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Biomedical Research and Regulation Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: No defined compartments |
ShEx statement for substancenucleicacid
PREFIX fhir: <http://hl7.org/fhir/> PREFIX fhirvs: <http://hl7.org/fhir/ValueSet/> PREFIX xsd: <http://www.w3.org/2001/XMLSchema#> PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> IMPORT <string.shex> IMPORT <integer.shex> IMPORT <Identifier.shex> IMPORT <Attachment.shex> IMPORT <DomainResource.shex> IMPORT <CodeableConcept.shex> IMPORT <BackboneElement.shex> start=@<SubstanceNucleicAcid> AND {fhir:nodeRole [fhir:treeRoot]} # Nucleic acids are defined by three distinct elements: the base, sugar and linkage. Individual substance/moiety IDs will be created for each of these elements. The nucleotide sequence will be always entered in the 5’-3’ direction <SubstanceNucleicAcid> EXTENDS @<DomainResource> CLOSED { a [fhir:SubstanceNucleicAcid]?;fhir:nodeRole [fhir:treeRoot]?; fhir:sequenceType @<CodeableConcept>?; # The type of the sequence shall be # specified based on a controlled # vocabulary fhir:numberOfSubunits @<integer>?; # The number of linear sequences of # nucleotides linked through # phosphodiester bonds shall be # described. Subunits would be # strands of nucleic acids that are # tightly associated typically # through Watson-Crick base pairing. # NOTE: If not specified in the # reference source, the assumption # is that there is 1 subunit fhir:areaOfHybridisation @<string>?; # The area of hybridisation shall be # described if applicable for double # stranded RNA or DNA. The number # associated with the subunit # followed by the number associated # to the residue shall be specified # in increasing order. The # underscore “” shall be used as # separator as follows: # “Subunitnumber Residue” fhir:oligoNucleotideType @<CodeableConcept>?; # (TBC) fhir:subunit @<OneOrMore_SubstanceNucleicAcid.subunit>?; # Subunits are listed in order of # decreasing length; sequences of # the same length will be ordered by # molecular weight; subunits that # have identical sequences will be # repeated multiple times } # The linkages between sugar residues will also be captured <SubstanceNucleicAcid.subunit.linkage> EXTENDS @<BackboneElement> CLOSED { fhir:connectivity @<string>?; # The entity that links the sugar # residues together should also be # captured for nearly all naturally # occurring nucleic acid the linkage # is a phosphate group. For many # synthetic oligonucleotides # phosphorothioate linkages are # often seen. Linkage connectivity # is assumed to be 3’-5’. If the # linkage is either 3’-3’ or 5’-5’ # this should be specified fhir:identifier @<Identifier>?; # Each linkage will be registered as # a fragment and have an ID fhir:name @<string>?; # Each linkage will be registered as # a fragment and have at least one # name. A single name shall be # assigned to each linkage fhir:residueSite @<string>?; # Residues shall be captured as # described in 5.3.6.8.3 } # Subunits are listed in order of decreasing length; sequences of the same length will be ordered by molecular weight; subunits that have identical sequences will be repeated multiple times <SubstanceNucleicAcid.subunit> EXTENDS @<BackboneElement> CLOSED { fhir:subunit @<integer>?; # Index of linear sequences of # nucleic acids in order of # decreasing length. Sequences of # the same length will be ordered by # molecular weight. Subunits that # have identical sequences will be # repeated and have sequential # subscripts fhir:sequence @<string>?; # Actual nucleotide sequence # notation from 5' to 3' end using # standard single letter codes. In # addition to the base sequence, # sugar and type of phosphate or # non-phosphate linkage should also # be captured fhir:length @<integer>?; # The length of the sequence shall # be captured fhir:sequenceAttachment @<Attachment>?; # (TBC) fhir:fivePrime @<CodeableConcept>?; # The nucleotide present at the 5’ # terminal shall be specified based # on a controlled vocabulary. Since # the sequence is represented from # the 5' to the 3' end, the 5’ prime # nucleotide is the letter at the # first position in the sequence. A # separate representation would be # redundant fhir:threePrime @<CodeableConcept>?; # The nucleotide present at the 3’ # terminal shall be specified based # on a controlled vocabulary. Since # the sequence is represented from # the 5' to the 3' end, the 5’ prime # nucleotide is the letter at the # last position in the sequence. A # separate representation would be # redundant fhir:linkage @<OneOrMore_SubstanceNucleicAcid.subunit.linkage>?; # The linkages between sugar # residues will also be captured fhir:sugar @<OneOrMore_SubstanceNucleicAcid.subunit.sugar>?; # 5.3.6.8.1 Sugar ID (Mandatory) } # 5.3.6.8.1 Sugar ID (Mandatory) <SubstanceNucleicAcid.subunit.sugar> EXTENDS @<BackboneElement> CLOSED { fhir:identifier @<Identifier>?; # The Substance ID of the sugar or # sugar-like component that make up # the nucleotide fhir:name @<string>?; # The name of the sugar or # sugar-like component that make up # the nucleotide fhir:residueSite @<string>?; # The residues that contain a given # sugar will be captured. The order # of given residues will be captured # in the 5‘-3‘direction consistent # with the base sequences listed # above } #---------------------- Cardinality Types (OneOrMore) ------------------- <OneOrMore_SubstanceNucleicAcid.subunit> CLOSED { rdf:first @<SubstanceNucleicAcid.subunit> ; rdf:rest [rdf:nil] OR @<OneOrMore_SubstanceNucleicAcid.subunit> } <OneOrMore_SubstanceNucleicAcid.subunit.linkage> CLOSED { rdf:first @<SubstanceNucleicAcid.subunit.linkage> ; rdf:rest [rdf:nil] OR @<OneOrMore_SubstanceNucleicAcid.subunit.linkage> } <OneOrMore_SubstanceNucleicAcid.subunit.sugar> CLOSED { rdf:first @<SubstanceNucleicAcid.subunit.sugar> ; rdf:rest [rdf:nil] OR @<OneOrMore_SubstanceNucleicAcid.subunit.sugar> }
Usage note: every effort has been made to ensure that the ShEx files are correct and useful, but they are not a normative part of the specification.
FHIR ®© HL7.org 2011+. FHIR R6 hl7.fhir.core#6.0.0-ballot2 generated on Thu, Dec 12, 2024 19:30+0000.
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