This page is part of the FHIR Specification (v4.3.0: R4B - STU). 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 R3

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Extension: CopyNumberEvent

URL for this extension:

http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent

Status: draft. Extension maintained by: Health Level Seven International (Clinical Genomics)

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. A variation that increases or decreases the copy number of a given region (SO:0001019). Values: amplification/deletion/LOH.

Comment:

Loss of heterozygosity (LOH) is a functional variant whereby the sequence alteration causes a loss of function of one allele of a gene (SO:0001786).

Context of Use: Use on Element ID Observation

Extension Content

<!-- CopyNumberEvent -->doco 
<extension xmlns="http://hl7.org/fhir"
 url="http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent" >
 <!-- from Element: extension -->
 <valueCodeableConcept><!-- ?? 1..1 CodeableConcept  Value of extension --></valueCodeableConcept>
</extension>

{ // CopyNumberEvent
 // from Element: extension
 "extension" : [ //  sliced by value:url in the specified order, Open ]
 "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent", // R! 
 "valueCodeableConcept" : { CodeableConcept  } // C? R! Value of extension
 }

<!-- CopyNumberEvent -->doco 
<extension xmlns="http://hl7.org/fhir"
 url="http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent" >
 <!-- from Element: extension -->
 <valueCodeableConcept><!-- ?? 1..1 CodeableConcept  Value of extension --></valueCodeableConcept>
</extension>

{ // CopyNumberEvent
 // from Element: extension
 "extension" : [ //  sliced by value:url in the specified order, Open ]
 "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent", // R! 
 "valueCodeableConcept" : { CodeableConcept  } // C? R! Value of extension
 }

Constraints

• ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource (xpath: @value|f:*|h:div|self::f:Parameters)
• ext-1: Must have either extensions or value[x], not both (xpath: exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')]))
• ele-1: On Extension.extension: All FHIR elements must have a @value or children (xpath on Extension.extension: @value|f:*|h:div)
• ext-1: On Extension.extension: Must have either extensions or value[x], not both (xpath on Extension.extension: exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")]))
• ele-1: On Extension.value[x]: All FHIR elements must have a @value or children (xpath on Extension.value[x]: @value|f:*|h:div)