This page is part of the FHIR Specification (v4.0.1: R4 - Mixed Normative and STU) in it's permanent home (it will always be available at this URL). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R5 R4
Biomedical Research and Regulation Work Group | Maturity Level: 0 | Trial Use | Security Category: Anonymous | Compartments: Not linked to any defined compartments |
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.
This resource is referenced by SubstanceSpecification
Structure
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
SubstanceNucleicAcid | ΣTU | DomainResource | 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 Elements defined in Ancestors: id, meta, implicitRules, language, text, contained, extension, modifierExtension | |
sequenceType | Σ | 0..1 | CodeableConcept | The type of the sequence shall be specified based on a controlled vocabulary |
numberOfSubunits | Σ | 0..1 | 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 |
areaOfHybridisation | Σ | 0..1 | 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” |
oligoNucleotideType | Σ | 0..1 | CodeableConcept | (TBC) |
subunit | Σ | 0..* | BackboneElement | 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 |
subunit | Σ | 0..1 | 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 |
sequence | Σ | 0..1 | 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 |
length | Σ | 0..1 | integer | The length of the sequence shall be captured |
sequenceAttachment | Σ | 0..1 | Attachment | (TBC) |
fivePrime | Σ | 0..1 | 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 |
threePrime | Σ | 0..1 | 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 |
linkage | Σ | 0..* | BackboneElement | The linkages between sugar residues will also be captured |
connectivity | Σ | 0..1 | 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 |
identifier | Σ | 0..1 | Identifier | Each linkage will be registered as a fragment and have an ID |
name | Σ | 0..1 | string | Each linkage will be registered as a fragment and have at least one name. A single name shall be assigned to each linkage |
residueSite | Σ | 0..1 | string | Residues shall be captured as described in 5.3.6.8.3 |
sugar | Σ | 0..* | BackboneElement | 5.3.6.8.1 Sugar ID (Mandatory) |
identifier | Σ | 0..1 | Identifier | The Substance ID of the sugar or sugar-like component that make up the nucleotide |
name | Σ | 0..1 | string | The name of the sugar or sugar-like component that make up the nucleotide |
residueSite | Σ | 0..1 | 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 |
Documentation for this format |
UML Diagram (Legend)
XML Template
<SubstanceNucleicAcid xmlns="http://hl7.org/fhir"> <!-- from Resource: id, meta, implicitRules, and language --> <!-- from DomainResource: text, contained, extension, and modifierExtension --> <sequenceType><!-- 0..1 CodeableConcept The type of the sequence shall be specified based on a controlled vocabulary --></sequenceType> <numberOfSubunits value="[integer]"/><!-- 0..1 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 --> <areaOfHybridisation value="[string]"/><!-- 0..1 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� --> <oligoNucleotideType><!-- 0..1 CodeableConcept (TBC) --></oligoNucleotideType> <subunit> <!-- 0..* 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 --> <subunit value="[integer]"/><!-- 0..1 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 --> <sequence value="[string]"/><!-- 0..1 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 --> <length value="[integer]"/><!-- 0..1 The length of the sequence shall be captured --> <sequenceAttachment><!-- 0..1 Attachment (TBC) --></sequenceAttachment> <fivePrime><!-- 0..1 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 --></fivePrime> <threePrime><!-- 0..1 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 --></threePrime> <linkage> <!-- 0..* The linkages between sugar residues will also be captured --> <connectivity value="[string]"/><!-- 0..1 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 --> <identifier><!-- 0..1 Identifier Each linkage will be registered as a fragment and have an ID --></identifier> <name value="[string]"/><!-- 0..1 Each linkage will be registered as a fragment and have at least one name. A single name shall be assigned to each linkage --> <residueSite value="[string]"/><!-- 0..1 Residues shall be captured as described in 5.3.6.8.3 --> </linkage> <sugar> <!-- 0..* 5.3.6.8.1 Sugar ID (Mandatory) --> <identifier><!-- 0..1 Identifier The Substance ID of the sugar or sugar-like component that make up the nucleotide --></identifier> <name value="[string]"/><!-- 0..1 The name of the sugar or sugar-like component that make up the nucleotide --> <residueSite value="[string]"/><!-- 0..1 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 --> </sugar> </subunit> </SubstanceNucleicAcid>
JSON Template
{ "resourceType" : "SubstanceNucleicAcid", // from Resource: id, meta, implicitRules, and language // from DomainResource: text, contained, extension, and modifierExtension "sequenceType" : { CodeableConcept }, // The type of the sequence shall be specified based on a controlled vocabulary "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 "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� "oligoNucleotideType" : { CodeableConcept }, // (TBC) "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 "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 "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 "length" : <integer>, // The length of the sequence shall be captured "sequenceAttachment" : { Attachment }, // (TBC) "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 "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 "linkage" : [{ // The linkages between sugar residues will also be captured "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 "identifier" : { Identifier }, // Each linkage will be registered as a fragment and have an ID "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 "residueSite" : "<string>" // Residues shall be captured as described in 5.3.6.8.3 }], "sugar" : [{ // 5.3.6.8.1 Sugar ID (Mandatory) "identifier" : { Identifier }, // The Substance ID of the sugar or sugar-like component that make up the nucleotide "name" : "<string>", // The name of the sugar or sugar-like component that make up the nucleotide "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 }] }] }
Turtle Template
@prefix fhir: <http://hl7.org/fhir/> . [ a fhir:SubstanceNucleicAcid; fhir:nodeRole fhir:treeRoot; # if this is the parser root # from Resource: .id, .meta, .implicitRules, and .language # from DomainResource: .text, .contained, .extension, and .modifierExtension fhir:SubstanceNucleicAcid.sequenceType [ CodeableConcept ]; # 0..1 The type of the sequence shall be specified based on a controlled vocabulary fhir:SubstanceNucleicAcid.numberOfSubunits [ integer ]; # 0..1 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:SubstanceNucleicAcid.areaOfHybridisation [ string ]; # 0..1 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:SubstanceNucleicAcid.oligoNucleotideType [ CodeableConcept ]; # 0..1 (TBC) fhir:SubstanceNucleicAcid.subunit [ # 0..* 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 fhir:SubstanceNucleicAcid.subunit.subunit [ integer ]; # 0..1 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:SubstanceNucleicAcid.subunit.sequence [ string ]; # 0..1 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:SubstanceNucleicAcid.subunit.length [ integer ]; # 0..1 The length of the sequence shall be captured fhir:SubstanceNucleicAcid.subunit.sequenceAttachment [ Attachment ]; # 0..1 (TBC) fhir:SubstanceNucleicAcid.subunit.fivePrime [ CodeableConcept ]; # 0..1 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:SubstanceNucleicAcid.subunit.threePrime [ CodeableConcept ]; # 0..1 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:SubstanceNucleicAcid.subunit.linkage [ # 0..* The linkages between sugar residues will also be captured fhir:SubstanceNucleicAcid.subunit.linkage.connectivity [ string ]; # 0..1 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:SubstanceNucleicAcid.subunit.linkage.identifier [ Identifier ]; # 0..1 Each linkage will be registered as a fragment and have an ID fhir:SubstanceNucleicAcid.subunit.linkage.name [ string ]; # 0..1 Each linkage will be registered as a fragment and have at least one name. A single name shall be assigned to each linkage fhir:SubstanceNucleicAcid.subunit.linkage.residueSite [ string ]; # 0..1 Residues shall be captured as described in 5.3.6.8.3 ], ...; fhir:SubstanceNucleicAcid.subunit.sugar [ # 0..* 5.3.6.8.1 Sugar ID (Mandatory) fhir:SubstanceNucleicAcid.subunit.sugar.identifier [ Identifier ]; # 0..1 The Substance ID of the sugar or sugar-like component that make up the nucleotide fhir:SubstanceNucleicAcid.subunit.sugar.name [ string ]; # 0..1 The name of the sugar or sugar-like component that make up the nucleotide fhir:SubstanceNucleicAcid.subunit.sugar.residueSite [ string ]; # 0..1 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 ], ...; ], ...; ]
Structure
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
SubstanceNucleicAcid | ΣTU | DomainResource | 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 Elements defined in Ancestors: id, meta, implicitRules, language, text, contained, extension, modifierExtension | |
sequenceType | Σ | 0..1 | CodeableConcept | The type of the sequence shall be specified based on a controlled vocabulary |
numberOfSubunits | Σ | 0..1 | 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 |
areaOfHybridisation | Σ | 0..1 | 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” |
oligoNucleotideType | Σ | 0..1 | CodeableConcept | (TBC) |
subunit | Σ | 0..* | BackboneElement | 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 |
subunit | Σ | 0..1 | 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 |
sequence | Σ | 0..1 | 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 |
length | Σ | 0..1 | integer | The length of the sequence shall be captured |
sequenceAttachment | Σ | 0..1 | Attachment | (TBC) |
fivePrime | Σ | 0..1 | 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 |
threePrime | Σ | 0..1 | 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 |
linkage | Σ | 0..* | BackboneElement | The linkages between sugar residues will also be captured |
connectivity | Σ | 0..1 | 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 |
identifier | Σ | 0..1 | Identifier | Each linkage will be registered as a fragment and have an ID |
name | Σ | 0..1 | string | Each linkage will be registered as a fragment and have at least one name. A single name shall be assigned to each linkage |
residueSite | Σ | 0..1 | string | Residues shall be captured as described in 5.3.6.8.3 |
sugar | Σ | 0..* | BackboneElement | 5.3.6.8.1 Sugar ID (Mandatory) |
identifier | Σ | 0..1 | Identifier | The Substance ID of the sugar or sugar-like component that make up the nucleotide |
name | Σ | 0..1 | string | The name of the sugar or sugar-like component that make up the nucleotide |
residueSite | Σ | 0..1 | 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 |
Documentation for this format |
XML Template
<SubstanceNucleicAcid xmlns="http://hl7.org/fhir"> <!-- from Resource: id, meta, implicitRules, and language --> <!-- from DomainResource: text, contained, extension, and modifierExtension --> <sequenceType><!-- 0..1 CodeableConcept The type of the sequence shall be specified based on a controlled vocabulary --></sequenceType> <numberOfSubunits value="[integer]"/><!-- 0..1 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 --> <areaOfHybridisation value="[string]"/><!-- 0..1 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� --> <oligoNucleotideType><!-- 0..1 CodeableConcept (TBC) --></oligoNucleotideType> <subunit> <!-- 0..* 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 --> <subunit value="[integer]"/><!-- 0..1 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 --> <sequence value="[string]"/><!-- 0..1 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 --> <length value="[integer]"/><!-- 0..1 The length of the sequence shall be captured --> <sequenceAttachment><!-- 0..1 Attachment (TBC) --></sequenceAttachment> <fivePrime><!-- 0..1 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 --></fivePrime> <threePrime><!-- 0..1 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 --></threePrime> <linkage> <!-- 0..* The linkages between sugar residues will also be captured --> <connectivity value="[string]"/><!-- 0..1 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 --> <identifier><!-- 0..1 Identifier Each linkage will be registered as a fragment and have an ID --></identifier> <name value="[string]"/><!-- 0..1 Each linkage will be registered as a fragment and have at least one name. A single name shall be assigned to each linkage --> <residueSite value="[string]"/><!-- 0..1 Residues shall be captured as described in 5.3.6.8.3 --> </linkage> <sugar> <!-- 0..* 5.3.6.8.1 Sugar ID (Mandatory) --> <identifier><!-- 0..1 Identifier The Substance ID of the sugar or sugar-like component that make up the nucleotide --></identifier> <name value="[string]"/><!-- 0..1 The name of the sugar or sugar-like component that make up the nucleotide --> <residueSite value="[string]"/><!-- 0..1 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 --> </sugar> </subunit> </SubstanceNucleicAcid>
JSON Template
{ "resourceType" : "SubstanceNucleicAcid", // from Resource: id, meta, implicitRules, and language // from DomainResource: text, contained, extension, and modifierExtension "sequenceType" : { CodeableConcept }, // The type of the sequence shall be specified based on a controlled vocabulary "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 "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� "oligoNucleotideType" : { CodeableConcept }, // (TBC) "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 "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 "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 "length" : <integer>, // The length of the sequence shall be captured "sequenceAttachment" : { Attachment }, // (TBC) "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 "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 "linkage" : [{ // The linkages between sugar residues will also be captured "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 "identifier" : { Identifier }, // Each linkage will be registered as a fragment and have an ID "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 "residueSite" : "<string>" // Residues shall be captured as described in 5.3.6.8.3 }], "sugar" : [{ // 5.3.6.8.1 Sugar ID (Mandatory) "identifier" : { Identifier }, // The Substance ID of the sugar or sugar-like component that make up the nucleotide "name" : "<string>", // The name of the sugar or sugar-like component that make up the nucleotide "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 }] }] }
Turtle Template
@prefix fhir: <http://hl7.org/fhir/> . [ a fhir:SubstanceNucleicAcid; fhir:nodeRole fhir:treeRoot; # if this is the parser root # from Resource: .id, .meta, .implicitRules, and .language # from DomainResource: .text, .contained, .extension, and .modifierExtension fhir:SubstanceNucleicAcid.sequenceType [ CodeableConcept ]; # 0..1 The type of the sequence shall be specified based on a controlled vocabulary fhir:SubstanceNucleicAcid.numberOfSubunits [ integer ]; # 0..1 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:SubstanceNucleicAcid.areaOfHybridisation [ string ]; # 0..1 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:SubstanceNucleicAcid.oligoNucleotideType [ CodeableConcept ]; # 0..1 (TBC) fhir:SubstanceNucleicAcid.subunit [ # 0..* 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 fhir:SubstanceNucleicAcid.subunit.subunit [ integer ]; # 0..1 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:SubstanceNucleicAcid.subunit.sequence [ string ]; # 0..1 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:SubstanceNucleicAcid.subunit.length [ integer ]; # 0..1 The length of the sequence shall be captured fhir:SubstanceNucleicAcid.subunit.sequenceAttachment [ Attachment ]; # 0..1 (TBC) fhir:SubstanceNucleicAcid.subunit.fivePrime [ CodeableConcept ]; # 0..1 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:SubstanceNucleicAcid.subunit.threePrime [ CodeableConcept ]; # 0..1 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:SubstanceNucleicAcid.subunit.linkage [ # 0..* The linkages between sugar residues will also be captured fhir:SubstanceNucleicAcid.subunit.linkage.connectivity [ string ]; # 0..1 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:SubstanceNucleicAcid.subunit.linkage.identifier [ Identifier ]; # 0..1 Each linkage will be registered as a fragment and have an ID fhir:SubstanceNucleicAcid.subunit.linkage.name [ string ]; # 0..1 Each linkage will be registered as a fragment and have at least one name. A single name shall be assigned to each linkage fhir:SubstanceNucleicAcid.subunit.linkage.residueSite [ string ]; # 0..1 Residues shall be captured as described in 5.3.6.8.3 ], ...; fhir:SubstanceNucleicAcid.subunit.sugar [ # 0..* 5.3.6.8.1 Sugar ID (Mandatory) fhir:SubstanceNucleicAcid.subunit.sugar.identifier [ Identifier ]; # 0..1 The Substance ID of the sugar or sugar-like component that make up the nucleotide fhir:SubstanceNucleicAcid.subunit.sugar.name [ string ]; # 0..1 The name of the sugar or sugar-like component that make up the nucleotide fhir:SubstanceNucleicAcid.subunit.sugar.residueSite [ string ]; # 0..1 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 ], ...; ], ...; ]
See the Profiles & Extensions and the alternate definitions: Master Definition XML + JSON, XML Schema/Schematron + JSON Schema, ShEx (for Turtle) + see the extensions & the dependency analysis