This page is part of the FHIR Specification (v4.1.0: Release 4B 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
. 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 | 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 | |
|    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 | |
|     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 | |
|     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 | |||
|     valueCoding | Coding | |||
|     valueContactPoint | ContactPoint | |||
|     valueCount | Count | |||
|     valueDistance | Distance | |||
|     valueDuration | Duration | |||
|     valueHumanName | HumanName | |||
|     valueIdentifier | Identifier | |||
|     valueMoney | Money | |||
|     valuePeriod | Period | |||
|     valueQuantity | Quantity | |||
|     valueRange | Range | |||
|     valueRatio | Ratio | |||
|     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 50:
  }
 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 | 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 | |
|    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 | |
|     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 | |
|     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 | |||
|     valueCoding | Coding | |||
|     valueContactPoint | ContactPoint | |||
|     valueCount | Count | |||
|     valueDistance | Distance | |||
|     valueDuration | Duration | |||
|     valueHumanName | HumanName | |||
|     valueIdentifier | Identifier | |||
|     valueMoney | Money | |||
|     valuePeriod | Period | |||
|     valueQuantity | Quantity | |||
|     valueRange | Range | |||
|     valueRatio | Ratio | |||
|     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 50:
  }
 
Constraints