R6 Ballot (2nd Draft)

Publish-box (todo)

10.8.12.14 StructureDefinition: MolecularDefinitionGenotype

Clinical Genomics icon Work Group  Maturity Level: 0 Trial Use Use Context: Any

The canonical URL for this profile is: 

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

FHIR Genotype Profile

This profile was published on Thu, Dec 21, 2023 00:00+0800 as a draft by HL7 International / Clinical Genomics.

10.8.12.14.1 Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work.

This structure is derived from MolecularDefinition.

Summary

to do

Mandatory: 1 element
Prohibited: 4 elements

Structures

This structure refers to these other structures:

This indicates the differences between this profile and the base MolecularDefinition structure.

Name iconFlags iconCard. iconType iconDescription & Constraints icondoco icon
.. MolecularDefinition 0..* MolecularDefinition FHIR Genotype Profile
... type 1..1 code Sequence type, e.g., aa, dna, or rna
... location 0..1 BackboneElement Location of this molecule
... memberState 0..* Reference(Molecular Definition as Allele Profile | Molecular Definition as Haplotype Profile) Member
... representation
.... extracted 0..0
.... repeated 0..0
.... concatenated 0..0
.... relative 0..0

doco Documentation for this format icon

This provides the consolidated view (aka snapshot) of the profile after applying the changes in this profile to the base MolecularDefinition structure.

Name iconFlags iconCard. iconType iconDescription & Constraints icondoco icon
.. MolecularDefinition 0..* MolecularDefinition FHIR Genotype Profile
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... language 0..1 code Language of the resource content
Binding: All Languages (required): IETF language tag for a human language

Additional BindingsPurpose
Common Languages Starter Set
... text 0..1 Narrative Text summary of the resource, for human interpretation
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Unique ID for this particular resource
... type Σ 1..1 code Sequence type, e.g., aa, dna, or rna
Binding: sequence Type (required): Type of a molecule -- DNA, RNA, or amino acid sequence.

... location Σ 0..1 BackboneElement Location of this molecule
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... sequenceLocation Σ 0..1 BackboneElement Location of this molecule in context of a sequence
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... sequenceContext Σ 1..1 Reference(MolecularDefinition) Reference sequence
..... coordinateInterval Σ 0..1 BackboneElement Coordinate Interval for this location
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... numberingSystem Σ 0..1 CodeableConcept Coordinate System
...... start[x] Σ 0..1 Start
....... startQuantity Quantity
....... startRange Range
...... end[x] Σ 0..1 End
....... endQuantity Quantity
....... endRange Range
..... strand 0..1 CodeableConcept Forward or Reverse
.... cytobandLocation Σ 0..1 BackboneElement Location of this molecule in context of a cytoband
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... genomeAssembly Σ 1..1 BackboneElement Reference Genome
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... organism 0..1 CodeableConcept Species of the organism
...... build 0..1 CodeableConcept Build number
...... accession 0..1 CodeableConcept Accession
...... description[x] 0..1 Genome assemble description
....... descriptionMarkdown markdown
....... descriptionString string
..... cytobandInterval Σ 1..1 BackboneElement Cytoband Interval
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... chromosome Σ 1..1 CodeableConcept Chromosome
...... startCytoband Σ 0..1 BackboneElement Start
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... arm[x] 0..1 Arm
........ armCode code
........ armString string
....... region[x] 0..1 Region
........ regionCode code
........ regionString string
....... band[x] 0..1 Band
........ bandCode code
........ bandString string
....... subBand[x] 0..1 Sub-band
........ subBandCode code
........ subBandString string
...... endCytoband Σ 0..1 BackboneElement End
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... arm[x] 0..1 Arm
........ armCode code
........ armString string
....... region[x] 0..1 Region
........ regionCode code
........ regionString string
....... band[x] 0..1 Band
........ bandCode code
........ bandString string
....... subBand[x] 0..1 SuBand
........ subBandCode code
........ subBandString string
.... featureLocation Σ 0..* BackboneElement Location in context of a feature
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... geneId Σ 0..* CodeableConcept Gene Id
... memberState Σ 0..* Reference(Molecular Definition as Allele Profile | Molecular Definition as Haplotype Profile) Member
... representation Σ 0..* BackboneElement Representation
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... focus Σ 0..1 CodeableConcept The focus of the representation
.... code Σ 0..* CodeableConcept A code of the representation
.... literal Σ 0..1 BackboneElement A literal representation
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... encoding Σ 0..1 CodeableConcept The encoding used for the expression of the primary sequence
..... value Σ 1..1 string The primary (linear) sequence, expressed as a literal string
.... resolvable Σ 0..1 Attachment A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself

doco Documentation for this format icon
<!-- MolecularDefinitionGenotype -->doco

<MolecularDefinition xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id value="[id]"/><!-- 0..1 Logical id of this artifact -->
 <meta><!-- I 0..1 Meta Metadata about the resource --></meta>
 <implicitRules value="[uri]"/><!-- I 0..1 A set of rules under which this content was created -->
 <language value="[code]"/><!-- I 0..1 Language of the resource content   -->
 <text><!-- I 0..1 Narrative 
     Text summary of the resource, for human interpretation --></text>
 <contained><!-- 0..* Resource 
     Contained, inline Resources --></contained>
 <modifierExtension><!-- I 0..* Extension  Extensions that cannot be ignored  --></modifierExtension>
 <identifier><!-- I 0..* Identifier 
     Unique ID for this particular resource --></identifier>
 <type value="[code]"/><!-- I 1..1 Sequence type, e.g., aa, dna, or rna   -->
 <location> I 0..1 BackboneElement  <!-- I 0..1 Location of this molecule -->
  <modifierExtension><!-- I 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <sequenceLocation> I 0..1 BackboneElement  <!-- I 0..1 Location of this molecule in context of a sequence -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <sequenceContext><!-- I 1..1 
     Reference(MolecularDefinition) Reference sequence --></sequenceContext>
   <coordinateInterval> I 0..1 
     BackboneElement  <!-- I 0..1 Coordinate Interval for this location -->
    <modifierExtension><!-- I 0..* 
      Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
    <numberingSystem><!-- I 0..1 
      CodeableConcept 
        Coordinate System --></numberingSystem>
    <start[x]><!-- I 0..1 
      Quantity|Range 
        Start --></start[x]>
    <end[x]><!-- I 0..1 
      Quantity|Range End --></end[x]>
   </coordinateInterval>
   <strand><!-- I 0..1 
     CodeableConcept Forward or Reverse --></strand>
  </sequenceLocation>
  <cytobandLocation> I 0..1 BackboneElement  <!-- I 0..1 Location of this molecule in context of a cytoband -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <genomeAssembly> I 1..1 
     BackboneElement  <!-- I 1..1 Reference Genome -->
    <modifierExtension><!-- I 0..* 
      Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
    <organism><!-- I 0..1 
      CodeableConcept 
        Species of the organism --></organism>
    <build><!-- I 0..1 
      CodeableConcept 
        Build number --></build>
    <accession><!-- I 0..1 
      CodeableConcept 
        Accession --></accession>
    <description[x]><!-- I 0..1 
      markdown|string 
        Genome assemble description --></description[x]>
   </genomeAssembly>
   <cytobandInterval> I 1..1 
     BackboneElement  <!-- I 1..1 Cytoband Interval -->
    <modifierExtension><!-- I 0..* 
      Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
    <chromosome><!-- I 1..1 
      CodeableConcept 
        Chromosome --></chromosome>
    <startCytoband> I 0..1 
      BackboneElement  <!-- I 0..1 Start -->
     <modifierExtension><!-- I 0..* 
       Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
     <arm[x]><!-- I 0..1 
       code|string 
         Arm --></arm[x]>
     <region[x]><!-- I 0..1 
       code|string 
         Region --></region[x]>
     <band[x]><!-- I 0..1 
       code|string 
         Band --></band[x]>
     <subBand[x]><!-- I 0..1 
       code|string 
         Sub-band --></subBand[x]>
    </startCytoband>
    <endCytoband> I 0..1 
      BackboneElement  <!-- I 0..1 End -->
     <modifierExtension><!-- I 0..* 
       Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
     <arm[x]><!-- I 0..1 
       code|string 
         Arm --></arm[x]>
     <region[x]><!-- I 0..1 
       code|string 
         Region --></region[x]>
     <band[x]><!-- I 0..1 
       code|string 
         Band --></band[x]>
     <subBand[x]><!-- I 0..1 
       code|string 
         SuBand --></subBand[x]>
    </endCytoband>
   </cytobandInterval>
  </cytobandLocation>
  <featureLocation> I 0..* BackboneElement  <!-- I 0..* Location in context of a feature -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <geneId><!-- I 0..* 
     CodeableConcept Gene Id --></geneId>
  </featureLocation>
 </location>
 <memberState><!-- I 0..* Reference(MolecularDefinitionAllele) Member --></memberState>
 <representation> I 0..* BackboneElement  <!-- I 0..* Representation -->
  <modifierExtension><!-- I 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <focus><!-- I 0..1 CodeableConcept 
      The focus of the representation --></focus>
  <code><!-- I 0..* CodeableConcept 
      A code of the representation --></code>
  <literal> I 0..1 BackboneElement  <!-- I 0..1 A literal representation -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <encoding><!-- I 0..1 
     CodeableConcept 
       The encoding used for the expression of the primary sequence --></encoding>
   <value value="[string]"/><!-- I 1..1 
       The primary (linear) sequence, expressed as a literal string -->
  </literal>
  <resolvable><!-- I 0..1 Attachment 
      A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself --></resolvable>
  <extracted> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence -->
  </extracted>
  <repeated> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Sequence that is represented as a repeated sequence motif -->
  </repeated>
  <concatenated> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences -->
  </concatenated>
  <relative> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence -->
  </relative>
 </representation>
</MolecularDefinition>

{ // MolecularDefinitionGenotype
  // from Element: extension
    "meta" : { Meta }, // IMetadata about the resource
    "implicitRules" : "<uri>", // IA set of rules under which this content was created
    "language" : "<code>", // ILanguage of the resource content
    "text" : { Narrative }, // IText summary of the resource, for human interpretation
    "contained" : [{ Resource }], //Contained, inline Resources
    "modifierExtension" : [{ Extension }], // IExtensions that cannot be ignored
    "identifier" : [{ Identifier }], // IUnique ID for this particular resource
    "type" : "<code>", // I R! Sequence type, e.g., aa, dna, or rna
    "location" : { BackboneElement }, // ILocation of this molecule
    "memberState" : [{ Reference(allele) }], // IMember
    "representation" : [{ BackboneElement }] // IRepresentation
  }

This structure is derived from MolecularDefinition.

Summary

to do

Mandatory: 1 element
Prohibited: 4 elements

Structures

This structure refers to these other structures:

Differential View

This indicates the differences between this profile and the base MolecularDefinition structure.

Snapshot View

This provides the consolidated view (aka snapshot) of the profile after applying the changes in this profile to the base MolecularDefinition structure.

Name iconFlags iconCard. iconType iconDescription & Constraints icondoco icon
.. MolecularDefinition 0..* MolecularDefinition FHIR Genotype Profile
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... language 0..1 code Language of the resource content
Binding: All Languages (required): IETF language tag for a human language

Additional BindingsPurpose
Common Languages Starter Set
... text 0..1 Narrative Text summary of the resource, for human interpretation
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier Unique ID for this particular resource
... type Σ 1..1 code Sequence type, e.g., aa, dna, or rna
Binding: sequence Type (required): Type of a molecule -- DNA, RNA, or amino acid sequence.

... location Σ 0..1 BackboneElement Location of this molecule
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... sequenceLocation Σ 0..1 BackboneElement Location of this molecule in context of a sequence
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... sequenceContext Σ 1..1 Reference(MolecularDefinition) Reference sequence
..... coordinateInterval Σ 0..1 BackboneElement Coordinate Interval for this location
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... numberingSystem Σ 0..1 CodeableConcept Coordinate System
...... start[x] Σ 0..1 Start
....... startQuantity Quantity
....... startRange Range
...... end[x] Σ 0..1 End
....... endQuantity Quantity
....... endRange Range
..... strand 0..1 CodeableConcept Forward or Reverse
.... cytobandLocation Σ 0..1 BackboneElement Location of this molecule in context of a cytoband
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... genomeAssembly Σ 1..1 BackboneElement Reference Genome
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... organism 0..1 CodeableConcept Species of the organism
...... build 0..1 CodeableConcept Build number
...... accession 0..1 CodeableConcept Accession
...... description[x] 0..1 Genome assemble description
....... descriptionMarkdown markdown
....... descriptionString string
..... cytobandInterval Σ 1..1 BackboneElement Cytoband Interval
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
...... chromosome Σ 1..1 CodeableConcept Chromosome
...... startCytoband Σ 0..1 BackboneElement Start
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... arm[x] 0..1 Arm
........ armCode code
........ armString string
....... region[x] 0..1 Region
........ regionCode code
........ regionString string
....... band[x] 0..1 Band
........ bandCode code
........ bandString string
....... subBand[x] 0..1 Sub-band
........ subBandCode code
........ subBandString string
...... endCytoband Σ 0..1 BackboneElement End
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
....... arm[x] 0..1 Arm
........ armCode code
........ armString string
....... region[x] 0..1 Region
........ regionCode code
........ regionString string
....... band[x] 0..1 Band
........ bandCode code
........ bandString string
....... subBand[x] 0..1 SuBand
........ subBandCode code
........ subBandString string
.... featureLocation Σ 0..* BackboneElement Location in context of a feature
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... geneId Σ 0..* CodeableConcept Gene Id
... memberState Σ 0..* Reference(Molecular Definition as Allele Profile | Molecular Definition as Haplotype Profile) Member
... representation Σ 0..* BackboneElement Representation
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... focus Σ 0..1 CodeableConcept The focus of the representation
.... code Σ 0..* CodeableConcept A code of the representation
.... literal Σ 0..1 BackboneElement A literal representation
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... encoding Σ 0..1 CodeableConcept The encoding used for the expression of the primary sequence
..... value Σ 1..1 string The primary (linear) sequence, expressed as a literal string
.... resolvable Σ 0..1 Attachment A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself

doco Documentation for this format icon

XML Template

<!-- MolecularDefinitionGenotype -->doco

<MolecularDefinition xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id value="[id]"/><!-- 0..1 Logical id of this artifact -->
 <meta><!-- I 0..1 Meta Metadata about the resource --></meta>
 <implicitRules value="[uri]"/><!-- I 0..1 A set of rules under which this content was created -->
 <language value="[code]"/><!-- I 0..1 Language of the resource content   -->
 <text><!-- I 0..1 Narrative 
     Text summary of the resource, for human interpretation --></text>
 <contained><!-- 0..* Resource 
     Contained, inline Resources --></contained>
 <modifierExtension><!-- I 0..* Extension  Extensions that cannot be ignored  --></modifierExtension>
 <identifier><!-- I 0..* Identifier 
     Unique ID for this particular resource --></identifier>
 <type value="[code]"/><!-- I 1..1 Sequence type, e.g., aa, dna, or rna   -->
 <location> I 0..1 BackboneElement  <!-- I 0..1 Location of this molecule -->
  <modifierExtension><!-- I 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <sequenceLocation> I 0..1 BackboneElement  <!-- I 0..1 Location of this molecule in context of a sequence -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <sequenceContext><!-- I 1..1 
     Reference(MolecularDefinition) Reference sequence --></sequenceContext>
   <coordinateInterval> I 0..1 
     BackboneElement  <!-- I 0..1 Coordinate Interval for this location -->
    <modifierExtension><!-- I 0..* 
      Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
    <numberingSystem><!-- I 0..1 
      CodeableConcept 
        Coordinate System --></numberingSystem>
    <start[x]><!-- I 0..1 
      Quantity|Range 
        Start --></start[x]>
    <end[x]><!-- I 0..1 
      Quantity|Range End --></end[x]>
   </coordinateInterval>
   <strand><!-- I 0..1 
     CodeableConcept Forward or Reverse --></strand>
  </sequenceLocation>
  <cytobandLocation> I 0..1 BackboneElement  <!-- I 0..1 Location of this molecule in context of a cytoband -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <genomeAssembly> I 1..1 
     BackboneElement  <!-- I 1..1 Reference Genome -->
    <modifierExtension><!-- I 0..* 
      Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
    <organism><!-- I 0..1 
      CodeableConcept 
        Species of the organism --></organism>
    <build><!-- I 0..1 
      CodeableConcept 
        Build number --></build>
    <accession><!-- I 0..1 
      CodeableConcept 
        Accession --></accession>
    <description[x]><!-- I 0..1 
      markdown|string 
        Genome assemble description --></description[x]>
   </genomeAssembly>
   <cytobandInterval> I 1..1 
     BackboneElement  <!-- I 1..1 Cytoband Interval -->
    <modifierExtension><!-- I 0..* 
      Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
    <chromosome><!-- I 1..1 
      CodeableConcept 
        Chromosome --></chromosome>
    <startCytoband> I 0..1 
      BackboneElement  <!-- I 0..1 Start -->
     <modifierExtension><!-- I 0..* 
       Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
     <arm[x]><!-- I 0..1 
       code|string 
         Arm --></arm[x]>
     <region[x]><!-- I 0..1 
       code|string 
         Region --></region[x]>
     <band[x]><!-- I 0..1 
       code|string 
         Band --></band[x]>
     <subBand[x]><!-- I 0..1 
       code|string 
         Sub-band --></subBand[x]>
    </startCytoband>
    <endCytoband> I 0..1 
      BackboneElement  <!-- I 0..1 End -->
     <modifierExtension><!-- I 0..* 
       Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
     <arm[x]><!-- I 0..1 
       code|string 
         Arm --></arm[x]>
     <region[x]><!-- I 0..1 
       code|string 
         Region --></region[x]>
     <band[x]><!-- I 0..1 
       code|string 
         Band --></band[x]>
     <subBand[x]><!-- I 0..1 
       code|string 
         SuBand --></subBand[x]>
    </endCytoband>
   </cytobandInterval>
  </cytobandLocation>
  <featureLocation> I 0..* BackboneElement  <!-- I 0..* Location in context of a feature -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <geneId><!-- I 0..* 
     CodeableConcept Gene Id --></geneId>
  </featureLocation>
 </location>
 <memberState><!-- I 0..* Reference(MolecularDefinitionAllele) Member --></memberState>
 <representation> I 0..* BackboneElement  <!-- I 0..* Representation -->
  <modifierExtension><!-- I 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <focus><!-- I 0..1 CodeableConcept 
      The focus of the representation --></focus>
  <code><!-- I 0..* CodeableConcept 
      A code of the representation --></code>
  <literal> I 0..1 BackboneElement  <!-- I 0..1 A literal representation -->
   <modifierExtension><!-- I 0..* 
     Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
   <encoding><!-- I 0..1 
     CodeableConcept 
       The encoding used for the expression of the primary sequence --></encoding>
   <value value="[string]"/><!-- I 1..1 
       The primary (linear) sequence, expressed as a literal string -->
  </literal>
  <resolvable><!-- I 0..1 Attachment 
      A resolvable representation of a molecule that optionally contains formatting in addition to the specification of the primary sequence itself --></resolvable>
  <extracted> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Sequence that is represented as an extracted portion of a different Molecular Sequence -->
  </extracted>
  <repeated> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Sequence that is represented as a repeated sequence motif -->
  </repeated>
  <concatenated> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Sequence that is represented as an ordered concatenation of two or more Molecular Sequences -->
  </concatenated>
  <relative> I 0..0 BackboneElement  <!-- I 0..0 A Molecular Definition that is represented as an ordered series of edits on a specified starting sequence -->
  </relative>
 </representation>
</MolecularDefinition>

JSON Template

{ // MolecularDefinitionGenotype
  // from Element: extension
    "meta" : { Meta }, // IMetadata about the resource
    "implicitRules" : "<uri>", // IA set of rules under which this content was created
    "language" : "<code>", // ILanguage of the resource content
    "text" : { Narrative }, // IText summary of the resource, for human interpretation
    "contained" : [{ Resource }], //Contained, inline Resources
    "modifierExtension" : [{ Extension }], // IExtensions that cannot be ignored
    "identifier" : [{ Identifier }], // IUnique ID for this particular resource
    "type" : "<code>", // I R! Sequence type, e.g., aa, dna, or rna
    "location" : { BackboneElement }, // ILocation of this molecule
    "memberState" : [{ Reference(allele) }], // IMember
    "representation" : [{ BackboneElement }] // IRepresentation
  }

 

Alternate definitions: Master Definition (XML, JSON), Schematron

10.8.12.14.2 Terminology Bindings

Path Name Conformance ValueSet
MolecularDefinition.language All Languages required All Languages
MolecularDefinition.type sequence Type required sequence Type
MolecularDefinition.representation.relative.edit.coordinateSystem ?ext extensible http://loinc.org/LL5323-2/ icon
. .