| Left: | US Core Observation Screening Assessment Profile (http://hl7.org/fhir/us/core/StructureDefinition/us-core-observation-screening-assessment) |
| Right: | Genomic Variant Profile (http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant) |
| Error | StructureDefinition.url | Values for url differ: 'http://hl7.org/fhir/us/core/StructureDefinition/us-core-observation-screening-assessment' vs 'http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant' |
| Error | StructureDefinition.version | Values for version differ: '7.0.0' vs '4.0.0' |
| Information | StructureDefinition.name | Values for name differ: 'USCoreObservationScreeningAssessmentProfile' vs 'GenomicVariant' |
| Information | StructureDefinition.title | Values for title differ: 'US Core Observation Screening Assessment Profile' vs 'Genomic Variant Profile' |
| Information | StructureDefinition.date | Values for date differ: '2023-10-17' vs '2024-12-03T21:49:52+00:00' |
| Information | StructureDefinition.publisher | Values for publisher differ: 'HL7 International / Cross-Group Projects' vs 'HL7 International / Clinical Interoperability Council' |
| Error | StructureDefinition.baseDefinition | Values for baseDefinition differ: 'http://hl7.org/fhir/StructureDefinition/Observation' vs 'http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant' |
| Information | StructureDefinition.short | Values for short differ: 'Survey Observation' vs 'Variant' |
| Information | StructureDefinition.short | Values for short differ: 'Additional content defined by implementations' vs 'Extension' |
| Information | StructureDefinition.definition | Values for definition differ: 'May be used to represent additional information that is not part of the basic definition of the resource. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.' vs 'An Extension' |
| Information | StructureDefinition.short | Values for short differ: 'Type of observation (code / type)' vs '69548-6' |
| Information | Observation.code | Example/preferred bindings differ at Observation.code using binding from USCoreObservationScreeningAssessmentProfile |
| Information | Observation.subject | Element minimum cardinalities differ: '1' vs '0' |
| Information | StructureDefinition.definition | Values for definition differ: 'The time or time-period the observed value is asserted as being true. For biological subjects - e.g., human patients - this is usually called the 'physiologically relevant time'.' vs 'The time or time-period the observed value is asserted as being true. For biological subjects - e.g. human patients - this is usually called the 'physiologically relevant time'. This is usually either the time of the procedure or of specimen collection, but very often the source of the date/time is not known, only the date/time itself.' |
| Information | StructureDefinition.comment | Values for comment differ: 'At least a date should be present unless this observation is a historical report.' vs 'At least a date should be present unless this observation is a historical report. For recording imprecise or 'fuzzy' times (For example, a blood glucose measurement taken 'after breakfast') use the [Timing](http://hl7.org/fhir/R4/datatypes.html#timing) datatype which allow the measurement to be tied to regular life events.' |
| Warning | Observation.performer | Elements differ in definition for mustSupport: 'true' vs 'false' |
| Information | StructureDefinition.comment | Values for comment differ: 'An observation may have a value if it represents an individual survey, screening, or assessment question and answer pair. An observation should not have a value if it represents a multi-question or multi-select “check all that apply” responses. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value.' vs 'An observation may have; 1) a single value here, 2) both a value and a set of related or component values, or 3) only a set of related or component values. If a value is present, the datatype for this element should be determined by Observation.code. A CodeableConcept with just a text would be used instead of a string if the field was usually coded, or if the type associated with the Observation.code defines a coded value. For additional guidance, see the [Notes section](http://hl7.org/fhir/R4/observation.html#notes) below.' |
| Information | StructureDefinition.comment | Values for comment differ: ''Null' or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For a given LOINC question, if the LOINC answer list includes concepts such as 'unknown' or 'not available', they should be used for Observation.value. Where these concepts are not part of the value set for Observation.value, the Observation.dataAbsentReason can be used if necessary and appropriate.' vs 'Null or exceptional values can be represented two ways in FHIR Observations. One way is to simply include them in the value set and represent the exceptions in the value. For example, measurement values for a serology test could be 'detected', 'not detected', 'inconclusive', or 'specimen unsatisfactory'. The alternate way is to use the value element for actual observations and use the explicit dataAbsentReason element to record exceptional values. For example, the dataAbsentReason code 'error' could be used when the measurement was not completed. Note that an observation may only be reported if there are values to report. For example differential cell counts values may be reported only when > 0. Because of these options, use-case agreements are required to interpret general observations for null or exceptional values.' |
| Information | StructureDefinition.short | Values for short differ: 'Comments about the observation' vs 'Comments about the Observation that also contain a coded type' |
| Information | StructureDefinition.definition | Values for definition differ: 'Comments about the observation or the results.' vs 'A text note which also contains information about who made the statement and when.' |
| Information | StructureDefinition.comment | Values for comment differ: 'May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation.' vs 'May include general statements about the observation, or statements about significant, unexpected or unreliable results values, or information about its source when relevant to its interpretation. The CodedAnnotation data type, while not allowing for or intending to make the content computable, does allow the author to indicate the type of note. This does not replace the use of interpretation, value, or component values. One important note is that Annotation is a FHIR data type, this is **NOT** about annotations in the genomic context.' |
| Information | StructureDefinition.requirements | Values for requirements differ: 'Need to be able to provide free text additional information.' vs 'Need to be able to provide free text additional information. Notes SHALL NOT contain information which can be captured in a structured way.' |
| Information | StructureDefinition.short | Values for short differ: 'How it was done' vs 'Sequencing | SNP array | PCR | Computational analysis | ...' |
| Warning | Observation.method | Elements differ in definition for mustSupport: 'false' vs 'true' |
| Warning | Observation.specimen | Elements differ in definition for mustSupport: 'false' vs 'true' |
| Information | StructureDefinition.short | Values for short differ: 'Provides guide for interpretation' vs 'Not used in this profile' |
| Information | StructureDefinition.definition | Values for definition differ: 'Guidance on how to interpret the value by comparison to a normal or recommended range. Multiple reference ranges are interpreted as an 'OR'. In other words, to represent two distinct target populations, two `referenceRange` elements would be used.' vs 'Not used in this profile' |
| Information | StructureDefinition.short | Values for short differ: 'Reference to panel members or multi-select responses or multi-select responses' vs 'Not used in this profile' |
| Information | StructureDefinition.definition | Values for definition differ: 'Aggregate set of Observations that represent question answer pairs for both multi-question surveys, screenings, and assessments and multi-select questions.' vs 'Not used in this profile' |
| Information | StructureDefinition.comment | Values for comment differ: 'This grouping element is used to represent surveys, screenings, and assessments that group several questions together or individual questions with “check all that apply” responses. For example in the simplest case a flat multi-question survey where the 'panel' observation is the survey instrument itself and instead of an `Observation.value` the `hasMember` element references other Observation that represent the individual questions answer pairs. When there is a heirarchical grouping of questions, the observation 'panels' can be nested. Because surveys, screenings, and assessments can be arbitrarily complex structurally, not all structures can be represented using this Observation grouping pattern.' vs 'When using this element, an observation will typically have either a value or a set of related resources, although both may be present in some cases. For a discussion on the ways Observations can assembled in groups together, see [Notes](http://hl7.org/fhir/R4/observation.html#obsgrouping) below. Note that a system may calculate results from [QuestionnaireResponse](http://hl7.org/fhir/R4/questionnaireresponse.html) into a final score and represent the score as an Observation.' |
| Warning | Observation.hasMember | Elements differ in definition for mustSupport: 'true' vs 'false' |
| Information | StructureDefinition.short | Values for short differ: '𝗔𝗗𝗗𝗜𝗧𝗜𝗢𝗡𝗔𝗟 𝗨𝗦𝗖𝗗𝗜: Related Observation(s) or other resource the observation is made from' vs 'Related measurements the observation is made from' |
| Information | StructureDefinition.definition | Values for definition differ: 'Observations or or other resource such as a QuestionnaireResponse from which this observation value is derived.' vs 'The target resource that represents a measurement from which this observation value is derived. For example, a calculated anion gap or a fetal measurement based on an ultrasound image.' |
| Warning | Observation.derivedFrom | Elements differ in definition for mustSupport: 'true' vs 'false' |
| Error | Observation.derivedFrom | Type Mismatch: Reference([CanonicalType[http://hl7.org/fhir/us/core/StructureDefinition/us-core-observation-screening-assessment], CanonicalType[http://hl7.org/fhir/us/core/StructureDefinition/us-core-questionnaireresponse], CanonicalType[http://hl7.org/fhir/us/core/StructureDefinition/us-core-documentreference], CanonicalType[http://hl7.org/fhir/StructureDefinition/ImagingStudy], CanonicalType[http://hl7.org/fhir/StructureDefinition/Media], CanonicalType[http://hl7.org/fhir/StructureDefinition/MolecularSequence]]) vs Reference([CanonicalType[http://hl7.org/fhir/StructureDefinition/DocumentReference], CanonicalType[http://hl7.org/fhir/StructureDefinition/ImagingStudy], CanonicalType[http://hl7.org/fhir/StructureDefinition/Media], CanonicalType[http://hl7.org/fhir/StructureDefinition/QuestionnaireResponse], CanonicalType[http://hl7.org/fhir/StructureDefinition/Observation], CanonicalType[http://hl7.org/fhir/StructureDefinition/MolecularSequence]]) |
| Warning | Observation.component | Elements differ in definition for mustSupport: 'false' vs 'true' |
| Name | Value | Comments | |
|---|---|---|---|
 abstract | false | ||
| baseDefinition | http://hl7.org/fhir/StructureDefinition/Observation | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant |
|
| copyright | Used by permission of HL7 International, all rights reserved Creative Commons License |
| |
| date | 2023-10-17 | 2024-12-03T21:49:52+00:00 |
|
| description | The US Core Observation Screening Assessment Profile inherits from the FHIR [Observation](https://hl7.org/fhir/R4/observation.html) resource; refer to it for scope and usage definitions. This profile meets the requirements of the U.S. Core Data for Interoperability (USCDI) *Health Status Assessments* Data Class. It sets the minimum expectations for the Observation Resource to record, search, and fetch observations representing the questions and responses to surveys and screening and assessment tools. For example, a social history status such as education or food insecurity or an assessment of cognitive, functional, or disability status. It can represent a single response, multiple responses, and multi-select "check all that apply" type questions. This profile specifies which core elements, extensions, vocabularies, and value sets **SHALL** be present in the resource and constrains how the elements are used. Providing the floor for standards development for specific use cases promotes interoperability and adoption. Before reviewing this profile, implementers are encouraged to read the Screening and Assessments guidance page, which documents the process of recording responses and capturing assertions/determinations resulting from surveys and questionnaires. | Details about a set of changes in the tested sample compared to a reference sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation. Variants can be computed relative to reference sequence assembly from which it was identified. |
|
| experimental | |||
| fhirVersion | 4.0.1 | ||
| jurisdiction | |||
 jurisdiction[0] | urn:iso:std:iso:3166#US | ||
| kind | resource | ||
| name | USCoreObservationScreeningAssessmentProfile | GenomicVariant |
|
| publisher | HL7 International / Cross-Group Projects | HL7 International / Clinical Interoperability Council |
|
| purpose | |||
| status | active | ||
| title | US Core Observation Screening Assessment Profile | Genomic Variant Profile |
|
| type | Observation | ||
| url | http://hl7.org/fhir/us/core/StructureDefinition/us-core-observation-screening-assessment | http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant |
|
| version | 7.0.0 | 4.0.0 |
|
| Name | L Flags | L Card. | L Type | L Description & Constraints | R Flags | R Card. | R Type | R Description & Constraints | Comments | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 Observation | C | 0..* | Observation | Survey Observation 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 us-core-2: If there is no component or hasMember element then either a value[x] or a data absent reason must be present | C | 0..* | Variant | Variant 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 | |||||||||
 id | Σ | 0..1 | id | Logical id of this artifact | Σ | 0..1 | id | Logical id of this artifact | |||||||||
| meta | Σ | 0..1 | Meta | Metadata about the resource | Σ | 0..1 | Meta | Metadata about the resource | |||||||||
| implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ?!Σ | 0..1 | uri | A set of rules under which this content was created | |||||||||
| language | 0..1 | code | Language of the resource content Binding: ?? (preferred): A human language.
| 0..1 | code | Language of the resource content Binding: ?? (preferred): A human language.
| |||||||||||
| text | 0..1 | Narrative | Text summary of the resource, for human interpretation | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||||||||
| contained | 0..* | Resource | Contained, inline Resources | 0..* | Resource | Contained, inline Resources | |||||||||||
 extension | 0..* | Extension | Additional content defined by implementations | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||||||||
 modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ?! | 0..* | Extension | Extensions that cannot be ignored | |||||||||
| identifier | Σ | 0..* | Identifier | Business Identifier for observation | Σ | 0..* | Identifier | Business Identifier for observation | |||||||||
| basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | |||||||||
| partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | |||||||||
| status | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ?? (required): Codes providing the status of an observation. | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ?? (required): Codes providing the status of an observation. | |||||||||
| Slices for category | S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by pattern:$this Binding: ?? (preferred): Codes for high level observation categories. | S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ?? (preferred): Codes for high level observation categories. | |||||||||
| code | SΣ | 1..1 | CodeableConcept | Type of observation (code / type) Binding: ?? (preferred) | SΣ | 1..1 | CodeableConcept | 69548-6 Binding: ?? (example): Codes identifying names of simple observations. Required Pattern: {"coding":[{"system":"http://loinc.org","code":"69548-6"}]} |
| ||||||||
| subject | SΣ | 1..1 | Reference(US Core Patient Profile S | Group | Device | US Core Location Profile) | Who and/or what the observation is about | SΣ | 0..1 | Reference(Cancer Patient Profile) | Who and/or what the observation is about |
| ||||||||
| focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | |||||||||
| encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | |||||||||
| effective[x] | SΣC | 0..1 | dateTime S, Period, Timing, instant | Clinically relevant time/time-period for observation us-core-1: Datetime must be at least to day. | SΣ | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this | |||||||||
| issued | Σ | 0..1 | instant | Date/Time this version was made available | Σ | 0..1 | instant | Date/Time this version was made available | |||||||||
| performer | SΣ | 0..* | Reference(US Core Practitioner Profile | US Core Organization Profile | US Core Patient Profile | PractitionerRole | US Core CareTeam Profile | US Core RelatedPerson Profile) | Who is responsible for the observation | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation |
| ||||||||
| value[x] | SΣC | 0..1 | Quantity S, CodeableConcept S, string S, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual result us-core-3: SHALL use UCUM for coded quantity units. | SΣC | 0..1 | CodeableConcept | Actual result Slice: Unordered, Closed by type:$this | |||||||||
| dataAbsentReason | SC | 0..1 | CodeableConcept | Why the result is missing Binding: ?? (extensible): Codes specifying why the result (Observation.value[x]) is missing. | SC | 0..1 | CodeableConcept | Why the result is missing Binding: ?? (extensible): Codes specifying why the result (Observation.value[x]) is missing. | |||||||||
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ?? (extensible): Codes identifying interpretations of observations. | 0..* | CodeableConcept | High, low, normal, etc. Binding: ?? (extensible): Codes identifying interpretations of observations. | |||||||||||
| note | 0..* | Annotation | Comments about the observation | 0..* | ?? | Comments about the Observation that also contain a coded type | |||||||||||
| bodySite | 0..1 | CodeableConcept | Observed body part Binding: ?? (example): Codes describing anatomical locations. May include laterality. | 0..1 | CodeableConcept | Observed body part Binding: ?? (example): Codes describing anatomical locations. May include laterality. | |||||||||||
| method | 0..1 | CodeableConcept | How it was done Binding: ?? (example): Methods for simple observations. | S | 0..1 | CodeableConcept | Sequencing | SNP array | PCR | Computational analysis | ... Binding: ?? (extensible) |
| |||||||||
| specimen | 0..1 | Reference(Specimen) | Specimen used for this observation | S | 0..1 | Reference(Human Specimen Profile) | Specimen used for this observation |
| |||||||||
| device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||||||||
 referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text | C | 0..* | BackboneElement | Not used in this profile obs-3: Must have at least a low or a high or text | |||||||||
 id | 0..1 | string | Unique id for inter-element referencing | 0..1 | string | Unique id for inter-element referencing | |||||||||||
| extension | 0..* | Extension | Additional content defined by implementations | 0..* | Extension | Additional content defined by implementations | |||||||||||
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||||||
| low | C | 0..1 | ?? | Low Range, if relevant | C | 0..1 | ?? | Low Range, if relevant | |||||||||
| high | C | 0..1 | ?? | High Range, if relevant | C | 0..1 | ?? | High Range, if relevant | |||||||||
| type | 0..1 | CodeableConcept | Reference range qualifier Binding: ?? (preferred): Code for the meaning of a reference range. | 0..1 | CodeableConcept | Reference range qualifier Binding: ?? (preferred): Code for the meaning of a reference range. | |||||||||||
| appliesTo | 0..* | CodeableConcept | Reference range population Binding: ?? (example): Codes identifying the population the reference range applies to. | 0..* | CodeableConcept | Reference range population Binding: ?? (example): Codes identifying the population the reference range applies to. | |||||||||||
| age | 0..1 | Range | Applicable age range, if relevant | 0..1 | Range | Applicable age range, if relevant | |||||||||||
| text | 0..1 | string | Text based reference range in an observation | 0..1 | string | Text based reference range in an observation | |||||||||||
| hasMember | SΣ | 0..* | Reference(US Core Observation Screening Assessment Profile S | QuestionnaireResponse | MolecularSequence) | Reference to panel members or multi-select responses or multi-select responses | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Not used in this profile |
| ||||||||
| derivedFrom | SΣ | 0..* | Reference(US Core Observation Screening Assessment Profile S | US Core QuestionnaireResponse Profile S | US Core DocumentReference Profile | ImagingStudy | Media | MolecularSequence) | 𝗔𝗗𝗗𝗜𝗧𝗜𝗢𝗡𝗔𝗟 𝗨𝗦𝗖𝗗𝗜: Related Observation(s) or other resource the observation is made from | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
| ||||||||
 component | Σ | 0..* | BackboneElement | Component results | SΣ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
| ||||||||
 id | 0..1 | string | Unique id for inter-element referencing | 0..1 | string | Unique id for inter-element referencing | |||||||||||
| extension | 0..* | Extension | Additional content defined by implementations | 0..* | Extension | Additional content defined by implementations | |||||||||||
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | |||||||||
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: ?? (example): Codes identifying names of simple observations. | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: ?? (example): Codes identifying names of simple observations. | |||||||||
| value[x] | Σ | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result | Σ | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result | |||||||||
| dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: ?? (extensible): Codes specifying why the result (Observation.value[x]) is missing. | C | 0..1 | CodeableConcept | Why the component result is missing Binding: ?? (extensible): Codes specifying why the result (Observation.value[x]) is missing. | |||||||||
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ?? (extensible): Codes identifying interpretations of observations. | 0..* | CodeableConcept | High, low, normal, etc. Binding: ?? (extensible): Codes identifying interpretations of observations. | |||||||||||
 referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||||||||
| Documentation for this format | |||||||||||||||||