MII IG Kerndatensatz-Modul Molekulares Tumorboard
2027.0.0-ballot.1 - Germany

This page is part of the MII Implementation Guide Molecular Tumor Board (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

Logical Model: DNPM NGS Report

Official URL: https://dnpm-dip.net/fhir/StructureDefinition/dnpm-lm-ngs-report Version: 2027.0.0-ballot.1
Active as of 2026-09-15 Computable Name: DNPM_LM_NGSReport

Logical Model for a single entry in the DNPM DIP MTB Patient Record ngsReports array

Usages:

  • This Logical Model is not used by any profiles in this Specification

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots, and their representations.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. dnpm-lm-ngs-report 0..* Element DNPM NGS Report

Elements defined in Ancestors:@id, extension
... @id 0..1 string Unique id for inter-element referencing
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... dnpmId 1..1 string NGS Report UUID (DNPM internal ID)
.... @id 1..1 string Patient ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (Patient)
... specimen 1..1 BackboneElement Tumor specimen reference
.... @id 1..1 string Specimen ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (TumorSpecimen)
... issuedOn 1..1 string Report issue date (YYYY-MM-DD)
... type 1..1 BackboneElement NGS analysis type (e.g. exome, panel)
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... code 1..1 string Type code
.... display 0..1 string Type display
.... system 1..1 string Type system URI
... metadata 0..1 BackboneElement NGS run metadata
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... referenceGenome 0..1 BackboneElement Reference genome used
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Genome build code (e.g. GRCh38)
..... display 0..1 string Genome build display
..... system 1..1 string Genome build system URI
.... sequencer 0..1 BackboneElement Sequencer instrument
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Sequencer code
..... display 0..1 string Sequencer display
..... system 1..1 string Sequencer system URI
.... kitManufacturer 0..1 string Kit manufacturer name
.... kitType 0..1 string Kit type name
.... pipeline 0..1 string Bioinformatics pipeline identifier
.... tumorCellContent 0..1 BackboneElement Tumor cell content metadata estimate
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... method 0..1 BackboneElement Estimation method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
... results 1..1 BackboneElement NGS analysis results
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... tumorCellContent 0..1 BackboneElement Bioinformatically determined tumor cell content
..... @id 1..1 string Result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... method 1..1 BackboneElement Determination method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
.... tmb 0..1 BackboneElement Tumor Mutational Burden
..... @id 1..1 string TMB result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 BackboneElement TMB quantity
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 decimal Numeric TMB value
...... unit 1..1 string Unit (e.g. Mutations per megabase)
..... interpretation 0..1 BackboneElement TMB interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. high)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... brcaness 0..1 BackboneElement BRCAness score
..... @id 1..1 string BRCAness result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal BRCAness score (0.0 – 1.0)
..... confidenceRange 0..1 BackboneElement Confidence range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... min 1..1 decimal Minimum confidence value
...... max 1..1 decimal Maximum confidence value
.... hrdScore 0..1 BackboneElement Homologous Recombination Deficiency Score
..... @id 1..1 string HRD result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal HRD composite score
..... components 0..1 BackboneElement HRD component scores
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... lst 0..1 decimal Large-scale state transitions (LST)
...... loh 0..1 decimal Loss of heterozygosity (LOH)
...... tai 0..1 decimal Telomeric allelic imbalance (TAI)
..... interpretation 0..1 BackboneElement HRD interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. low)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... simpleVariants 0..* BackboneElement Simple variants (SNV / small indels)
..... @id 1..1 string Variant ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External variant identifiers (e.g. dbSNP rs-number)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... chromosome 1..1 string Chromosome (e.g. chr4)
..... gene 1..1 BackboneElement Affected gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... localization 0..* BackboneElement Variant localisation in gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... transcriptId 0..1 BackboneElement Transcript identifier
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Transcript ID value (e.g. ENST...)
...... system 1..1 string Transcript system URI
..... exonId 0..1 string Exon identifier
..... position 0..1 BackboneElement Genomic position (1-based)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Start position
...... end 0..1 integer End position
..... altAllele 1..1 string Alternate allele
..... refAllele 1..1 string Reference allele
..... dnaChange 0..1 string cDNA / DNA change in HGVS notation (e.g. c.570G>T)
..... proteinChange 0..1 string Protein change in HGVS notation (e.g. p.(Glu125Asp))
..... readDepth 0..1 integer Read depth at variant position
..... allelicFrequency 0..1 decimal Variant allelic frequency
..... interpretation 0..1 BackboneElement ClinVar / clinical interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... copyNumberVariants 0..* BackboneElement Copy number variants (CNV)
..... @id 1..1 string CNV ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... chromosome 1..1 string Chromosome (e.g. chr7)
..... localization 0..* BackboneElement CNV localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... startRange 0..1 BackboneElement Start position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... endRange 0..1 BackboneElement End position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... totalCopyNumber 0..1 integer Total copy number
..... relativeCopyNumber 0..1 decimal Relative copy number
..... cnA 0..1 integer Copy number allele A
..... cnB 0..1 integer Copy number allele B
..... reportedAffectedGenes 0..* BackboneElement Reported affected genes
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... focality 0..1 BackboneElement CNV focality
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Focality code (e.g. focal)
...... display 0..1 string Focality display
...... system 1..1 string Focality system URI
..... type 1..1 BackboneElement CNV type (gain / loss)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string CNV type code
...... display 0..1 string CNV type display
...... system 1..1 string CNV type system URI
.... dnaFusions 0..* BackboneElement DNA-level gene fusions
..... @id 1..1 string DNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... reportedNumReads 0..1 integer Number of reads supporting fusion
.... rnaFusions 0..* BackboneElement RNA-level gene fusions
..... @id 1..1 string RNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External identifiers (e.g. COSMIC fusion ID)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 5-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 3-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... effect 0..1 BackboneElement RNA fusion effect
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Effect code (e.g. in-frame)
...... display 0..1 string Effect display
...... system 1..1 string Effect system URI
..... reportedNumReads 0..1 integer Number of reads supporting fusion

doco Documentation for this format

Constraints

Id Grade Path(s) Description Expression
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. dnpm-lm-ngs-report 0..* Element DNPM NGS Report

Elements defined in Ancestors:@id, extension
... dnpmId 1..1 string NGS Report UUID (DNPM internal ID)
... patient 1..1 BackboneElement Patient reference
.... @id 1..1 string Patient ID
.... type 1..1 string Reference type (Patient)
... specimen 1..1 BackboneElement Tumor specimen reference
.... @id 1..1 string Specimen ID
.... type 1..1 string Reference type (TumorSpecimen)
... type 1..1 BackboneElement NGS analysis type (e.g. exome, panel)
.... code 1..1 string Type code
.... display 0..1 string Type display
.... system 1..1 string Type system URI
... metadata 0..1 BackboneElement NGS run metadata
.... referenceGenome 0..1 BackboneElement Reference genome used
..... code 1..1 string Genome build code (e.g. GRCh38)
..... display 0..1 string Genome build display
..... system 1..1 string Genome build system URI
.... sequencer 0..1 BackboneElement Sequencer instrument
..... code 1..1 string Sequencer code
..... display 0..1 string Sequencer display
..... system 1..1 string Sequencer system URI
.... kitManufacturer 0..1 string Kit manufacturer name
.... kitType 0..1 string Kit type name
.... pipeline 0..1 string Bioinformatics pipeline identifier
.... tumorCellContent 0..1 BackboneElement Tumor cell content metadata estimate
..... method 0..1 BackboneElement Estimation method
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
... results 1..1 BackboneElement NGS analysis results
.... tumorCellContent 0..1 BackboneElement Bioinformatically determined tumor cell content
..... @id 1..1 string Result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... method 1..1 BackboneElement Determination method
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
.... tmb 0..1 BackboneElement Tumor Mutational Burden
..... @id 1..1 string TMB result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... value 1..1 BackboneElement TMB quantity
...... value 1..1 decimal Numeric TMB value
...... unit 1..1 string Unit (e.g. Mutations per megabase)
..... interpretation 0..1 BackboneElement TMB interpretation
...... code 1..1 string Interpretation code (e.g. high)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... brcaness 0..1 BackboneElement BRCAness score
..... @id 1..1 string BRCAness result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... value 1..1 decimal BRCAness score (0.0 – 1.0)
..... confidenceRange 0..1 BackboneElement Confidence range
...... min 1..1 decimal Minimum confidence value
...... max 1..1 decimal Maximum confidence value
.... hrdScore 0..1 BackboneElement Homologous Recombination Deficiency Score
..... @id 1..1 string HRD result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... value 1..1 decimal HRD composite score
..... components 0..1 BackboneElement HRD component scores
...... lst 0..1 decimal Large-scale state transitions (LST)
...... loh 0..1 decimal Loss of heterozygosity (LOH)
...... tai 0..1 decimal Telomeric allelic imbalance (TAI)
..... interpretation 0..1 BackboneElement HRD interpretation
...... code 1..1 string Interpretation code (e.g. low)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... simpleVariants 0..* BackboneElement Simple variants (SNV / small indels)
..... @id 1..1 string Variant ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External variant identifiers (e.g. dbSNP rs-number)
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... chromosome 1..1 string Chromosome (e.g. chr4)
..... gene 1..1 BackboneElement Affected gene
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... localization 0..* BackboneElement Variant localisation in gene
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... transcriptId 0..1 BackboneElement Transcript identifier
...... value 1..1 string Transcript ID value (e.g. ENST...)
...... system 1..1 string Transcript system URI
..... exonId 0..1 string Exon identifier
..... position 0..1 BackboneElement Genomic position (1-based)
...... start 1..1 integer Start position
...... end 0..1 integer End position
..... altAllele 1..1 string Alternate allele
..... refAllele 1..1 string Reference allele
..... dnaChange 0..1 string cDNA / DNA change in HGVS notation (e.g. c.570G>T)
..... proteinChange 0..1 string Protein change in HGVS notation (e.g. p.(Glu125Asp))
..... readDepth 0..1 integer Read depth at variant position
..... allelicFrequency 0..1 decimal Variant allelic frequency
..... interpretation 0..1 BackboneElement ClinVar / clinical interpretation
...... code 1..1 string Interpretation code
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... copyNumberVariants 0..* BackboneElement Copy number variants (CNV)
..... @id 1..1 string CNV ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... chromosome 1..1 string Chromosome (e.g. chr7)
..... localization 0..* BackboneElement CNV localisation
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... startRange 0..1 BackboneElement Start position range
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... endRange 0..1 BackboneElement End position range
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... totalCopyNumber 0..1 integer Total copy number
..... relativeCopyNumber 0..1 decimal Relative copy number
..... cnA 0..1 integer Copy number allele A
..... cnB 0..1 integer Copy number allele B
..... reportedAffectedGenes 0..* BackboneElement Reported affected genes
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... focality 0..1 BackboneElement CNV focality
...... code 1..1 string Focality code (e.g. focal)
...... display 0..1 string Focality display
...... system 1..1 string Focality system URI
..... type 1..1 BackboneElement CNV type (gain / loss)
...... code 1..1 string CNV type code
...... display 0..1 string CNV type display
...... system 1..1 string CNV type system URI
.... dnaFusions 0..* BackboneElement DNA-level gene fusions
..... @id 1..1 string DNA fusion ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... localization 0..* BackboneElement Fusion localisation
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... gene 1..1 BackboneElement 5-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... gene 1..1 BackboneElement 3-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... reportedNumReads 0..1 integer Number of reads supporting fusion
.... rnaFusions 0..* BackboneElement RNA-level gene fusions
..... @id 1..1 string RNA fusion ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External identifiers (e.g. COSMIC fusion ID)
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... localization 0..* BackboneElement Fusion localisation
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... gene 1..1 BackboneElement 5-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 5-prime transcript
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... gene 1..1 BackboneElement 3-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 3-prime transcript
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... effect 0..1 BackboneElement RNA fusion effect
...... code 1..1 string Effect code (e.g. in-frame)
...... display 0..1 string Effect display
...... system 1..1 string Effect system URI
..... reportedNumReads 0..1 integer Number of reads supporting fusion

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. dnpm-lm-ngs-report 0..* Element DNPM NGS Report

Elements defined in Ancestors:@id, extension
... @id 0..1 string Unique id for inter-element referencing
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... dnpmId 1..1 string NGS Report UUID (DNPM internal ID)
.... @id 1..1 string Patient ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (Patient)
... specimen 1..1 BackboneElement Tumor specimen reference
.... @id 1..1 string Specimen ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (TumorSpecimen)
... issuedOn 1..1 string Report issue date (YYYY-MM-DD)
... type 1..1 BackboneElement NGS analysis type (e.g. exome, panel)
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... code 1..1 string Type code
.... display 0..1 string Type display
.... system 1..1 string Type system URI
... metadata 0..1 BackboneElement NGS run metadata
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... referenceGenome 0..1 BackboneElement Reference genome used
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Genome build code (e.g. GRCh38)
..... display 0..1 string Genome build display
..... system 1..1 string Genome build system URI
.... sequencer 0..1 BackboneElement Sequencer instrument
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Sequencer code
..... display 0..1 string Sequencer display
..... system 1..1 string Sequencer system URI
.... kitManufacturer 0..1 string Kit manufacturer name
.... kitType 0..1 string Kit type name
.... pipeline 0..1 string Bioinformatics pipeline identifier
.... tumorCellContent 0..1 BackboneElement Tumor cell content metadata estimate
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... method 0..1 BackboneElement Estimation method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
... results 1..1 BackboneElement NGS analysis results
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... tumorCellContent 0..1 BackboneElement Bioinformatically determined tumor cell content
..... @id 1..1 string Result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... method 1..1 BackboneElement Determination method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
.... tmb 0..1 BackboneElement Tumor Mutational Burden
..... @id 1..1 string TMB result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 BackboneElement TMB quantity
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 decimal Numeric TMB value
...... unit 1..1 string Unit (e.g. Mutations per megabase)
..... interpretation 0..1 BackboneElement TMB interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. high)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... brcaness 0..1 BackboneElement BRCAness score
..... @id 1..1 string BRCAness result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal BRCAness score (0.0 – 1.0)
..... confidenceRange 0..1 BackboneElement Confidence range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... min 1..1 decimal Minimum confidence value
...... max 1..1 decimal Maximum confidence value
.... hrdScore 0..1 BackboneElement Homologous Recombination Deficiency Score
..... @id 1..1 string HRD result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal HRD composite score
..... components 0..1 BackboneElement HRD component scores
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... lst 0..1 decimal Large-scale state transitions (LST)
...... loh 0..1 decimal Loss of heterozygosity (LOH)
...... tai 0..1 decimal Telomeric allelic imbalance (TAI)
..... interpretation 0..1 BackboneElement HRD interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. low)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... simpleVariants 0..* BackboneElement Simple variants (SNV / small indels)
..... @id 1..1 string Variant ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External variant identifiers (e.g. dbSNP rs-number)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... chromosome 1..1 string Chromosome (e.g. chr4)
..... gene 1..1 BackboneElement Affected gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... localization 0..* BackboneElement Variant localisation in gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... transcriptId 0..1 BackboneElement Transcript identifier
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Transcript ID value (e.g. ENST...)
...... system 1..1 string Transcript system URI
..... exonId 0..1 string Exon identifier
..... position 0..1 BackboneElement Genomic position (1-based)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Start position
...... end 0..1 integer End position
..... altAllele 1..1 string Alternate allele
..... refAllele 1..1 string Reference allele
..... dnaChange 0..1 string cDNA / DNA change in HGVS notation (e.g. c.570G>T)
..... proteinChange 0..1 string Protein change in HGVS notation (e.g. p.(Glu125Asp))
..... readDepth 0..1 integer Read depth at variant position
..... allelicFrequency 0..1 decimal Variant allelic frequency
..... interpretation 0..1 BackboneElement ClinVar / clinical interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... copyNumberVariants 0..* BackboneElement Copy number variants (CNV)
..... @id 1..1 string CNV ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... chromosome 1..1 string Chromosome (e.g. chr7)
..... localization 0..* BackboneElement CNV localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... startRange 0..1 BackboneElement Start position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... endRange 0..1 BackboneElement End position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... totalCopyNumber 0..1 integer Total copy number
..... relativeCopyNumber 0..1 decimal Relative copy number
..... cnA 0..1 integer Copy number allele A
..... cnB 0..1 integer Copy number allele B
..... reportedAffectedGenes 0..* BackboneElement Reported affected genes
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... focality 0..1 BackboneElement CNV focality
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Focality code (e.g. focal)
...... display 0..1 string Focality display
...... system 1..1 string Focality system URI
..... type 1..1 BackboneElement CNV type (gain / loss)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string CNV type code
...... display 0..1 string CNV type display
...... system 1..1 string CNV type system URI
.... dnaFusions 0..* BackboneElement DNA-level gene fusions
..... @id 1..1 string DNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... reportedNumReads 0..1 integer Number of reads supporting fusion
.... rnaFusions 0..* BackboneElement RNA-level gene fusions
..... @id 1..1 string RNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External identifiers (e.g. COSMIC fusion ID)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 5-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 3-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... effect 0..1 BackboneElement RNA fusion effect
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Effect code (e.g. in-frame)
...... display 0..1 string Effect display
...... system 1..1 string Effect system URI
..... reportedNumReads 0..1 integer Number of reads supporting fusion

doco Documentation for this format

Constraints

Id Grade Path(s) Description Expression
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Summary

Mandatory: 2 elements(133 nested mandatory elements)

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. dnpm-lm-ngs-report 0..* Element DNPM NGS Report

Elements defined in Ancestors:@id, extension
... @id 0..1 string Unique id for inter-element referencing
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... dnpmId 1..1 string NGS Report UUID (DNPM internal ID)
.... @id 1..1 string Patient ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (Patient)
... specimen 1..1 BackboneElement Tumor specimen reference
.... @id 1..1 string Specimen ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (TumorSpecimen)
... issuedOn 1..1 string Report issue date (YYYY-MM-DD)
... type 1..1 BackboneElement NGS analysis type (e.g. exome, panel)
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... code 1..1 string Type code
.... display 0..1 string Type display
.... system 1..1 string Type system URI
... metadata 0..1 BackboneElement NGS run metadata
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... referenceGenome 0..1 BackboneElement Reference genome used
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Genome build code (e.g. GRCh38)
..... display 0..1 string Genome build display
..... system 1..1 string Genome build system URI
.... sequencer 0..1 BackboneElement Sequencer instrument
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Sequencer code
..... display 0..1 string Sequencer display
..... system 1..1 string Sequencer system URI
.... kitManufacturer 0..1 string Kit manufacturer name
.... kitType 0..1 string Kit type name
.... pipeline 0..1 string Bioinformatics pipeline identifier
.... tumorCellContent 0..1 BackboneElement Tumor cell content metadata estimate
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... method 0..1 BackboneElement Estimation method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
... results 1..1 BackboneElement NGS analysis results
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... tumorCellContent 0..1 BackboneElement Bioinformatically determined tumor cell content
..... @id 1..1 string Result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... method 1..1 BackboneElement Determination method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
.... tmb 0..1 BackboneElement Tumor Mutational Burden
..... @id 1..1 string TMB result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 BackboneElement TMB quantity
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 decimal Numeric TMB value
...... unit 1..1 string Unit (e.g. Mutations per megabase)
..... interpretation 0..1 BackboneElement TMB interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. high)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... brcaness 0..1 BackboneElement BRCAness score
..... @id 1..1 string BRCAness result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal BRCAness score (0.0 – 1.0)
..... confidenceRange 0..1 BackboneElement Confidence range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... min 1..1 decimal Minimum confidence value
...... max 1..1 decimal Maximum confidence value
.... hrdScore 0..1 BackboneElement Homologous Recombination Deficiency Score
..... @id 1..1 string HRD result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal HRD composite score
..... components 0..1 BackboneElement HRD component scores
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... lst 0..1 decimal Large-scale state transitions (LST)
...... loh 0..1 decimal Loss of heterozygosity (LOH)
...... tai 0..1 decimal Telomeric allelic imbalance (TAI)
..... interpretation 0..1 BackboneElement HRD interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. low)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... simpleVariants 0..* BackboneElement Simple variants (SNV / small indels)
..... @id 1..1 string Variant ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External variant identifiers (e.g. dbSNP rs-number)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... chromosome 1..1 string Chromosome (e.g. chr4)
..... gene 1..1 BackboneElement Affected gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... localization 0..* BackboneElement Variant localisation in gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... transcriptId 0..1 BackboneElement Transcript identifier
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Transcript ID value (e.g. ENST...)
...... system 1..1 string Transcript system URI
..... exonId 0..1 string Exon identifier
..... position 0..1 BackboneElement Genomic position (1-based)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Start position
...... end 0..1 integer End position
..... altAllele 1..1 string Alternate allele
..... refAllele 1..1 string Reference allele
..... dnaChange 0..1 string cDNA / DNA change in HGVS notation (e.g. c.570G>T)
..... proteinChange 0..1 string Protein change in HGVS notation (e.g. p.(Glu125Asp))
..... readDepth 0..1 integer Read depth at variant position
..... allelicFrequency 0..1 decimal Variant allelic frequency
..... interpretation 0..1 BackboneElement ClinVar / clinical interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... copyNumberVariants 0..* BackboneElement Copy number variants (CNV)
..... @id 1..1 string CNV ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... chromosome 1..1 string Chromosome (e.g. chr7)
..... localization 0..* BackboneElement CNV localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... startRange 0..1 BackboneElement Start position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... endRange 0..1 BackboneElement End position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... totalCopyNumber 0..1 integer Total copy number
..... relativeCopyNumber 0..1 decimal Relative copy number
..... cnA 0..1 integer Copy number allele A
..... cnB 0..1 integer Copy number allele B
..... reportedAffectedGenes 0..* BackboneElement Reported affected genes
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... focality 0..1 BackboneElement CNV focality
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Focality code (e.g. focal)
...... display 0..1 string Focality display
...... system 1..1 string Focality system URI
..... type 1..1 BackboneElement CNV type (gain / loss)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string CNV type code
...... display 0..1 string CNV type display
...... system 1..1 string CNV type system URI
.... dnaFusions 0..* BackboneElement DNA-level gene fusions
..... @id 1..1 string DNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... reportedNumReads 0..1 integer Number of reads supporting fusion
.... rnaFusions 0..* BackboneElement RNA-level gene fusions
..... @id 1..1 string RNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External identifiers (e.g. COSMIC fusion ID)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 5-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 3-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... effect 0..1 BackboneElement RNA fusion effect
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Effect code (e.g. in-frame)
...... display 0..1 string Effect display
...... system 1..1 string Effect system URI
..... reportedNumReads 0..1 integer Number of reads supporting fusion

doco Documentation for this format

Constraints

Id Grade Path(s) Description Expression
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Differential View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. dnpm-lm-ngs-report 0..* Element DNPM NGS Report

Elements defined in Ancestors:@id, extension
... dnpmId 1..1 string NGS Report UUID (DNPM internal ID)
... patient 1..1 BackboneElement Patient reference
.... @id 1..1 string Patient ID
.... type 1..1 string Reference type (Patient)
... specimen 1..1 BackboneElement Tumor specimen reference
.... @id 1..1 string Specimen ID
.... type 1..1 string Reference type (TumorSpecimen)
... type 1..1 BackboneElement NGS analysis type (e.g. exome, panel)
.... code 1..1 string Type code
.... display 0..1 string Type display
.... system 1..1 string Type system URI
... metadata 0..1 BackboneElement NGS run metadata
.... referenceGenome 0..1 BackboneElement Reference genome used
..... code 1..1 string Genome build code (e.g. GRCh38)
..... display 0..1 string Genome build display
..... system 1..1 string Genome build system URI
.... sequencer 0..1 BackboneElement Sequencer instrument
..... code 1..1 string Sequencer code
..... display 0..1 string Sequencer display
..... system 1..1 string Sequencer system URI
.... kitManufacturer 0..1 string Kit manufacturer name
.... kitType 0..1 string Kit type name
.... pipeline 0..1 string Bioinformatics pipeline identifier
.... tumorCellContent 0..1 BackboneElement Tumor cell content metadata estimate
..... method 0..1 BackboneElement Estimation method
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
... results 1..1 BackboneElement NGS analysis results
.... tumorCellContent 0..1 BackboneElement Bioinformatically determined tumor cell content
..... @id 1..1 string Result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... method 1..1 BackboneElement Determination method
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
.... tmb 0..1 BackboneElement Tumor Mutational Burden
..... @id 1..1 string TMB result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... value 1..1 BackboneElement TMB quantity
...... value 1..1 decimal Numeric TMB value
...... unit 1..1 string Unit (e.g. Mutations per megabase)
..... interpretation 0..1 BackboneElement TMB interpretation
...... code 1..1 string Interpretation code (e.g. high)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... brcaness 0..1 BackboneElement BRCAness score
..... @id 1..1 string BRCAness result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... value 1..1 decimal BRCAness score (0.0 – 1.0)
..... confidenceRange 0..1 BackboneElement Confidence range
...... min 1..1 decimal Minimum confidence value
...... max 1..1 decimal Maximum confidence value
.... hrdScore 0..1 BackboneElement Homologous Recombination Deficiency Score
..... @id 1..1 string HRD result ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... type 1..1 string Reference type
..... value 1..1 decimal HRD composite score
..... components 0..1 BackboneElement HRD component scores
...... lst 0..1 decimal Large-scale state transitions (LST)
...... loh 0..1 decimal Loss of heterozygosity (LOH)
...... tai 0..1 decimal Telomeric allelic imbalance (TAI)
..... interpretation 0..1 BackboneElement HRD interpretation
...... code 1..1 string Interpretation code (e.g. low)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... simpleVariants 0..* BackboneElement Simple variants (SNV / small indels)
..... @id 1..1 string Variant ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External variant identifiers (e.g. dbSNP rs-number)
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... chromosome 1..1 string Chromosome (e.g. chr4)
..... gene 1..1 BackboneElement Affected gene
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... localization 0..* BackboneElement Variant localisation in gene
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... transcriptId 0..1 BackboneElement Transcript identifier
...... value 1..1 string Transcript ID value (e.g. ENST...)
...... system 1..1 string Transcript system URI
..... exonId 0..1 string Exon identifier
..... position 0..1 BackboneElement Genomic position (1-based)
...... start 1..1 integer Start position
...... end 0..1 integer End position
..... altAllele 1..1 string Alternate allele
..... refAllele 1..1 string Reference allele
..... dnaChange 0..1 string cDNA / DNA change in HGVS notation (e.g. c.570G>T)
..... proteinChange 0..1 string Protein change in HGVS notation (e.g. p.(Glu125Asp))
..... readDepth 0..1 integer Read depth at variant position
..... allelicFrequency 0..1 decimal Variant allelic frequency
..... interpretation 0..1 BackboneElement ClinVar / clinical interpretation
...... code 1..1 string Interpretation code
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... copyNumberVariants 0..* BackboneElement Copy number variants (CNV)
..... @id 1..1 string CNV ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... chromosome 1..1 string Chromosome (e.g. chr7)
..... localization 0..* BackboneElement CNV localisation
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... startRange 0..1 BackboneElement Start position range
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... endRange 0..1 BackboneElement End position range
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... totalCopyNumber 0..1 integer Total copy number
..... relativeCopyNumber 0..1 decimal Relative copy number
..... cnA 0..1 integer Copy number allele A
..... cnB 0..1 integer Copy number allele B
..... reportedAffectedGenes 0..* BackboneElement Reported affected genes
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... focality 0..1 BackboneElement CNV focality
...... code 1..1 string Focality code (e.g. focal)
...... display 0..1 string Focality display
...... system 1..1 string Focality system URI
..... type 1..1 BackboneElement CNV type (gain / loss)
...... code 1..1 string CNV type code
...... display 0..1 string CNV type display
...... system 1..1 string CNV type system URI
.... dnaFusions 0..* BackboneElement DNA-level gene fusions
..... @id 1..1 string DNA fusion ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... localization 0..* BackboneElement Fusion localisation
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... gene 1..1 BackboneElement 5-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... gene 1..1 BackboneElement 3-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... reportedNumReads 0..1 integer Number of reads supporting fusion
.... rnaFusions 0..* BackboneElement RNA-level gene fusions
..... @id 1..1 string RNA fusion ID
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External identifiers (e.g. COSMIC fusion ID)
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... localization 0..* BackboneElement Fusion localisation
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... gene 1..1 BackboneElement 5-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 5-prime transcript
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... gene 1..1 BackboneElement 3-prime partner gene
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 3-prime transcript
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... effect 0..1 BackboneElement RNA fusion effect
...... code 1..1 string Effect code (e.g. in-frame)
...... display 0..1 string Effect display
...... system 1..1 string Effect system URI
..... reportedNumReads 0..1 integer Number of reads supporting fusion

doco Documentation for this format

Snapshot ViewView

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. dnpm-lm-ngs-report 0..* Element DNPM NGS Report

Elements defined in Ancestors:@id, extension
... @id 0..1 string Unique id for inter-element referencing
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... dnpmId 1..1 string NGS Report UUID (DNPM internal ID)
.... @id 1..1 string Patient ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (Patient)
... specimen 1..1 BackboneElement Tumor specimen reference
.... @id 1..1 string Specimen ID
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... type 1..1 string Reference type (TumorSpecimen)
... issuedOn 1..1 string Report issue date (YYYY-MM-DD)
... type 1..1 BackboneElement NGS analysis type (e.g. exome, panel)
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... code 1..1 string Type code
.... display 0..1 string Type display
.... system 1..1 string Type system URI
... metadata 0..1 BackboneElement NGS run metadata
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... referenceGenome 0..1 BackboneElement Reference genome used
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Genome build code (e.g. GRCh38)
..... display 0..1 string Genome build display
..... system 1..1 string Genome build system URI
.... sequencer 0..1 BackboneElement Sequencer instrument
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code 1..1 string Sequencer code
..... display 0..1 string Sequencer display
..... system 1..1 string Sequencer system URI
.... kitManufacturer 0..1 string Kit manufacturer name
.... kitType 0..1 string Kit type name
.... pipeline 0..1 string Bioinformatics pipeline identifier
.... tumorCellContent 0..1 BackboneElement Tumor cell content metadata estimate
..... @id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... method 0..1 BackboneElement Estimation method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
... results 1..1 BackboneElement NGS analysis results
.... @id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... tumorCellContent 0..1 BackboneElement Bioinformatically determined tumor cell content
..... @id 1..1 string Result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... method 1..1 BackboneElement Determination method
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Method code
...... display 0..1 string Method display
...... system 1..1 string Method system URI
..... value 1..1 decimal Tumor cell content fraction (0.0 – 1.0)
.... tmb 0..1 BackboneElement Tumor Mutational Burden
..... @id 1..1 string TMB result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 BackboneElement TMB quantity
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 decimal Numeric TMB value
...... unit 1..1 string Unit (e.g. Mutations per megabase)
..... interpretation 0..1 BackboneElement TMB interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. high)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... brcaness 0..1 BackboneElement BRCAness score
..... @id 1..1 string BRCAness result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal BRCAness score (0.0 – 1.0)
..... confidenceRange 0..1 BackboneElement Confidence range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... min 1..1 decimal Minimum confidence value
...... max 1..1 decimal Maximum confidence value
.... hrdScore 0..1 BackboneElement Homologous Recombination Deficiency Score
..... @id 1..1 string HRD result ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... specimen 1..1 BackboneElement Specimen reference
...... @id 1..1 string Specimen ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... value 1..1 decimal HRD composite score
..... components 0..1 BackboneElement HRD component scores
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... lst 0..1 decimal Large-scale state transitions (LST)
...... loh 0..1 decimal Loss of heterozygosity (LOH)
...... tai 0..1 decimal Telomeric allelic imbalance (TAI)
..... interpretation 0..1 BackboneElement HRD interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code (e.g. low)
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... simpleVariants 0..* BackboneElement Simple variants (SNV / small indels)
..... @id 1..1 string Variant ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External variant identifiers (e.g. dbSNP rs-number)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... chromosome 1..1 string Chromosome (e.g. chr4)
..... gene 1..1 BackboneElement Affected gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... localization 0..* BackboneElement Variant localisation in gene
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... transcriptId 0..1 BackboneElement Transcript identifier
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Transcript ID value (e.g. ENST...)
...... system 1..1 string Transcript system URI
..... exonId 0..1 string Exon identifier
..... position 0..1 BackboneElement Genomic position (1-based)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Start position
...... end 0..1 integer End position
..... altAllele 1..1 string Alternate allele
..... refAllele 1..1 string Reference allele
..... dnaChange 0..1 string cDNA / DNA change in HGVS notation (e.g. c.570G>T)
..... proteinChange 0..1 string Protein change in HGVS notation (e.g. p.(Glu125Asp))
..... readDepth 0..1 integer Read depth at variant position
..... allelicFrequency 0..1 decimal Variant allelic frequency
..... interpretation 0..1 BackboneElement ClinVar / clinical interpretation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Interpretation code
...... display 0..1 string Interpretation display
...... system 1..1 string Interpretation system URI
.... copyNumberVariants 0..* BackboneElement Copy number variants (CNV)
..... @id 1..1 string CNV ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... chromosome 1..1 string Chromosome (e.g. chr7)
..... localization 0..* BackboneElement CNV localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... startRange 0..1 BackboneElement Start position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... endRange 0..1 BackboneElement End position range
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... start 1..1 integer Range start
...... end 1..1 integer Range end
..... totalCopyNumber 0..1 integer Total copy number
..... relativeCopyNumber 0..1 decimal Relative copy number
..... cnA 0..1 integer Copy number allele A
..... cnB 0..1 integer Copy number allele B
..... reportedAffectedGenes 0..* BackboneElement Reported affected genes
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string HGNC gene code
...... display 0..1 string Gene symbol
...... system 1..1 string Gene nomenclature system URI
..... focality 0..1 BackboneElement CNV focality
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Focality code (e.g. focal)
...... display 0..1 string Focality display
...... system 1..1 string Focality system URI
..... type 1..1 BackboneElement CNV type (gain / loss)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string CNV type code
...... display 0..1 string CNV type display
...... system 1..1 string CNV type system URI
.... dnaFusions 0..* BackboneElement DNA-level gene fusions
..... @id 1..1 string DNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... position 1..1 integer Breakpoint position
..... reportedNumReads 0..1 integer Number of reads supporting fusion
.... rnaFusions 0..* BackboneElement RNA-level gene fusions
..... @id 1..1 string RNA fusion ID
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... patient 1..1 BackboneElement Patient reference
...... @id 1..1 string Patient ID
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... type 1..1 string Reference type
..... externalIds 0..* BackboneElement External identifiers (e.g. COSMIC fusion ID)
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... value 1..1 string Identifier value
...... system 1..1 string Identifier system URI
..... localization 0..* BackboneElement Fusion localisation
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Localisation code
...... display 0..1 string Localisation display
...... system 1..1 string Localisation system URI
..... fusionPartner5prime 0..1 BackboneElement 5-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 5-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 5-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... fusionPartner3prime 0..1 BackboneElement 3-prime fusion partner
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... gene 1..1 BackboneElement 3-prime partner gene
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... code 1..1 string HGNC gene code
....... display 0..1 string Gene symbol
....... system 1..1 string Gene nomenclature system URI
...... transcript 0..1 BackboneElement 3-prime transcript
....... @id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... value 1..1 string Transcript ID (e.g. ENST...)
....... system 1..1 string Transcript system URI
...... exon 0..1 string Exon identifier
...... position 1..1 integer Breakpoint position
...... strand 0..1 string Strand (+ or -)
..... effect 0..1 BackboneElement RNA fusion effect
...... @id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... code 1..1 string Effect code (e.g. in-frame)
...... display 0..1 string Effect display
...... system 1..1 string Effect system URI
..... reportedNumReads 0..1 integer Number of reads supporting fusion

doco Documentation for this format

Constraints

Id Grade Path(s) Description Expression
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Summary

Mandatory: 2 elements(133 nested mandatory elements)

 

Other representations of profile: CSV, Excel