MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Beispiel Bundle: mii-exa-molgen-bundle-fam-his-breast-ovar-can

Language: de

Bundle mii-exa-molgen-bundle-fam-his-breast-ovar-can of type transaction

Entry 1 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-patient-brca1

Resource Patient:

Language: de

Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))

Deceased:false
Other Id:Gesetzliche Krankenversicherung/Z977188448 (use: official, )
Contact DetailAnna-Louisa-Karsch Str. 2 Berlin DE-BE 10178 DE

Request:

PUT Patient/mii-exa-molgen-patient-brca1

Entry 2 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-befundbericht-trurisk-panel

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)

SubjectElisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Genetic variant assessmentPresentFinal2022-11-01
Diagnostic ImplicationFinal2022-11-01

Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt.

Request:

PUT DiagnosticReport/mii-exa-molgen-befundbericht-trurisk-panel

Entry 3 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-folgemassnahme-brca1

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: Eine genetische Beratung hinsichtlich einer gezielten Testung leiblicher Familienmitglieder wird empfohlen.

for: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))

Request:

PUT Task/mii-exa-molgen-folgemassnahme-brca1

Entry 4 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-prs-brca1

Resource RiskAssessment:

Language: de

Profile: MII PR MolGen Polygener Risiko Score version: 2027.0.0-ballot.1

status: Final

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

occurrence: 2022-11-01

basis: Observation Genetic variant assessment

Predictions

-ExtensionOutcomeQualitativeRisk
*Hereditary breast and ovarian cancer syndrome (disorder)High likelihood

Request:

PUT RiskAssessment/mii-exa-molgen-prs-brca1

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

Resource ServiceRequest:

Language: de

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

identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_03

status: Active

intent: Order

category: Laboratory procedure (procedure)

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

subject: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))

authoredOn: 2022-11-01

requester: Practitioner Dr. Linda Rubens(official)

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01

Request:

PUT ServiceRequest/mii-exa-molgen-anforderung-trurisk-panel

Entry 6 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-lab

Resource Practitioner:

Language: de

active: true

name: Dr. Daniel Schmidt(Official)

Request:

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

Entry 7 - 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 8 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-specimen-brca1

Resource Specimen:

identifier: https://www.charite.de/fhir/sid/bioproben/specimen_03

status: Available

type: Tissue specimen from breast (specimen)

subject: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))

receivedTime: 2022-11-01

Collections

-Collected[x]
*2022-11-01

Request:

PUT Specimen/mii-exa-molgen-specimen-brca1

Entry 9 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer-nextseq

Resource Device:

Language: de

status: Active

manufacturer: Illumina

Request:

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

Entry 10 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-brca1

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: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))

effective: 2022-11-01

value: Present

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: BRCA1

component

code: Cytogenetic (chromosome) location

value: 17q21.31

component

code: DNA change (c.HGVS)

value: NM_007294.3:c.5266dupC

component

code: Transcript reference sequence [ID]

value: NM_007294.3

component

code: DNA change type

value: Duplication

component

code: Allelic read depth

value: 50 Abdeckung der Fragmente (Details: UCUM code1 = '1')

component

code: Discrete genetic variant

value: rs80357906

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

value: Chromosome 17

component

code: Amino acid change (pHGVS)

value: p.Gln1756Profs

component

code: Laboratory device Detection limit

value: >95 % (Details: UCUM code% = '%')

Request:

PUT Observation/mii-exa-molgen-variante-brca1

Entry 11 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-brca1

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: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Medical record number (use: usual, ))

effective: 2022-11-01

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Breast carcinoma

component

code: Level of evidence

value: 2 star

Request:

PUT Observation/mii-exa-molgen-diagnostische-implikation-brca1