DSTU2

This page is part of the FHIR Specification (v0.0.82: (v1.0.2: DSTU 1). 2). 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 Extension: AllelicState - Definition

URL for this extension: 


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

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

Level The level of occurance occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA variation Sequence Variation is only present in relation to one of the genomic context. two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variation 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 Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA. Here is the loinc answer List for Allelic state:1. Heteroplasmic (LA6703-8); 2. Homoplasmic (LA6704-6); 3. Homozygous (LA6705-3); 4. Heterozygous (LA6706-1); 5. Hemizygous (LA6707-9).

Context of Use: Use on element: Observation

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

Extension Content

Summary

Name Flags Card. Type Description & Constraints doco
.. extension 0..1 CodeableConcept URL = http://hl7.org/fhir/StructureDefinition/geneticsAllelicState
AllelicState: The level of occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA Sequence Variation is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variation 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 Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA. Here is the loinc answer List for Allelic state:1. Heteroplasmic (LA6703-8); 2. Homoplasmic (LA6704-6); 3. Homozygous (LA6705-3); 4. Heterozygous (LA6706-1); 5. Hemizygous (LA6707-9).
Use on element: Observation

doco Documentation for this format

Fulle Structure

identifies the meaning of the extension Fixed Value:
Name Flags Card. Type Description & Constraints doco
. . extension 0..1 Extension URL = http://hl7.org/fhir/StructureDefinition/geneticsAllelicState
AllelicState: Level The level of occurance occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA variation Sequence Variation is only present in relation to one of the genomic context. two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variation 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 Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA. Here is the loinc answer List for Allelic state:1. Heteroplasmic (LA6703-8); 2. Homoplasmic (LA6704-6); 3. Homozygous (LA6705-3); 4. Heterozygous (LA6706-1); 5. Hemizygous (LA6707-9).
Use on element: Observation
. . . extension 0..* Extension 0 .. 0 Additional Content defined by implementations
. . . url 1..1 uri http://hl7.org/fhir/StructureDefinition/geneticsAllelicState "http://hl7.org/fhir/StructureDefinition/geneticsAllelicState"
. . valueCode . valueCodeableConcept 0..1 1..1 code CodeableConcept Value of extension

doco Documentation for this format

XML Template 

<!-- AllelicState -->doco

< xmlns="http://hl7.org/fhir"

<extension xmlns="http://hl7.org/fhir"

     url="http://hl7.org/fhir/StructureDefinition/geneticsAllelicState" >
  <!-- from Element: extension -->
 <

 <valueCodeableConcept><!-- 1..1 CodeableConcept 
     Value of extension --></valueCodeableConcept>

</extension>

JSON Template 

{ // AllelicState
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/geneticsAllelicState", // R! 
    "

    "valueCodeableConcept" : { CodeableConcept } // R! Value of extension

  }

Summary

Name Flags Card. Type Description & Constraints doco
.. extension 0..1 CodeableConcept URL = http://hl7.org/fhir/StructureDefinition/geneticsAllelicState
AllelicState: The level of occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA Sequence Variation is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variation 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 Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA. Here is the loinc answer List for Allelic state:1. Heteroplasmic (LA6703-8); 2. Homoplasmic (LA6704-6); 3. Homozygous (LA6705-3); 4. Heterozygous (LA6706-1); 5. Hemizygous (LA6707-9).
Use on element: Observation

doco Documentation for this format

Full Structure

identifies the meaning of the extension Fixed Value:
Name Flags Card. Type Description & Constraints doco
. . extension 0..1 Extension URL = http://hl7.org/fhir/StructureDefinition/geneticsAllelicState
AllelicState: Level The level of occurance occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA variation Sequence Variation is only present in relation to one of the genomic context. two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variation 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 Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA. Here is the loinc answer List for Allelic state:1. Heteroplasmic (LA6703-8); 2. Homoplasmic (LA6704-6); 3. Homozygous (LA6705-3); 4. Heterozygous (LA6706-1); 5. Hemizygous (LA6707-9).
Use on element: Observation
. . . extension 0..* Extension 0 .. 0 Additional Content defined by implementations
. . . url 1..1 uri http://hl7.org/fhir/StructureDefinition/geneticsAllelicState "http://hl7.org/fhir/StructureDefinition/geneticsAllelicState"
. . valueCode . valueCodeableConcept 0..1 1..1 code CodeableConcept Value of extension

doco Documentation for this format

XML Template 

<!-- AllelicState -->doco

< xmlns="http://hl7.org/fhir"

<extension xmlns="http://hl7.org/fhir"

     url="http://hl7.org/fhir/StructureDefinition/geneticsAllelicState" >
  <!-- from Element: extension -->
 <

 <valueCodeableConcept><!-- 1..1 CodeableConcept 
     Value of extension --></valueCodeableConcept>

</extension>

JSON Template

to do 
{ // AllelicState
  // from Element: extension
    "url" : "http://hl7.org/fhir/StructureDefinition/geneticsAllelicState", // R! 
    "valueCodeableConcept" : { CodeableConcept } // R! Value of extension
  }