| Package | hl7.fhir.uv.extensions.r5 |
| Type | StructureDefinition |
| Id | observation-geneticsAllele |
| FHIR Version | R5 |
| Source | http://hl7.org/fhir/extensions/http://hl7.org/fhir/extensions/5.2.0/StructureDefinition-observation-geneticsAllele.html |
| URL | http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele |
| Version | 5.2.0 |
| Status | retired |
| Date | 2016-03-14 |
| Name | Allele |
| Title | Allele |
| Realm | uv |
| Authority | hl7 |
| Description | Allele information. |
| Type | Extension |
| Kind | complex-type |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: StructureDefinition observation-geneticsAllele
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  Extension | 0..1 | Extension | Allele | |
  Slices for extension | Content/Rules for all slices | |||
   extension:Name | 0..1 | Extension | Name of allele | |
   extension | 0..0 | |||
 url | 1..1 | uri | "Name" | |
  value[x] | 1..1 | CodeableConcept | Value of extension Binding Description (No ValueSet): (example): EMBL-EBI database of AlleleName. | |
| extension:State | 0..1 | Extension | The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous | |
| extension | 0..0 | |||
| url | 1..1 | uri | "State" | |
| value[x] | 1..1 | CodeableConcept | Value of extension | |
 extension:Frequency | 0..1 | Extension | Allele frequency | |
 extension | 0..0 | |||
| url | 1..1 | uri | "Frequency" | |
| value[x] | 1..1 | decimal | Value of extension | |
| url | 1..1 | uri | "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele" | |
 value[x] | 0..0 | |||
| Documentation for this format | ||||
FHIR{
"resourceType": "StructureDefinition",
"id": "observation-geneticsAllele",
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
"valueCode": "oo"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
"valueInteger": 1
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
"valueCode": "deprecated",
"_valueCode": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status-reason",
"valueMarkdown": "This extension has been replaced by the profiles and extensions defined in the [Genomics Reporting Guide](https://hl7.org/fhir/uv/genomics-reporting/)"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-type-characteristics",
"valueCode": "can-bind"
}
],
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele",
"version": "5.2.0",
"name": "Allele",
"title": "Allele",
"status": "retired",
"date": "2016-03-14",
"publisher": "HL7 International / Orders and Observations",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "http://www.hl7.org/Special/committees/orders"
}
]
}
],
"description": "Allele information.",
"jurisdiction": [
{
"coding": [
{
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"code": "001"
}
]
}
],
"fhirVersion": "5.0.0",
"mapping": [
{
"identity": "v2",
"uri": "http://hl7.org/v2",
"name": "HL7 v2 Mapping"
},
{
"identity": "rim",
"uri": "http://hl7.org/v3",
"name": "RIM Mapping"
}
],
"kind": "complex-type",
"abstract": false,
"context": [
{
"type": "element",
"expression": "Observation"
}
],
"type": "Extension",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
"derivation": "constraint",
"snapshot": {
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version",
"valueString": "5.0.0"
}
],
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "Allele",
"definition": "Allele information.",
"min": 0,
"max": "1",
"base": {
"path": "Extension",
"min": 0,
"max": "*"
},
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false
},
{
"id": "Extension.id",
"path": "Extension.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": "id"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"condition": [
"ele-1"
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension",
"path": "Extension.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 managable, 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())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:Name",
"path": "Extension.extension",
"sliceName": "Name",
"short": "Name of allele",
"definition": "An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). This element is the common name for the allele. LOINC Code: ([48008-7](http://loinc.org/48008-7)).",
"min": 0,
"max": "1",
"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())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "v2",
"map": "N/A"
},
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:Name.id",
"path": "Extension.extension.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": "id"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"condition": [
"ele-1"
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:Name.extension",
"path": "Extension.extension.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Extension",
"definition": "An Extension",
"min": 0,
"max": "0",
"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())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false
},
{
"id": "Extension.extension:Name.url",
"path": "Extension.extension.url",
"representation": [
"xmlAttr"
],
"short": "identifies the meaning of the extension",
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"comment": "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.",
"min": 1,
"max": "1",
"base": {
"path": "Extension.url",
"min": 1,
"max": "1"
},
"type": [
{
"code": "uri"
}
],
"fixedUri": "Name",
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:Name.value[x]",
"path": "Extension.extension.value[x]",
"short": "Value of extension",
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"min": 1,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"condition": [
"ext-1"
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": false,
"binding": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "EBI-AlleleName"
}
],
"strength": "example",
"description": "EMBL-EBI database of AlleleName."
},
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:State",
"path": "Extension.extension",
"sliceName": "State",
"short": "The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous",
"definition": "The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non-homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LOINC Code: ([53034-5](http://loinc.org/53034-5)).",
"min": 0,
"max": "1",
"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())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false
},
{
"id": "Extension.extension:State.id",
"path": "Extension.extension.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": "id"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"condition": [
"ele-1"
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:State.extension",
"path": "Extension.extension.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Extension",
"definition": "An Extension",
"min": 0,
"max": "0",
"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())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false
},
{
"id": "Extension.extension:State.url",
"path": "Extension.extension.url",
"representation": [
"xmlAttr"
],
"short": "identifies the meaning of the extension",
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"comment": "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.",
"min": 1,
"max": "1",
"base": {
"path": "Extension.url",
"min": 1,
"max": "1"
},
"type": [
{
"code": "uri"
}
],
"fixedUri": "State",
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:State.value[x]",
"path": "Extension.extension.value[x]",
"short": "Value of extension",
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"min": 1,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"condition": [
"ext-1"
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:Frequency",
"path": "Extension.extension",
"sliceName": "Frequency",
"short": "Allele frequency",
"definition": "A physical quality which inheres to the allele by virtue of the number instances of the allele within a population. LOINC Code: ([81258-6](http://loinc.org/81258-6)).",
"min": 0,
"max": "1",
"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())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false
},
{
"id": "Extension.extension:Frequency.id",
"path": "Extension.extension.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": "id"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"condition": [
"ele-1"
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "Extension.extension:Frequency.extension",
"path": "Extension.extension.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Extension",
"definition": "An Extension",
"min": 0,
"max": "0",
"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())",
"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()",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false
},
{
"id": "Extension.extension:Frequency.url",
"path": "Extension.extension.url",
"representation": [
"xmlAttr"
],
"short": "identifies the meaning of the extension",
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"comment": "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.",
"min": 1,
"max": "1",
"base": {
"path": "Extension.url",
"min": 1,
"max": "1"
},
"type": [
{
"code": "uri"
}
],
"fixedUri": "Frequency",
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:Frequency.value[x]",
"path": "Extension.extension.value[x]",
"short": "Value of extension",
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"min": 1,
"max": "1",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "decimal"
}
],
"condition": [
"ext-1"
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.url",
"path": "Extension.url",
"representation": [
"xmlAttr"
],
"short": "identifies the meaning of the extension",
"definition": "Source of the definition for the extension code - a logical name or a URL.",
"comment": "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.",
"min": 1,
"max": "1",
"base": {
"path": "Extension.url",
"min": 1,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "uri"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele",
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"short": "Value of extension",
"definition": "Value of extension - must be one of a constrained set of the data types (see [Extensibility](http://hl7.org/fhir/R5/extensibility.html) for a list).",
"min": 0,
"max": "0",
"base": {
"path": "Extension.value[x]",
"min": 0,
"max": "1"
},
"type": [
{
"code": "base64Binary"
},
{
"code": "boolean"
},
{
"code": "canonical"
},
{
"code": "code"
},
{
"code": "date"
},
{
"code": "dateTime"
},
{
"code": "decimal"
},
{
"code": "id"
},
{
"code": "instant"
},
{
"code": "integer"
},
{
"code": "integer64"
},
{
"code": "markdown"
},
{
"code": "oid"
},
{
"code": "positiveInt"
},
{
"code": "string"
},
{
"code": "time"
},
{
"code": "unsignedInt"
},
{
"code": "uri"
},
{
"code": "url"
},
{
"code": "uuid"
},
{
"code": "Address"
},
{
"code": "Age"
},
{
"code": "Annotation"
},
{
"code": "Attachment"
},
{
"code": "CodeableConcept"
},
{
"code": "CodeableReference"
},
{
"code": "Coding"
},
{
"code": "ContactPoint"
},
{
"code": "Count"
},
{
"code": "Distance"
},
{
"code": "Duration"
},
{
"code": "HumanName"
},
{
"code": "Identifier"
},
{
"code": "Money"
},
{
"code": "Period"
},
{
"code": "Quantity"
},
{
"code": "Range"
},
{
"code": "Ratio"
},
{
"code": "RatioRange"
},
{
"code": "Reference"
},
{
"code": "SampledData"
},
{
"code": "Signature"
},
{
"code": "Timing"
},
{
"code": "ContactDetail"
},
{
"code": "DataRequirement"
},
{
"code": "Expression"
},
{
"code": "ParameterDefinition"
},
{
"code": "RelatedArtifact"
},
{
"code": "TriggerDefinition"
},
{
"code": "UsageContext"
},
{
"code": "Availability"
},
{
"code": "ExtendedContactDetail"
},
{
"code": "Dosage"
},
{
"code": "Meta"
}
],
"condition": [
"ext-1"
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
}
]
},
"differential": {
"element": [
{
"id": "Extension",
"path": "Extension",
"short": "Allele",
"definition": "Allele information.",
"min": 0,
"max": "1"
},
{
"id": "Extension.extension:Name",
"path": "Extension.extension",
"sliceName": "Name",
"short": "Name of allele",
"definition": "An allele is one of a set of coexisting sequence variants of a gene ([SO:0001023](http://www.sequenceontology.org/browser/current_svn/term/SO:0001023)). This element is the common name for the allele. LOINC Code: ([48008-7](http://loinc.org/48008-7)).",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension"
}
],
"mapping": [
{
"identity": "v2",
"map": "N/A"
},
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "Extension.extension:Name.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:Name.url",
"path": "Extension.extension.url",
"type": [
{
"code": "uri"
}
],
"fixedUri": "Name"
},
{
"id": "Extension.extension:Name.value[x]",
"path": "Extension.extension.value[x]",
"min": 1,
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "EBI-AlleleName"
}
],
"strength": "example",
"description": "EMBL-EBI database of AlleleName."
}
},
{
"id": "Extension.extension:State",
"path": "Extension.extension",
"sliceName": "State",
"short": "The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous",
"definition": "The level of occurrence of a single DNA Sequence Variant within a set of chromosomes. Heterozygous indicates the DNA sequence variant is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variant is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Sequence Variant exists in the only single copy of a gene in a non-homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variant is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variant is present in all of the copies of mitochondrial DNA. LOINC Code: ([53034-5](http://loinc.org/53034-5)).",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension"
}
]
},
{
"id": "Extension.extension:State.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:State.url",
"path": "Extension.extension.url",
"type": [
{
"code": "uri"
}
],
"fixedUri": "State"
},
{
"id": "Extension.extension:State.value[x]",
"path": "Extension.extension.value[x]",
"min": 1,
"type": [
{
"code": "CodeableConcept"
}
]
},
{
"id": "Extension.extension:Frequency",
"path": "Extension.extension",
"sliceName": "Frequency",
"short": "Allele frequency",
"definition": "A physical quality which inheres to the allele by virtue of the number instances of the allele within a population. LOINC Code: ([81258-6](http://loinc.org/81258-6)).",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension"
}
]
},
{
"id": "Extension.extension:Frequency.extension",
"path": "Extension.extension.extension",
"max": "0"
},
{
"id": "Extension.extension:Frequency.url",
"path": "Extension.extension.url",
"type": [
{
"code": "uri"
}
],
"fixedUri": "Frequency"
},
{
"id": "Extension.extension:Frequency.value[x]",
"path": "Extension.extension.value[x]",
"min": 1,
"type": [
{
"code": "decimal"
}
]
},
{
"id": "Extension.url",
"path": "Extension.url",
"fixedUri": "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele"
},
{
"id": "Extension.value[x]",
"path": "Extension.value[x]",
"min": 0,
"max": "0"
}
]
}
}