This page is part of the FHIR Specification (v3.2.0: R4 Ballot 1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4
Orders and Observations Work Group | Maturity Level: N/A | Ballot Status: Informative |
AminoAcidChange
<StructureDefinition xmlns="http://hl7.org/fhir"> <id value="observation-geneticsAminoAcidChange"/> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"> <valueCode value="oo"/> </extension> <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"> <valueInteger value="1"/> </extension> <url value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange"/> <name value="AminoAcidChange"/> <status value="draft"/> <date value="2016-03-14"/> <publisher value="Health Level Seven International (Clinical Genomics)"/> <contact> <telecom> <system value="url"/> <value value="http://www.hl7.org/Special/committees/clingenomics"/> </telecom> </contact> <description value="AminoAcidChange information."/> <fhirVersion value="3.2.0"/> <mapping> <identity value="v2"/> <uri value="http://hl7.org/v2"/> <name value="HL7 v2 Mapping"/> </mapping> <mapping> <identity value="rim"/> <uri value="http://hl7.org/v3"/> <name value="RIM Mapping"/> </mapping> <kind value="complex-type"/> <abstract value="false"/> <contextType value="resource"/> <context value="Observation"/> <type value="Extension"/> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Extension"/> <derivation value="constraint"/> <snapshot> <element id="Extension"> <path value="Extension"/> <short value="AminoAcidChange"/> <definition value="AminoAcidChange information."/> <min value="0"/> <max value="1"/> <base> <path value="Extension"/> <min value="0"/> <max value="*"/> </base> <condition value="ele-1"/> <constraint> <key value="ele-1"/> <severity value="error"/> <human value="All FHIR elements must have a @value or children"/> <expression value="hasValue() | (children().count() > id.count())"/> <xpath value="@value|f:*|h:div"/> <source value="Element"/> </constraint> <constraint> <key value="ext-1"/> <severity value="error"/> <human value="Must have either extensions or value[x], not both"/> <expression value="extension.exists() != value.exists()"/> <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])"/> <source value="Extension"/> </constraint> <mapping> <identity value="v2"/> <map value="N/A"/> </mapping> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.id"> <path value="Extension.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="1"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Extension.extension"> <path value="Extension.extension"/> <slicing> <discriminator> <type value="value"/> <path value="url"/> </discriminator> <description value="Extensions are always sliced by (at least) url"/> <rules value="open"/> </slicing> <short value="Additional Content defined by implementations"/> <definition value="May be used to represent additional information that is not part of the basic definition of the element. In order 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 is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension."/> <comment value="There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone."/> <alias value="extensions"/> <alias value="user content"/> <min value="0"/> <max value="*"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Extension.extension:name"> <path value="Extension.extension"/> <sliceName value="Name"/> <short value="HGVS nomenclature for observed Amino Acid Change"/> <definition value="Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide ([SO:0001237](http://www.sequenceon tology.org/browser/current_svn/term/SO:0001237)). LOINC Code: ([48005-3](http://loinc.org/48005-3))."/> <min value="0"/> <max value="1"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="v2"/> <map value="N/A"/> </mapping> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:name.id"> <path value="Extension.extension.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="1"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Extension.extension:name.extension"> <path value="Extension.extension.extension"/> <slicing> <discriminator> <type value="value"/> <path value="url"/> </discriminator> <description value="Extensions are always sliced by (at least) url"/> <rules value="open"/> </slicing> <short value="Extension"/> <definition value="An Extension"/> <min value="0"/> <max value="0"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> </element> <element id="Extension.extension:name.url"> <path value="Extension.extension.url"/> <representation value="xmlAttr"/> <short value="identifies the meaning of the extension"/> <definition value="Source of the definition for the extension code - a logical name or a URL."/> <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension."/> <min value="1"/> <max value="1"/> <base> <path value="Extension.url"/> <min value="1"/> <max value="1"/> </base> <type> <code value="uri"/> </type> <fixedUri value="Name"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:name.valueCodeableConcept"> <path value="Extension.extension.valueCodeableConcept"/> <short value="Value of extension"/> <definition value="Value of extension - may be a resource or one of a constrained set of the data types (see Extensibility in the spec for list)."/> <min value="0"/> <max value="1"/> <base> <path value="Extension.value[x]"/> <min value="0"/> <max value="1"/> </base> <type> <code value="CodeableConcept"/> </type> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="ClinVar-variant-database"/> </extension> <strength value="preferred"/> <description value="NCBI central repository of potentially clinically relevant variants"/> <valueSetUri value="http://www.ncbi.nlm.nih.gov/clinvar/variation"/> </binding> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:type"> <path value="Extension.extension"/> <sliceName value="Type"/> <short value="Amino Acid Change Type"/> <definition value="Codified type for associated Amino Acid Change. LOINC Code: ([48006-1](http://loinc.org/48006-1))."/> <min value="0"/> <max value="1"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> <mapping> <identity value="v2"/> <map value="N/A"/> </mapping> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:type.id"> <path value="Extension.extension.id"/> <representation value="xmlAttr"/> <short value="xml:id (or equivalent in JSON)"/> <definition value="unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces."/> <min value="0"/> <max value="1"/> <base> <path value="Element.id"/> <min value="0"/> <max value="1"/> </base> <type> <code value="string"/> </type> <mapping> <identity value="rim"/> <map value="n/a"/> </mapping> </element> <element id="Extension.extension:type.extension"> <path value="Extension.extension.extension"/> <slicing> <discriminator> <type value="value"/> <path value="url"/> </discriminator> <description value="Extensions are always sliced by (at least) url"/> <rules value="open"/> </slicing> <short value="Extension"/> <definition value="An Extension"/> <min value="0"/> <max value="0"/> <base> <path value="Element.extension"/> <min value="0"/> <max value="*"/> </base> <type> <code value="Extension"/> </type> </element> <element id="Extension.extension:type.url"> <path value="Extension.extension.url"/> <representation value="xmlAttr"/> <short value="identifies the meaning of the extension"/> <definition value="Source of the definition for the extension code - a logical name or a URL."/> <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension."/> <min value="1"/> <max value="1"/> <base> <path value="Extension.url"/> <min value="1"/> <max value="1"/> </base> <type> <code value="uri"/> </type> <fixedUri value="Type"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:type.valueCodeableConcept"> <path value="Extension.extension.valueCodeableConcept"/> <short value="Value of extension"/> <definition value="Value of extension - may be a resource or one of a constrained set of the data types (see Extensibility in the spec for list)."/> <min value="0"/> <max value="1"/> <base> <path value="Extension.value[x]"/> <min value="0"/> <max value="1"/> </base> <type> <code value="CodeableConcept"/> </type> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.url"> <path value="Extension.url"/> <representation value="xmlAttr"/> <short value="identifies the meaning of the extension"/> <definition value="Source of the definition for the extension code - a logical name or a URL."/> <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension."/> <min value="1"/> <max value="1"/> <base> <path value="Extension.url"/> <min value="1"/> <max value="1"/> </base> <type> <code value="uri"/> </type> <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange"/> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.value[x]"> <path value="Extension.value[x]"/> <short value="Value of extension"/> <definition value="Value of extension - may be a resource or one of a constrained set of the data types (see Extensibility in the spec for list)."/> <min value="0"/> <max value="0"/> <base> <path value="Extension.value[x]"/> <min value="0"/> <max value="1"/> </base> <type> <code value="base64Binary"/> </type> <type> <code value="boolean"/> </type> <type> <code value="code"/> </type> <type> <code value="date"/> </type> <type> <code value="dateTime"/> </type> <type> <code value="decimal"/> </type> <type> <code value="id"/> </type> <type> <code value="instant"/> </type> <type> <code value="integer"/> </type> <type> <code value="markdown"/> </type> <type> <code value="oid"/> </type> <type> <code value="positiveInt"/> </type> <type> <code value="string"/> </type> <type> <code value="time"/> </type> <type> <code value="unsignedInt"/> </type> <type> <code value="uri"/> </type> <type> <code value="Address"/> </type> <type> <code value="Age"/> </type> <type> <code value="Annotation"/> </type> <type> <code value="Attachment"/> </type> <type> <code value="CodeableConcept"/> </type> <type> <code value="Coding"/> </type> <type> <code value="ContactPoint"/> </type> <type> <code value="Count"/> </type> <type> <code value="Distance"/> </type> <type> <code value="Duration"/> </type> <type> <code value="HumanName"/> </type> <type> <code value="Identifier"/> </type> <type> <code value="Money"/> </type> <type> <code value="Period"/> </type> <type> <code value="Quantity"/> </type> <type> <code value="Range"/> </type> <type> <code value="Ratio"/> </type> <type> <code value="Reference"/> </type> <type> <code value="SampledData"/> </type> <type> <code value="Signature"/> </type> <type> <code value="Timing"/> </type> <type> <code value="Dosage"/> </type> <type> <code value="ContactDetail"/> </type> <type> <code value="Contributor"/> </type> <type> <code value="DataRequirement"/> </type> <type> <code value="ParameterDefinition"/> </type> <type> <code value="RelatedArtifact"/> </type> <type> <code value="TriggerDefinition"/> </type> <type> <code value="UsageContext"/> </type> <type> <code value="Meta"/> </type> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> </snapshot> <differential> <element id="Extension"> <path value="Extension"/> <short value="AminoAcidChange"/> <definition value="AminoAcidChange information."/> <min value="0"/> <max value="1"/> <mapping> <identity value="v2"/> <map value="N/A"/> </mapping> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:name"> <path value="Extension.extension"/> <sliceName value="Name"/> <short value="HGVS nomenclature for observed Amino Acid Change"/> <definition value="Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide ([SO:0001237](http://www.sequenceon tology.org/browser/current_svn/term/SO:0001237)). LOINC Code: ([48005-3](http://loinc.org/48005-3))."/> <min value="0"/> <max value="1"/> <type> <code value="Extension"/> </type> <mapping> <identity value="v2"/> <map value="N/A"/> </mapping> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:name.extension"> <path value="Extension.extension.extension"/> <max value="0"/> </element> <element id="Extension.extension:name.url"> <path value="Extension.extension.url"/> <type> <code value="uri"/> </type> <fixedUri value="Name"/> </element> <element id="Extension.extension:name.valueCodeableConcept"> <path value="Extension.extension.valueCodeableConcept"/> <type> <code value="CodeableConcept"/> </type> <binding> <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> <valueString value="ClinVar-variant-database"/> </extension> <strength value="preferred"/> <description value="NCBI central repository of potentially clinically relevant variants"/> <valueSetUri value="http://www.ncbi.nlm.nih.gov/clinvar/variation"/> </binding> </element> <element id="Extension.extension:type"> <path value="Extension.extension"/> <sliceName value="Type"/> <short value="Amino Acid Change Type"/> <definition value="Codified type for associated Amino Acid Change. LOINC Code: ([48006-1](http://loinc.org/48006-1))."/> <min value="0"/> <max value="1"/> <type> <code value="Extension"/> </type> <mapping> <identity value="v2"/> <map value="N/A"/> </mapping> <mapping> <identity value="rim"/> <map value="N/A"/> </mapping> </element> <element id="Extension.extension:type.extension"> <path value="Extension.extension.extension"/> <max value="0"/> </element> <element id="Extension.extension:type.url"> <path value="Extension.extension.url"/> <type> <code value="uri"/> </type> <fixedUri value="Type"/> </element> <element id="Extension.extension:type.valueCodeableConcept"> <path value="Extension.extension.valueCodeableConcept"/> <type> <code value="CodeableConcept"/> </type> </element> <element id="Extension.url"> <path value="Extension.url"/> <type> <code value="uri"/> </type> <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange"/> </element> <element id="Extension.value[x]"> <path value="Extension.value[x]"/> <min value="0"/> <max value="0"/> </element> </differential> </StructureDefinition>
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.