Untersuchte Region - Observation


Beschreibung

Dies sind Beobachtungen, die die Region oder die Regionen beschreiben, die im Rahmen dieses Befundberichts untersucht wurden.

NameCanonical
MII_PR_MolGen_UntersuchteRegionhttps://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region

Das Profil ist abgeleitet vom Profil Region Studied 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..*Coding
textΣ0..1string
codeS Σ1..1CodeableConcept
subjectS Σ I1..1MII-Reference(Patient | Group)
focusΣ I0..*Reference(Resource)
encounterS Σ I0..1Reference(Encounter)
effectiveDateTimedateTime
effectivePeriodPeriod
effectiveTimingTiming
effectiveInstantinstant
issuedΣ0..1instant
performerΣ I0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
note0..*Coded Annotation
bodySite0..1CodeableConcept
method0..1CodeableConcept
specimenI0..1Reference(Specimen)
deviceI0..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..1CodeableConcept
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
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..*Coding
textΣ0..1string
codeS Σ1..1CodeableConcept
subjectS Σ I1..1MII-Reference(Patient | Group)
focusΣ I0..*Reference(Resource)
encounterS Σ I0..1Reference(Encounter)
effectiveDateTimedateTime
effectivePeriodPeriod
effectiveTimingTiming
effectiveInstantinstant
issuedΣ0..1instant
performerΣ I0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
note0..*Coded Annotation
bodySite0..1CodeableConcept
method0..1CodeableConcept
specimenI0..1Reference(Specimen)
deviceI0..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..1CodeableConcept
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueStringstring
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueQuantityQuantity
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueRangeRange
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
codeΣ1..1CodeableConcept
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)


FHIR-Element Logischer Datensatz
Observation
Observation.component:gene-studied Methoden.Getestete Gene
Observation.component:region-coverage Methoden.Read depth/Coverage
Observation.component:genomic-ref-seq Methoden.Referenzsequenz

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: BRAF

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-1",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "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": "36908-2",
                        "display": "Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_004333.4:c.1799T>A",
                        "system": "http://varnomen.hgvs.org"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "BRAF: Exon 15 (Codon 600)"
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "51959-5",
                        "display": "Range(s) of DNA sequence examined"
                    }
                ]
            },
            "valueRange": {
                "low": {
                    "value": 15,
                    "code": "{Exon}",
                    "system": "http://unitsofmeasure.org",
                    "unit": "Exon"
                },
                "high": {
                    "value": 15,
                    "code": "{Exon}",
                    "system": "http://unitsofmeasure.org",
                    "unit": "Exon"
                }
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "51959-5",
                        "display": "Range(s) of DNA sequence examined"
                    }
                ]
            },
            "valueRange": {
                "low": {
                    "value": 582,
                    "code": "{Codon}",
                    "system": "http://unitsofmeasure.org",
                    "unit": "Codon"
                },
                "high": {
                    "value": 612,
                    "code": "{Codon}",
                    "system": "http://unitsofmeasure.org",
                    "unit": "Codon"
                }
            }
        },
        {
            "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"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "mii-exa-molgen-specimen-1"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer"
    }
}


Beispiel 2: NIPBL

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-2-nipbl",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "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": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "Analyse aller kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8)."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48013-7",
                        "display": "Genomic reference sequence [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_133433.4",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-2"
    }
}


Beispiel 2: HDAC8

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-2-hdac8",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                        "code": "conclusion-string"
                    }
                ]
            },
            "valueString": "Keine pathogene Variante identifiziert."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:13315",
                        "system": "http://www.genenames.org/geneId",
                        "display": "HDAC8"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "Analyse aller kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8)."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48013-7",
                        "display": "Genomic reference sequence [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_078486.2",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-2"
    }
}


Beispiel 2: RAD21

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-2-rad21",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                        "code": "conclusion-string"
                    }
                ]
            },
            "valueString": "Keine pathogene Variante identifiziert."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:9811",
                        "system": "http://www.genenames.org/geneId",
                        "display": "RAD21"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "Analyse aller kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8)."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48013-7",
                        "display": "Genomic reference sequence [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_006265.2",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-2"
    }
}


Beispiel 2: SMC1A

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-2-smc1a",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                        "code": "conclusion-string"
                    }
                ]
            },
            "valueString": "Keine pathogene Variante identifiziert."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:11111",
                        "system": "http://www.genenames.org/geneId",
                        "display": "SMC1A"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "Analyse aller kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8)."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48013-7",
                        "display": "Genomic reference sequence [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_006306.3",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-2"
    }
}


Beispiel 2: SMC3

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-2-smc3",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                        "code": "conclusion-string"
                    }
                ]
            },
            "valueString": "Keine pathogene Variante identifiziert."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:2468",
                        "system": "http://www.genenames.org/geneId",
                        "display": "SMC3"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "Analyse aller kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8)."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48013-7",
                        "display": "Genomic reference sequence [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_005445.3",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-2"
    }
}


Beispiel 2: TP63

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-2-tp63",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "code": "laboratory",
                    "display": "Laboratory"
                }
            ]
        }
    ],
    "component":  [
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
                        "code": "conclusion-string"
                    }
                ]
            },
            "valueString": "Keine pathogene Variante identifiziert."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48018-6",
                        "display": "Gene studied [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "HGNC:15979",
                        "system": "http://www.genenames.org/geneId",
                        "display": "TP63"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "Analyse aller kodierenden Exons der zu untersuchenden Gene einschließlich flankierender intronischer Regionen (mindestens von -3 bis +8)."
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "48013-7",
                        "display": "Genomic reference sequence [ID]"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_003722.4",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-2"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "method": {
        "coding":  [
            {
                "code": "LA26398-0",
                "system": "http://loinc.org",
                "display": "Sequencing"
            }
        ]
    },
    "specimen": {
        "reference": "Specimen/mii-exa-molgen-specimen-2"
    },
    "device": {
        "reference": "Device/mii-exa-molgen-device-sequencer-2"
    }
}


Beispiel 4: TP53 aus Risk-Panel Befund

{
    "resourceType": "Observation",
    "id": "mii-exa-molgen-untersuchte-region-true-risk-panel-v3-TP53",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/untersuchte-region",
            "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/region-studied"
        ]
    },
    "code": {
        "coding":  [
            {
                "system": "http://loinc.org",
                "code": "53041-0",
                "display": "DNA region of interest panel"
            }
        ]
    },
    "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:11998",
                        "system": "http://www.genenames.org/geneId",
                        "display": "TP53"
                    }
                ]
            }
        },
        {
            "code": {
                "coding":  [
                    {
                        "system": "http://loinc.org",
                        "code": "81293-3",
                        "display": "Description of ranges of DNA sequences examined"
                    }
                ]
            },
            "valueString": "direkte Sequenzierung der codierenden Exons inkl. flankierender intronischer Bereiche"
        },
        {
            "code": {
                "coding":  [
                    {
                        "code": "51958-7",
                        "system": "http://loinc.org"
                    }
                ]
            },
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "NM_000546.5",
                        "system": "http://www.ncbi.nlm.nih.gov/refseq"
                    }
                ]
            }
        }
    ],
    "status": "final",
    "subject": {
        "reference": "Patient/mii-exa-molgen-patient-brca1"
    },
    "performer":  [
        {
            "reference": "Practitioner/mii-exa-molgen-practitioner-lab"
        }
    ],
    "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"
    }
}