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HL7CGModels - Local Development build (v0.1.0). See the Directory of published versions

Logical Model: GenomeSequenceDesignation - Detailed Descriptions

Active as of 2022-03-10

Definitions for the GenomeSequenceDesignation logical model.

1. GenomeSequenceDesignation
Definition

Datatype to support FHIR Genomics. This datatype supports representations like GRCH38.p13 Chromosome 1

Control0..* This element is affected by the following invariants: ele-1
InvariantsDefined on this element
ele-1: All FHIR elements must have a @value or children (: hasValue() or (children().count() > id.count()))
2. GenomeSequenceDesignation.id
Definition

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

Control0..1
Typestring
3. GenomeSequenceDesignation.extension
Definition

May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.

Control0..*
TypeExtension
Alternate Namesextensions, user content
Comments

There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.

InvariantsDefined on this element
ele-1: All FHIR elements must have a @value or children (: hasValue() or (children().count() > id.count()))
ext-1: Must have either extensions or value[x], not both (: extension.exists() != value.exists())
SlicingThis element introduces a set of slices on GenomeSequenceDesignation.extension. The slices are unordered and Open, and can be differentiated using the following discriminators:
  • value @ url
4. GenomeSequenceDesignation.build
Definition

The identifier of a genome build, which contains a sequence of interest.

Control1..1
TypeIdentifier
5. GenomeSequenceDesignation.organism
Definition

The organism corresponding to the genome sequence, preferably expressed using an NCBI taxonomy code.

Control0..1
TypeCodeableConcept
6. GenomeSequenceDesignation.description
Definition

A description of the genome sequence.

Control0..1
Typestring
7. GenomeSequenceDesignation.accession
Definition

The accession number of the Genome Build

Control0..1
TypeCodeableConcept
8. GenomeSequenceDesignation.chromosome
Definition

The name or number (preferably coded) of the chromosome represented by the genome sequence.

Control1..1
TypeCodeableConcept