NCPI FHIR Implementation Guide v2
0.1.0 - ci-build
NCPI FHIR Implementation Guide v2 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-fastq | Version: 0.1.0 | |||
Draft as of 2024-11-25 | Computable Name: NcpiFASTQ |
NCPI FASTQ File
Logical Model Property | Cardinality | NCPI FHIR Resource | Value Set or Example |
parent_file | 1..1 | Observation.focus | NCPI File Metadata |
assay_strategy | 1..1 | Observation.component | e.g., Whole Genome Sequencing |
platform_instrument | 1..1 | Observation.component | e.g., Illumina HiSeq2000 |
library_prep | 1..1 | Observation.component | e.g., polyA |
library_selection | 1..1 | Observation.component | |
strandedness | 1..1 | Observation.component | stranded, unstranded |
target_region | 1..1 | Observation.component | |
is_paired_end | 1..1 | Observation.component | True, False |
adaptor_trimmed | 1..1 | Observation.component | True, False |
reference_genome | 0..1 | Observation.component | GRCh37, GRCh38 |
workflow_type | 0..1 | Observation.component | e.g., alignment, somatic |
workflow_tool | 0..1 | Observation.component | e.g., BAM-MEM, GATK-Haplotype Caller |
related_samples | 0..* | Extension Reference(Any) | e.g., Reference(Participant_ID) |
Usage:
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from NcpiFileMetadata
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | NcpiFileMetadata | Measurements and simple assertions | |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
specimen-collection | 0..* | Reference() | Linkage for related samples URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/specimen-collection | |
Slices for component | 7..* | BackboneElement | Component results Slice: Unordered, Open by value:code | |
component:assay_strategy | 1..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: AssayStrategy | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:platform_instrument | 1..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: PlatformInstrument | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:library_prep | 1..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: LibraryPrep | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:library_selection | 1..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: LibrarySelection | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:strandedness | 1..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: Strandedness | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:target_region | 0..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: TargetRegion | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:is_paired_end | 1..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: IsPairedEnd | |
value[x] | 0..1 | Actual component result | ||
valueCodeableConcept | CodeableConcept | |||
valueBoolean | boolean | |||
component:adaptor_trimmed | 1..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: AdaptorTrimmed | |
value[x] | 0..1 | Actual component result | ||
valueCodeableConcept | CodeableConcept | |||
valueBoolean | boolean | |||
component:reference_genome | 0..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: ReferenceGenome | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:workflow_type | 0..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: WorkflowType | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
component:workflow_tool | 0..1 | BackboneElement | Component results | |
code | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: WorkflowTool | |
value[x] | 0..1 | CodeableConcept | Actual component result | |
Documentation for this format |
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | C | 0..* | NcpiFileMetadata | Measurements and simple assertions obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
specimen-collection | 0..* | Reference() | Linkage for related samples URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/specimen-collection | |
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. |
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. |
focus | Σ | 1..1 | Reference(Resource) | What the observation is about, when it is not about the subject of record |
Slices for component | Σ | 7..* | BackboneElement | Component results Slice: Unordered, Open by value:code |
component:All Slices | Content/Rules for all slices | |||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. |
component:assay_strategy | Σ | 1..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: AssayStrategy | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:platform_instrument | Σ | 1..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: PlatformInstrument | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:library_prep | Σ | 1..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: LibraryPrep | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:library_selection | Σ | 1..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: LibrarySelection | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:strandedness | Σ | 1..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: Strandedness | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:target_region | Σ | 0..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: TargetRegion | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:is_paired_end | Σ | 1..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: IsPairedEnd | |
value[x] | Σ | 0..1 | Actual component result | |
valueCodeableConcept | CodeableConcept | |||
valueBoolean | boolean | |||
component:adaptor_trimmed | Σ | 1..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: AdaptorTrimmed | |
value[x] | Σ | 0..1 | Actual component result | |
valueCodeableConcept | CodeableConcept | |||
valueBoolean | boolean | |||
component:reference_genome | Σ | 0..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: ReferenceGenome | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:workflow_type | Σ | 0..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: WorkflowType | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
component:workflow_tool | Σ | 0..1 | BackboneElement | Component results |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: WorkflowTool | |
value[x] | Σ | 0..1 | CodeableConcept | Actual component result |
Documentation for this format |
Path | Conformance | ValueSet / Code | URI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.3.0 from the FHIR Standard | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Observation.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Observation.component:assay_strategy.code | example | Pattern: AssayStrategyhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:platform_instrument.code | example | Pattern: PlatformInstrument | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:library_prep.code | example | Pattern: LibraryPrep | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:library_selection.code | example | Pattern: LibrarySelection | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:strandedness.code | example | Pattern: Strandedness | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:target_region.code | example | Pattern: TargetRegion | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:is_paired_end.code | example | Pattern: IsPairedEnd | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:adaptor_trimmed.code | example | Pattern: AdaptorTrimmed | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:reference_genome.code | example | Pattern: ReferenceGenome | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:workflow_type.code | example | Pattern: WorkflowType | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:workflow_tool.code | example | Pattern: WorkflowTool | http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Constraints
Terminology Bindings
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