FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Observation |
| Id | Observation-mii-exa-molgen-variante-cnv-4.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-cnv-4
Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))
effective: 2022-03-16
value: Present
method: Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX
component
code: Gene studied [ID]
value: SMO
component
code: DNA change type
value: copy_number_gain
component
code: Genomic structural variant copy number
value: 6 1 (Details: UCUM code1 = '1')
component
code: DNA region name [Identifier]
value: Ex 1-10
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 7
component
code: Cytogenetic (chromosome) location
value: 7q32.1
component
code: Sample variant allelic frequency [NFr]
value: 55 % (Details: UCUM code% = '%')
component
code: Laboratory device Detection limit
value: >95 % (Details: UCUM code% = '%')
German
Generated Narrative: Observation mii-exa-molgen-variante-cnv-4
Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0
status: Final
category: Laboratory, Genetik
code: Genetic variant assessment
subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))
effective: 2022-03-16
value: Present
method: Analysepipeline XXX, Auswertungssoftware XXX, Prozessierungssystem XXX
component
code: Gene studied [ID]
value: SMO
component
code: DNA change type
value: copy_number_gain
component
code: Genomic structural variant copy number
value: 6 1 (Details: UCUM code1 = '1')
component
code: DNA region name [Identifier]
value: Ex 1-10
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 7
component
code: Cytogenetic (chromosome) location
value: 7q32.1
component
code: Sample variant allelic frequency [NFr]
value: 55 % (Details: UCUM code% = '%')
component
code: Laboratory device Detection limit
value: >95 % (Details: UCUM code% = '%')
FHIR
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