observation-geneticsAminoAcidChange.xml
  1 <?xml version="1.0" encoding="utf-8"?>
  2 <StructureDefinition xmlns="http://hl7.org/fhir">
  3   <id value="observation-geneticsAminoAcidChange" />
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  5     <valueCode value="oo" />
  6   </extension>
  7   <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
  8     <valueInteger value="1" />
  9   </extension>
 10   <url value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange" />
 11   <version value="4.0.1" />
 12   <name value="AminoAcidChange" />
 13   <status value="draft" />
 14   <date value="2016-03-14" />
 15   <publisher value="Health Level Seven International (Clinical Genomics)" />
 16   <contact>
 17     <telecom>
 18       <system value="url" />
 19       <value value="http://www.hl7.org/Special/committees/clingenomics" />
 20     </telecom>
 21   </contact>
 22   <description value="AminoAcidChange information." />
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 38     <expression value="Observation" />
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157       <sliceName value="Name" />
158       <short value="HGVS nomenclature for observed Amino Acid Change" />
159       <definition value="Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide ([SO:0001237](http://www.sequenceontology.org/browser/current_svn/term/SO:0001237)). LOINC Code: ([48005-3](http://loinc.org/48005-3))." />
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313           <valueString value="ClinVar-variant-database" />
314         </extension>
315         <strength value="preferred" />
316         <description value="NCBI central repository of potentially clinically relevant variants." />
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324     <element id="Extension.extension:Type">
325       <path value="Extension.extension" />
326       <sliceName value="Type" />
327       <short value="Amino Acid Change Type" />
328       <definition value="Codified type for associated Amino Acid Change.  LOINC Code: ([48006-1](http://loinc.org/48006-1))." />
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634       <type>
635         <code value="SampledData" />
636       </type>
637       <type>
638         <code value="Signature" />
639       </type>
640       <type>
641         <code value="Timing" />
642       </type>
643       <type>
644         <code value="ContactDetail" />
645       </type>
646       <type>
647         <code value="Contributor" />
648       </type>
649       <type>
650         <code value="DataRequirement" />
651       </type>
652       <type>
653         <code value="Expression" />
654       </type>
655       <type>
656         <code value="ParameterDefinition" />
657       </type>
658       <type>
659         <code value="RelatedArtifact" />
660       </type>
661       <type>
662         <code value="TriggerDefinition" />
663       </type>
664       <type>
665         <code value="UsageContext" />
666       </type>
667       <type>
668         <code value="Dosage" />
669       </type>
670       <type>
671         <code value="Meta" />
672       </type>
673       <constraint>
674         <key value="ele-1" />
675         <severity value="error" />
676         <human value="All FHIR elements must have a @value or children" />
677         <expression value="hasValue() or (children().count() > id.count())" />
678         <xpath value="@value|f:*|h:div" />
679         <source value="http://hl7.org/fhir/StructureDefinition/Element" />
680       </constraint>
681       <isModifier value="false" />
682       <isSummary value="false" />
683       <mapping>
684         <identity value="rim" />
685         <map value="N/A" />
686       </mapping>
687     </element>
688   </snapshot>
689   <differential>
690     <element id="Extension">
691       <path value="Extension" />
692       <short value="AminoAcidChange" />
693       <definition value="AminoAcidChange information." />
694       <min value="0" />
695       <max value="1" />
696       <mapping>
697         <identity value="v2" />
698         <map value="N/A" />
699       </mapping>
700       <mapping>
701         <identity value="rim" />
702         <map value="N/A" />
703       </mapping>
704     </element>
705     <element id="Extension.extension:Name">
706       <path value="Extension.extension" />
707       <sliceName value="Name" />
708       <short value="HGVS nomenclature for observed Amino Acid Change" />
709       <definition value="Human Genome Variation Society (HGVS) nomenclature for an amino acid change. Reference sequence ID used for HGVS naming must be annotated. An amino acid is a sequence feature that corresponds to a single amino acid residue in a polypeptide ([SO:0001237](http://www.sequenceontology.org/browser/current_svn/term/SO:0001237)). LOINC Code: ([48005-3](http://loinc.org/48005-3))." />
710       <min value="0" />
711       <max value="1" />
712       <type>
713         <code value="Extension" />
714       </type>
715       <mapping>
716         <identity value="v2" />
717         <map value="N/A" />
718       </mapping>
719       <mapping>
720         <identity value="rim" />
721         <map value="N/A" />
722       </mapping>
723     </element>
724     <element id="Extension.extension:Name.extension">
725       <path value="Extension.extension.extension" />
726       <max value="0" />
727     </element>
728     <element id="Extension.extension:Name.url">
729       <path value="Extension.extension.url" />
730       <type>
731         <code value="uri" />
732       </type>
733       <fixedUri value="Name" />
734     </element>
735     <element id="Extension.extension:Name.value[x]">
736       <path value="Extension.extension.value[x]" />
737       <min value="1" />
738       <type>
739         <code value="CodeableConcept" />
740       </type>
741       <binding>
742         <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName">
743           <valueString value="ClinVar-variant-database" />
744         </extension>
745         <strength value="preferred" />
746         <description value="NCBI central repository of potentially clinically relevant variants." />
747         <valueSet value="http://hl7.org/fhir/ValueSet/clinvar" />
748       </binding>
749     </element>
750     <element id="Extension.extension:Type">
751       <path value="Extension.extension" />
752       <sliceName value="Type" />
753       <short value="Amino Acid Change Type" />
754       <definition value="Codified type for associated Amino Acid Change.  LOINC Code: ([48006-1](http://loinc.org/48006-1))." />
755       <min value="0" />
756       <max value="1" />
757       <type>
758         <code value="Extension" />
759       </type>
760       <mapping>
761         <identity value="v2" />
762         <map value="N/A" />
763       </mapping>
764       <mapping>
765         <identity value="rim" />
766         <map value="N/A" />
767       </mapping>
768     </element>
769     <element id="Extension.extension:Type.extension">
770       <path value="Extension.extension.extension" />
771       <max value="0" />
772     </element>
773     <element id="Extension.extension:Type.url">
774       <path value="Extension.extension.url" />
775       <type>
776         <code value="uri" />
777       </type>
778       <fixedUri value="Type" />
779     </element>
780     <element id="Extension.extension:Type.value[x]">
781       <path value="Extension.extension.value[x]" />
782       <min value="1" />
783       <type>
784         <code value="CodeableConcept" />
785       </type>
786     </element>
787     <element id="Extension.url">
788       <path value="Extension.url" />
789       <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange" />
790     </element>
791     <element id="Extension.value[x]">
792       <path value="Extension.value[x]" />
793       <min value="0" />
794       <max value="0" />
795     </element>
796   </differential>
797 </StructureDefinition>