This page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #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: 1 | Informative | Use Context: Any |
URL for this extension:
http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
Status: draft. Extension maintained by: Health Level Seven International (Clinical Genomics)
AminoAcidChange information.
Context of Use: Use on Element ID Observation
Summary
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
AminoAcidChange | 0..1 | Extension | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange AminoAcidChange: AminoAcidChange information. Use on Element ID Observation | |
Name | 0..1 | CodeableConcept | The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the (Genomics Reporting Implementation Guide) for guidance. 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). LOINC Code: (48005-3). | |
Type | 0..1 | CodeableConcept | Codified type for associated Amino Acid Change. LOINC Code: (48006-1). | |
Documentation for this format |
Full Structure
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
extension | 0..1 | Extension | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange AminoAcidChange: AminoAcidChange information. Use on Element ID Observation | |
Slices for extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
extension:Name | 0..1 | Extension | HGVS nomenclature for observed Amino Acid Change | |
id | 0..1 | string | Unique id for inter-element referencing | |
Slices for extension | 0..0 | |||
url | 1..1 | uri | "Name" | |
value[x] | 1..1 | CodeableConcept | Value of extension Binding: ClinVar (preferred): NCBI central repository for curating pathogenicity of potentially clinically relevant variants | |
extension:Type | 0..1 | Extension | Amino Acid Change Type | |
id | 0..1 | string | Unique id for inter-element referencing | |
Slices for extension | 0..0 | |||
url | 1..1 | uri | "Type" | |
value[x] | 1..1 | CodeableConcept | Value of extension | |
url | 1..1 | uri | "http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange" | |
value[x] | 0..0 | |||
valueBase64Binary | base64Binary | |||
valueBoolean | boolean | |||
valueCanonical | canonical(Any) | |||
valueCode | code | |||
valueDate | date | |||
valueDateTime | dateTime | |||
valueDecimal | decimal | |||
valueId | id | |||
valueInstant | instant | |||
valueInteger | integer | |||
valueMarkdown | markdown | |||
valueOid | oid | |||
valuePositiveInt | positiveInt | |||
valueString | string | |||
valueTime | time | |||
valueUnsignedInt | unsignedInt | |||
valueUri | uri | |||
valueUrl | url | |||
valueUuid | uuid | |||
valueAddress | Address | |||
valueAge | Age | |||
valueAnnotation | Annotation | |||
valueAttachment | Attachment | |||
valueCodeableConcept | CodeableConcept | |||
valueCodeableReference | CodeableReference | |||
valueCoding | Coding | |||
valueContactPoint | ContactPoint | |||
valueCount | Count | |||
valueDistance | Distance | |||
valueDuration | Duration | |||
valueHumanName | HumanName | |||
valueIdentifier | Identifier | |||
valueMoney | Money | |||
valuePeriod | Period | |||
valueQuantity | Quantity | |||
valueRange | Range | |||
valueRatio | Ratio | |||
valueRatioRange | RatioRange | |||
valueReference | Reference(Any) | |||
valueSampledData | SampledData | |||
valueSignature | Signature | |||
valueTiming | Timing | |||
valueContactDetail | ContactDetail | |||
valueContributor | Contributor | |||
valueDataRequirement | DataRequirement | |||
valueExpression | Expression | |||
valueParameterDefinition | ParameterDefinition | |||
valueRelatedArtifact | RelatedArtifact | |||
valueTriggerDefinition | TriggerDefinition | |||
valueUsageContext | UsageContext | |||
valueDosage | Dosage | |||
valueMeta | Meta | |||
Documentation for this format |
XML Template
<!-- AminoAcidChange --> <extension xmlns="http://hl7.org/fhir" url="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange" > <-- extension sliced by value:url in the specified orderOpen--> <extension url="Name"> 0..1 Extension <!-- 0..1 HGVS nomenclature for observed Amino Acid Change --> <valueCodeableConcept><!-- 1..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> <extension url="Type"> 0..1 Extension <!-- 0..1 Amino Acid Change Type --> <valueCodeableConcept><!-- 1..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> </extension>
JSON Template
{ // AminoAcidChange "extension" : [ // sliced by value:url in the specified order, Open { // HGVS nomenclature for observed Amino Acid Change // C? // from Element: extension "extension" : [ // sliced by value:url in the specified order, Open ] "url" : "Name", // R! "valueCodeableConcept" : { CodeableConcept } // C? R! Value of extension }, { // Amino Acid Change Type // C? // from Element: extension "extension" : [ // sliced by value:url in the specified order, Open ] "url" : "Type", // R! "valueCodeableConcept" : { CodeableConcept } // C? R! Value of extension } ], "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange", // R! // value[x]: Value of extension. One of these 52: }
Summary
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
AminoAcidChange | 0..1 | Extension | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange AminoAcidChange: AminoAcidChange information. Use on Element ID Observation | |
Name | 0..1 | CodeableConcept | The material on this page will be removed in a future release. This content is deprecated and SHOULD NOT be used. Implementers are instead directed to the (Genomics Reporting Implementation Guide) for guidance. 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). LOINC Code: (48005-3). | |
Type | 0..1 | CodeableConcept | Codified type for associated Amino Acid Change. LOINC Code: (48006-1). | |
Documentation for this format |
Full Structure
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
extension | 0..1 | Extension | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange AminoAcidChange: AminoAcidChange information. Use on Element ID Observation | |
Slices for extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
extension:Name | 0..1 | Extension | HGVS nomenclature for observed Amino Acid Change | |
id | 0..1 | string | Unique id for inter-element referencing | |
Slices for extension | 0..0 | |||
url | 1..1 | uri | "Name" | |
value[x] | 1..1 | CodeableConcept | Value of extension Binding: ClinVar (preferred): NCBI central repository for curating pathogenicity of potentially clinically relevant variants | |
extension:Type | 0..1 | Extension | Amino Acid Change Type | |
id | 0..1 | string | Unique id for inter-element referencing | |
Slices for extension | 0..0 | |||
url | 1..1 | uri | "Type" | |
value[x] | 1..1 | CodeableConcept | Value of extension | |
url | 1..1 | uri | "http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange" | |
value[x] | 0..0 | |||
valueBase64Binary | base64Binary | |||
valueBoolean | boolean | |||
valueCanonical | canonical(Any) | |||
valueCode | code | |||
valueDate | date | |||
valueDateTime | dateTime | |||
valueDecimal | decimal | |||
valueId | id | |||
valueInstant | instant | |||
valueInteger | integer | |||
valueMarkdown | markdown | |||
valueOid | oid | |||
valuePositiveInt | positiveInt | |||
valueString | string | |||
valueTime | time | |||
valueUnsignedInt | unsignedInt | |||
valueUri | uri | |||
valueUrl | url | |||
valueUuid | uuid | |||
valueAddress | Address | |||
valueAge | Age | |||
valueAnnotation | Annotation | |||
valueAttachment | Attachment | |||
valueCodeableConcept | CodeableConcept | |||
valueCodeableReference | CodeableReference | |||
valueCoding | Coding | |||
valueContactPoint | ContactPoint | |||
valueCount | Count | |||
valueDistance | Distance | |||
valueDuration | Duration | |||
valueHumanName | HumanName | |||
valueIdentifier | Identifier | |||
valueMoney | Money | |||
valuePeriod | Period | |||
valueQuantity | Quantity | |||
valueRange | Range | |||
valueRatio | Ratio | |||
valueRatioRange | RatioRange | |||
valueReference | Reference(Any) | |||
valueSampledData | SampledData | |||
valueSignature | Signature | |||
valueTiming | Timing | |||
valueContactDetail | ContactDetail | |||
valueContributor | Contributor | |||
valueDataRequirement | DataRequirement | |||
valueExpression | Expression | |||
valueParameterDefinition | ParameterDefinition | |||
valueRelatedArtifact | RelatedArtifact | |||
valueTriggerDefinition | TriggerDefinition | |||
valueUsageContext | UsageContext | |||
valueDosage | Dosage | |||
valueMeta | Meta | |||
Documentation for this format |
XML Template
<!-- AminoAcidChange --> <extension xmlns="http://hl7.org/fhir" url="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange" > <-- extension sliced by value:url in the specified orderOpen--> <extension url="Name"> 0..1 Extension <!-- 0..1 HGVS nomenclature for observed Amino Acid Change --> <valueCodeableConcept><!-- 1..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> <extension url="Type"> 0..1 Extension <!-- 0..1 Amino Acid Change Type --> <valueCodeableConcept><!-- 1..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> </extension>
JSON Template
{ // AminoAcidChange "extension" : [ // sliced by value:url in the specified order, Open { // HGVS nomenclature for observed Amino Acid Change // C? // from Element: extension "extension" : [ // sliced by value:url in the specified order, Open ] "url" : "Name", // R! "valueCodeableConcept" : { CodeableConcept } // C? R! Value of extension }, { // Amino Acid Change Type // C? // from Element: extension "extension" : [ // sliced by value:url in the specified order, Open ] "url" : "Type", // R! "valueCodeableConcept" : { CodeableConcept } // C? R! Value of extension } ], "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange", // R! // value[x]: Value of extension. One of these 52: }
Constraints