Bundle mii-exa-befund-bundle-befund-srcc of type transaction

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

Resource Patient:

Language: en

Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

---

Deceased:	false
Contact Detail	10 DE

Request:

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

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

Resource Practitioner:

Language: en

active: true

name: Dr. Daniel Schmidt(Official)

Request:

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

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

Resource Practitioner:

Language: en

active: true

name: Dr. Linda Rubens(Official)

Request:

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

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

Resource Specimen:

Language: en

Profile: MII PR Biobank Specimen Bioprobe Core

identifier: https://www.charite.de/fhir/sid/bioproben/00070024

status: Available

type: Blood specimen with edetic acid (specimen)

subject: Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

receivedTime: 2022-11-30

Collections

-	Collected[x]
*	2022-11-30

Request:

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

Entry 5 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-specimen-srcc-2

Resource Specimen:

Language: en

Profile: MII PR Biobank Specimen Bioprobe Core

identifier: https://www.charite.de/fhir/sid/bioproben/00070025

status: Available

type: Blood specimen with edetic acid (specimen)

subject: Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

receivedTime: 2022-11-30

Collections

-	Collected[x]
*	2022-11-30

Request:

PUT Specimen/mii-exa-molgen-specimen-srcc-2

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

Resource DiagnosticReport:

Language: en

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

Genetic analysis report (Genetics)

Subject	Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))
Performer	Practitioner Dr. Daniel Schmidt(official)

Report Details

Code	Value	Flags	Relevant Time
Diagnostic Implication		Final	2022-11-30
Genetic variant assessment	Present	Final	2022-11-30

Nachweis der pathogenen Variante im CTNNA1-Gen.

Request:

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

Entry 7 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-srcc

Resource ServiceRequest:

Language: en

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

identifier: https://www.charite.de/fhir/auftragsnummern/7B369EB0

status: Active

intent: Order

category: Laboratory procedure (procedure)

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

subject: Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

authoredOn: 2022-11-30

requester: Practitioner Dr. Linda Rubens(official)

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#00070024; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2022-11-30

Request:

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

Entry 8 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer

Resource Device:

Language: en

status: Active

manufacturer: Illumina

Request:

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

Entry 9 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-srcc-ctnna1

Resource Observation:

Language: en

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: Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

effective: 2022-11-30

value: Present

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#00070024; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2022-11-30

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: CTNNA1

component

code: Transcript reference sequence [ID]

value: NM_001903.5

component

code: DNA change (c.HGVS)

value: NM_001903.5:c.1030del

component

code: Genomic DNA change (gHGVS)

value: NC_000005.9:g.138163372del

component

code: Genomic reference sequence [ID]

value: NC_000005.9

component

code: Amino acid change (pHGVS)

value: p.(Leu344CysfsTer25)

component

code: Allelic state

value: Heterozygous

component

code: DNA change type

value: Deletion

component

code: Cytogenetic (chromosome) location

value: 5q31.2

Request:

PUT Observation/mii-exa-molgen-variante-srcc-ctnna1

Entry 10 - fullUrl = https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1

Resource Observation:

Language: en

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

Related artifact: No display for RelatedArtifact (type: citation; citation: ClinGen; document: )

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

effective: 2022-11-30

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Diese Variante wird nach den ACMG/AMP-Kriterien zusammenfasssend als pathogen bewertet entsprechend IARC Class 5.

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Associated phenotype

value: Hereditary diffuse carcinoma of stomach (disorder)

Request:

PUT Observation/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1