2nd DSTU Draft For Comment

This page is part of the FHIR Specification (v0.4.0: DSTU 2 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 Variant allelic state - Definition

URL for this extension: 

http://hl7.org/fhir/ProfilegeneticsAllelicState

Status: draft

The level of occurrence of a single DNA Sequence Variation. Heterozygous:Variation present in one of the two genes of homologous chromosomes, while Homozygous means that it is present in both genes. Hemizygous: Variation exists in the only single copy of a gene in a non-homologous chromosome (i.e. male X and Y chromosome). Hemiplasmic indicates that the DNA Sequence Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic: Variation is present in all of the copies of mitochondrial DNA. LOINC Answer List values 53034-5.

Mollie Ullman-Cullere

usage info: todo

Extension Content

Structure

NameFlagsCard.TypeDescription & Constraintsdoco
.. extensionExtensionURL = http://hl7.org/fhir/ProfilegeneticsAllelicState
Variant allelic state: The level of occurrence of a single DNA Sequence Variation. Heterozygous:Variation present in one of the two genes of homologous chromosomes, while Homozygous means that it is present in both genes. Hemizygous: Variation exists in the only single copy of a gene in a non-homologous chromosome (i.e. male X and Y chromosome). Hemiplasmic indicates that the DNA Sequence Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic: Variation is present in all of the copies of mitochondrial DNA. LOINC Answer List values 53034-5.
Use on element: Observation
..valueString 0..1stringVariant allelic state
Use on element: Observation

XML Template

<!-- Variant allelic state -->doco

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/ProfilegeneticsAllelicState" >
 <!-- from Element: extension -->
 <valueString value="[string]"/>
</extension>

JSON Template

// extension added to existing objectdoco

  "http://hl7.org/fhir/ProfilegeneticsAllelicState" : { // Variant allelic state
    "valueString" : ["<string>"] //Variant allelic state
  }

Structure

NameFlagsCard.TypeDescription & Constraintsdoco
.. extensionExtensionURL = http://hl7.org/fhir/ProfilegeneticsAllelicState
Variant allelic state: The level of occurrence of a single DNA Sequence Variation. Heterozygous:Variation present in one of the two genes of homologous chromosomes, while Homozygous means that it is present in both genes. Hemizygous: Variation exists in the only single copy of a gene in a non-homologous chromosome (i.e. male X and Y chromosome). Hemiplasmic indicates that the DNA Sequence Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic: Variation is present in all of the copies of mitochondrial DNA. LOINC Answer List values 53034-5.
Use on element: Observation
..valueString 0..1stringVariant allelic state
Use on element: Observation

XML Template

<!-- Variant allelic state -->doco

<extension xmlns="http://hl7.org/fhir"
     url="http://hl7.org/fhir/ProfilegeneticsAllelicState" >
 <!-- from Element: extension -->
 <valueString value="[string]"/>
</extension>

JSON Template

to do