This page is part of the FHIR Specification (v4.2.0: R5 Preview #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 R3
Orders and Observations Work Group | Maturity Level: 1 | Informative | Use Context: Any |
URL for this extension:
http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
Status: draft. Extension maintained by: Health Level Seven International (Clinical Genomics)
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
Summary
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
CopyNumberEvent | 0..1 | CodeableConcept | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent CopyNumberEvent: A variation that increases or decreases the copy number of a given region (SO:0001019). Values: amplification/deletion/LOH. Use on Element ID Observation | |
Documentation for this format |
Full Structure
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
extension | 0..1 | Extension | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent CopyNumberEvent: A variation that increases or decreases the copy number of a given region (SO:0001019). Values: amplification/deletion/LOH. Use on Element ID Observation | |
extension | I | 0..0 | ||
url | 1..1 | uri | "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent" | |
value[x] | I | 1..1 | CodeableConcept | Value of extension |
Documentation for this format |
XML Template
<!-- CopyNumberEvent --> <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>
JSON Template
{ // 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 }
Summary
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
CopyNumberEvent | 0..1 | CodeableConcept | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent CopyNumberEvent: A variation that increases or decreases the copy number of a given region (SO:0001019). Values: amplification/deletion/LOH. Use on Element ID Observation | |
Documentation for this format |
Full Structure
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
extension | 0..1 | Extension | URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent CopyNumberEvent: A variation that increases or decreases the copy number of a given region (SO:0001019). Values: amplification/deletion/LOH. Use on Element ID Observation | |
extension | I | 0..0 | ||
url | 1..1 | uri | "http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent" | |
value[x] | I | 1..1 | CodeableConcept | Value of extension |
Documentation for this format |
XML Template
<!-- CopyNumberEvent --> <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>
JSON Template
{ // 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