This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
The official URL for this profile is:
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from Finding
Summary
Mandatory: 2 elements (61 nested mandatory elements)
Fixed Value: 1 element
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
This structure is derived from Finding
Name | Flags | Card. | Type | Description & Constraints![]() |
---|---|---|---|---|
![]() ![]() | 0..* | Variant | ||
![]() ![]() ![]() | 1..1 | CodeableConcept | Genetic variant assessment Required Pattern: At least the following | |
![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
![]() ![]() ![]() | 1..1 | CodeableConcept | Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required) | |
![]() ![]() ![]() | 0..1 | CodeableConcept | Sequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+ Binding: LOINC Answer List LL4048-6 (extensible) | |
![]() ![]() ![]() | 0..* | (Slice Definition) | Slice: Unordered, Open by pattern:code | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | DNA Change - Transcript (cHGVS) | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: HGVS (required) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | DNA change type | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type (extensible) | |
![]() ![]() ![]() ![]() | 0..* | BackboneElement | Functional Annotation | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: functional-annotation | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Concepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537) Binding: Functional Annotation (extensible) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Variation Code | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: (unbound) (example) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | dbSNP ID | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81255-2 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: (unbound) (example) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | DNA Change - Genomic (gHGVS) | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: HGVS (required) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Genomic source class | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Amino acid change (pHGVS) | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: HGVS (required) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Amino acid change type | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48006-1 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation Binding: LOINC Answer List LL380-7 (required) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Transcript reference sequence ID | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: (unbound) (example) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Genomic reference sequence ID | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: (unbound) (example) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Sample Allelic Frequency | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Sample Sample VAF Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | Quantity | ||
![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | decimal | ||
![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Fixed Value: http://unitsofmeasure.org | |
![]() ![]() ![]() ![]() | 0..* | BackboneElement | Allelic read depth | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82121-5 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | Quantity | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Allelic state | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Genomic structural variant copy number | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | Count | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Genomic ref allele | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69547-8 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | string | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Genomic alt allele | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69551-0 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | string | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Coordinate System | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 92822-6 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | 0-based interval | 0-based character | 1-based character Binding: LOINC Answer List LL5323-2 (preferred) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Exact start-end | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: exact-start-end | |
![]() ![]() ![]() ![]() ![]() | 1..1 | Range | ||
![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | SimpleQuantity | Exact Start | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | SimpleQuantity | Exact End | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Structural variant length | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81300-6 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | Count | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Variant outer start and end | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: outer-start-end | |
![]() ![]() ![]() ![]() ![]() | 1..1 | Range | ||
![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | SimpleQuantity | ||
![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | SimpleQuantity | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Variant inner start and end | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: inner-start-end | |
![]() ![]() ![]() ![]() ![]() | 1..1 | Range | ||
![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | SimpleQuantity | ||
![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | SimpleQuantity | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Chromosome copy number change type | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62378-5 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Copy number gain | Copy number loss Binding: LOINC Answer List LL1041-4 (required) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Structural variant reported arrCGH [Ratio] | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81299-0 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | SimpleQuantity | ||
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Complex variant type | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81263-6 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Compound heterozygous | Double heterozygous | Haplotype | Hemizygous Binding: LOINC Answer List LL3999-1 (required) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Cytogenomic Nomenclature | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Variant ISCN Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: (unbound) (example) | |
![]() ![]() ![]() ![]() | 0..1 | BackboneElement | Variant Inheritance | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Required Pattern: At least the following | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: variant-inheritance | |
![]() ![]() ![]() ![]() ![]() | 1..1 | CodeableConcept | Binding: Variant Inheritance (extensible) | |
![]() |
Name | Flags | Card. | Type | Description & Constraints![]() |
---|---|---|---|---|
![]() ![]() | I | 0..* | Variant | |
![]() ![]() ![]() | Σ | 0..1 | string | Logical id of this artifact |
![]() ![]() ![]() | ΣI | 0..1 | Meta | Metadata about the resource |
![]() ![]() ![]() | ?!ΣI | 0..1 | uri | A set of rules under which this content was created |
![]() ![]() ![]() | I | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) Max Binding: AllLanguages |
![]() ![]() ![]() | I | 0..1 | Narrative | Text summary of the resource, for human interpretation |
![]() ![]() ![]() | 0..* | Resource | Contained, inline Resources | |
![]() ![]() ![]() | I | 0..* | Extension | Extension Slice: Unordered, Open by value:url |
![]() ![]() ![]() | I | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite |
![]() ![]() ![]() | I | 0..1 | CodeableConcept | Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
For more detail, please see:
https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: ObservationCategoryCodes (extensible) |
![]() ![]() ![]() | ?!I | 0..* | Extension | Extensions that cannot be ignored |
![]() ![]() ![]() | ΣI | 0..* | Identifier | Business Identifier for observation |
![]() ![]() ![]() | ΣI | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
![]() ![]() ![]() | ΣI | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
![]() ![]() ![]() | ?!ΣI | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
![]() ![]() ![]() | I | 1..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred) Required Pattern: At least the following |
![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Genetic variant assessment Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() | ΣI | 0..1 | Reference(Patient | Group | Location) | Who and/or what the observation is about |
![]() ![]() ![]() | ΣI | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record |
![]() ![]() ![]() | ΣI | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made |
![]() ![]() ![]() | ΣI | 0..1 | (Slice Definition) | Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this |
![]() ![]() ![]() ![]() | ΣI | 0..1 | dateTime | Clinically relevant time/time-period for observation |
![]() ![]() ![]() | ΣI | 0..1 | instant | Date/Time this version was made available |
![]() ![]() ![]() | ΣI | 0..1 | Reference(Practitioner | Organization | Patient | RelatedPerson) | Who is responsible for the observation |
![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required) |
![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() | I | 0..* | Annotation | Comments about the observation |
![]() ![]() ![]() | I | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example) |
![]() ![]() ![]() | I | 0..1 | CodeableConcept | Sequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+ Binding: LOINC Answer List LL4048-6 (extensible) |
![]() ![]() ![]() | I | 0..1 | Reference(Specimen) | Specimen examined |
![]() ![]() ![]() | I | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device |
![]() ![]() ![]() | I | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text |
![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() | I | 0..1 | SimpleQuantity | Low Range, if relevant |
![]() ![]() ![]() ![]() | I | 0..1 | SimpleQuantity | High Range, if relevant |
![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred) |
![]() ![]() ![]() ![]() | I | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example) |
![]() ![]() ![]() ![]() | I | 0..1 | Range | Applicable age range, if relevant |
![]() ![]() ![]() ![]() | I | 0..1 | string | Text based reference range in an observation |
![]() ![]() ![]() | ΣI | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group |
![]() ![]() ![]() | ΣI | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
![]() ![]() ![]() | ΣI | 0..* | (Slice Definition) | Component results Slice: Unordered, Open by pattern:code |
![]() ![]() ![]() ![]() | Content/Rules for all slices | |||
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) |
![]() ![]() ![]() ![]() ![]() | ΣI | 0..1 | Actual component result | |
![]() ![]() ![]() ![]() ![]() ![]() | Quantity | |||
![]() ![]() ![]() ![]() ![]() ![]() | CodeableConcept | |||
![]() ![]() ![]() ![]() ![]() ![]() | string | |||
![]() ![]() ![]() ![]() ![]() ![]() | boolean | |||
![]() ![]() ![]() ![]() ![]() ![]() | integer | |||
![]() ![]() ![]() ![]() ![]() ![]() | Range | |||
![]() ![]() ![]() ![]() ![]() ![]() | Ratio | |||
![]() ![]() ![]() ![]() ![]() ![]() | SampledData | |||
![]() ![]() ![]() ![]() ![]() ![]() | time | |||
![]() ![]() ![]() ![]() ![]() ![]() | dateTime | |||
![]() ![]() ![]() ![]() ![]() ![]() | Period | |||
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..* | BackboneElement | Gene studied ID |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HGNC (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..* | BackboneElement | Cytogenetic (chromosome) location |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: (unbound) (example) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..* | BackboneElement | Human reference sequence assembly version |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL1040-6 (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | DNA Change - Transcript (cHGVS) |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48004-6 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: HGVS (required) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | DNA change type |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..* | BackboneElement | Functional Annotation |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: functional-annotation | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Concepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537) Binding: Functional Annotation (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | Variation Code |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: (unbound) (example) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | dbSNP ID |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81255-2 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: (unbound) (example) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | DNA Change - Genomic (gHGVS) |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: HGVS (required) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | Genomic source class |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Germline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | Amino acid change (pHGVS) |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: HGVS (required) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | Amino acid change type |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48006-1 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation Binding: LOINC Answer List LL380-7 (required) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | Transcript reference sequence ID |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 51958-7 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: (unbound) (example) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | Genomic reference sequence ID |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Extension | Additional content defined by implementations |
![]() ![]() ![]() ![]() ![]() | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) Required Pattern: At least the following |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Version of the system - if relevant | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48013-7 | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Representation defined by the system | |
![]() ![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | boolean | If this coding was chosen directly by the user | |
![]() ![]() ![]() ![]() ![]() ![]() | 0..1 | string | Plain text representation of the concept | |
![]() ![]() ![]() ![]() ![]() | ΣI | 1..1 | CodeableConcept | Actual component result Binding: (unbound) (example) |
![]() ![]() ![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() ![]() ![]() | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
![]() ![]() ![]() ![]() | ΣI | 0..1 | BackboneElement | Sample Allelic Frequency |
![]() ![]() ![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |