observation-geneticsVariant.xml 1 <?xml version="1.0" encoding="utf-8"?> 2 <StructureDefinition xmlns="http://hl7.org/fhir"> 3 <id value="observation-geneticsVariant" /> 4 <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"> 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-geneticsVariant" /> 11 <version value="4.0.1" /> 12 <name value="Variant" /> 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="Variant information." /> 23 <fhirVersion value="4.0.1" /> 24 <mapping> 25 <identity value="v2" /> 26 <uri value="http://hl7.org/v2" /> 27 <name value="HL7 v2 Mapping" /> 28 </mapping> 29 <mapping> 30 <identity value="rim" /> 31 <uri value="http://hl7.org/v3" /> 32 <name value="RIM Mapping" /> 33 </mapping> 34 <kind value="complex-type" /> 35 <abstract value="false" /> 36 <context> 37 <type value="element" /> 38 <expression value="Observation" /> 39 </context> 40 <type value="Extension" /> 41 <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Extension" /> 42 <derivation value="constraint" /> 43 <snapshot> 44 <element id="Extension"> 45 <path value="Extension" /> 46 <short value="Variant" /> 47 <definition value="Variant information." /> 48 <min value="0" /> 49 <max value="1" /> 50 <base> 51 <path value="Extension" /> 52 <min value="0" /> 53 <max value="*" /> 54 </base> 55 <condition value="ele-1" /> 56 <constraint> 57 <key value="ele-1" /> 58 <severity value="error" /> 59 <human value="All FHIR elements must have a @value or children" /> 60 <expression value="hasValue() or (children().count() > id.count())" /> 61 <xpath value="@value|f:*|h:div" /> 62 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 63 </constraint> 64 <constraint> 65 <key value="ext-1" /> 66 <severity value="error" /> 67 <human value="Must have either extensions or value[x], not both" /> 68 <expression value="extension.exists() != value.exists()" /> 69 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), 'value')])" /> 70 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 71 </constraint> 72 <isModifier value="false" /> 73 </element> 74 <element id="Extension.id"> 75 <path value="Extension.id" /> 76 <representation value="xmlAttr" /> 77 <short value="Unique id for inter-element referencing" /> 78 <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." /> 79 <min value="0" /> 80 <max value="1" /> 81 <base> 82 <path value="Element.id" /> 83 <min value="0" /> 84 <max value="1" /> 85 </base> 86 <type> 87 <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> 88 <valueUrl value="string" /> 89 </extension> 90 <code value="http://hl7.org/fhirpath/System.String" /> 91 </type> 92 <isModifier value="false" /> 93 <isSummary value="false" /> 94 <mapping> 95 <identity value="rim" /> 96 <map value="n/a" /> 97 </mapping> 98 </element> 99 <element id="Extension.extension"> 100 <path value="Extension.extension" /> 101 <slicing> 102 <discriminator> 103 <type value="value" /> 104 <path value="url" /> 105 </discriminator> 106 <description value="Extensions are always sliced by (at least) url" /> 107 <rules value="open" /> 108 </slicing> 109 <short value="Additional content defined by implementations" /> 110 <definition value="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." /> 111 <comment value="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." /> 112 <alias value="extensions" /> 113 <alias value="user content" /> 114 <min value="0" /> 115 <max value="*" /> 116 <base> 117 <path value="Element.extension" /> 118 <min value="0" /> 119 <max value="*" /> 120 </base> 121 <type> 122 <code value="Extension" /> 123 </type> 124 <constraint> 125 <key value="ele-1" /> 126 <severity value="error" /> 127 <human value="All FHIR elements must have a @value or children" /> 128 <expression value="hasValue() or (children().count() > id.count())" /> 129 <xpath value="@value|f:*|h:div" /> 130 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 131 </constraint> 132 <constraint> 133 <key value="ext-1" /> 134 <severity value="error" /> 135 <human value="Must have either extensions or value[x], not both" /> 136 <expression value="extension.exists() != value.exists()" /> 137 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])" /> 138 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 139 </constraint> 140 <isModifier value="false" /> 141 <isSummary value="false" /> 142 <mapping> 143 <identity value="rim" /> 144 <map value="n/a" /> 145 </mapping> 146 </element> 147 <element id="Extension.extension:Name"> 148 <path value="Extension.extension" /> 149 <sliceName value="Name" /> 150 <short value="HGVS nomenclature for observed DNA sequence variant" /> 151 <definition value="Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA Sequence Variation(s) identified in testing. The use of the nomenclature is also used to describe non-variations (aka. wild types). LOINC Code: ([48004-6](http://loinc.org/48004-6))." /> 152 <min value="0" /> 153 <max value="1" /> 154 <base> 155 <path value="Element.extension" /> 156 <min value="0" /> 157 <max value="*" /> 158 </base> 159 <type> 160 <code value="Extension" /> 161 </type> 162 <constraint> 163 <key value="ele-1" /> 164 <severity value="error" /> 165 <human value="All FHIR elements must have a @value or children" /> 166 <expression value="hasValue() or (children().count() > id.count())" /> 167 <xpath value="@value|f:*|h:div" /> 168 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 169 </constraint> 170 <constraint> 171 <key value="ext-1" /> 172 <severity value="error" /> 173 <human value="Must have either extensions or value[x], not both" /> 174 <expression value="extension.exists() != value.exists()" /> 175 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])" /> 176 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 177 </constraint> 178 <isModifier value="false" /> 179 <isSummary value="false" /> 180 </element> 181 <element id="Extension.extension:Name.id"> 182 <path value="Extension.extension.id" /> 183 <representation value="xmlAttr" /> 184 <short value="Unique id for inter-element referencing" /> 185 <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." /> 186 <min value="0" /> 187 <max value="1" /> 188 <base> 189 <path value="Element.id" /> 190 <min value="0" /> 191 <max value="1" /> 192 </base> 193 <type> 194 <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> 195 <valueUrl value="string" /> 196 </extension> 197 <code value="http://hl7.org/fhirpath/System.String" /> 198 </type> 199 <isModifier value="false" /> 200 <isSummary value="false" /> 201 <mapping> 202 <identity value="rim" /> 203 <map value="n/a" /> 204 </mapping> 205 </element> 206 <element id="Extension.extension:Name.extension"> 207 <path value="Extension.extension.extension" /> 208 <slicing> 209 <discriminator> 210 <type value="value" /> 211 <path value="url" /> 212 </discriminator> 213 <description value="Extensions are always sliced by (at least) url" /> 214 <rules value="open" /> 215 </slicing> 216 <short value="Extension" /> 217 <definition value="An Extension" /> 218 <min value="0" /> 219 <max value="0" /> 220 <base> 221 <path value="Element.extension" /> 222 <min value="0" /> 223 <max value="*" /> 224 </base> 225 <type> 226 <code value="Extension" /> 227 </type> 228 <constraint> 229 <key value="ele-1" /> 230 <severity value="error" /> 231 <human value="All FHIR elements must have a @value or children" /> 232 <expression value="hasValue() or (children().count() > id.count())" /> 233 <xpath value="@value|f:*|h:div" /> 234 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 235 </constraint> 236 <constraint> 237 <key value="ext-1" /> 238 <severity value="error" /> 239 <human value="Must have either extensions or value[x], not both" /> 240 <expression value="extension.exists() != value.exists()" /> 241 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])" /> 242 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 243 </constraint> 244 <isModifier value="false" /> 245 <isSummary value="false" /> 246 </element> 247 <element id="Extension.extension:Name.url"> 248 <path value="Extension.extension.url" /> 249 <representation value="xmlAttr" /> 250 <short value="identifies the meaning of the extension" /> 251 <definition value="Source of the definition for the extension code - a logical name or a URL." /> 252 <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension." /> 253 <min value="1" /> 254 <max value="1" /> 255 <base> 256 <path value="Extension.url" /> 257 <min value="1" /> 258 <max value="1" /> 259 </base> 260 <type> 261 <code value="uri" /> 262 </type> 263 <fixedUri value="Name" /> 264 <isModifier value="false" /> 265 <isSummary value="false" /> 266 <mapping> 267 <identity value="rim" /> 268 <map value="N/A" /> 269 </mapping> 270 </element> 271 <element id="Extension.extension:Name.value[x]"> 272 <path value="Extension.extension.value[x]" /> 273 <short value="Value of extension" /> 274 <definition value="Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/extensibility.html) for a list)." /> 275 <min value="1" /> 276 <max value="1" /> 277 <base> 278 <path value="Extension.value[x]" /> 279 <min value="0" /> 280 <max value="1" /> 281 </base> 282 <type> 283 <code value="CodeableConcept" /> 284 </type> 285 <constraint> 286 <key value="ele-1" /> 287 <severity value="error" /> 288 <human value="All FHIR elements must have a @value or children" /> 289 <expression value="hasValue() or (children().count() > id.count())" /> 290 <xpath value="@value|f:*|h:div" /> 291 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 292 </constraint> 293 <isModifier value="false" /> 294 <isSummary value="false" /> 295 <binding> 296 <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> 297 <valueString value="ClinVar-variant-database" /> 298 </extension> 299 <strength value="preferred" /> 300 <description value="NCBI central repository of potentially clinically relevant variants." /> 301 <valueSet value="http://hl7.org/fhir/ValueSet/clinvar" /> 302 </binding> 303 <mapping> 304 <identity value="rim" /> 305 <map value="N/A" /> 306 </mapping> 307 </element> 308 <element id="Extension.extension:Id"> 309 <path value="Extension.extension" /> 310 <sliceName value="Id" /> 311 <short value="DNA sequence variant ID" /> 312 <definition value="Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8))." /> 313 <min value="0" /> 314 <max value="1" /> 315 <base> 316 <path value="Element.extension" /> 317 <min value="0" /> 318 <max value="*" /> 319 </base> 320 <type> 321 <code value="Extension" /> 322 </type> 323 <constraint> 324 <key value="ele-1" /> 325 <severity value="error" /> 326 <human value="All FHIR elements must have a @value or children" /> 327 <expression value="hasValue() or (children().count() > id.count())" /> 328 <xpath value="@value|f:*|h:div" /> 329 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 330 </constraint> 331 <constraint> 332 <key value="ext-1" /> 333 <severity value="error" /> 334 <human value="Must have either extensions or value[x], not both" /> 335 <expression value="extension.exists() != value.exists()" /> 336 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])" /> 337 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 338 </constraint> 339 <isModifier value="false" /> 340 <isSummary value="false" /> 341 </element> 342 <element id="Extension.extension:Id.id"> 343 <path value="Extension.extension.id" /> 344 <representation value="xmlAttr" /> 345 <short value="Unique id for inter-element referencing" /> 346 <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." /> 347 <min value="0" /> 348 <max value="1" /> 349 <base> 350 <path value="Element.id" /> 351 <min value="0" /> 352 <max value="1" /> 353 </base> 354 <type> 355 <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> 356 <valueUrl value="string" /> 357 </extension> 358 <code value="http://hl7.org/fhirpath/System.String" /> 359 </type> 360 <isModifier value="false" /> 361 <isSummary value="false" /> 362 <mapping> 363 <identity value="rim" /> 364 <map value="n/a" /> 365 </mapping> 366 </element> 367 <element id="Extension.extension:Id.extension"> 368 <path value="Extension.extension.extension" /> 369 <slicing> 370 <discriminator> 371 <type value="value" /> 372 <path value="url" /> 373 </discriminator> 374 <description value="Extensions are always sliced by (at least) url" /> 375 <rules value="open" /> 376 </slicing> 377 <short value="Extension" /> 378 <definition value="An Extension" /> 379 <min value="0" /> 380 <max value="0" /> 381 <base> 382 <path value="Element.extension" /> 383 <min value="0" /> 384 <max value="*" /> 385 </base> 386 <type> 387 <code value="Extension" /> 388 </type> 389 <constraint> 390 <key value="ele-1" /> 391 <severity value="error" /> 392 <human value="All FHIR elements must have a @value or children" /> 393 <expression value="hasValue() or (children().count() > id.count())" /> 394 <xpath value="@value|f:*|h:div" /> 395 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 396 </constraint> 397 <constraint> 398 <key value="ext-1" /> 399 <severity value="error" /> 400 <human value="Must have either extensions or value[x], not both" /> 401 <expression value="extension.exists() != value.exists()" /> 402 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])" /> 403 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 404 </constraint> 405 <isModifier value="false" /> 406 <isSummary value="false" /> 407 </element> 408 <element id="Extension.extension:Id.url"> 409 <path value="Extension.extension.url" /> 410 <representation value="xmlAttr" /> 411 <short value="identifies the meaning of the extension" /> 412 <definition value="Source of the definition for the extension code - a logical name or a URL." /> 413 <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension." /> 414 <min value="1" /> 415 <max value="1" /> 416 <base> 417 <path value="Extension.url" /> 418 <min value="1" /> 419 <max value="1" /> 420 </base> 421 <type> 422 <code value="uri" /> 423 </type> 424 <fixedUri value="Id" /> 425 <isModifier value="false" /> 426 <isSummary value="false" /> 427 <mapping> 428 <identity value="rim" /> 429 <map value="N/A" /> 430 </mapping> 431 </element> 432 <element id="Extension.extension:Id.value[x]"> 433 <path value="Extension.extension.value[x]" /> 434 <short value="Value of extension" /> 435 <definition value="Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/extensibility.html) for a list)." /> 436 <min value="1" /> 437 <max value="1" /> 438 <base> 439 <path value="Extension.value[x]" /> 440 <min value="0" /> 441 <max value="1" /> 442 </base> 443 <type> 444 <code value="CodeableConcept" /> 445 </type> 446 <constraint> 447 <key value="ele-1" /> 448 <severity value="error" /> 449 <human value="All FHIR elements must have a @value or children" /> 450 <expression value="hasValue() or (children().count() > id.count())" /> 451 <xpath value="@value|f:*|h:div" /> 452 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 453 </constraint> 454 <isModifier value="false" /> 455 <isSummary value="false" /> 456 <mapping> 457 <identity value="rim" /> 458 <map value="N/A" /> 459 </mapping> 460 </element> 461 <element id="Extension.extension:Type"> 462 <path value="Extension.extension" /> 463 <sliceName value="Type" /> 464 <short value="DNA sequence variant type" /> 465 <definition value="Codified type for associated DNA sequence variant. DNA sequence variants use the HGVS notation, which implies the DNA sequence variant type. LOINC Code: ([48019-4](http://loinc.org/48019-4))." /> 466 <min value="0" /> 467 <max value="1" /> 468 <base> 469 <path value="Element.extension" /> 470 <min value="0" /> 471 <max value="*" /> 472 </base> 473 <type> 474 <code value="Extension" /> 475 </type> 476 <constraint> 477 <key value="ele-1" /> 478 <severity value="error" /> 479 <human value="All FHIR elements must have a @value or children" /> 480 <expression value="hasValue() or (children().count() > id.count())" /> 481 <xpath value="@value|f:*|h:div" /> 482 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 483 </constraint> 484 <constraint> 485 <key value="ext-1" /> 486 <severity value="error" /> 487 <human value="Must have either extensions or value[x], not both" /> 488 <expression value="extension.exists() != value.exists()" /> 489 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])" /> 490 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 491 </constraint> 492 <isModifier value="false" /> 493 <isSummary value="false" /> 494 <mapping> 495 <identity value="v2" /> 496 <map value="N/A" /> 497 </mapping> 498 <mapping> 499 <identity value="rim" /> 500 <map value="N/A" /> 501 </mapping> 502 </element> 503 <element id="Extension.extension:Type.id"> 504 <path value="Extension.extension.id" /> 505 <representation value="xmlAttr" /> 506 <short value="Unique id for inter-element referencing" /> 507 <definition value="Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces." /> 508 <min value="0" /> 509 <max value="1" /> 510 <base> 511 <path value="Element.id" /> 512 <min value="0" /> 513 <max value="1" /> 514 </base> 515 <type> 516 <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> 517 <valueUrl value="string" /> 518 </extension> 519 <code value="http://hl7.org/fhirpath/System.String" /> 520 </type> 521 <isModifier value="false" /> 522 <isSummary value="false" /> 523 <mapping> 524 <identity value="rim" /> 525 <map value="n/a" /> 526 </mapping> 527 </element> 528 <element id="Extension.extension:Type.extension"> 529 <path value="Extension.extension.extension" /> 530 <slicing> 531 <discriminator> 532 <type value="value" /> 533 <path value="url" /> 534 </discriminator> 535 <description value="Extensions are always sliced by (at least) url" /> 536 <rules value="open" /> 537 </slicing> 538 <short value="Extension" /> 539 <definition value="An Extension" /> 540 <min value="0" /> 541 <max value="0" /> 542 <base> 543 <path value="Element.extension" /> 544 <min value="0" /> 545 <max value="*" /> 546 </base> 547 <type> 548 <code value="Extension" /> 549 </type> 550 <constraint> 551 <key value="ele-1" /> 552 <severity value="error" /> 553 <human value="All FHIR elements must have a @value or children" /> 554 <expression value="hasValue() or (children().count() > id.count())" /> 555 <xpath value="@value|f:*|h:div" /> 556 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 557 </constraint> 558 <constraint> 559 <key value="ext-1" /> 560 <severity value="error" /> 561 <human value="Must have either extensions or value[x], not both" /> 562 <expression value="extension.exists() != value.exists()" /> 563 <xpath value="exists(f:extension)!=exists(f:*[starts-with(local-name(.), "value")])" /> 564 <source value="http://hl7.org/fhir/StructureDefinition/Extension" /> 565 </constraint> 566 <isModifier value="false" /> 567 <isSummary value="false" /> 568 </element> 569 <element id="Extension.extension:Type.url"> 570 <path value="Extension.extension.url" /> 571 <representation value="xmlAttr" /> 572 <short value="identifies the meaning of the extension" /> 573 <definition value="Source of the definition for the extension code - a logical name or a URL." /> 574 <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension." /> 575 <min value="1" /> 576 <max value="1" /> 577 <base> 578 <path value="Extension.url" /> 579 <min value="1" /> 580 <max value="1" /> 581 </base> 582 <type> 583 <code value="uri" /> 584 </type> 585 <fixedUri value="Type" /> 586 <isModifier value="false" /> 587 <isSummary value="false" /> 588 <mapping> 589 <identity value="rim" /> 590 <map value="N/A" /> 591 </mapping> 592 </element> 593 <element id="Extension.extension:Type.value[x]"> 594 <path value="Extension.extension.value[x]" /> 595 <short value="Value of extension" /> 596 <definition value="Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/extensibility.html) for a list)." /> 597 <min value="1" /> 598 <max value="1" /> 599 <base> 600 <path value="Extension.value[x]" /> 601 <min value="0" /> 602 <max value="1" /> 603 </base> 604 <type> 605 <code value="CodeableConcept" /> 606 </type> 607 <constraint> 608 <key value="ele-1" /> 609 <severity value="error" /> 610 <human value="All FHIR elements must have a @value or children" /> 611 <expression value="hasValue() or (children().count() > id.count())" /> 612 <xpath value="@value|f:*|h:div" /> 613 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 614 </constraint> 615 <isModifier value="false" /> 616 <isSummary value="false" /> 617 <mapping> 618 <identity value="rim" /> 619 <map value="N/A" /> 620 </mapping> 621 </element> 622 <element id="Extension.url"> 623 <path value="Extension.url" /> 624 <representation value="xmlAttr" /> 625 <short value="identifies the meaning of the extension" /> 626 <definition value="Source of the definition for the extension code - a logical name or a URL." /> 627 <comment value="The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension." /> 628 <min value="1" /> 629 <max value="1" /> 630 <base> 631 <path value="Extension.url" /> 632 <min value="1" /> 633 <max value="1" /> 634 </base> 635 <type> 636 <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type"> 637 <valueUrl value="uri" /> 638 </extension> 639 <code value="http://hl7.org/fhirpath/System.String" /> 640 </type> 641 <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant" /> 642 <isModifier value="false" /> 643 <isSummary value="false" /> 644 <mapping> 645 <identity value="rim" /> 646 <map value="N/A" /> 647 </mapping> 648 </element> 649 <element id="Extension.value[x]"> 650 <path value="Extension.value[x]" /> 651 <short value="Value of extension" /> 652 <definition value="Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/extensibility.html) for a list)." /> 653 <min value="0" /> 654 <max value="0" /> 655 <base> 656 <path value="Extension.value[x]" /> 657 <min value="0" /> 658 <max value="1" /> 659 </base> 660 <type> 661 <code value="base64Binary" /> 662 </type> 663 <type> 664 <code value="boolean" /> 665 </type> 666 <type> 667 <code value="canonical" /> 668 </type> 669 <type> 670 <code value="code" /> 671 </type> 672 <type> 673 <code value="date" /> 674 </type> 675 <type> 676 <code value="dateTime" /> 677 </type> 678 <type> 679 <code value="decimal" /> 680 </type> 681 <type> 682 <code value="id" /> 683 </type> 684 <type> 685 <code value="instant" /> 686 </type> 687 <type> 688 <code value="integer" /> 689 </type> 690 <type> 691 <code value="markdown" /> 692 </type> 693 <type> 694 <code value="oid" /> 695 </type> 696 <type> 697 <code value="positiveInt" /> 698 </type> 699 <type> 700 <code value="string" /> 701 </type> 702 <type> 703 <code value="time" /> 704 </type> 705 <type> 706 <code value="unsignedInt" /> 707 </type> 708 <type> 709 <code value="uri" /> 710 </type> 711 <type> 712 <code value="url" /> 713 </type> 714 <type> 715 <code value="uuid" /> 716 </type> 717 <type> 718 <code value="Address" /> 719 </type> 720 <type> 721 <code value="Age" /> 722 </type> 723 <type> 724 <code value="Annotation" /> 725 </type> 726 <type> 727 <code value="Attachment" /> 728 </type> 729 <type> 730 <code value="CodeableConcept" /> 731 </type> 732 <type> 733 <code value="Coding" /> 734 </type> 735 <type> 736 <code value="ContactPoint" /> 737 </type> 738 <type> 739 <code value="Count" /> 740 </type> 741 <type> 742 <code value="Distance" /> 743 </type> 744 <type> 745 <code value="Duration" /> 746 </type> 747 <type> 748 <code value="HumanName" /> 749 </type> 750 <type> 751 <code value="Identifier" /> 752 </type> 753 <type> 754 <code value="Money" /> 755 </type> 756 <type> 757 <code value="Period" /> 758 </type> 759 <type> 760 <code value="Quantity" /> 761 </type> 762 <type> 763 <code value="Range" /> 764 </type> 765 <type> 766 <code value="Ratio" /> 767 </type> 768 <type> 769 <code value="Reference" /> 770 </type> 771 <type> 772 <code value="SampledData" /> 773 </type> 774 <type> 775 <code value="Signature" /> 776 </type> 777 <type> 778 <code value="Timing" /> 779 </type> 780 <type> 781 <code value="ContactDetail" /> 782 </type> 783 <type> 784 <code value="Contributor" /> 785 </type> 786 <type> 787 <code value="DataRequirement" /> 788 </type> 789 <type> 790 <code value="Expression" /> 791 </type> 792 <type> 793 <code value="ParameterDefinition" /> 794 </type> 795 <type> 796 <code value="RelatedArtifact" /> 797 </type> 798 <type> 799 <code value="TriggerDefinition" /> 800 </type> 801 <type> 802 <code value="UsageContext" /> 803 </type> 804 <type> 805 <code value="Dosage" /> 806 </type> 807 <type> 808 <code value="Meta" /> 809 </type> 810 <constraint> 811 <key value="ele-1" /> 812 <severity value="error" /> 813 <human value="All FHIR elements must have a @value or children" /> 814 <expression value="hasValue() or (children().count() > id.count())" /> 815 <xpath value="@value|f:*|h:div" /> 816 <source value="http://hl7.org/fhir/StructureDefinition/Element" /> 817 </constraint> 818 <isModifier value="false" /> 819 <isSummary value="false" /> 820 <mapping> 821 <identity value="rim" /> 822 <map value="N/A" /> 823 </mapping> 824 </element> 825 </snapshot> 826 <differential> 827 <element id="Extension"> 828 <path value="Extension" /> 829 <short value="Variant" /> 830 <definition value="Variant information." /> 831 <min value="0" /> 832 <max value="1" /> 833 </element> 834 <element id="Extension.extension:Name"> 835 <path value="Extension.extension" /> 836 <sliceName value="Name" /> 837 <short value="HGVS nomenclature for observed DNA sequence variant" /> 838 <definition value="Human Genome Variation Society (HGVS) nomenclature for a single or set of DNA Sequence Variation(s) identified in testing. The use of the nomenclature is also used to describe non-variations (aka. wild types). LOINC Code: ([48004-6](http://loinc.org/48004-6))." /> 839 <min value="0" /> 840 <max value="1" /> 841 <type> 842 <code value="Extension" /> 843 </type> 844 </element> 845 <element id="Extension.extension:Name.extension"> 846 <path value="Extension.extension.extension" /> 847 <max value="0" /> 848 </element> 849 <element id="Extension.extension:Name.url"> 850 <path value="Extension.extension.url" /> 851 <type> 852 <code value="uri" /> 853 </type> 854 <fixedUri value="Name" /> 855 </element> 856 <element id="Extension.extension:Name.value[x]"> 857 <path value="Extension.extension.value[x]" /> 858 <min value="1" /> 859 <type> 860 <code value="CodeableConcept" /> 861 </type> 862 <binding> 863 <extension url="http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName"> 864 <valueString value="ClinVar-variant-database" /> 865 </extension> 866 <strength value="preferred" /> 867 <description value="NCBI central repository of potentially clinically relevant variants." /> 868 <valueSet value="http://hl7.org/fhir/ValueSet/clinvar" /> 869 </binding> 870 </element> 871 <element id="Extension.extension:Id"> 872 <path value="Extension.extension" /> 873 <sliceName value="Id" /> 874 <short value="DNA sequence variant ID" /> 875 <definition value="Identifier for DNA sequence variant. If a germline variant, ClinVar or dbSNP identifier should be used. If a somatic variant, COSMIC identifier should be used, unless in ClinVar then either maybe used. Need to provide the code system used (ClinVar, dbSNP, COSMIC) LOINC Code: ([48003-8](http://loinc.org/48003-8))." /> 876 <min value="0" /> 877 <max value="1" /> 878 <type> 879 <code value="Extension" /> 880 </type> 881 </element> 882 <element id="Extension.extension:Id.extension"> 883 <path value="Extension.extension.extension" /> 884 <max value="0" /> 885 </element> 886 <element id="Extension.extension:Id.url"> 887 <path value="Extension.extension.url" /> 888 <type> 889 <code value="uri" /> 890 </type> 891 <fixedUri value="Id" /> 892 </element> 893 <element id="Extension.extension:Id.value[x]"> 894 <path value="Extension.extension.value[x]" /> 895 <min value="1" /> 896 <type> 897 <code value="CodeableConcept" /> 898 </type> 899 </element> 900 <element id="Extension.extension:Type"> 901 <path value="Extension.extension" /> 902 <sliceName value="Type" /> 903 <short value="DNA sequence variant type" /> 904 <definition value="Codified type for associated DNA sequence variant. DNA sequence variants use the HGVS notation, which implies the DNA sequence variant type. LOINC Code: ([48019-4](http://loinc.org/48019-4))." /> 905 <min value="0" /> 906 <max value="1" /> 907 <type> 908 <code value="Extension" /> 909 </type> 910 <mapping> 911 <identity value="v2" /> 912 <map value="N/A" /> 913 </mapping> 914 <mapping> 915 <identity value="rim" /> 916 <map value="N/A" /> 917 </mapping> 918 </element> 919 <element id="Extension.extension:Type.extension"> 920 <path value="Extension.extension.extension" /> 921 <max value="0" /> 922 </element> 923 <element id="Extension.extension:Type.url"> 924 <path value="Extension.extension.url" /> 925 <type> 926 <code value="uri" /> 927 </type> 928 <fixedUri value="Type" /> 929 </element> 930 <element id="Extension.extension:Type.value[x]"> 931 <path value="Extension.extension.value[x]" /> 932 <min value="1" /> 933 <type> 934 <code value="CodeableConcept" /> 935 </type> 936 </element> 937 <element id="Extension.url"> 938 <path value="Extension.url" /> 939 <fixedUri value="http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant" /> 940 </element> 941 <element id="Extension.value[x]"> 942 <path value="Extension.value[x]" /> 943 <min value="0" /> 944 <max value="0" /> 945 </element> 946 </differential> 947 </StructureDefinition>