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Logical Model: GenomeSequenceDesignation - JSON Profile

Active as of 2022-03-10

JSON representation of the GenomeSequenceDesignation logical model.

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{
  "resourceType" : "StructureDefinition",
  "id" : "GenomeSequenceDesignation",
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><table border=\"0\" cellpadding=\"0\" cellspacing=\"0\" style=\"border: 0px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;\"><tr style=\"border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top\"><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/formats.html#table\" title=\"The logical name of the element\">Name</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/formats.html#table\" title=\"Information about the use of the element\">Flags</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/formats.html#table\" title=\"Minimum and Maximum # of times the the element can appear in the instance\">Card.</a></th><th style=\"width: 100px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/formats.html#table\" title=\"Reference to the type of the element\">Type</a></th><th style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/formats.html#table\" title=\"Additional information about the element\">Description &amp; Constraints</a><span style=\"float: right\"><a href=\"http://hl7.org/fhir/R4/formats.html#table\" title=\"Legend for this format\"><img src=\"http://hl7.org/fhir/R4/help16.png\" alt=\"doco\" style=\"background-color: inherit\"/></a></span></th></tr><tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_element.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Element\" class=\"hierarchy\"/> <a href=\"StructureDefinition-GenomeSequenceDesignation-definitions.html#GenomeSequenceDesignation\" title=\"Datatype to support FHIR Genomics.  This datatype supports representations like GRCH38.p13 Chromosome 1\">GenomeSequenceDesignation</a><a name=\"GenomeSequenceDesignation\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><span style=\"opacity: 0.5\">0</span><span style=\"opacity: 0.5\">..</span><span style=\"opacity: 0.5\">*</span></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#Element\">Element</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Genome Sequence Designation</td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-GenomeSequenceDesignation-definitions.html#GenomeSequenceDesignation.build\" title=\"The identifier of a genome build, which contains a sequence of interest.\">build</a><a name=\"GenomeSequenceDesignation.build\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#Identifier\">Identifier</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Genome build id</td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-GenomeSequenceDesignation-definitions.html#GenomeSequenceDesignation.organism\" title=\"The organism corresponding to the genome sequence, preferably expressed using an NCBI taxonomy code.\">organism</a><a name=\"GenomeSequenceDesignation.organism\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Organism</td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_primitive.png\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Primitive Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-GenomeSequenceDesignation-definitions.html#GenomeSequenceDesignation.description\" title=\"A description of the genome sequence.\">description</a><a name=\"GenomeSequenceDesignation.description\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#string\">string</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Description of the genome sequence</td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white\"><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: white; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-GenomeSequenceDesignation-definitions.html#GenomeSequenceDesignation.accession\" title=\"The accession number of the Genome Build\">accession</a><a name=\"GenomeSequenceDesignation.accession\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">0..1</td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: white; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Genome build accession number</td></tr>\r\n<tr style=\"border: 0px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7\"><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00.png)\" class=\"hierarchy\"><img src=\"tbl_spacer.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"tbl_vjoin_end.png\" alt=\".\" style=\"background-color: inherit\" class=\"hierarchy\"/><img src=\"icon_datatype.gif\" alt=\".\" style=\"background-color: #F7F7F7; background-color: inherit\" title=\"Data Type\" class=\"hierarchy\"/> <a href=\"StructureDefinition-GenomeSequenceDesignation-definitions.html#GenomeSequenceDesignation.chromosome\" title=\"The name or number (preferably coded) of the chromosome represented by the genome sequence.\">chromosome</a><a name=\"GenomeSequenceDesignation.chromosome\"> </a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"/><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">1..1</td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\"><a href=\"http://hl7.org/fhir/R4/datatypes.html#CodeableConcept\">CodeableConcept</a></td><td style=\"vertical-align: top; text-align : left; background-color: #F7F7F7; border: 0px #F0F0F0 solid; padding:0px 4px 0px 4px\" class=\"hierarchy\">Chromosome represented by the genome sequence</td></tr>\r\n<tr><td colspan=\"5\" class=\"hierarchy\"><br/><a href=\"http://hl7.org/fhir/R4/formats.html#table\" title=\"Legend for this format\"><img src=\"http://hl7.org/fhir/R4/help16.png\" alt=\"doco\" style=\"background-color: inherit\"/> Documentation for this format</a></td></tr></table></div>"
  },
  "url" : "http://hl7.org/fhir/uv/cg-model/StructureDefinition/GenomeSequenceDesignation",
  "version" : "0.1.0",
  "name" : "GenomeSequenceDesignation",
  "title" : "Genome Sequence Designation",
  "status" : "active",
  "date" : "2022-03-10T10:18:50-06:00",
  "publisher" : "Clinical Genomics",
  "contact" : [
    {
      "name" : "Clinical Genomics",
      "telecom" : [
        {
          "system" : "url",
          "value" : "http://example.org/example-publisher"
        }
      ]
    }
  ],
  "description" : "Datatype to support FHIR Genomics.  This datatype supports representations like GRCH38.p13 Chromosome 1",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "001",
          "display" : "World"
        }
      ]
    }
  ],
  "fhirVersion" : "4.0.1",
  "mapping" : [
    {
      "identity" : "rim",
      "uri" : "http://hl7.org/v3",
      "name" : "RIM Mapping"
    }
  ],
  "kind" : "logical",
  "abstract" : false,
  "type" : "http://hl7.org/fhir/uv/cg-model/StructureDefinition/GenomeSequenceDesignation",
  "baseDefinition" : "http://hl7.org/fhir/StructureDefinition/Element",
  "derivation" : "specialization",
  "snapshot" : {
    "element" : [
      {
        "id" : "GenomeSequenceDesignation",
        "path" : "GenomeSequenceDesignation",
        "short" : "Genome Sequence Designation",
        "definition" : "Datatype to support FHIR Genomics.  This datatype supports representations like GRCH38.p13 Chromosome 1",
        "min" : 0,
        "max" : "*",
        "base" : {
          "path" : "Element",
          "min" : 0,
          "max" : "*"
        },
        "condition" : [
          "ele-1"
        ],
        "constraint" : [
          {
            "key" : "ele-1",
            "severity" : "error",
            "human" : "All FHIR elements must have a @value or children",
            "expression" : "hasValue() or (children().count() > id.count())",
            "xpath" : "@value|f:*|h:div",
            "source" : "http://hl7.org/fhir/StructureDefinition/Element"
          }
        ],
        "isModifier" : false,
        "mapping" : [
          {
            "identity" : "rim",
            "map" : "n/a"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.id",
        "path" : "GenomeSequenceDesignation.id",
        "representation" : [
          "xmlAttr"
        ],
        "short" : "Unique id for inter-element referencing",
        "definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
        "min" : 0,
        "max" : "1",
        "base" : {
          "path" : "Element.id",
          "min" : 0,
          "max" : "1"
        },
        "type" : [
          {
            "extension" : [
              {
                "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
                "valueUrl" : "string"
              }
            ],
            "code" : "http://hl7.org/fhirpath/System.String"
          }
        ],
        "isModifier" : false,
        "isSummary" : false,
        "mapping" : [
          {
            "identity" : "rim",
            "map" : "n/a"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.extension",
        "path" : "GenomeSequenceDesignation.extension",
        "slicing" : {
          "discriminator" : [
            {
              "type" : "value",
              "path" : "url"
            }
          ],
          "description" : "Extensions are always sliced by (at least) url",
          "rules" : "open"
        },
        "short" : "Additional content defined by implementations",
        "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.",
        "comment" : "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.",
        "alias" : [
          "extensions",
          "user content"
        ],
        "min" : 0,
        "max" : "*",
        "base" : {
          "path" : "Element.extension",
          "min" : 0,
          "max" : "*"
        },
        "type" : [
          {
            "code" : "Extension"
          }
        ],
        "constraint" : [
          {
            "key" : "ele-1",
            "severity" : "error",
            "human" : "All FHIR elements must have a @value or children",
            "expression" : "hasValue() or (children().count() > id.count())",
            "xpath" : "@value|f:*|h:div",
            "source" : "http://hl7.org/fhir/StructureDefinition/Element"
          },
          {
            "key" : "ext-1",
            "severity" : "error",
            "human" : "Must have either extensions or value[x], not both",
            "expression" : "extension.exists() != value.exists()",
            "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
            "source" : "http://hl7.org/fhir/StructureDefinition/Extension"
          }
        ],
        "isModifier" : false,
        "isSummary" : false,
        "mapping" : [
          {
            "identity" : "rim",
            "map" : "n/a"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.build",
        "path" : "GenomeSequenceDesignation.build",
        "short" : "Genome build id",
        "definition" : "The identifier of a genome build, which contains a sequence of interest.",
        "min" : 1,
        "max" : "1",
        "base" : {
          "path" : "GenomeSequenceDesignation.build",
          "min" : 1,
          "max" : "1"
        },
        "type" : [
          {
            "code" : "Identifier"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.organism",
        "path" : "GenomeSequenceDesignation.organism",
        "short" : "Organism",
        "definition" : "The organism corresponding to the genome sequence, preferably expressed using an NCBI taxonomy code.",
        "min" : 0,
        "max" : "1",
        "base" : {
          "path" : "GenomeSequenceDesignation.organism",
          "min" : 0,
          "max" : "1"
        },
        "type" : [
          {
            "code" : "CodeableConcept"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.description",
        "path" : "GenomeSequenceDesignation.description",
        "short" : "Description of the genome sequence",
        "definition" : "A description of the genome sequence.",
        "min" : 0,
        "max" : "1",
        "base" : {
          "path" : "GenomeSequenceDesignation.description",
          "min" : 0,
          "max" : "1"
        },
        "type" : [
          {
            "code" : "string"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.accession",
        "path" : "GenomeSequenceDesignation.accession",
        "short" : "Genome build accession number",
        "definition" : "The accession number of the Genome Build",
        "min" : 0,
        "max" : "1",
        "base" : {
          "path" : "GenomeSequenceDesignation.accession",
          "min" : 0,
          "max" : "1"
        },
        "type" : [
          {
            "code" : "CodeableConcept"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.chromosome",
        "path" : "GenomeSequenceDesignation.chromosome",
        "short" : "Chromosome represented by the genome sequence",
        "definition" : "The name or number (preferably coded) of the chromosome represented by the genome sequence.",
        "min" : 1,
        "max" : "1",
        "base" : {
          "path" : "GenomeSequenceDesignation.chromosome",
          "min" : 1,
          "max" : "1"
        },
        "type" : [
          {
            "code" : "CodeableConcept"
          }
        ]
      }
    ]
  },
  "differential" : {
    "element" : [
      {
        "id" : "GenomeSequenceDesignation",
        "path" : "GenomeSequenceDesignation",
        "short" : "Genome Sequence Designation",
        "definition" : "Datatype to support FHIR Genomics.  This datatype supports representations like GRCH38.p13 Chromosome 1"
      },
      {
        "id" : "GenomeSequenceDesignation.build",
        "path" : "GenomeSequenceDesignation.build",
        "short" : "Genome build id",
        "definition" : "The identifier of a genome build, which contains a sequence of interest.",
        "min" : 1,
        "max" : "1",
        "type" : [
          {
            "code" : "Identifier"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.organism",
        "path" : "GenomeSequenceDesignation.organism",
        "short" : "Organism",
        "definition" : "The organism corresponding to the genome sequence, preferably expressed using an NCBI taxonomy code.",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "CodeableConcept"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.description",
        "path" : "GenomeSequenceDesignation.description",
        "short" : "Description of the genome sequence",
        "definition" : "A description of the genome sequence.",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "string"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.accession",
        "path" : "GenomeSequenceDesignation.accession",
        "short" : "Genome build accession number",
        "definition" : "The accession number of the Genome Build",
        "min" : 0,
        "max" : "1",
        "type" : [
          {
            "code" : "CodeableConcept"
          }
        ]
      },
      {
        "id" : "GenomeSequenceDesignation.chromosome",
        "path" : "GenomeSequenceDesignation.chromosome",
        "short" : "Chromosome represented by the genome sequence",
        "definition" : "The name or number (preferably coded) of the chromosome represented by the genome sequence.",
        "min" : 1,
        "max" : "1",
        "type" : [
          {
            "code" : "CodeableConcept"
          }
        ]
      }
    ]
  }
}