Biomarker- und Genomanalysebefund

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Logo-hsnr.png Hochschule Niederrhein Krefeld
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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. 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)
    19. 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)
    20. 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
NameGenetischerBefundberichtAnzeigenameGenetischer 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)
Benutzt
Benutzt 20 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
1.2.276.0.76.10.2027InklusionKgreen.png CDA encompassingEncounter PatientenkontaktDYNAMIC
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
<hl7: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>
</hl7:ClinicalDocument>
Beispiel
Beispiel
<hl7: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>
    </hl7:structuredBody>
  </hl7:component>
</hl7:ClinicalDocument>
ItemDTKardKonfBeschreibungLabel
hl7:ClinicalDocument
(Gen...cht)
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Treetree.png@moodCode
cs0 … 1FEVN
Treetree.pnghl7:realmCode
CS0 … 1R(Gen...cht)
Treetree.pnghl7:typeId
II1 … 1R(Gen...cht)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.1.3
Treeblank.pngTreetree.png@extension
st1 … 1FPOCD_HD000040
Treetree.pnghl7:templateId
II1 … 1M(Gen...cht)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.10.20.20
Treetree.pnghl7:templateId
II1 … 1R(Gen...cht)
Treeblank.pngTreetree.png@root
uid1 … 1F2.16.840.1.113883.2.6.60.13.10.1
Treetree.pnghl7:id
II1 … 1R(Gen...cht)
Treetree.pnghl7:code
CE1 … 1R(Gen...cht)
Treeblank.pngTreetree.png@code
CONF0 … 1F51969-4
Treeblank.pngTreetree.png@codeSystem
0 … 1F2.16.840.1.113883.6.1 (LOINC)
Treeblank.pngTreetree.png@displayName
0 … 1FGenetic analysis summary report
Treetree.pnghl7:title
1 … 1RStandardtitel ist "Genetischer Befundbericht"(Gen...cht)
Treetree.pnghl7:effectiveTime
TS1 … 1R(Gen...cht)
Treetree.pnghl7:confidentialityCode
CE1 … 1R(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.16926 HL7 BasicConfidentialityKind (DYNAMIC)
Treetree.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)
Treetree.pnghl7:setId
II0 … 1(Gen...cht)
Treetree.pnghl7:versionNumber
INT0 … 1(Gen...cht)
Eingefügt1 … 1M von 1.2.276.0.76.10.2001 CDA recordTarget (DYNAMIC)
Treetree.pnghl7:recordTarget
1 … 1M(Gen...cht)
Treeblank.pngTreetree.png@typeCode
0 … 1FRCT
Treeblank.pngTreetree.png@context​Control​Code
0 … 1FOP
 Beispiel<recordTarget typeCode="RCT" contextControlCode="OP">
  <patientRole classCode="PAT">
    <!-- ... -->
  </patientRole>
</recordTarget>
Treeblank.pngTreetree.pnghl7:patientRole
1 … 1(Gen...cht)
Treeblank.pngTreeblank.pngTreetree.png@classCode
0 … 1FPAT
 Beispiel<patientRole classCode="PAT">
  <id extension="186245" root="1.2.276.0.76.3.1.139.3.871"/>  <patient classCode="PSN" determinerCode="INSTANCE">
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Treeblank.pngTreeblank.pngTreetree.pnghl7:id
II1 … *(Gen...cht)
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Treeblank.pngTreeblank.pngTreetree.pnghl7:addr
AD0 … *Adresse des Patienten(Gen...cht)
 Beispiel<addr use="HP">
  <streetName>Dorfstraße</streetName>  <houseNumber>54</houseNumber>  <postalCode>51371</postalCode>  <city>Leverkusen</city></addr>
Treeblank.pngTreeblank.pngTreetree.pnghl7:telecom
TEL0 … *Kontaktdaten des Patienten(Gen...cht)
 Beispiel<telecom use="H" value="tel:+4930140400"/><telecom use="MC" value="tel:+492211234567"/><telecom value="mailto:herberthannes.mustermann@provider.de"/>
Treeblank.pngTreeblank.pngTreetree.pnghl7:patient
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0 … 1FPSN
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0 … 1FINSTANCE
 Beispiel<patient classCode="PSN" determinerCode="INSTANCE">
  <name>
    <!-- ... -->
  </name>
  <administrativeGenderCode code="M" codeSystem="2.16.840.1.113883.5.1"/>  <birthTime value="19541223"/></patient>
Eingefügt1 … 1M von 1.2.276.0.76.10.90030 Personenname (DYNAMIC)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:name
PN1 … 1MDie Reihenfolge der Namensbestandteile soll der typischen Schreibweise entsprechen. Zu beachten ist, dass prefix- und suffix-Elemente mit einem Leerzeichen enden müssen, wenn sie nicht unmittelbar an den folgenden Namensbestandteil anschließen sollen.
(Gen...cht)
 Beispiel
Dr. med. Sine Johanna Gräfin von Oberberg
<name>
  <prefix qualifier="AC">Dr. med. </prefix>  <given>Sine Johanna</given>  <prefix qualifier="NB">Gräfin </prefix>  <prefix qualifier="VV">von </prefix>  <family>Oberberg</family></name>
 Beispiel
Prof. Dr. med. Dr. rer. nat. Fritz Julius Karl Freiherr von und zu Rathenburg vor der Isar, MdB
<name>
  <prefix qualifier="AC">Prof. Dr. med. Dr. rer. nat. </prefix>  <given>Fritz</given>  <given>Julius</given>  <given>Karl</given>  <prefix qualifier="NB">Freiherr </prefix>  <prefix qualifier="VV">von und zu </prefix>  <family>Rathenburg vor der Isar</family>  <suffix>MdB</suffix></name>
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:prefix
ENXP0 … *Titel(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.png wo [@qualifier='AC']
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@qualifier
set_cs1 … 1FAC
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:given
ENXP0 … *Vorname(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:prefix
ENXP0 … *Namenszusatz(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.png wo [@qualifier='NB']
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@qualifier
set_cs1 … 1FNB
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:prefix
ENXP0 … *Vorsatzwort(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.png wo [@qualifier='VV']
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.png@qualifier
set_cs1 … 1FVV
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:family
ENXP0 … *Nachname(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:suffix
ENXP0 … *Suffix(Gen...cht)
Treeblank.pngTreeblank.pngTreeblank.pngTreetree.pnghl7:administrative​Gender​Code
CE1 … 1RGeschlecht (administrativ) des Patienten(Gen...cht)
 CONF
Der Wert von @code muss gewählt werden aus dem Value Set 2.16.840.1.113883.1.11.1 AdministrativeGender (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)
 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 MaritalStatus (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 ReligiousAffiliation (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)
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)
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 … 1(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 1.2.276.0.76.10.2005 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)
Treeblank.png 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.png