FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Observation |
| Id | Observation-mii-exa-molgen-variante-brca1.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
English
Generated Narrative: Observation mii-exa-molgen-variante-brca1
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
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% = '%')
German
Generated Narrative: Observation mii-exa-molgen-variante-brca1
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, Genetik
code: Genetic variant assessment
subject: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Krankenaktennummer (use: usual, ))
effective: 2022-11-01
value: Present
method: Sequencing
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% = '%')
FHIR
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]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
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