN
Treeblank.pngTreetree.pnghl7:time
TS1 … 1R(Gen...cht)
Treeblank.pngTreetree.pnghl7:signatureCode
CS1 … 1R(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.10282 ParticipationSignature (DYNAMIC)
Treeblank.pngTreetree.pnghl7:assignedEntity
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2023 CDA participant Einweiser (DYNAMIC)
Einweisender/Zuweisender Arzt
Treetree.pnghl7:participant
0 … 1(Gen...cht)
wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2023']]
Treeblank.pngTreetree.png@typeCode
1 … 1FREF
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
1 … 1F1.2.276.0.76.10.2023
Treeblank.pngTreetree.pnghl7:time
TS.​DATE.​MIN0 … 1REinweisungsdatum und -zeit(Gen...cht)
 Beispiel<time value="201408091624"/>
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
1 … 1FPROV
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1R(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2012 CDA participant Hausarzt (DYNAMIC)
Hausarzt
Treetree.pnghl7:participant
0 … 1(Gen...cht)
wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2012']]
Treeblank.pngTreetree.png@typeCode
cs1 … 1FIND
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
uid1 … 1F1.2.276.0.76.10.2012
Treeblank.pngTreetree.pnghl7:functionCode
CE1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@code
CONF1 … 1FPCP
Treeblank.pngTreeblank.pngTreetree.png@codeSystem
1 … 1F2.16.840.1.113883.5.88 (Participation Function)
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
cs1 … 1FPROV
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *An dieser Stelle kann die Arztnummer (LANR) unter Angabe der dazugehörigen OID übermittelt werden.
(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2011 CDA participant Notfallkontakt (DYNAMIC)
Notfall-Kontakt / Auskunftsberechtigte Person
Treetree.pnghl7:participant
0 … *(Gen...cht)
wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2011']]
Treeblank.pngTreetree.png@typeCode
1 … 1FIND
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
1 … 1F1.2.276.0.76.10.2011
Treeblank.pngTreetree.pnghl7:time
IVL_TS0 … 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>
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
1 … 1FECON
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 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)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2021 CDA participant Angehörige (DYNAMIC)
Angehörige
Treetree.pnghl7:participant
0 … *(Gen...cht)
wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2021']]
Treeblank.pngTreetree.png@typeCode
1 … 1FIND
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
1 … 1F1.2.276.0.76.10.2021
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
1 … 1FPRS
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 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)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2022 CDA participant Kostentraeger (DYNAMIC)
Kostenträger/Versicherung
Treetree.pnghl7:participant
0 … *(Gen...cht)
wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2022']]
Treeblank.pngTreetree.png@typeCode
cs1 … 1FHLD
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
uid1 … 1F1.2.276.0.76.10.2022
Treeblank.pngTreetree.pnghl7:time
IVL_TS0 … 1Hier 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>
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
cs1 … 1FPOLHOLD
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *Versichertennummern(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 1Versichertenstatus
(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>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:translation
CV0 … 1Codierungen 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:translation
CV0 … *Weitere Codierungen des Versichertenstatus(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
 Schematron assertrole error 
 testnot(hl7:code[@code='FAMDEP']) or hl7:associated​Person 
 MeldungWenn das Versicherungsverhältnis "familienversichert" ist, dann muss eine associatedPerson angegeben sein 
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
1 … 1In 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)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2025 CDA participant Ansprechpartner (DYNAMIC)
Fachlicher Ansprechpartner
Treetree.pnghl7:participant
0 … *(Gen...cht)
wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2025']]
Treeblank.pngTreetree.png@typeCode
1 … 1FCALLBCK
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
1 … 1F1.2.276.0.76.10.2025
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
1 … 1FPROV
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2026 CDA participant Betreuungsorganisation (DYNAMIC)
Betreuende Organisation
Treetree.pnghl7:participant
0 … *(Gen...cht)
wo [hl7:templateId ​[@root​=​'1.2.276.0.76.10.2026']]
Treeblank.pngTreetree.png@typeCode
1 … 1FIND
Treeblank.pngTreetree.pnghl7:templateId
II1 … *M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@root
1 … 1F1.2.276.0.76.10.2026
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
1 … 1FCAREGIVER
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … * von 1.2.276.0.76.10.2024 CDA participant Weitere Beteiligte (DYNAMIC)
Weitere Beteiligte
Treetree.pnghl7:participant
0 … *(Gen...cht)
Treeblank.pngTreetree.png@typeCode
cs1 … 1RTypischerweise 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)
Treeblank.pngTreetree.png@context​Control​Code
1 … 1FOP
Treeblank.pngTreetree.pnghl7:functionCode
CE0 … 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)
Treeblank.pngTreetree.pnghl7:time
IVL_TS0 … 1(Gen...cht)
Treeblank.pngTreetree.pnghl7:associated​Entity
1 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
cs1 … 1R
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.19313 RoleClassAssociative (DYNAMIC)
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@codeSystem
CONF0 … 1F2.16.840.1.113883.5.111 (RoleCode)
Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:associated​Person
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:scoping​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
ON1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1(Gen...cht)
Eingefügt0 … 1 von 1.2.276.0.76.10.2027 CDA encompassingEncounter Patientenkontakt (DYNAMIC)
Patientenkontakt (Aufenthalt)
Treetree.pnghl7:componentOf
0 … 1(Gen...cht)
Treeblank.pngTreetree.png@typeCode
cs0 … 1FCOMP
Treeblank.pngTreetree.pnghl7:encompassing​Encounter
1 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
cs0 … 1FENC
Treeblank.pngTreeblank.pngTreetree.png@moodCode
cs0 … 1FEVN
Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II0 … 1Identifikationselement zur Aufnahme der Aufenthalts-Identifikation
(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.pnghl7:code
CE1 … 1M(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"/>
Auswahl1 … 1Elemente in der Auswahl:
  • hl7:effectiveTime[hl7:high]
  • hl7:effectiveTime[@value]
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:effectiveTime
IVL_TS … 1RZeitraum(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>
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:effectiveTime
TS … 1RBestimmter Tag(Gen...cht)
wo [@value]
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@value
1 … 1R
 Beispiel
Am 7. Juni 2011 (ambulanter Besuch ohne genauere Zeitangaben des Tages)
<effectiveTime value="20110607"/>
Treeblank.pngTreeblank.pngTreetree.pnghl7:responsible​Party
0 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:assignedEntity
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90012 CDA Assigned Entity Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … 1R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *R(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:assigned​Person
1 … 1M(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90010 CDA Person Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPSN
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@determiner​Code
0 … 1FINSTANCE
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1M(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:represented​Organization
0 … 1(Gen...cht)
Eingefügt von 1.2.276.0.76.10.90011 CDA Organization Elements (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FORG
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Target.png
genea-data​element-1.2130Kyellow.png Anforderung durch Kyellow.png GENeALYSE Datensatz
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1 … 1(Gen...cht)
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AD1 … *REN-US.png The address of this person (referral ordering physician) SHALL be present.(Gen...cht)
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TEL1 … *REN-US.png The telecom of this person (referral ordering physician) SHALL be present.(Gen...cht)
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 MeldungThe <name> sub-element SHALL be present when <assignedPerson> present. 
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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.
Treeblank.pngTreeblank.pngTreetree.pnghl7:section
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1 … 1RBeinhaltet 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

Id2.16.840.1.113883.10.20.20.1.9.1
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameBackgroundSectionBezeichnungBackground Section
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9.1
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Bac...ion)
Treetree.pnghl7:templateId
II1 … 1M(Bac...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.9.1
Treetree.pnghl7:code
0 … 1R(Bac...ion)
 ConstraintEN-US.png 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".
Treetree.pnghl7:title
1 … 1R(Bac...ion)
 ConstraintEN-US.png Title SHALL contain text that implies "Background information supporting the general description of the performed genetic test(s)"

Empfehlungen Section

Id2.16.840.1.113883.2.6.60.13.10.14Gültigkeit2018‑10‑25 12:13:13
StatusKyellow.png EntwurfVersions-Label
NameEmpfehlungenSectionBezeichnungEmpfehlungen Section
Beschreibung
Die Bemerkungen-Section enthält Anmerkungen und Empfehlungen wie beispielsweise weitere Schritte, zusätzliche Tests und Untersuchungen, Verweis auf Spezialisten etc.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.14
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungAdaptation: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Emp...ion)
Treetree.pnghl7:templateId
II1 … 1M(Emp...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.14
Treetree.pnghl7:code
0 … 1RCONF...R‑85
 ConstraintEN-US.png
Gtr Recommendations Section MAY contain a code that represents recommendations followoing the testing
results and interpretations.
Treetree.pnghl7:title
ST1 … 1R(Emp...ion)
 ConstraintEN-US.png
Title SHALL contain text that implies "Recommendations following results of the genetic testing and
interpretations"
 CONF
Elementinhalt muss "Bemerkungen" sein

Findings Section

Id2.16.840.1.113883.10.20.20.1.12
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameFindingsSectionBezeichnungFindings Section
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.12
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Fin...ion)
Treetree.pnghl7:templateId
II1 … 1M(Fin...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.12
Treetree.pnghl7:code
0 … 1R(Fin...ion)
 ConstraintEN-US.png Gtr Findings Section MAY contain a code that represents findings/results of the testing, e.g., SNOMED-CT code=2643621015, "Results section".
Treetree.pnghl7:title
1 … 1R(Fin...ion)
 ConstraintEN-US.png Title SHALL contain text that implies "Findings/results of the performed genetic tests".

Indications Section

Id2.16.840.1.113883.10.20.20.1.11
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameIndicationsSectionBezeichnungIndications Section
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.11
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 3 Templates
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.3.3ContainmentKyellow.png Indication ObservationDYNAMIC
2.16.840.1.113883.10.20.20.3.3.1ContainmentKyellow.png Genetic Disease Assessed Indication ObservationDYNAMIC
2.16.840.1.113883.10.20.20.3.3.2ContainmentKyellow.png Medication Assessed Indication ObservationDYNAMIC
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Ind...ion)
 ConstraintEN-US.png 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.
Treetree.pnghl7:templateId
II1 … 1M(Ind...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.11
Treetree.pnghl7:code
0 … 1RCONF...R‑10
 ConstraintEN-US.png Gtr IndicationsSection MAY contain a code that represents indications of performing the testing.
Treetree.pnghl7:title
1 … 1R(Ind...ion)
 ConstraintEN-US.png Title SHALL contain text that implies "Indications of performing genetic tests"
Treetree.pnghl7:entry
0 … *REN-US.png Indication Observation
Beinhaltet 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC)
(Ind...ion)
Treetree.pnghl7:entry
0 … *REN-US.png 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)
Treetree.pnghl7:entry
0 … *REN-US.png 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

Id2.16.840.1.113883.2.6.60.13.10.9Gültigkeit2018‑09‑24 11:31:00
StatusKyellow.png EntwurfVersions-Label
NameIndikationSectionBezeichnungIndikation Section
Beschreibung
Die Indikation Section beinhaltet Angaben zur Indikation für eine genetische Untersuchung.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.9
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 1 Konzept
IdNameDatensatz
genea-data​element-1.2000Kyellow.png Indikation / Anforderung Kyellow.png GENeALYSE Datensatz
Benutzt
Benutzt 3 Templates
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.3.3ContainmentKyellow.png Indication ObservationDYNAMIC
2.16.840.1.113883.10.20.20.3.3.1ContainmentKyellow.png Genetic Disease Assessed Indication ObservationDYNAMIC
2.16.840.1.113883.2.6.60.13.10.7ContainmentKyellow.png Medikation Beurteilung IndikationDYNAMIC
BeziehungAdaptation: 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>
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hl7:section
(Ind...ion)
 
Target.png
genea-data​element-1.2000Kyellow.png Indikation / Anforderung Kyellow.png GENeALYSE Datensatz
 ConstraintEN-US.png 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.
Treetree.pnghl7:templateId
II1 … 1M(Ind...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.11
Treetree.pnghl7:templateId
II1 … 1R(Ind...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.9
Treetree.pnghl7:code
0 … 1RCONF...R‑10
 ConstraintEN-US.png Gtr IndicationsSection MAY contain a code that represents indications of performing the testing.
Treetree.pnghl7:title
ST1 … 1R(Ind...ion)
 ConstraintIndikation für genetische Untersuchung 
 CONF
Elementinhalt muss "Indikation" sein
Treetree.pnghl7:entry
0 … *REN-US.png Indication Observation
Beinhaltet 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC)
(Ind...ion)
Treetree.pnghl7:entry
0 … *REN-US.png 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)
Treetree.pnghl7:entry
0 … *REN-US.png Medication Assessed Indication Observation
Beinhaltet 2.16.840.1.113883.2.6.60.13.10.7 Medikation Beurteilung Indikation (DYNAMIC)
(Ind...ion)

Interpretation Section

Id2.16.840.1.113883.10.20.20.1.13
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameInterpretationSectionBezeichnungInterpretation Section
Beschreibung
EN-US.png The InterpretationSection nests within the TestDetailsSection and its text attribute consists of narrative describing the interpretation of the genetic test results. The InterpretationSection may also consist of structured interpretations that shall reference or be referenced from Clinical Genomic Statement instances
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.13
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 1 Konzept
IdNameDatensatz
genea-data​element-1.5000Kyellow.png Interpretation / Expertenmeinung Kyellow.png GENeALYSE Datensatz
Benutzt
Benutzt 1 Template
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.2.5ContainmentKyellow.png Interpretive PhenotypeDYNAMIC
BeziehungSpezialisierung: Template 2.16.840.1.113883.10.12.201 CDA Section (2005‑09‑07)
ref
ad1bbr-
Beispiel
Beispiel
<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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Int...ion)
 
Target.png
genea-data​element-1.5000Kyellow.png Interpretation / Expertenmeinung Kyellow.png GENeALYSE Datensatz
Treetree.pnghl7:templateId
II1 … 1M(Int...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.13
Treetree.pnghl7:code
0 … 1R(Int...ion)
 ConstraintEN-US.png Gtr Interpretation Section MAY contain a code that represents interpretations of genetic testing results/ findings.
Treetree.pnghl7:title
1 … 1R(Int...ion)
 ConstraintEN-US.png Title SHALL contain text that implies "Interpretations of genetic testing results/findings"
Treetree.pnghl7:entry
0 … *REN-US.png Interpretive Phenotype
Beinhaltet 2.16.840.1.113883.10.20.20.2.5 Interpretive Phenotype (DYNAMIC)
(Int...ion)

Methodology Section

Id2.16.840.1.113883.10.20.20.1.9.2
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameMethodologySectionBezeichnungMethodology Section
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9.2
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Met...ion)
Treetree.pnghl7:templateId
II1 … 1M(Met...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.9.2
Treetree.pnghl7:code
0 … 1R(Met...ion)
 ConstraintEN-US.png Gtr Methodology Section MAY contain a code that represents methodology information about the performed genetic test.
Treetree.pnghl7:title
1 … 1R(Met...ion)
 ConstraintEN-US.png Title SHALL contain text that implies "Methodology information about the performed genetic test(s)"

References Section

Id2.16.840.1.113883.10.20.20.1.9.3
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameReferencesSectionBezeichnungReferences Section
Beschreibung
EN-US.png 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).
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9.3
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Ref...ion)
Treetree.pnghl7:templateId
II1 … 1M(Ref...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.9.3
Treetree.pnghl7:code
0 … 1RCONF...R‑14
 ConstraintEN-US.png
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").
Treetree.pnghl7:title
1 … 1RCONF...R‑15
 ConstraintEN-US.png
Title SHALL contain text that implies "Scientific references cited by the Background and Methodology
sections"

Specimen Section

Id2.16.840.1.113883.10.20.20.1.7
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameSpecimenSectionBezeichnungSpecimen Section
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.7
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 1 Template
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.3.2ContainmentKyellow.png Genomic Source ClassDYNAMIC
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Spe...ion)
 ConstraintEN-US.png
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.
Treetree.pnghl7:templateId
II1 … 1M(Spe...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.1.7
Treetree.pnghl7:code
0 … 1RCONF...R‑33
 ConstraintEN-US.png
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").
Treetree.pnghl7:title
1 … 1RCONF...R‑34
 ConstraintEN-US.png Title SHALL contain text that implies "Specimen Description"
Treetree.pnghl7:entry
0 … 1REN-US.png Genomic Source Class
Beinhaltet 2.16.840.1.113883.10.20.20.3.2 Genomic Source Class (DYNAMIC)
(Spe...ion)

Test Information Section

Id2.16.840.1.113883.10.20.20.1.9
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameTestInformationSectionBezeichnungTest Information Section
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.9
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 3 Templates
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.1.9.1ContainmentKyellow.png Background SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9.2ContainmentKyellow.png Methodology SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9.3ContainmentKyellow.png References SectionDYNAMIC
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Tes...ion)
 ConstraintEN-US.png
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.
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uid1 … 1F2.16.840.1.113883.10.20.20.1.9
Treetree.pnghl7:code
0 … 1CONF...R‑45
 ConstraintEN-US.png
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").
Treetree.pnghl7:title
1 … 1RCONF...R‑46
 ConstraintEN-US.png Title SHALL contain text that implies "Generic description of the performed genetic test(s)"
Treetree.pnghl7:section
0 … 1EN-US.png Background Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.9.1 Background Section (DYNAMIC)
(Tes...ion)
Treetree.pnghl7:section
0 … 1REN-US.png Methodology Section
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(Tes...ion)
Treetree.pnghl7:section
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Beinhaltet 2.16.840.1.113883.10.20.20.1.9.3 References Section (DYNAMIC)
(Tes...ion)

Test Performed Section

Id2.16.840.1.113883.10.20.20.1.10
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameTestPerformedSectionBezeichnungTest Performed Section
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.1.10
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 1 Template
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.3.4ContainmentKyellow.png Test Performed ObservationDYNAMIC
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
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Beinhaltet 2.16.840.1.113883.10.20.20.3.4 Test Performed Observation (DYNAMIC)
(Tes...ion)

Testdetails Section

Id2.16.840.1.113883.2.6.60.13.10.18Gültigkeit2018‑10‑25 13:36:48
StatusKyellow.png EntwurfVersions-Label
NameTestdetailsSectionBezeichnungTestdetails Section
Beschreibung
Die Testdetails-Section ist die Vorlage für alle Unter-Sections, welche spezifische Angaben zu den durchgeführten genetischen Tests beinhalten.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.18
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 7 Templates
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.2ContainmentKyellow.png Clinical Genomic StatementDYNAMIC
2.16.840.1.113883.10.20.20.1.11ContainmentKyellow.png Indications SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.10ContainmentKyellow.png Test Performed SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.12ContainmentKyellow.png Findings SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.13ContainmentKyellow.png Interpretation SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9ContainmentKyellow.png Test Information SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.7ContainmentKyellow.png Specimen SectionDYNAMIC
BeziehungAdaptation: 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
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        <list>
          <item>
            <content>
GJB2 Full Gene Test
</content>
          </item>
        </list>
      </text>
      <entry>
        <observation classCode="OBS" moodCode="EVN">
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            <originalText>
              <reference value="#a1"/>            </originalText>
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            <observation classCode="COND" moodCode="EVN">
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    <section>
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        <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>
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    <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>
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(Tes...ion)
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e.g., Genetic Variations, Cytogenetics, Gene Expression, etc.
Treetree.pnghl7:title
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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
Treetree.pnghl7:entry
0 … *REN-US.png Clinical Genomic Statement
Beinhaltet 2.16.840.1.113883.10.20.20.2 Clinical Genomic Statement (DYNAMIC)
(Tes...ion)
Treetree.pnghl7:section
0 … 1REN-US.png Indications Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.11 Indications Section (DYNAMIC)
(Tes...ion)
Treetree.pnghl7:section
0 … 1REN-US.png Test Performed Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.10 Test Performed Section (DYNAMIC)
(Tes...ion)
Treetree.pnghl7:section
0 … 1REN-US.png Findings Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.12 Findings Section (DYNAMIC)
(Tes...ion)
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0 … 1REN-US.png Interpretation Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.13 Interpretation Section (DYNAMIC)
(Tes...ion)
Treetree.pnghl7:section
0 … 1EN-US.png Test Information Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.9 Test Information Section (DYNAMIC)
(Tes...ion)
Treetree.pnghl7:section
0 … 1EN-US.png Specimen Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.7 Specimen Section (DYNAMIC)
(Tes...ion)

Testinformationen Section

Id2.16.840.1.113883.2.6.60.13.10.19Gültigkeit2018‑10‑25 13:45:32
StatusKyellow.png EntwurfVersions-Label
NameTestinformationenSectionBezeichnungTestinformationen Section
Beschreibung
Die Testinformationen-Section enthält Unter-Sections, welche narrativ Informationen zu durchgeführten genetischen Tests und den zugehörigen strukturierten Daten enthält.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.19
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 3 Templates
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.1.9.1ContainmentKyellow.png Background SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9.2ContainmentKyellow.png Methodology SectionDYNAMIC
2.16.840.1.113883.10.20.20.1.9.3ContainmentKyellow.png References SectionDYNAMIC
BeziehungAdaptation: 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
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    <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>
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      </text>
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    <section>
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        <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>
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</section>
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 ConstraintEN-US.png
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.
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Beinhaltet 2.16.840.1.113883.10.20.20.1.9.1 Background Section (DYNAMIC)
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(Tes...ion)
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0 … 1EN-US.png References Section
Beinhaltet 2.16.840.1.113883.10.20.20.1.9.3 References Section (DYNAMIC)
(Tes...ion)

Untersuchungsmaterial Section

Id2.16.840.1.113883.2.6.60.13.10.17Gültigkeit2018‑10‑25 13:12:54
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KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
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BeziehungAdaptation: 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
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Beispiel
Beispiel
<section>
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    <list>
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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.
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Gtr Specimen Section MAY contain a code that represents descriptions of the specimen used in the testing
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Treetree.pnghl7:title
ST1 … 1RCONF...R‑34
 ConstraintEN-US.png Title SHALL contain text that implies "Specimen Description"
 CONF
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Beinhaltet 2.16.840.1.113883.10.20.20.3.2 Genomic Source Class (DYNAMIC)
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Zusammenfassende Interpretation Section

Id2.16.840.1.113883.2.6.60.13.10.10Gültigkeit2018‑09‑24 11:41:37
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Zusammenfassende Beurteilung aller durchgeführter genetischer Untersuchungen.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.10
KlassifikationCDA Section level template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
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2.16.840.1.113883.10.20.20.2.4ContainmentKyellow.png Clinical Genomic Statement Overall InterpretationDYNAMIC
BeziehungAdaptation: 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>
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    <list>
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        <content styleCode="Bold">Positiv</content>      </item>
      <item>
        <content>
In der Parallelsequenzierung bestätigt sich die Mutation in Exon 21 des EGFR-Gens.
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      </item>
    </list>
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the interpretations of the various genetic testing results/findings in a GTR Document.
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Title SHALL contain text that implies "An overall interpretation summarizing the interpretations of the
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Elementinhalt muss "Zusammenfassende Interpretation" sein
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Zusammenfassung Durchgeführte Untersuchungen Section

Id2.16.840.1.113883.2.6.60.13.10.8Gültigkeit2018‑09‑24 11:17:36
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BeziehungAdaptation: 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>
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Mutationsanalyse mittels Parallelsequenzierung (Next Generation Sequencing) von Multiplex PCR Amplikons des Lungen-Panels.
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Zusammenfassung Section

Id2.16.840.1.113883.2.6.60.13.10.13Gültigkeit2018‑10‑25 12:04:03
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Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
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BeziehungAdaptation: 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
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            <content ID="a2">Indication: Profound sensorineural hearing loss</content>          </item>
        </list>
      </text>
      <entry>
        <observation classCode="COND" moodCode="EVN">
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            <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>
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      </text>
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    <section>
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          <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>
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                  <id root="2.16.840.1.113883.19.3.2409.345"/>                  <representedOrganization>
                    <name>The New Genetic Testing Analysis Service</name>                  </representedOrganization>
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            <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>
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      </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>
ItemDTKardKonfBeschreibungLabel
hl7:section
(Zus...ion)
 ConstraintUnterabschnitte des Abschnitts SummarySection SOLLTEN in der in diesem Implementierungsleitfaden angegebenen Reihenfolge angezeigt werden.
Treetree.pnghl7:templateId
II1 … 1M(Zus...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.13
Treetree.pnghl7:code
0 … 1R(Zus...ion)
 ConstraintGtr Summary Section KANN einen Code enthalten, der die Zusammenfassung aller in diesem Dokument beschriebenen Gentests darstellt.
Treetree.pnghl7:title
ST1 … 1R(Zus...ion)
 CONF
Elementinhalt muss "Zusammenfassung" sein
Treetree.pnghl7:section
0 … 1RBeinhaltet 2.16.840.1.113883.2.6.60.13.10.9 Indikation Section (DYNAMIC)(Zus...ion)
Treetree.pnghl7:section
0 … 1RBeinhaltet 2.16.840.1.113883.2.6.60.13.10.8 Zusammenfassung Durchgeführte Untersuchungen Section (DYNAMIC)(Zus...ion)
Treetree.pnghl7:section
0 … 1RBeinhaltet 2.16.840.1.113883.2.6.60.13.10.10 Zusammenfassende Interpretation Section (DYNAMIC)(Zus...ion)
Treetree.pnghl7:section
0 … 1RBeinhaltet 2.16.840.1.113883.2.6.60.13.10.14 Empfehlungen Section (DYNAMIC)(Zus...ion)
Treetree.pnghl7:section
0 … 1Beinhaltet 2.16.840.1.113883.2.6.60.13.10.17 Untersuchungsmaterial Section (DYNAMIC)(Zus...ion)


CDA Entry Level Templates

Clinical Genomic Statement

Id2.16.840.1.113883.10.20.20.2
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameClinicalGenomicStatementBezeichnungClinical Genomic Statement
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.2
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 4 Templates
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.3.3ContainmentKyellow.png Indication ObservationDYNAMIC
2.16.840.1.113883.10.20.20.2.5ContainmentKyellow.png Interpretive PhenotypeDYNAMIC
2.16.840.1.113883.10.20.20.3.2ContainmentKyellow.png Genomic Source ClassDYNAMIC
2.16.840.1.113883.10.20.20.4ContainmentKyellow.png Genomic Associated ObservationDYNAMIC
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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Cli...ent)
Treetree.pnghl7:templateId
II1 … 1M(Cli...ent)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.2
Treetree.pnghl7:code
1 … 1REN-US.png
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)
Treetree.pnghl7:value
0 … 1(Cli...ent)
Treetree.pnghl7:entryRelationship
1 … 1REN-US.png Indication Observation
Beinhaltet 2.16.840.1.113883.10.20.20.3.3 Indication Observation (DYNAMIC)
(Cli...ent)
Treeblank.pngTreetree.png@typeCode
cs1 … 1FRSON
Treetree.pnghl7:entryRelationship
0 … 1REN-US.png Interpretive Phenotype
Beinhaltet 2.16.840.1.113883.10.20.20.2.5 Interpretive Phenotype (DYNAMIC)
(Cli...ent)
Treeblank.pngTreetree.png@typeCode
cs1 … 1FSPRT
Treetree.pnghl7:entryRelationship
0 … 1REN-US.png Genomic Source Class
Beinhaltet 2.16.840.1.113883.10.20.20.3.2 Genomic Source Class (DYNAMIC)
(Cli...ent)
Treeblank.pngTreetree.png@typeCode
cs1 … 1FSUBJ
Treetree.pnghl7:performer
0 … *EN-US.png
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)
 ConstraintEN-US.png Contains exactly one [1..1] CDA Performer2
Treetree.pnghl7:entryRelationship
1 … 1REN-US.png Genomic Associated Observation
Beinhaltet 2.16.840.1.113883.10.20.20.4 Genomic Associated Observation (DYNAMIC)
(Cli...ent)
Treeblank.pngTreetree.png@typeCode
cs1 … 1FSUBJ

Clinical Genomic Statement Overall Interpretation

Id2.16.840.1.113883.10.20.20.2.4
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameClinicalGenomicStatementOverallInterpretationBezeichnungClinical Genomic Statement Overall Interpretation
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.2.4
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 1 Template
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.5.1ContainmentKyellow.png Genomic Observations OrganizerDYNAMIC
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Cli...ion)
Treetree.png@classCode
cs0 … 1 
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11527 ActClass (DYNAMIC)
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Cli...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.2.4
Treetree.pnghl7:entryRelationship
0 … 1REN-US.png Genomic Observations Organizer
Beinhaltet 2.16.840.1.113883.10.20.20.5.1 Genomic Observations Organizer (DYNAMIC)
(Cli...ion)
Treeblank.pngTreetree.png@typeCode
cs1 … 1FSPRT

Genetic Disease Assessed Indication Observation

Id2.16.840.1.113883.10.20.20.3.3.1
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameGeneticDiseaseAssessedIndicationObservationBezeichnungGenetic Disease Assessed Indication Observation
BeschreibungEN-US.png TheGeneticDiseaseIndicationObservation represents the genetic disease being assessed. The SNOMED terminology is recommended for representing the disease assessed.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.3.1
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Gen...ion)
Treetree.png@classCode
cs0 … 1FCOND
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Gen...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.3.3.1
Treetree.pnghl7:code
1 … 1R(Gen...ion)
Treeblank.pngTreetree.png@code
CONF0 … 1F51967-8
Treeblank.pngTreetree.png@codeSystem
0 … 1F2.16.840.1.113883.6.1 (LOINC)
Treeblank.pngTreetree.png@codeSystemName
0 … 1FLOINC
Treeblank.pngTreetree.png@displayName
0 … 1FGenetic disease assessed
Treetree.pnghl7:value
CD1 … 1R(Gen...ion)

Genomic Associated Observation

Id2.16.840.1.113883.10.20.20.4
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameGenomicAssociatedObservationBezeichnungGenomic Associated Observation
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.4
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
EN-US.png
SHALL satisfy: GenomicAssociatedObservation shall be associated with a GenomicObservation within a
ClinicalGenomicStatement.
(Gen...ion)
Treetree.png@classCode
cs0 … 1FOBS
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Gen...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.4
Treetree.pnghl7:code
1 … 1R(Gen...ion)
Treetree.pnghl7:value
0 … 1R(Gen...ion)
Treetree.pnghl7:methodCode
0 … *R(Gen...ion)

Genomic Observation Reference

Id2.16.840.1.113883.10.20.20.6
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameGenomicObservationReferenceBezeichnungGenomic Observation Reference
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.6
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
EN-US.png
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)
Treetree.png@classCode
cs0 … 1 
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11527 ActClass (DYNAMIC)
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Gen...nce)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.6
Treetree.pnghl7:id
1 … 1R(Gen...nce)

Genomic Observations Organizer

Id2.16.840.1.113883.10.20.20.5.1
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameGenomicObservationsOrganizerBezeichnungGenomic Observations Organizer
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.5.1
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Benutzt
Benutzt 1 Template
Benutzt als NameVersion
2.16.840.1.113883.10.20.20.6ContainmentKyellow.png Genomic Observation ReferenceDYNAMIC
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:organizer
(Gen...zer)
Treetree.png@classCode
cs1 … 1R
 CONF
Der Wert von @classCode muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.11527 ActClass (DYNAMIC)
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Gen...zer)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.5.1
Treetree.pnghl7:entryRelationship
1 … *REN-US.png Genomic Observation Reference
Beinhaltet 2.16.840.1.113883.10.20.20.6 Genomic Observation Reference (DYNAMIC)
(Gen...zer)
Treeblank.pngTreetree.png@typeCode
cs1 … 1FCOMP

Genomic Source Class

Id2.16.840.1.113883.10.20.20.3.2
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameGenomicSourceClassBezeichnungGenomic Source Class
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.2
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 2 Konzepte
IdNameDatensatz
genea-data​element-1.1510Kyellow.png Probe Kyellow.png GENeALYSE Datensatz
genea-data​element-1.4110Kyellow.png Klassifikation Kyellow.png GENeALYSE Datensatz
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
EN-US.png 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
 
Target.png
genea-data​element-1.4110Kyellow.png Klassifikation Kyellow.png GENeALYSE Datensatz
Treetree.png@classCode
cs0 … 1FOBS
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1MCONF...R‑80
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.3.2
Treetree.pnghl7:code
CD1 … 1RCONF...R‑81
Treeblank.pngTreetree.png@code
CONF0 … 1F48002-0
Treeblank.pngTreetree.png@codeSystem
0 … 1F2.16.840.1.113883.6.1 (LOINC)
Treeblank.pngTreetree.png@codeSystemName
0 … 1FLOINC
Treeblank.pngTreetree.png@displayName
0 … 1FGenomic source class
Treetree.pnghl7:value
CD0 … 1RCONF...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)
Treetree.pnghl7:specimen
0 … 1REN-US.png
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
 
Target.png
genea-data​element-1.1510Kyellow.png Probe Kyellow.png GENeALYSE Datensatz
 ConstraintEN-US.png Contains exactly one [1..1] CDA Specimen

Indication Observation

Id2.16.840.1.113883.10.20.20.3.3
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameIndicationObservationBezeichnungIndication Observation
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.3
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 2 Konzepte
IdNameDatensatz
genea-data​element-1.2010Kyellow.png Indikation Kyellow.png GENeALYSE Datensatz
genea-data​element-1.2030Kyellow.png Indikation (mögliche) Erkrankung Kyellow.png GENeALYSE Datensatz
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Ind...ion)
 
Target.png
genea-data​element-1.2010Kyellow.png Indikation Kyellow.png GENeALYSE Datensatz
Treetree.png@classCode
cs0 … 1FOBS
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Ind...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.3.3
Treetree.pnghl7:code
1 … 1R(Ind...ion)
Treetree.pnghl7:value
CD0 … 1R(Ind...ion)
 
Target.png
genea-data​element-1.2030Kyellow.png Indikation (mögliche) Erkrankung Kyellow.png GENeALYSE Datensatz

Interpretive Phenotype

Id2.16.840.1.113883.10.20.20.2.5
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameInterpretivePhenotypeBezeichnungInterpretive Phenotype
Beschreibung
EN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.2.5
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Int...ype)
Treetree.png@classCode
cs0 … 1FOBS
Treetree.png@moodCode
cs0 … 1FDEF
Treetree.pnghl7:templateId
II1 … 1M(Int...ype)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.2.5
Treetree.pnghl7:code
1 … 1REN-US.png
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)
Treetree.pnghl7:value
0 … 1REN-US.png
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)
Treetree.pnghl7:methodCode
0 … *REN-US.png
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)
Treetree.pnghl7:effectiveTime
0 … 1REN-US.png
The effective time attribute relates to the time at whcih the interpretation of the genomic observation/finding
has been performed.
(Int...ype)
Treetree.pnghl7:performer
0 … *REN-US.png
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)
 ConstraintEN-US.png Contains exactly one [1..1] CDA Performer2

Medication Assessed Indication Observation

Id2.16.840.1.113883.10.20.20.3.3.2
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameMedicationAssessedIndicationObservationBezeichnungMedication Assessed Indication Observation
BeschreibungEN-US.png The MedicationAssessedIndicationObservation represents the medication being assessed. The RxNorm medication terminology is recommended for representing the medication.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.3.2
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Med...ion)
Treetree.png@classCode
cs0 … 1FCOND
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Med...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.3.3.2
Treetree.pnghl7:code
CD1 … 1R(Med...ion)
Treeblank.pngTreetree.png@code
CONF0 … 1F51963-7
Treeblank.pngTreetree.png@codeSystem
0 … 1F2.16.840.1.113883.6.1 (LOINC)
Treeblank.pngTreetree.png@codeSystemName
0 … 1FLOINC
Treeblank.pngTreetree.png@displayName
0 … 1FMedication Assessed
Treetree.pnghl7:value
CD1 … 1R(Med...ion)

Medikation Beurteilung Indikation

Id2.16.840.1.113883.2.6.60.13.10.7Gültigkeit2018‑09‑24 10:34:15
StatusKyellow.png EntwurfVersions-Label
NameMedikationBeurteilungIndikationBezeichnungMedikation Beurteilung Indikation
BeschreibungAngabe der Medikation oder Wirkstoffgruppe, für welche das mögliche Vorliegen einer Indikation untersucht wird.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.2.6.60.13.10.7
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
Assoziiert mit
Assoziiert mit 1 Konzept
IdNameDatensatz
genea-data​element-1.5150Kyellow.png Therapeutikum/Wirkstoff/Wirkstoffklasse Kyellow.png GENeALYSE Datensatz
BeziehungAdaptation: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Med...ion)
 
Target.png
genea-data​element-1.5150Kyellow.png Therapeutikum/Wirkstoff/Wirkstoffklasse Kyellow.png GENeALYSE Datensatz
Treetree.png@classCode
cs0 … 1FCOND
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Med...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.3.3.2
Treetree.pnghl7:templateId
II1 … 1R(Med...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.7
Treetree.pnghl7:code
CD1 … 1R(Med...ion)
Treeblank.pngTreetree.png@code
CONF0 … 1F51963-7
Treeblank.pngTreetree.png@codeSystem
0 … 1F2.16.840.1.113883.6.1 (LOINC)
Treeblank.pngTreetree.png@codeSystemName
0 … 1FLOINC
Treeblank.pngTreetree.png@displayName
0 … 1FMedication Assessed
Treetree.pnghl7:value
CD1 … 1RAngabe des WHO ATC Codes(Med...ion)

Test Performed Observation

Id2.16.840.1.113883.10.20.20.3.4
ref
gtr-
Gültigkeit2013‑02‑01
StatusKyellow.png EntwurfVersions-Label
NameTestPerformedObservationBezeichnungTest Performed Observation
BeschreibungEN-US.png 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.
KontextElternknoten des Template-Element mit Id 2.16.840.1.113883.10.20.20.3.4
KlassifikationCDA Entry Level Template
Offen/GeschlossenOffen (auch andere als die definierten Elemente sind erlaubt)
BeziehungSpezialisierung: 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>
ItemDTKardKonfBeschreibungLabel
hl7:observation
(Tes...ion)
Treetree.png@classCode
cs0 … 1FOBS
Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:templateId
II1 … 1M(Tes...ion)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20.3.4
Treetree.pnghl7:code
1 … 1REN-US.png
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
Treetree.pnghl7:value
CD0 … 1REN-US.png
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
Treetree.pnghl7:methodCode
0 … 1REN-US.png
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
Treetree.pnghl7:performer
0 … *REN-US.png
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)
 ConstraintEN-US.png 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.

Terminologien

Value Sets

Anhang

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

Referenzen

  1. Abstimmungsverfahren (Regeln) des Interoperabilitätsforums http://wiki.hl7.de/index.php?title=Abstimmungsverfahren_(Regeln)
  2. HL7 Deutschland e. V. http://www.hl7.de
  3. Deutsches Krebsforschungszentrum (2013)
  4. Deutsches Krebsforschungszentrum (2011)
  5. Deutsches Krebsforschungszentrum (2016)
  6. Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN: Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists (2017)
  7. Implementierungsleitfaden "Arztbrief Plus", HL7 Deutschland 2017-2019 http://download.hl7.de/documents/cdar2-arztbrief/ArztbriefPlus-v312.pdf
  8. Informationen zu LANR und BSNR http://wiki.hl7.de/index.php?title=LANR_und_BSNR
  9. Best Practice Leitseite des Interoperabilitätsforums http://wiki.hl7.de/index.php?title=Kategorie:Best_practice
  10. ART-DECOR: How to read ART-DECOR Definitions [1]

Abbildungen

Zurzeit keine.

Tabellen

Zurzeit keine.