Bundle mii-exa-befund-bundle-1-braf of type transaction

Entry 1 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-befundbericht-1

Resource DiagnosticReport:

Language: de

Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0

Genetic analysis report (Genetics)

Subject	Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))
Performer	Practitioner Dr. Daniel Schmidt(official)

Report Details

Code	Value	Flags	Relevant Time
Diagnostic Implication		Final	2022-04-07
Therapeutic Implication		Final	2022-04-07
Genetic variant assessment	Present	Final	2022-04-07
Genotype display name	BRAF rs113488022 T>A	Final	2022-04-07
Mutations/Megabase [# Ratio] in Tumor	12 Mutations/Megabase (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')	Final
Microsatellite instability [Interpretation] in Cancer specimen Qualitative	Stable	Final

BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen.

Request:

PUT DiagnosticReport/mii-exa-molgen-befundbericht-1

Entry 2 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-medikationsempfehlung-1

Resource Task:

Language: de

Profiles: MII PR MolGen Medikationsempfehlung version: 2027.0.0-ballot.1, Medication Recommendation version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Requested

intent: Proposal

code: Alternative Medikation in Erwägung ziehen

for: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

Request:

PUT Task/mii-exa-molgen-medikationsempfehlung-1

Entry 3 - fullUrl = https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-folgemassnahme-1

Resource Task:

Language: de

Profiles: MII PR MolGen Empfohlene Folgemaßnahme version: 2027.0.0-ballot.1, Followup Recommendation version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Requested

intent: Proposal

code: Genetic counseling recommended

description: Genetische Beratung empfohlen mit Dr. Rosalind Franklin

for: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

Request:

PUT Task/mii-exa-molgen-folgemassnahme-1

Entry 4 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-family-member-history-1

Resource FamilyMemberHistory:

Language: de

Profile: MII PR MolGen Familienanamnese version: 2027.0.0-ballot.1

status: Completed

patient: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

date: 2022-04-07

relationship: Mother (person)

sex: Female (finding)

deceased: true

Conditions

-	Code	ContributedToDeath
*	Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder)	true

Request:

PUT FamilyMemberHistory/mii-exa-molgen-family-member-history-1

Entry 5 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-1

Resource ServiceRequest:

Language: de

Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1

status: Active

intent: Order

category: Laboratory procedure (procedure)

code: No display for ServiceRequest.code (concept: Molecular genetic test (procedure))

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

authoredOn: 2022-04-07

requester: Practitioner Dr. Linda Rubens(official)

supportingInfo: No display for ServiceRequest.supportingInfo (reference: ->FamilyMemberHistory: status = completed; date = 2022-04-07; relationship = Mother (person); sex = Female (finding); deceased[x] = true; reasonCode = Adenocarcinoma of anorectum (disorder))

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

Request:

PUT ServiceRequest/mii-exa-molgen-anforderung-1

Entry 6 - fullUrl = https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-patient

Resource Patient:

Language: de

Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

---

Deceased:	false
Other Ids:	Gesetzliche Krankenversicherung/Z234567890 (use: official, ) Private Krankenversicherung/123456 (use: secondary, )
Alt. Name:	Haffer (Name changed for Marriage)
Contact Detail	Anna-Louisa-Karsch Str. 2 Berlin DE-BE 10178 DE

Request:

PUT Patient/mii-exa-molgen-patient

Entry 7 - fullUrl = https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-practitioner-lab

Resource Practitioner:

Language: de

active: true

name: Dr. Daniel Schmidt(Official)

Request:

PUT Practitioner/mii-exa-molgen-practitioner-lab

Entry 8 - fullUrl = https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-specimen-1

Resource Specimen:

Language: de

Profile: MII PR Biobank Specimen Bioprobe Core

identifier: https://biobank.uk-musterstadt.de/fhir/sid/proben/5432

status: Available

type: Tissue specimen from colon (specimen)

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

Collections

-	Collected[x]	BodySite
*	2022-03-24 12:44:00+0100	No display for Specimen.collection.bodySite (concept: Colon structure (body structure))

Request:

PUT Specimen/mii-exa-molgen-specimen-1

Entry 9 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-1

Resource Observation:

Language: de

Profiles: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1, Diagnostic Implication version: 3.0.0

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

Components

-	Code	Value[x]
*	Conclusion Text	Nachweis einer aktivierenden Mutation BRAF V600E

Request:

PUT Observation/mii-exa-molgen-diagnostische-implikation-1

Entry 10 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-therapeutische-implikation-1

Resource Observation:

Language: de

Profiles: MII PR MolGen Therapeutische Implikation version: 2027.0.0-ballot.1, Therapeutic Implication version: 3.0.0

status: Final

category: Laboratory, Genetics

code: Therapeutic Implication

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Nachweis einer aktivierenden Mutation BRAF V600E. Triple-Therapie mit einem EGFR-Antikörper sowie einem BRAF- und einem MEK- Inhibitor prüfen.

component

code: Medication assessed [ID]

value: BRAF Inhibitor

component

code: Medication assessed [ID]

value: EGFR (Epidermal Growth Factor Receptor) inhibitors

component

code: Medication assessed [ID]

value: Mitogen-activated protein kinase (MEK) inhibitors

Request:

PUT Observation/mii-exa-molgen-therapeutische-implikation-1

Entry 11 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-1

Resource Observation:

Language: de

Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

value: Present

method: Sequencing

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: BRAF

component

code: Genomic reference sequence [ID]

value: NM_004333.4

component

code: DNA region name [Identifier]

value: Exon #15

component

code: DNA region name [Identifier]

value: Codon #582 - #612

component

code: DNA change (c.HGVS)

value: NM_004333.4:c.1799T>A

component

code: Amino acid change (pHGVS)

value: p.(Val600Glu)

component

code: Sample variant allelic frequency [NFr]

value: 30.25 % (Details: UCUM code% = '%')

component

code: Cytogenetic (chromosome) location

value: 7q34

component

code: DNA change type

value: point_mutation

component

code: Discrete genetic variant

value: rs113488022

Request:

PUT Observation/mii-exa-molgen-variante-1

Entry 12 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-genotyp-1

Resource Observation:

Language: de

Profiles: MII PR MolGen Genotyp version: 2027.0.0-ballot.1, Genotype version: 3.0.0

status: Final

category: Laboratory, Genetics

code: Genotype display name

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

value: BRAF rs113488022 T>A

method: Sequencing

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

device: Device: status = active; manufacturer = Illumina

derivedFrom: Observation Genetic variant assessment

component

code: Gene studied [ID]

value: BRAF

component

code: Cytogenetic (chromosome) location

value: 7q34

Request:

PUT Observation/mii-exa-molgen-genotyp-1

Entry 13 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-mutationslast-1

Resource Observation:

Language: de

Profiles: MII PR MolGen Mutationslast version: 2027.0.0-ballot.1, Molecular Biomarker version: 3.0.0

status: Final

category: Laboratory, A characterization of a given biomarker observation.

code: Mutations/Megabase [# Ratio] in Tumor

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

performer: Practitioner Dr. Daniel Schmidt(official)

value: 12 Mutations/Megabase (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

Request:

PUT Observation/mii-exa-molgen-mutationslast-1

Entry 14 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer

Resource Device:

Language: de

status: Active

manufacturer: Illumina

Request:

PUT Device/mii-exa-molgen-device-sequencer

Entry 15 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-physician

Resource Practitioner:

Language: de

active: true

name: Dr. Linda Rubens(Official)

Request:

PUT Practitioner/mii-exa-molgen-practitioner-physician

Entry 16 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-mikrosatelliteninstabilitaet-1

Resource Observation:

Language: de

Profiles: MII PR MolGen Mikrosatelliteninstabilität version: 2027.0.0-ballot.1, Molecular Biomarker version: 3.0.0

status: Final

category: Laboratory, A characterization of a given biomarker observation.

code: Microsatellite instability [Interpretation] in Cancer specimen Qualitative

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

value: Stable

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

Request:

PUT Observation/mii-exa-molgen-mikrosatelliteninstabilitaet-1