Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build International flag

Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions

: Nucleotide DNA Symbols - TTL Representation

Page standards status: Draft Maturity Level: 0

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "nucleotide-dna"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem nucleotide-dna</b></p><a name=\"nucleotide-dna\"> </a><a name=\"hcnucleotide-dna\"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/nucleotide-dna</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style=\"white-space:nowrap\">G<a name=\"nucleotide-dna-G\"> </a></td><td>Guanine</td><td>G</td></tr><tr><td style=\"white-space:nowrap\">A<a name=\"nucleotide-dna-A\"> </a></td><td>Adenine</td><td>A</td></tr><tr><td style=\"white-space:nowrap\">T<a name=\"nucleotide-dna-T\"> </a></td><td>Thymine</td><td>T</td></tr><tr><td style=\"white-space:nowrap\">C<a name=\"nucleotide-dna-C\"> </a></td><td>Cytosine</td><td>C</td></tr><tr><td style=\"white-space:nowrap\">R<a name=\"nucleotide-dna-R\"> </a></td><td>Purine</td><td>G or A</td></tr><tr><td style=\"white-space:nowrap\">Y<a name=\"nucleotide-dna-Y\"> </a></td><td>Pyrimidine</td><td>T or C</td></tr><tr><td style=\"white-space:nowrap\">M<a name=\"nucleotide-dna-M\"> </a></td><td>Amino</td><td>A or C</td></tr><tr><td style=\"white-space:nowrap\">K<a name=\"nucleotide-dna-K\"> </a></td><td>Keto</td><td>G or T</td></tr><tr><td style=\"white-space:nowrap\">S<a name=\"nucleotide-dna-S\"> </a></td><td>Strong interaction (3 H bonds)</td><td>G or C</td></tr><tr><td style=\"white-space:nowrap\">W<a name=\"nucleotide-dna-W\"> </a></td><td>Weak interaction (2 H bonds)</td><td>A or T</td></tr><tr><td style=\"white-space:nowrap\">H<a name=\"nucleotide-dna-H\"> </a></td><td>not-G, H follows G in the alphabet</td><td>A or C or T</td></tr><tr><td style=\"white-space:nowrap\">B<a name=\"nucleotide-dna-B\"> </a></td><td>not-A, B follows A</td><td>G or T or C</td></tr><tr><td style=\"white-space:nowrap\">V<a name=\"nucleotide-dna-V\"> </a></td><td>not-T (not-U), V follows U</td><td>G or C or A</td></tr><tr><td style=\"white-space:nowrap\">D<a name=\"nucleotide-dna-D\"> </a></td><td>not-C, D follows C</td><td>G or A or T</td></tr><tr><td style=\"white-space:nowrap\">N<a name=\"nucleotide-dna-N\"> </a></td><td>Any nucleotide</td><td>G or A or T or C</td></tr></table></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "cg"     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm"^^xsd:anyURI ] ;
fhir:value [
a fhir:integer ;
fhir:v 0 ;
      ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ] ;
fhir:value [
a fhir:canonical ;
fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types>         ]       ] )     ]
  ] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status"^^xsd:anyURI ] ;
fhir:value [
a fhir:code ;
fhir:v "draft" ;
      ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom"^^xsd:anyURI ] ;
fhir:value [
a fhir:canonical ;
fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/molecular-definition-data-types/ImplementationGuide/hl7.fhir.uv.molecular-definition-data-types>         ]       ] )     ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/nucleotide-dna"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "1.0.0-ballot1"] ; # 
  fhir:name [ fhir:v "NucleotideDNA"] ; # 
  fhir:title [ fhir:v "Nucleotide DNA Symbols"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2025-09-26T21:26:20+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "cg@lists.HL7.org" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Single-letter symbols for DNA residues, including unambiguous, ambiguous, and N symbols."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "15"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "G" ] ;
fhir:display [ fhir:v "Guanine" ] ;
fhir:definition [ fhir:v "G" ]
  ] [
fhir:code [ fhir:v "A" ] ;
fhir:display [ fhir:v "Adenine" ] ;
fhir:definition [ fhir:v "A" ]
  ] [
fhir:code [ fhir:v "T" ] ;
fhir:display [ fhir:v "Thymine" ] ;
fhir:definition [ fhir:v "T" ]
  ] [
fhir:code [ fhir:v "C" ] ;
fhir:display [ fhir:v "Cytosine" ] ;
fhir:definition [ fhir:v "C" ]
  ] [
fhir:code [ fhir:v "R" ] ;
fhir:display [ fhir:v "Purine" ] ;
fhir:definition [ fhir:v "G or A" ]
  ] [
fhir:code [ fhir:v "Y" ] ;
fhir:display [ fhir:v "Pyrimidine" ] ;
fhir:definition [ fhir:v "T or C" ]
  ] [
fhir:code [ fhir:v "M" ] ;
fhir:display [ fhir:v "Amino" ] ;
fhir:definition [ fhir:v "A or C" ]
  ] [
fhir:code [ fhir:v "K" ] ;
fhir:display [ fhir:v "Keto" ] ;
fhir:definition [ fhir:v "G or T" ]
  ] [
fhir:code [ fhir:v "S" ] ;
fhir:display [ fhir:v "Strong interaction (3 H bonds)" ] ;
fhir:definition [ fhir:v "G or C" ]
  ] [
fhir:code [ fhir:v "W" ] ;
fhir:display [ fhir:v "Weak interaction (2 H bonds)" ] ;
fhir:definition [ fhir:v "A or T" ]
  ] [
fhir:code [ fhir:v "H" ] ;
fhir:display [ fhir:v "not-G, H follows G in the alphabet" ] ;
fhir:definition [ fhir:v "A or C or T" ]
  ] [
fhir:code [ fhir:v "B" ] ;
fhir:display [ fhir:v "not-A, B follows A" ] ;
fhir:definition [ fhir:v "G or T or C" ]
  ] [
fhir:code [ fhir:v "V" ] ;
fhir:display [ fhir:v "not-T (not-U), V follows U" ] ;
fhir:definition [ fhir:v "G or C or A" ]
  ] [
fhir:code [ fhir:v "D" ] ;
fhir:display [ fhir:v "not-C, D follows C" ] ;
fhir:definition [ fhir:v "G or A or T" ]
  ] [
fhir:code [ fhir:v "N" ] ;
fhir:display [ fhir:v "Any nucleotide" ] ;
fhir:definition [ fhir:v "G or A or T or C" ]
  ] ) . #