abstractbaseDefinitioncopyrightdate- Values Differ
descriptionexperimentalfhirVersionjurisdiction
jurisdiction[0]kindnamepublisherpurposestatustitletypeurlversion- Values Differ
| Left: | Molecular Consequence (http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence) |
| Right: | Molecular Consequence (http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence) |
| Error | StructureDefinition.version | Values for version differ: '3.0.0-ballot' vs '3.0.0' |
| Information | StructureDefinition.date | Values for date differ: '2023-12-18T22:45:59+00:00' vs '2024-12-12T20:43:36+00:00' |
| Information | StructureDefinition.comment | Values for comment differ: '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](questionnaireresponse.html) into a final score and represent the score as an Observation.' 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.' |
| Name | Value | Comments | |
|---|---|---|---|
| abstract | false | ||
| baseDefinition | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/implication | ||
| copyright | This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc. | ||
| date | 2023-12-18T22:45:59+00:00 | 2024-12-12T20:43:36+00:00 |
|
| description | Profile for communicating the calculated or observed effect of a DNA variant, generally on its downstream transcript and, if applicable, ensuing protein sequence. Molecular consequences may also apply to DNA, such as intergenic regions where there are no transcripts (e.g. 'regulatory_region_variant'). Component 'feature-consequence' categorizes the structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion), whereas component 'functional-effect' categorizes how the variant affects overall function (e.g. is predicted to result in loss of gene function). | ||
| experimental | |||
| fhirVersion | 4.0.1 | ||
| jurisdiction | |||
| jurisdiction[0] | http://unstats.un.org/unsd/methods/m49/m49.htm#001 | ||
| kind | resource | ||
| name | MolecularConsequence | ||
| publisher | HL7 International / Clinical Genomics | ||
| purpose | |||
| status | active | ||
| title | Molecular Consequence | ||
| type | Observation | ||
| url | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence | ||
| version | 3.0.0-ballot | 3.0.0 |
|
| Name | L Flags | L Card. | L Type | L Description & Constraints | R Flags | R Card. | R Type | R Description & Constraints | Comments | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 Observation | C | 0..* | GenomicImplication | Molecular Consequence 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 | C | 0..* | GenomicImplication | Molecular Consequence 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 | |||||||||||
 Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by pattern:url | 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 | Genomic Study) | Part of referenced event | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy | Genomic Study) | Part of referenced event | |||||||||
| status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ?? (required): Codes providing the status of an observation. | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ?? (required): Codes providing the status of an observation. | |||||||||
| Slices for category | 2..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ?? (preferred): Codes for high level observation categories. | 2..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ?? (preferred): Codes for high level observation categories. | |||||||||||
| code | Σ | 1..1 | CodeableConcept | molecular-consequence Binding: ?? (example): Codes identifying names of simple observations. Required Pattern: {"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"molecular-consequence"}]} | Σ | 1..1 | CodeableConcept | molecular-consequence Binding: ?? (example): Codes identifying names of simple observations. Required Pattern: {"coding":[{"system":"http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs","code":"molecular-consequence"}]} | |||||||||
| subject | Σ | 0..1 | Reference(Patient | Group | Device | Location) | Who and/or what the observation is about | Σ | 0..1 | Reference(Patient | Group | Device | Location) | 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] | Σ | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation | Σ | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation | |||||||||
| issued | Σ | 0..1 | instant | Date/Time this version was made available | Σ | 0..1 | instant | Date/Time this version was made available | |||||||||
| performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | |||||||||
| value[x] | ΣC | 0..0 | ΣC | 0..0 | |||||||||||||
| dataAbsentReason | C | 0..1 | CodeableConcept | Why the result is missing Binding: ?? (extensible): Codes specifying why the result (Observation.value[x]) is missing. | C | 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..* | ?? | Comments about the Observation that also contain a coded type | 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. | 0..1 | CodeableConcept | How it was done Binding: ?? (example): Methods for simple observations. | |||||||||||
| specimen | 0..1 | Reference(Specimen) | Specimen used for this observation | 0..1 | Reference(Specimen) | 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 | Provides guide for interpretation 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 | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | |||||||||
| Slices for derivedFrom | Σ | 1..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | Σ | 1..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | |||||||||
 Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by value:code | |||||||||
 id | 0..1 | string | Unique id for inter-element referencing | 0..1 | string | Unique id for inter-element referencing | |||||||||||
| Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||||||||
| 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 | |||||||||||||||||