STU3 Candidate

This page is part of the FHIR Specification (v1.8.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

Extension: The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous

(No assigned work group)

Maturity Level: 0

Context: Any

URL for this extension:

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

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

The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LONIC Code: (53034-5).

Context of Use: Use on element: Observation

usage info: insert a list of places where this extension is used

Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	CodeableConcept	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous: The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LONIC Code: ([53034-5](http://loinc.org/53034-5)). Use on element: Observation
Documentation for this format

Fulle Structure

Name	Card.	Type	Description & Constraints
extension	0..1	Extension	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous: The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LONIC Code: ([53034-5](http://loinc.org/53034-5)). Use on element: Observation
extension	0..0
url	1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState"
valueCodeableConcept	1..1	CodeableConcept	Value of extension
Documentation for this format

XML Template

<!-- The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous -->

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

JSON Template

{ // The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState", // R! 
    "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
  }

Summary

Name	Flags	Card.	Type	Description & Constraints
extension		0..1	CodeableConcept	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous: The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LONIC Code: ([53034-5](http://loinc.org/53034-5)). Use on element: Observation
Documentation for this format

Full Structure

Name	Card.	Type	Description & Constraints
extension	0..1	Extension	URL = http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous: The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LONIC Code: ([53034-5](http://loinc.org/53034-5)). Use on element: Observation
extension	0..0
url	1..1	uri	"http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState"
valueCodeableConcept	1..1	CodeableConcept	Value of extension
Documentation for this format

XML Template

<!-- The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous -->

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

JSON Template

{ // The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState", // R! 
    "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
  }

Constraints

ele-1: All FHIR elements must have a @value or children (xpath: @value|f:*|h:div)
ext-1: Must have either extensions or value[x], not both (xpath: exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')]))