FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.mtb |
| Resource Type | Observation |
| Id | Observation-MII-EXA-MTB-Einfache-Variante.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-MTB-Einfache-Variante
Profile: MII PR MTB Einfache Variante version: 2027.0.0-ballot.1
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Maxim Muster (no stated gender), DoB Unknown
value: Present
method: Sequencing
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 17
component
code: Gene studied [ID]
value: BRAF
component
code: Transcript reference sequence [ID]
value: NM_133433.4
component
code: DNA region name [Identifier]
value: Exon #15
component
code: DNA region name [Identifier]
value: Codon #582 - #612
component
code: Genomic allele start-end
value: 43044295-43125364
component
code: DNA change (c.HGVS)
value: NM_004333.4:c.1799T>A
component
code: Amino acid change (pHGVS)
value: NP_004324.2:p.(Val600Glu)
component
code: Sample variant allelic frequency [NFr]
value: 30.25 % (Details: UCUM code% = '%')
component
code: Discrete genetic variant
value: rs113488022
German
Generated Narrative: Observation MII-EXA-MTB-Einfache-Variante
Profile: MII PR MTB Einfache Variante version: 2027.0.0-ballot.1
status: Final
category: Laboratory, Genetik
code: Genetic variant assessment
subject: Maxim Muster (no stated gender), DoB Unknown
value: Present
method: Sequencing
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 17
component
code: Gene studied [ID]
value: BRAF
component
code: Transcript reference sequence [ID]
value: NM_133433.4
component
code: DNA region name [Identifier]
value: Exon #15
component
code: DNA region name [Identifier]
value: Codon #582 - #612
component
code: Genomic allele start-end
value: 43044295-43125364
component
code: DNA change (c.HGVS)
value: NM_004333.4:c.1799T>A
component
code: Amino acid change (pHGVS)
value: NP_004324.2:p.(Val600Glu)
component
code: Sample variant allelic frequency [NFr]
value: 30.25 % (Details: UCUM code% = '%')
component
code: Discrete genetic variant
value: rs113488022
FHIR
FHIRsmith{
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"meta": {
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]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"status": "final",
"category": [
{
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"code": {
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"subject": {
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"valueCodeableConcept": {
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"component": [
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"valueCodeableConcept": {
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{
"code": {
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"valueCodeableConcept": {
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{
"code": {
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"display": "DNA region name [Identifier]"
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},
"valueString": "Exon #15"
},
{
"code": {
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"valueString": "Codon #582 - #612"
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{
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