Connectathon 11 Snapshot

This page is part of the FHIR Specification (v1.2.0: 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: AllelicState

URL for this extension:

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

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

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).

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/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
Documentation for this format

Fulle Structure

Name	Card.	Type	Description & Constraints
extension	0..1	Extension	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
extension	0..0
url	1..1	uri	"http://hl7.org/fhir/StructureDefinition/geneticsAllelicState"
valueCodeableConcept	1..1	CodeableConcept	Value of extension
Documentation for this format

XML Template

<!-- AllelicState -->

<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
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
Documentation for this format

Full Structure

Name	Card.	Type	Description & Constraints
extension	0..1	Extension	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
extension	0..0
url	1..1	uri	"http://hl7.org/fhir/StructureDefinition/geneticsAllelicState"
valueCodeableConcept	1..1	CodeableConcept	Value of extension
Documentation for this format

XML Template

<!-- AllelicState -->

<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
  }