Variante - Observation


Beschreibung

Dieses Profil ermöglicht eine vollständige Beschreibung der gefundenen Variante unter Verwendung von Eigenschaften aus einer Vielzahl von Testmethoden.

  • Als Nomenklatur für Observation.component:cytogenetic-location.valueCodeableConcept kann das CodeSystem Cytogenetic (chromosome) location (NCBI/NLM) verwendet werden für das bislang keine Canonical URl existiert, aber eine OID urn:oid:2.16.840.1.113883.6.335 aus HL7 Version 2.5.1 Implementation Guide: Laboratory Results Interface.

  • Die Beschreibung komplexer Varianten, z.B. die Abbildung von 'Compound Heterozygous', erfolgt über zwei Variant Instanzen, wie hier beschrieben

NameCanonical
MII_PR_MolGen_Variantehttps://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante

Das Profil ist abgeleitet vom Profil Variant aus HL7 Genomics Reporting Implementation Guide.


Diff

secondary-findingI0..1Extension(CodeableConcept)
body-structureI0..1Extension(Reference(BodyStructure))
identifierΣ0..*Identifier
basedOnΣ I0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)
partOfΣ I0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)
statusS Σ ?!1..1codeBinding
codingΣ1..*CodingPattern
textΣ0..1string
codeS Σ1..1CodeableConceptPattern
subjectS Σ I1..1MII-Reference(Patient | Group)
focusΣ I0..*Reference(Resource)
encounterΣ I0..1Reference(Encounter)
effectiveDateTimedateTime
effectivePeriodPeriod
effectiveTimingTiming
effectiveInstantinstant
issuedΣ0..1instant
performerΣ I0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)
valueQuantityQuantity
valueStringstring
valueBooleanboolean
valueIntegerinteger
valueRangeRange
valueRatioRatio
valueSampledDataSampledData
valueTimetime
valueDateTimedateTime
valuePeriodPeriod
valueCodeableConceptΣ I0..1CodeableConceptBinding
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
note0..*Coded Annotation
bodySite0..1CodeableConcept
methodS0..1CodeableConceptBinding
specimenS I0..1Reference(Specimen)
deviceS I0..1Reference(Device | DeviceMetric)
lowI0..1SimpleQuantity
highI0..1SimpleQuantity
type0..1CodeableConceptBinding
appliesTo0..*CodeableConcept
ageI0..1Range
text0..1string
hasMemberΣ I0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)
derivedFromΣ I0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)
codeΣ1..1CodeableConcept
valueQuantityQuantity
valueCodeableConceptCodeableConcept
valueStringstring
valueBooleanboolean
valueIntegerinteger
valueRangeRange
valueRatioRatio
valueSampledDataSampledData
valueTimetime
valueDateTimedateTime
valuePeriodPeriod
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueΣ0..1decimal
comparatorΣ ?!0..1codeBinding
unitΣ0..1string
systemΣ I0..1uriPattern
codeΣ0..1code
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)


Snapshot

secondary-findingI0..1Extension(CodeableConcept)
body-structureI0..1Extension(Reference(BodyStructure))
identifierΣ0..*Identifier
basedOnΣ I0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)
partOfΣ I0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)
statusS Σ ?!1..1codeBinding
codingΣ1..*CodingPattern
textΣ0..1string
codeS Σ1..1CodeableConceptPattern
subjectS Σ I1..1MII-Reference(Patient | Group)
focusΣ I0..*Reference(Resource)
encounterΣ I0..1Reference(Encounter)
effectiveDateTimedateTime
effectivePeriodPeriod
effectiveTimingTiming
effectiveInstantinstant
issuedΣ0..1instant
performerΣ I0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)
valueQuantityQuantity
valueStringstring
valueBooleanboolean
valueIntegerinteger
valueRangeRange
valueRatioRatio
valueSampledDataSampledData
valueTimetime
valueDateTimedateTime
valuePeriodPeriod
valueCodeableConceptΣ I0..1CodeableConceptBinding
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
note0..*Coded Annotation
bodySite0..1CodeableConcept
methodS0..1CodeableConceptBinding
specimenS I0..1Reference(Specimen)
deviceS I0..1Reference(Device | DeviceMetric)
lowI0..1SimpleQuantity
highI0..1SimpleQuantity
type0..1CodeableConceptBinding
appliesTo0..*CodeableConcept
ageI0..1Range
text0..1string
hasMemberΣ I0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)
derivedFromΣ I0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)
codeΣ1..1CodeableConcept
valueQuantityQuantity
valueCodeableConceptCodeableConcept
valueStringstring
valueBooleanboolean
valueIntegerinteger
valueRangeRange
valueRatioRatio
valueSampledDataSampledData
valueTimetime
valueDateTimedateTime
valuePeriodPeriod
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueΣ0..1decimal
comparatorΣ ?!0..1codeBinding
unitΣ0..1string
systemΣ I0..1uriPattern
codeΣ0..1code
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConceptPattern
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)


FHIR-Element Logischer Datensatz
Observation.method Methoden.Methode
Observation.device Methoden.Geräte / Software / Kits
Observation.note Methoden.Limitierungen/Bemerkungen
Observation.component:gene-studied Methoden.Getestete Gene
Observation.component:transcript-ref-seq Ergebnisse.Veränderungen.Transcript-ID
Observation.component:coding-hgvs Ergebnisse.Veränderungen.DNA Veränderung
Observation.component:protein-hgvs Ergebnisse.Veränderungen.Veränderung auf Proteinebene
Observation.component:genomic-hgvs Ergebnisse.Veränderungen.Genomische DNA Veränderung
Observation.component:reference-sequence-assembly Ergebnisse.Veränderungen.Referenzgenom
Observation.component:coding-change-type Ergebnisse.Veränderungen.DNA Mutationstyp
Observation.component:amino-acid-change-type Ergebnisse.Veränderungen.Mutationskonsequenz (funktionell)
Observation.component:sample-allelic-frequency Ergebnisse.Veränderungen.Proben-Allelfrequenz
Observation.component:genomic-source-class Ergebnisse.Veränderungen.Ursprung der Variante
Observation.component:cytogenetic-location Ergebnisse.Veränderungen.Zytogenetische Lokalisierung
Observation.component:copy-number Ergebnisse.Kopienzahlvariationen
Observation.component:transcript-ref-seq Methoden.Referenzsequenz
Observation.component:allelic-read-depth Methoden.Read depth/Coverage
Observation.component:dna-region Methoden.Intron spanning/IVS
Observation.component:exact-start-end Methoden.Start- und Endnukleotid
Observation.derivedFrom Ergebnisse.Daten
Observation.component:chromosome-identifier Ergebnisse.Veränderungen.Chromosom
Observation.component:alt-allele Ergebnisse.Veränderungen.Alt Allel
Observation.component:ref-allele Ergebnisse.Veränderungen.Ref Allel
Observation.component:dna-region Ergebnisse.Veränderungen.Exon
Observation.component.variation-code Ergebnisse.Veränderungen.Varianten ID
Observation.status Weiteres.Berichtstatus
Observation.component:detection-limit Methoden.Sensitivität/Detektionslimit

Suchparameter

Folgende Suchparameter sind für das Modul Pathologie-Befund relevant, auch in Kombination:

  1. Der Suchparameter _id MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?_id=example-mii-molgen-variante-1

    Anwendungshinweise: Weitere Informationen zur Suche nach "_id" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".

  2. Der Suchparameter "_profile" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante

    Anwendungshinweise: Weitere Informationen zur Suche nach "_profile" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".

  3. Der Suchparameter "code" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?code=http://loinc.org|69548-6

    Anwendungshinweise: Weitere Informationen zur Suche nach "code" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  4. Der Suchparameter "subject" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?subject=Patient/example-mii-molgen-patient

    Anwendungshinweise: Weitere Informationen zur Suche nach "subject" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  5. Der Suchparameter "category" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?category=http://terminology.hl7.org/CodeSystem/observation-category|laboratory

    Anwendungshinweise: Weitere Informationen zur Suche nach "category" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  6. Der Suchparameter "encounter" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?encounter=Encounter/12345

    Anwendungshinweise: Weitere Informationen zur Suche nach "encounter" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  7. Der Suchparameter "code-value-concept" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?code-value-concept=http://loinc.org|69548-6$http://loinc.org|LA9633-4

    Anwendungshinweise: Weitere Informationen zur Suche nach "code-value-concept" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  8. Der Suchparameter "code-value-quantity" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?code-value-quantity=http://loinc.org|82155-3$6http://unitsofmeasure.org|1

    Anwendungshinweise: Weitere Informationen zur Suche nach "code-value-quantity" finden sich in der FHIR-Basisspezifikation - Abschnitt "composite".

  9. Der Suchparameter "component-code" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?component-code=http://loinc.org|48018-6

    Anwendungshinweise: Weitere Informationen zur Suche nach "component-code" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  10. Der Suchparameter "component-code-value-concept" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?component-code-value-concept=http://loinc.org|48018-6$http://www.genenames.org/geneId|HGNC:1097

    Anwendungshinweise: Weitere Informationen zur Suche nach "component-code-value-concept" finden sich in der FHIR-Basisspezifikation - Abschnitt "composite".

  11. Der Suchparameter "component-code-value-quantity" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?component-code-value-quantity=http://loinc.org|81258-6$ap30%|http://unitsofmeasure.org|%25

    Anwendungshinweise: Weitere Informationen zur Suche nach "component-code-value-quantity" finden sich in der FHIR-Basisspezifikation - Abschnitt "composite".

  12. Der Suchparameter "component-value-concept" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?component-value-concept=http://sequenceontology.org|SO:SO:1000008

    Anwendungshinweise: Weitere Informationen zur Suche nach "component-code-value-concept" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  13. Der Suchparameter "component-value-quantity" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?component-value-quantity=ap30%|http://unitsofmeasure.org|%25

    Anwendungshinweise: Weitere Informationen zur Suche nach "component-value-quantity" finden sich in der FHIR-Basisspezifikation - Abschnitt "composite".

  14. Der Suchparameter "date" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?date=2022-07-13

    Anwendungshinweise: Weitere Informationen zur Suche nach "date" finden sich in der FHIR-Basisspezifikation - Abschnitt "date".

  15. Der Suchparameter "derived-from" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?derived-from=Observation/example-mii-molgen-variante-1

    Anwendungshinweise: Weitere Informationen zur Suche nach "derived-from" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  16. Der Suchparameter "device" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?device=Device/example-mii-molgen-device-sequencer

    Anwendungshinweise: Weitere Informationen zur Suche nach "device" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  17. Der Suchparameter "specimen" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?specimen=Specimen/example-mii-molgen-specimen

    Anwendungshinweise: Weitere Informationen zur Suche nach "specimen" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  18. Der Suchparameter "encounter" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?encounter=Encounter/12345

    Anwendungshinweise: Weitere Informationen zur Suche nach "encounter" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  19. Der Suchparameter "method" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?method=http://loinc.org|LA26398-0

    Anwendungshinweise: Weitere Informationen zur Suche nach "method" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  20. Der Suchparameter "patient" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?patient=Patient/example-mii-molgen-patient-2

    Anwendungshinweise: Weitere Informationen zur Suche nach "patient" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  21. Der Suchparameter "performer" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?performer=Practioner/example-mii-molgen-practitioner-laboratory

    Anwendungshinweise: Weitere Informationen zur Suche nach "performer" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  22. Der Suchparameter "status" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?status=final

    Anwendungshinweise: Weitere Informationen zur Suche nach "status" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".


Examples

Beispiel 1: Variante BRAF

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-variante-1",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "69548-6",
                "display": "Genetic variant assessment"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:1097",
                        "system": "http://www.genenames.org/geneId",
                        "display": "BRAF"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48013-7",
                        "display": "Genomic reference sequence [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_004333.4",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "47999-8",
                        "system": "http://loinc.org",
                        "display": "DNA region name [Identifier]"
                    }
                ]
            },
            "valueString": "Exon #15"
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "47999-8",
                        "system": "http://loinc.org",
                        "display": "DNA region name [Identifier]"
                    }
                ]
            },
            "valueString": "Codon #582 - #612"
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48004-6",
                        "display": "DNA change (c.HGVS)"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_004333.4:c.1799T>A",
                        "system": "http://varnomen.hgvs.org"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48005-3",
                        "display": "Amino acid change (pHGVS)"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "p.(Val600Glu)",
                        "system": "http://varnomen.hgvs.org"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81258-6",
                        "display": "Sample variant allelic frequency [NFr]"
                    }
                ]
            },
            "valueQuantity": {
                "value": 30.25,
                "code": "%",
                "system": "http://unitsofmeasure.org"
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48001-2",
                        "display": "Cytogenetic (chromosome) location"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "7q34",
                        "system": "urn:oid:2.16.840.1.113883.6.335"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48019-4",
                        "display": "DNA change type"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "SO:1000008",
                        "system": "http://sequenceontology.org",
                        "display": "point_mutation"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48006-1",
                        "display": "Amino acid change [Type]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA6698-0",
                        "system": "http://loinc.org",
                        "display": "Missense"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81252-9",
                        "display": "Discrete genetic variant"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "rs113488022",
                        "system": "http://www.ncbi.nlm.nih.gov/projects/SNP"
                    }
                ]
            }
        }
    ],
    "basedOn":  [
        {
            "reference": "ServiceRequest/mii-exa-molgen-anforderung-1"
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient"
    },
    "valueCodeableConcept": {
        "coding":  [
            {
                "code": "LA9633-4",
                "system": "http://loinc.org",
                "display": "Present"
            }
        ]
    },
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-1"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer"
    },
    "derivedFrom":  [
        {
            "reference": "Observation/mii-exa-molgen-untersuchte-region-1"
        }
    ]
}


Beispiel für das im vorherigen Beispiel referenzierte Device

{
    "resourceType": "Device",
    "id": "mii-exa-molgen-device-sequencer",
    "status": "active",
    "manufacturer": "Illumina",
    "deviceName":  [
        {
            "name": "MiSeq",
            "type": "manufacturer-name"
        }
    ]
}


Beispiel 2: Variante NIPBL

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-variante-2",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "69548-6",
                "display": "Genetic variant assessment"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:28862",
                        "system": "http://www.genenames.org/geneId",
                        "display": "NIPBL"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "51958-7"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_133433.4",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "47999-8",
                        "system": "http://loinc.org",
                        "display": "DNA region name [Identifier]"
                    }
                ]
            },
            "valueString": "Exon #10"
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48004-6",
                        "display": "DNA change (c.HGVS)"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_133433.4:c.2207del",
                        "system": "http://varnomen.hgvs.org"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48005-3",
                        "display": "Amino acid change (pHGVS)"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "p.(Pro736Glnfs*58)",
                        "system": "http://varnomen.hgvs.org"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "53034-5",
                        "display": "Allelic state"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA6706-1",
                        "system": "http://loinc.org",
                        "display": "Heterozygous"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48019-4",
                        "display": "DNA change type"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "SO:0000159",
                        "system": "http://sequenceontology.org",
                        "display": "deletion"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48006-1",
                        "display": "Amino acid change [Type]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA6694-9",
                        "system": "http://loinc.org",
                        "display": "Frameshift"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48001-2",
                        "display": "Cytogenetic (chromosome) location"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "5p13.2",
                        "system": "urn:oid:2.16.840.1.113883.6.335"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81252-9",
                        "display": "Discrete genetic variant"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "1076298",
                        "system": "http://www.ncbi.nlm.nih.gov/clinvar"
                    },
                    {
                        "code": "VCV001076298.1",
                        "system": "http://www.ncbi.nlm.nih.gov/clinvar"
                    }
                ]
            }
        }
    ],
    "basedOn":  [
        {
            "reference": "ServiceRequest/mii-exa-molgen-anforderung-2"
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "valueCodeableConcept": {
        "coding":  [
            {
                "code": "LA9633-4",
                "system": "http://loinc.org",
                "display": "Present"
            }
        ]
    },
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            },
            {
                "code": "86206-0",
                "system": "http://loinc.org",
                "display": "Whole genome sequence analysis in Blood or Tissue by Molecular genetics method"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-2"
    }
}


Beispiel für das im vorherigen Beispiel 2 referenzierte Device

{
    "resourceType": "Device",
    "id": "mii-exa-molgen-device-sequencer-2",
    "status": "active",
    "manufacturer": "Illumina",
    "deviceName":  [
        {
            "name": "NovaSeq 6000-Sequencer",
            "type": "manufacturer-name"
        }
    ]
}


Beispiel 3: Copy Number Variant im SMO Gen

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-variante-cnv-4",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "69548-6",
                "display": "Genetic variant assessment"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:11119",
                        "system": "http://www.genenames.org/geneId",
                        "display": "SMO"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48019-4"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "SO:0001742",
                        "system": "http://sequenceontology.org",
                        "display": "copy_number_gain"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "82155-3"
                    }
                ]
            },
            "valueQuantity": {
                "value": 6,
                "code": "1",
                "system": "http://unitsofmeasure.org",
                "unit": "1"
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "47999-8",
                        "system": "http://loinc.org"
                    }
                ]
            },
            "valueString": "Ex 1-10"
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48000-4"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA21260-7",
                        "system": "http://loinc.org",
                        "display": "Chromosome 7"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48001-2"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "7q32.1",
                        "system": "urn:oid:2.16.840.1.113883.6.335"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81258-6"
                    }
                ]
            },
            "valueQuantity": {
                "value": 55,
                "code": "%",
                "system": "http://unitsofmeasure.org",
                "unit": "%"
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                        "code": "molecular-consequence"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "SO:0001458",
                        "system": "http://sequenceontology.org",
                        "display": "unigene_cluster"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "87706-8",
                        "system": "http://loinc.org"
                    }
                ]
            },
            "valueQuantity": {
                "value": 95,
                "comparator": ">",
                "unit": "%",
                "system": "http://unitsofmeasure.org",
                "code": "%"
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "valueCodeableConcept": {
        "coding":  [
            {
                "code": "LA9633-4",
                "system": "http://loinc.org",
                "display": "Present"
            }
        ]
    },
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ],
        "text": "Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX"
    }
}


Beispiel 4: Variante BRCA1

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-variante-brca1",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "69548-6",
                "display": "Genetic variant assessment"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:1100",
                        "system": "http://www.genenames.org/geneId",
                        "display": "BRCA1"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48001-2"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "17q21.31",
                        "system": "urn:oid:2.16.840.1.113883.6.335"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48004-6"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_007294.3:c.5266dupC",
                        "system": "http://varnomen.hgvs.org"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "51958-7"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_007294.3",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48019-4"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "SO:1000035",
                        "system": "http://sequenceontology.org",
                        "display": "duplication"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "82121-5"
                    }
                ]
            },
            "valueQuantity": {
                "value": 50,
                "code": "1",
                "system": "http://unitsofmeasure.org",
                "unit": "Abdeckung der Fragmente"
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81252-9"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "rs80357906",
                        "system": "http://www.ncbi.nlm.nih.gov/projects/SNP"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48000-4"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA21270-6",
                        "system": "http://loinc.org",
                        "display": "Chromosome 17"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48005-3"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "p.Gln1756Profs",
                        "system": "http://varnomen.hgvs.org"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48006-1"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA6694-9",
                        "system": "http://loinc.org",
                        "display": "Frameshift"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "87706-8",
                        "system": "http://loinc.org"
                    }
                ]
            },
            "valueQuantity": {
                "value": 95,
                "comparator": ">",
                "unit": "%",
                "system": "http://unitsofmeasure.org",
                "code": "%"
            }
        }
    ],
    "basedOn":  [
        {
            "reference": "ServiceRequest/mii-exa-molgen-anforderung-trurisk-panel"
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-brca1"
    },
    "valueCodeableConcept": {
        "coding":  [
            {
                "code": "LA9633-4",
                "system": "http://loinc.org",
                "display": "Present"
            }
        ]
    },
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-brca1"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-nextseq"
    }
}