Fujitsu Healthy Living Implementation Guide
1.1.28 - release

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Resource Profile: Fujitsu Observation Genomic Variant Profile

Official URL: http://ig.fujitsu.com/healthy-living/StructureDefinition/fujitsu-observation-genomic-variant Version: 1.1.28
Active as of 2025-07-09 Computable Name: FujitsuObservationGenomicVariant

Copyright/Legal: Copyright 2022 FUJITSU LIMITED

This profile defines the patient’s genomic variant.
このプロファイルは、患者のゲノムバリアントを定義します。

Usage:

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

This structure is derived from Variant

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..* Variant Fujitsu Observation Genomic Variant Profile (ゲノムバリアントプロファイル)
... id 0..1 id Logical id of this artifact (自動採番される論理ID)
... meta 0..1 Meta Metadata about the resource (リソースのメタデータ)
... implicitRules 0..0
... language 0..0
... text 0..1 Narrative Text summary of the resource, for human interpretation (リソースの概要)
... contained 0..* Resource Contained, inline Resources (リソース内リソース)
... extension 0..* Extension Additional content defined by implementations (要素の拡張)
... extension:secondary-finding 0..0
... extension:body-structure 0..0
... modifierExtension 0..0
... identifier 0..* Identifier Business Identifier for observation (識別子)
... basedOn 0..0
... partOf 0..0
... status 1..1 code registered | preliminary | final | amended + (状態)
... category 1..* CodeableConcept Classification of type of observation (カテゴリ)
... category:labCategory 1..1 CodeableConcept Classification of type of observation (検査カテゴリ)
.... id 0..0
.... extension 0..0
.... coding 1..* Coding Code defined by a terminology system (カテゴリの種類を表すコード)
..... id 0..0
..... extension 0..0
..... system 1..1 uri Identity of the terminology system (カテゴリの種類を定義するコード体系)
..... version 0..0
..... code 1..1 code Symbol in syntax defined by the system (カテゴリの種類を表すコード値)
..... display 1..1 string Representation defined by the system (カテゴリの種類の表示名)
..... userSelected 0..0
... code 1..1 CodeableConcept 69548-6 (検査名)
.... id 0..0
.... extension 0..0
.... coding 0..* Coding Code defined by a terminology system (検査の種類を表すコード)
..... id 0..0
..... extension 0..0
..... system 1..1 uri Identity of the terminology system (検査の種類を定義するコード体系)
..... version 0..0
..... code 1..1 code Symbol in syntax defined by the system (検査の種類を表すコード値)
..... display 1..1 string Representation defined by the system (検査の種類の表示名)
..... userSelected 0..0
... subject 0..1 Reference(Fujitsu Patient Profile) Who and/or what the observation is about (患者)
.... id 0..0
.... extension 0..0
.... reference 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... type 0..0
.... identifier 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
.... display 0..0
... focus 0..0
... encounter 0..0
... effective[x] 0..1 dateTime Clinically relevant time/time-period for observation (検査日)
... issued 0..0
... performer 0..0
... value[x] 0..1 CodeableConcept Actual result (結果)
... value[x]:valueCodeableConcept 0..1 CodeableConcept Indeterminate | No call | Present | Absent. (結果)
... dataAbsentReason 0..1 CodeableConcept Why the result is missing (欠損理由)
... interpretation 0..0
... note 0..0
... bodySite 0..0
... method 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ... (検査方法)
... specimen 0..1 Reference(Fujitsu Specimen Profile) Specimen used for this observation (検体)
.... id 0..0
.... extension 0..0
.... reference 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... type 0..0
.... identifier 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
.... display 0..0
... device 0..0
... referenceRange 0..0
... hasMember 0..0
... derivedFrom 0..0
... component 0..* BackboneElement Component results (結果)
... component:conclusion-string 0..0
... component:gene-studied 0..* BackboneElement Gene Studied (分析した遺伝子)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48018-6 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (HGNC遺伝子シンボルを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (HGNC遺伝子シンボルを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (HGNC遺伝子シンボルを表すコード値)
Fixed Value: 48018-6
...... display 1..1 string Representation defined by the system (HGNC遺伝子シンボルの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. (HGNC 遺伝子シンボルは表示テキストとして使用され、HGNC 遺伝子 ID はコードとして使用されます。 この遺伝子に対してまだ HGNC コードが発行されていない場合は、NCBI 遺伝子 ID を使用するものとします 。)
.... interpretation 0..0
.... referenceRange 0..0
... component:cytogenetic-location 0..* BackboneElement Cytogenetic (Chromosome) Location (細胞遺伝学的位置)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48001-2 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (染色体の位置を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (染色体の位置を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (染色体の位置を表すコード値)
Fixed Value: 48001-2
...... display 1..1 string Representation defined by the system (染色体の位置の表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Example: 1q21.1 (細胞遺伝学的位置の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:reference-sequence-assembly 0..0
... component:coding-hgvs 0..0
... component:genomic-hgvs 0..1 BackboneElement Genomic (gDNA) Change - gHGVS (gHGVS)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81290-9 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (ゲノムgDNAの変化-gHGVSを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (ゲノムgDNAの変化-gHGVSを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (ゲノムgDNAの変化-gHGVSを表すコード値)
Fixed Value: 81290-9
...... display 1..1 string Representation defined by the system (ゲノムgDNAの変化-gHGVSの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup (有効な HGVS 形式の「g.」から始まる 文字列)
.... interpretation 0..0
.... referenceRange 0..0
... component:cytogenomic-nomenclature 0..1 BackboneElement Cytogenomic Nomenclature (ISCN) (ISCN)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81291-7 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (細胞ゲノム命名法-ISCNを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (細胞ゲノム命名法-ISCNを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (細胞ゲノム命名法-ISCNを表すコード値)
Fixed Value: 81291-7
...... display 1..1 string Representation defined by the system (細胞ゲノム命名法-ISCNの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Actual component result (ISCNの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:genomic-ref-seq 0..0
... component:transcript-ref-seq 0..0
... component:exact-start-end 0..0
... component:inner-start-end 0..0
... component:outer-start-end 0..0
... component:coordinate-system 0..0
... component:ref-allele 0..0
... component:alt-allele 0..0
... component:coding-change-type 0..1 BackboneElement Coding DNA Change Type (コーディング DNA 変更タイプ)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48019-4 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (コーディングDNA変化タイプを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (コーディングDNA変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (コーディングDNA変化タイプを表すコード値)
Fixed Value: 48019-4
...... display 1..1 string Representation defined by the system (コーディングDNA変化タイプの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) (コーディング DNA 変更タイプの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:genomic-source-class 0..1 BackboneElement Genomic Source Class (ゲノムソースクラス)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48002-0 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (ゲノムソースクラスを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (ゲノムソースクラスを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (ゲノムソースクラスを表すコード値)
Fixed Value: 48002-0
...... display 1..1 string Representation defined by the system (ゲノムソースクラスの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo (ゲノムソースクラスの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:sample-allelic-frequency 0..1 BackboneElement Sample Allelic Frequency (サンプルの対立遺伝子頻度)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81258-6 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (サンプル対立遺伝子頻度を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (サンプル対立遺伝子頻度を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (サンプル対立遺伝子頻度を表すコード値)
Fixed Value: 81258-6
...... display 1..1 string Representation defined by the system (サンプル対立遺伝子頻度の表示名)
...... userSelected 0..0
.... value[x] 0..1 Quantity Relative frequency in the sample (サンプルの対立遺伝子頻度)
.... interpretation 0..0
.... referenceRange 0..0
... component:allelic-read-depth 0..0
... component:allelic-state 0..1 BackboneElement Allelic State (対立遺伝子の状態)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 53034-5 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (対立遺伝子状態を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (対立遺伝子状態を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (対立遺伝子状態を表すコード値)
Fixed Value: 53034-5
...... display 1..1 string Representation defined by the system (対立遺伝子状態の表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous (対立遺伝子の状態の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:variant-inheritance 0..0
... component:variation-code 0..* BackboneElement Variation Code (バリエーションコード)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81252-9 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (バリエーションコードを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (バリエーションコードを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (バリエーションコードを表すコード値)
Fixed Value: 81252-9
...... display 1..1 string Representation defined by the system (バリエーションコードの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept ClinVar ID or similar (ClinVar ID または類似のもの)
.... interpretation 0..0
.... referenceRange 0..0
... component:chromosome-identifier 0..0
... component:protein-hgvs 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS (pHGVS)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48005-3 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (タンパク質・アミノ酸の変化-pHGVSを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (タンパク質・アミノ酸の変化-pHGVSを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (タンパク質・アミノ酸の変化-pHGVSを表すコード値)
Fixed Value: 48005-3
...... display 1..1 string Representation defined by the system (タンパク質・アミノ酸の変化-pHGVSの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) (有効な HGVS 形式の「p.」から始まる 文字列)
.... interpretation 0..0
.... referenceRange 0..0
... component:amino-acid-change-type 0..1 BackboneElement Amino Acid Change Type (アミノ酸変化タイプ)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48006-1 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (アミノ酸変化タイプを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (アミノ酸変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (アミノ酸変化タイプを表すコード値)
Fixed Value: 48006-1
...... display 1..1 string Representation defined by the system (アミノ酸変化タイプの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent (アミノ酸変化タイプの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:molecular-consequence 0..1 BackboneElement Molecular Consequence (分子の結果)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept molecular-consequence (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (分子的帰結を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (分子的帰結を定義するコード体系)
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (分子的帰結を表すコード値)
Fixed Value: molecular-consequence
...... display 1..1 string Representation defined by the system (分子的帰結の表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) (分子の結果の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:copy-number 0..1 BackboneElement Genomic Structural Variant Copy Number (コピー番号)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 82155-3 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (ゲノム構造バリアントコピー数を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (ゲノム構造バリアントコピー数を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (ゲノム構造バリアントコピー数を表すコード値)
Fixed Value: 82155-3
...... display 1..1 string Representation defined by the system (ゲノム構造バリアントコピー数の表示名)
...... userSelected 0..0
.... value[x] 0..1 Quantity Actual component result (の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:variant-confidence-status 0..0

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* Variant Fujitsu Observation Genomic Variant Profile (ゲノムバリアントプロファイル)
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... id Σ 0..1 id Logical id of this artifact (自動採番される論理ID)
... meta Σ 0..1 Meta Metadata about the resource (リソースのメタデータ)
... text 0..1 Narrative Text summary of the resource, for human interpretation (リソースの概要)
... Slices for extension 0..* Extension Additional content defined by implementations (要素の拡張)
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation (識別子)
... status ?!Σ 1..1 code registered | preliminary | final | amended + (状態)
Binding: ObservationStatus (required): Codes providing the status of an observation.

... Slices for category 1..* CodeableConcept Classification of type of observation (カテゴリ)
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1 CodeableConcept Classification of type of observation (検査カテゴリ)
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... extension 0..0
..... coding Σ 1..* Coding Code defined by a terminology system (カテゴリの種類を表すコード)

Required Pattern: At least the following
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
...... extension 0..0
...... system Σ 1..1 uri Identity of the terminology system (カテゴリの種類を定義するコード体系)
...... code Σ 1..1 code Symbol in syntax defined by the system (カテゴリの種類を表すコード値)
...... display Σ 1..1 string Representation defined by the system (カテゴリの種類の表示名)
... code Σ 1..1 CodeableConcept 69548-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 69548-6
.... extension 0..0
.... coding Σ 0..* Coding Code defined by a terminology system (検査の種類を表すコード)
..... extension 0..0
..... system Σ 1..1 uri Identity of the terminology system (検査の種類を定義するコード体系)
..... code Σ 1..1 code Symbol in syntax defined by the system (検査の種類を表すコード値)
..... display Σ 1..1 string Representation defined by the system (検査の種類の表示名)
... subject Σ 0..1 Reference(Fujitsu Patient Profile) Who and/or what the observation is about (患者)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... effective[x] Σ 0..1 dateTime Clinically relevant time/time-period for observation (検査日)
... Slices for value[x] ΣC 0..1 CodeableConcept Actual result (結果)
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC 0..1 CodeableConcept Indeterminate | No call | Present | Absent. (結果)
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing (欠損理由)
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... method 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ... (検査方法)
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1 Reference(Fujitsu Specimen Profile) Specimen used for this observation (検体)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... Slices for component Σ 0..* BackboneElement Component results (結果)
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

.... component:gene-studied Σ 0..* BackboneElement Gene Studied (分析した遺伝子)
..... code Σ 1..1 CodeableConcept 48018-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48018-6
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (HGNC遺伝子シンボルを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (HGNC遺伝子シンボルを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (HGNC遺伝子シンボルを表すコード値)
Fixed Value: 48018-6
....... display Σ 1..1 string Representation defined by the system (HGNC遺伝子シンボルの表示名)
..... value[x] Σ 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. (HGNC 遺伝子シンボルは表示テキストとして使用され、HGNC 遺伝子 ID はコードとして使用されます。 この遺伝子に対してまだ HGNC コードが発行されていない場合は、NCBI 遺伝子 ID を使用するものとします 。)
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
.... component:cytogenetic-location Σ 0..* BackboneElement Cytogenetic (Chromosome) Location (細胞遺伝学的位置)
..... code Σ 1..1 CodeableConcept 48001-2 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48001-2
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (染色体の位置を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (染色体の位置を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (染色体の位置を表すコード値)
Fixed Value: 48001-2
....... display Σ 1..1 string Representation defined by the system (染色体の位置の表示名)
..... value[x] Σ 1..1 CodeableConcept Example: 1q21.1 (細胞遺伝学的位置の値)
.... component:genomic-hgvs Σ 0..1 BackboneElement Genomic (gDNA) Change - gHGVS (gHGVS)
..... code Σ 1..1 CodeableConcept 81290-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81290-9
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムgDNAの変化-gHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムgDNAの変化-gHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムgDNAの変化-gHGVSを表すコード値)
Fixed Value: 81290-9
....... display Σ 1..1 string Representation defined by the system (ゲノムgDNAの変化-gHGVSの表示名)
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup (有効な HGVS 形式の「g.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
.... component:cytogenomic-nomenclature Σ 0..1 BackboneElement Cytogenomic Nomenclature (ISCN) (ISCN)
..... code Σ 1..1 CodeableConcept 81291-7 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81291-7
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (細胞ゲノム命名法-ISCNを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (細胞ゲノム命名法-ISCNを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (細胞ゲノム命名法-ISCNを表すコード値)
Fixed Value: 81291-7
....... display Σ 1..1 string Representation defined by the system (細胞ゲノム命名法-ISCNの表示名)
..... value[x] Σ 1..1 CodeableConcept Actual component result (ISCNの値)
Binding: (unbound) (example): Binding not yet defined

.... component:coding-change-type Σ 0..1 BackboneElement Coding DNA Change Type (コーディング DNA 変更タイプ)
..... code Σ 1..1 CodeableConcept 48019-4 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48019-4
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (コーディングDNA変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (コーディングDNA変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (コーディングDNA変化タイプを表すコード値)
Fixed Value: 48019-4
....... display Σ 1..1 string Representation defined by the system (コーディングDNA変化タイプの表示名)
..... value[x] Σ 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) (コーディング DNA 変更タイプの値)
Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072

.... component:genomic-source-class Σ 0..1 BackboneElement Genomic Source Class (ゲノムソースクラス)
..... code Σ 1..1 CodeableConcept 48002-0 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48002-0
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムソースクラスを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムソースクラスを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムソースクラスを表すコード値)
Fixed Value: 48002-0
....... display Σ 1..1 string Representation defined by the system (ゲノムソースクラスの表示名)
..... value[x] Σ 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo (ゲノムソースクラスの値)
Binding: LOINC Answer List LL378-1 (extensible)
.... component:sample-allelic-frequency Σ 0..1 BackboneElement Sample Allelic Frequency (サンプルの対立遺伝子頻度)
..... code Σ 1..1 CodeableConcept 81258-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81258-6
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (サンプル対立遺伝子頻度を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (サンプル対立遺伝子頻度を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (サンプル対立遺伝子頻度を表すコード値)
Fixed Value: 81258-6
....... display Σ 1..1 string Representation defined by the system (サンプル対立遺伝子頻度の表示名)
..... value[x] Σ 0..1 Quantity Relative frequency in the sample (サンプルの対立遺伝子頻度)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

.... component:allelic-state Σ 0..1 BackboneElement Allelic State (対立遺伝子の状態)
..... code Σ 1..1 CodeableConcept 53034-5 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53034-5
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (対立遺伝子状態を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (対立遺伝子状態を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (対立遺伝子状態を表すコード値)
Fixed Value: 53034-5
....... display Σ 1..1 string Representation defined by the system (対立遺伝子状態の表示名)
..... value[x] Σ 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous (対立遺伝子の状態の値)
Binding: LOINC Answer List LL381-5 (extensible)
.... component:variation-code Σ 0..* BackboneElement Variation Code (バリエーションコード)
..... code Σ 1..1 CodeableConcept 81252-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81252-9
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (バリエーションコードを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (バリエーションコードを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (バリエーションコードを表すコード値)
Fixed Value: 81252-9
....... display Σ 1..1 string Representation defined by the system (バリエーションコードの表示名)
..... value[x] Σ 1..1 CodeableConcept ClinVar ID or similar (ClinVar ID または類似のもの)
Binding: (unbound) (example): Multiple bindings acceptable

.... component:protein-hgvs Σ 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS (pHGVS)
..... code Σ 1..1 CodeableConcept 48005-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48005-3
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (タンパク質・アミノ酸の変化-pHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (タンパク質・アミノ酸の変化-pHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (タンパク質・アミノ酸の変化-pHGVSを表すコード値)
Fixed Value: 48005-3
....... display Σ 1..1 string Representation defined by the system (タンパク質・アミノ酸の変化-pHGVSの表示名)
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) (有効な HGVS 形式の「p.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
.... component:amino-acid-change-type Σ 0..1 BackboneElement Amino Acid Change Type (アミノ酸変化タイプ)
..... code Σ 1..1 CodeableConcept 48006-1 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48006-1
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (アミノ酸変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (アミノ酸変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (アミノ酸変化タイプを表すコード値)
Fixed Value: 48006-1
....... display Σ 1..1 string Representation defined by the system (アミノ酸変化タイプの表示名)
..... value[x] Σ 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent (アミノ酸変化タイプの値)
Binding: LOINC Answer List LL380-7 (extensible)
.... component:molecular-consequence Σ 0..1 BackboneElement Molecular Consequence (分子の結果)
..... code Σ 1..1 CodeableConcept molecular-consequence (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: molecular-consequence
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (分子的帰結を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (分子的帰結を定義するコード体系)
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code Σ 1..1 code Symbol in syntax defined by the system (分子的帰結を表すコード値)
Fixed Value: molecular-consequence
....... display Σ 1..1 string Representation defined by the system (分子的帰結の表示名)
..... value[x] Σ 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) (分子の結果の値)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

.... component:copy-number Σ 0..1 BackboneElement Genomic Structural Variant Copy Number (コピー番号)
..... code Σ 1..1 CodeableConcept 82155-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 82155-3
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノム構造バリアントコピー数を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノム構造バリアントコピー数を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノム構造バリアントコピー数を表すコード値)
Fixed Value: 82155-3
....... display Σ 1..1 string Representation defined by the system (ゲノム構造バリアントコピー数の表示名)
..... value[x] ΣC 0..1 Quantity Actual component result (の値)
cnt-3: There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: LOINC code 69548-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.value[x]:valueCodeableConceptrequiredLOINC LL1971-2
http://loinc.org/vs/LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.methodextensibleLOINC LL4048-6
http://loinc.org/vs/LL4048-6
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.codeexamplePattern: LOINC code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNCVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:cytogenetic-location.codeexamplePattern: LOINC code 48001-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:reference-sequence-assembly.codeexamplePattern: LOINC code 62374-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]extensibleLOINC LL1040-6
http://loinc.org/vs/LL1040-6
Observation.component:coding-hgvs.codeexamplePattern: LOINC code 48004-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.codeexamplePattern: LOINC code 81290-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:cytogenomic-nomenclature.codeexamplePattern: LOINC code 81291-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]example
Observation.component:genomic-ref-seq.codeexamplePattern: LOINC code 48013-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]example
Observation.component:transcript-ref-seq.codeexamplePattern: LOINC code 51958-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]example
Observation.component:exact-start-end.codeexamplePattern: LOINC code 81254-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:inner-start-end.codeexamplePattern: LOINC code 81302-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:outer-start-end.codeexamplePattern: LOINC code 81301-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coordinate-system.codeexamplePattern: LOINC code 92822-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coordinate-system.value[x]extensibleLOINC LL5323-2
http://loinc.org/vs/LL5323-2
Observation.component:ref-allele.codeexamplePattern: LOINC code 69547-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:alt-allele.codeexamplePattern: LOINC code 69551-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-change-type.codeexamplePattern: LOINC code 48019-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-change-type.value[x]extensibleDNAChangeTypeVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:genomic-source-class.codeexamplePattern: LOINC code 48002-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-source-class.value[x]extensibleLOINC LL378-1
http://loinc.org/vs/LL378-1
Observation.component:sample-allelic-frequency.codeexamplePattern: LOINC code 81258-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparatorrequiredQuantityComparator
http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1
from the FHIR Standard
Observation.component:allelic-read-depth.codeexamplePattern: LOINC code 82121-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-state.codeexamplePattern: LOINC code 53034-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-state.value[x]extensibleLOINC LL381-5
http://loinc.org/vs/LL381-5
Observation.component:variant-inheritance.codeexamplePattern: variant-inheritance
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-inheritance.value[x]extensibleVariantInheritanceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
Observation.component:variation-code.codeexamplePattern: LOINC code 81252-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variation-code.value[x]example
Observation.component:chromosome-identifier.codeexamplePattern: LOINC code 48000-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:chromosome-identifier.value[x]requiredLOINC LL2938-0
http://loinc.org/vs/LL2938-0
Observation.component:protein-hgvs.codeexamplePattern: LOINC code 48005-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:protein-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:amino-acid-change-type.codeexamplePattern: LOINC code 48006-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]extensibleLOINC LL380-7
http://loinc.org/vs/LL380-7
Observation.component:molecular-consequence.codeexamplePattern: molecular-consequence
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:molecular-consequence.value[x]extensibleMolecularConsequenceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:copy-number.codeexamplePattern: LOINC code 82155-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-confidence-status.codeexamplePattern: variant-confidence-status
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-confidence-status.value[x]requiredVariantConfidenceStatusVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs

Constraints

IdGradePath(s)DetailsRequirements
cnt-3errorObservation.component:copy-number.value[x]There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.
: (code.exists() or value.empty()) and (system.empty() or system = %ucum) and (code.empty() or code = '1') and (value.empty() or value.hasValue().not() or value.toString().contains('.').not())
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource
: contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4errorObservationIf a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
: contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceObservationA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
: value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* Variant Fujitsu Observation Genomic Variant Profile (ゲノムバリアントプロファイル)
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... id Σ 0..1 id Logical id of this artifact (自動採番される論理ID)
... meta Σ 0..1 Meta Metadata about the resource (リソースのメタデータ)
... text 0..1 Narrative Text summary of the resource, for human interpretation (リソースの概要)
... Slices for extension 0..* Extension Additional content defined by implementations (要素の拡張)
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation (識別子)
... status ?!Σ 1..1 code registered | preliminary | final | amended + (状態)
Binding: ObservationStatus (required): Codes providing the status of an observation.

... Slices for category 1..* CodeableConcept Classification of type of observation (カテゴリ)
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1 CodeableConcept Classification of type of observation (検査カテゴリ)
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... extension 0..0
..... coding Σ 1..* Coding Code defined by a terminology system (カテゴリの種類を表すコード)

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
...... extension 0..0
...... system Σ 1..1 uri Identity of the terminology system (カテゴリの種類を定義するコード体系)
...... code Σ 1..1 code Symbol in syntax defined by the system (カテゴリの種類を表すコード値)
...... display Σ 1..1 string Representation defined by the system (カテゴリの種類の表示名)
..... text Σ 0..1 string Plain text representation of the concept
... code Σ 1..1 CodeableConcept 69548-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 69548-6
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
.... extension 0..0
.... coding Σ 0..* Coding Code defined by a terminology system (検査の種類を表すコード)
..... extension 0..0
..... system Σ 1..1 uri Identity of the terminology system (検査の種類を定義するコード体系)
..... code Σ 1..1 code Symbol in syntax defined by the system (検査の種類を表すコード値)
..... display Σ 1..1 string Representation defined by the system (検査の種類の表示名)
.... text Σ 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(Fujitsu Patient Profile) Who and/or what the observation is about (患者)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... effective[x] Σ 0..1 dateTime Clinically relevant time/time-period for observation (検査日)
... Slices for value[x] ΣC 0..1 CodeableConcept Actual result (結果)
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC 0..1 CodeableConcept Indeterminate | No call | Present | Absent. (結果)
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing (欠損理由)
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... method 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ... (検査方法)
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1 Reference(Fujitsu Specimen Profile) Specimen used for this observation (検体)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... Slices for component Σ 0..* BackboneElement Component results (結果)
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] Σ 0..1 Actual component result
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueString string
...... valueBoolean boolean
...... valueInteger integer
...... valueRange Range
...... valueRatio Ratio
...... valueSampledData SampledData
...... valueTime time
...... valueDateTime dateTime
...... valuePeriod Period
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:gene-studied Σ 0..* BackboneElement Gene Studied (分析した遺伝子)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48018-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48018-6
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (HGNC遺伝子シンボルを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (HGNC遺伝子シンボルを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (HGNC遺伝子シンボルを表すコード値)
Fixed Value: 48018-6
....... display Σ 1..1 string Representation defined by the system (HGNC遺伝子シンボルの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. (HGNC 遺伝子シンボルは表示テキストとして使用され、HGNC 遺伝子 ID はコードとして使用されます。 この遺伝子に対してまだ HGNC コードが発行されていない場合は、NCBI 遺伝子 ID を使用するものとします 。)
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:cytogenetic-location Σ 0..* BackboneElement Cytogenetic (Chromosome) Location (細胞遺伝学的位置)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48001-2 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48001-2
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (染色体の位置を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (染色体の位置を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (染色体の位置を表すコード値)
Fixed Value: 48001-2
....... display Σ 1..1 string Representation defined by the system (染色体の位置の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Example: 1q21.1 (細胞遺伝学的位置の値)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:genomic-hgvs Σ 0..1 BackboneElement Genomic (gDNA) Change - gHGVS (gHGVS)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81290-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81290-9
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムgDNAの変化-gHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムgDNAの変化-gHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムgDNAの変化-gHGVSを表すコード値)
Fixed Value: 81290-9
....... display Σ 1..1 string Representation defined by the system (ゲノムgDNAの変化-gHGVSの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup (有効な HGVS 形式の「g.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:cytogenomic-nomenclature Σ 0..1 BackboneElement Cytogenomic Nomenclature (ISCN) (ISCN)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81291-7 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81291-7
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (細胞ゲノム命名法-ISCNを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (細胞ゲノム命名法-ISCNを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (細胞ゲノム命名法-ISCNを表すコード値)
Fixed Value: 81291-7
....... display Σ 1..1 string Representation defined by the system (細胞ゲノム命名法-ISCNの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Actual component result (ISCNの値)
Binding: (unbound) (example): Binding not yet defined

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:coding-change-type Σ 0..1 BackboneElement Coding DNA Change Type (コーディング DNA 変更タイプ)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48019-4 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48019-4
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (コーディングDNA変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (コーディングDNA変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (コーディングDNA変化タイプを表すコード値)
Fixed Value: 48019-4
....... display Σ 1..1 string Representation defined by the system (コーディングDNA変化タイプの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) (コーディング DNA 変更タイプの値)
Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:genomic-source-class Σ 0..1 BackboneElement Genomic Source Class (ゲノムソースクラス)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48002-0 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48002-0
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムソースクラスを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムソースクラスを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムソースクラスを表すコード値)
Fixed Value: 48002-0
....... display Σ 1..1 string Representation defined by the system (ゲノムソースクラスの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo (ゲノムソースクラスの値)
Binding: LOINC Answer List LL378-1 (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:sample-allelic-frequency Σ 0..1 BackboneElement Sample Allelic Frequency (サンプルの対立遺伝子頻度)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81258-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81258-6
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (サンプル対立遺伝子頻度を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (サンプル対立遺伝子頻度を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (サンプル対立遺伝子頻度を表すコード値)
Fixed Value: 81258-6
....... display Σ 1..1 string Representation defined by the system (サンプル対立遺伝子頻度の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 0..1 Quantity Relative frequency in the sample (サンプルの対立遺伝子頻度)
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value Σ 0..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

...... unit Σ 0..1 string Unit representation
...... system ΣC 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ 0..1 code Coded form of the unit
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:allelic-state Σ 0..1 BackboneElement Allelic State (対立遺伝子の状態)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 53034-5 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53034-5
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (対立遺伝子状態を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (対立遺伝子状態を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (対立遺伝子状態を表すコード値)
Fixed Value: 53034-5
....... display Σ 1..1 string Representation defined by the system (対立遺伝子状態の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous (対立遺伝子の状態の値)
Binding: LOINC Answer List LL381-5 (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:variation-code Σ 0..* BackboneElement Variation Code (バリエーションコード)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81252-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81252-9
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (バリエーションコードを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (バリエーションコードを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (バリエーションコードを表すコード値)
Fixed Value: 81252-9
....... display Σ 1..1 string Representation defined by the system (バリエーションコードの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept ClinVar ID or similar (ClinVar ID または類似のもの)
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:protein-hgvs Σ 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS (pHGVS)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48005-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48005-3
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (タンパク質・アミノ酸の変化-pHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (タンパク質・アミノ酸の変化-pHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (タンパク質・アミノ酸の変化-pHGVSを表すコード値)
Fixed Value: 48005-3
....... display Σ 1..1 string Representation defined by the system (タンパク質・アミノ酸の変化-pHGVSの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) (有効な HGVS 形式の「p.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:amino-acid-change-type Σ 0..1 BackboneElement Amino Acid Change Type (アミノ酸変化タイプ)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48006-1 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48006-1
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (アミノ酸変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (アミノ酸変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (アミノ酸変化タイプを表すコード値)
Fixed Value: 48006-1
....... display Σ 1..1 string Representation defined by the system (アミノ酸変化タイプの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent (アミノ酸変化タイプの値)
Binding: LOINC Answer List LL380-7 (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:molecular-consequence Σ 0..1 BackboneElement Molecular Consequence (分子の結果)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept molecular-consequence (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: molecular-consequence
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (分子的帰結を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (分子的帰結を定義するコード体系)
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code Σ 1..1 code Symbol in syntax defined by the system (分子的帰結を表すコード値)
Fixed Value: molecular-consequence
....... display Σ 1..1 string Representation defined by the system (分子的帰結の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) (分子の結果の値)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:copy-number Σ 0..1 BackboneElement Genomic Structural Variant Copy Number (コピー番号)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 82155-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 82155-3
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノム構造バリアントコピー数を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノム構造バリアントコピー数を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノム構造バリアントコピー数を表すコード値)
Fixed Value: 82155-3
....... display Σ 1..1 string Representation defined by the system (ゲノム構造バリアントコピー数の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] ΣC 0..1 Quantity Actual component result (の値)
cnt-3: There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.


doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: LOINC code 69548-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.value[x]:valueCodeableConceptrequiredLOINC LL1971-2
http://loinc.org/vs/LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.methodextensibleLOINC LL4048-6
http://loinc.org/vs/LL4048-6
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
http://hl7.org/fhir/ValueSet/referencerange-meaning
from the FHIR Standard
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
http://hl7.org/fhir/ValueSet/referencerange-appliesto
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:conclusion-string.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:gene-studied.codeexamplePattern: LOINC code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNCVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-studied.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:cytogenetic-location.codeexamplePattern: LOINC code 48001-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:cytogenetic-location.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:reference-sequence-assembly.codeexamplePattern: LOINC code 62374-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]extensibleLOINC LL1040-6
http://loinc.org/vs/LL1040-6
Observation.component:reference-sequence-assembly.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:reference-sequence-assembly.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:coding-hgvs.codeexamplePattern: LOINC code 48004-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:coding-hgvs.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:coding-hgvs.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:genomic-hgvs.codeexamplePattern: LOINC code 81290-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:cytogenomic-nomenclature.codeexamplePattern: LOINC code 81291-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]example
Observation.component:cytogenomic-nomenclature.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:genomic-ref-seq.codeexamplePattern: LOINC code 48013-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]example
Observation.component:genomic-ref-seq.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:genomic-ref-seq.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:transcript-ref-seq.codeexamplePattern: LOINC code 51958-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]example
Observation.component:transcript-ref-seq.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:transcript-ref-seq.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:exact-start-end.codeexamplePattern: LOINC code 81254-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:exact-start-end.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:inner-start-end.codeexamplePattern: LOINC code 81302-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:inner-start-end.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:inner-start-end.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:outer-start-end.codeexamplePattern: LOINC code 81301-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:outer-start-end.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:outer-start-end.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:coordinate-system.codeexamplePattern: LOINC code 92822-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coordinate-system.value[x]extensibleLOINC LL5323-2
http://loinc.org/vs/LL5323-2
Observation.component:coordinate-system.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:coordinate-system.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:ref-allele.codeexamplePattern: LOINC code 69547-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:ref-allele.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:ref-allele.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:alt-allele.codeexamplePattern: LOINC code 69551-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:alt-allele.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:alt-allele.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:coding-change-type.codeexamplePattern: LOINC code 48019-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-change-type.value[x]extensibleDNAChangeTypeVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:coding-change-type.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:genomic-source-class.codeexamplePattern: LOINC code 48002-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-source-class.value[x]extensibleLOINC LL378-1
http://loinc.org/vs/LL378-1
Observation.component:genomic-source-class.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:sample-allelic-frequency.codeexamplePattern: LOINC code 81258-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparatorrequiredQuantityComparator
http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1
from the FHIR Standard
Observation.component:sample-allelic-frequency.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:allelic-read-depth.codeexamplePattern: LOINC code 82121-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-read-depth.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:allelic-read-depth.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:allelic-state.codeexamplePattern: LOINC code 53034-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-state.value[x]extensibleLOINC LL381-5
http://loinc.org/vs/LL381-5
Observation.component:allelic-state.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-inheritance.codeexamplePattern: variant-inheritance
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-inheritance.value[x]extensibleVariantInheritanceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
Observation.component:variant-inheritance.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-inheritance.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:variation-code.codeexamplePattern: LOINC code 81252-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variation-code.value[x]example
Observation.component:variation-code.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:chromosome-identifier.codeexamplePattern: LOINC code 48000-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:chromosome-identifier.value[x]requiredLOINC LL2938-0
http://loinc.org/vs/LL2938-0
Observation.component:chromosome-identifier.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:chromosome-identifier.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:protein-hgvs.codeexamplePattern: LOINC code 48005-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:protein-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:protein-hgvs.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:amino-acid-change-type.codeexamplePattern: LOINC code 48006-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]extensibleLOINC LL380-7
http://loinc.org/vs/LL380-7
Observation.component:amino-acid-change-type.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:molecular-consequence.codeexamplePattern: molecular-consequence
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:molecular-consequence.value[x]extensibleMolecularConsequenceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:molecular-consequence.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:copy-number.codeexamplePattern: LOINC code 82155-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:copy-number.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-confidence-status.codeexamplePattern: variant-confidence-status
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-confidence-status.value[x]requiredVariantConfidenceStatusVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:variant-confidence-status.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-confidence-status.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
cnt-3errorObservation.component:copy-number.value[x]There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.
: (code.exists() or value.empty()) and (system.empty() or system = %ucum) and (code.empty() or code = '1') and (value.empty() or value.hasValue().not() or value.toString().contains('.').not())
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource
: contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4errorObservationIf a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
: contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceObservationA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
: value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from Variant

Summary

Mandatory: 3 elements(44 nested mandatory elements)
Fixed: 26 elements
Prohibited: 183 elements

Structures

This structure refers to these other structures:

Differential View

This structure is derived from Variant

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..* Variant Fujitsu Observation Genomic Variant Profile (ゲノムバリアントプロファイル)
... id 0..1 id Logical id of this artifact (自動採番される論理ID)
... meta 0..1 Meta Metadata about the resource (リソースのメタデータ)
... implicitRules 0..0
... language 0..0
... text 0..1 Narrative Text summary of the resource, for human interpretation (リソースの概要)
... contained 0..* Resource Contained, inline Resources (リソース内リソース)
... extension 0..* Extension Additional content defined by implementations (要素の拡張)
... extension:secondary-finding 0..0
... extension:body-structure 0..0
... modifierExtension 0..0
... identifier 0..* Identifier Business Identifier for observation (識別子)
... basedOn 0..0
... partOf 0..0
... status 1..1 code registered | preliminary | final | amended + (状態)
... category 1..* CodeableConcept Classification of type of observation (カテゴリ)
... category:labCategory 1..1 CodeableConcept Classification of type of observation (検査カテゴリ)
.... id 0..0
.... extension 0..0
.... coding 1..* Coding Code defined by a terminology system (カテゴリの種類を表すコード)
..... id 0..0
..... extension 0..0
..... system 1..1 uri Identity of the terminology system (カテゴリの種類を定義するコード体系)
..... version 0..0
..... code 1..1 code Symbol in syntax defined by the system (カテゴリの種類を表すコード値)
..... display 1..1 string Representation defined by the system (カテゴリの種類の表示名)
..... userSelected 0..0
... code 1..1 CodeableConcept 69548-6 (検査名)
.... id 0..0
.... extension 0..0
.... coding 0..* Coding Code defined by a terminology system (検査の種類を表すコード)
..... id 0..0
..... extension 0..0
..... system 1..1 uri Identity of the terminology system (検査の種類を定義するコード体系)
..... version 0..0
..... code 1..1 code Symbol in syntax defined by the system (検査の種類を表すコード値)
..... display 1..1 string Representation defined by the system (検査の種類の表示名)
..... userSelected 0..0
... subject 0..1 Reference(Fujitsu Patient Profile) Who and/or what the observation is about (患者)
.... id 0..0
.... extension 0..0
.... reference 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... type 0..0
.... identifier 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
.... display 0..0
... focus 0..0
... encounter 0..0
... effective[x] 0..1 dateTime Clinically relevant time/time-period for observation (検査日)
... issued 0..0
... performer 0..0
... value[x] 0..1 CodeableConcept Actual result (結果)
... value[x]:valueCodeableConcept 0..1 CodeableConcept Indeterminate | No call | Present | Absent. (結果)
... dataAbsentReason 0..1 CodeableConcept Why the result is missing (欠損理由)
... interpretation 0..0
... note 0..0
... bodySite 0..0
... method 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ... (検査方法)
... specimen 0..1 Reference(Fujitsu Specimen Profile) Specimen used for this observation (検体)
.... id 0..0
.... extension 0..0
.... reference 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... type 0..0
.... identifier 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
.... display 0..0
... device 0..0
... referenceRange 0..0
... hasMember 0..0
... derivedFrom 0..0
... component 0..* BackboneElement Component results (結果)
... component:conclusion-string 0..0
... component:gene-studied 0..* BackboneElement Gene Studied (分析した遺伝子)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48018-6 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (HGNC遺伝子シンボルを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (HGNC遺伝子シンボルを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (HGNC遺伝子シンボルを表すコード値)
Fixed Value: 48018-6
...... display 1..1 string Representation defined by the system (HGNC遺伝子シンボルの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. (HGNC 遺伝子シンボルは表示テキストとして使用され、HGNC 遺伝子 ID はコードとして使用されます。 この遺伝子に対してまだ HGNC コードが発行されていない場合は、NCBI 遺伝子 ID を使用するものとします 。)
.... interpretation 0..0
.... referenceRange 0..0
... component:cytogenetic-location 0..* BackboneElement Cytogenetic (Chromosome) Location (細胞遺伝学的位置)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48001-2 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (染色体の位置を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (染色体の位置を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (染色体の位置を表すコード値)
Fixed Value: 48001-2
...... display 1..1 string Representation defined by the system (染色体の位置の表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Example: 1q21.1 (細胞遺伝学的位置の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:reference-sequence-assembly 0..0
... component:coding-hgvs 0..0
... component:genomic-hgvs 0..1 BackboneElement Genomic (gDNA) Change - gHGVS (gHGVS)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81290-9 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (ゲノムgDNAの変化-gHGVSを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (ゲノムgDNAの変化-gHGVSを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (ゲノムgDNAの変化-gHGVSを表すコード値)
Fixed Value: 81290-9
...... display 1..1 string Representation defined by the system (ゲノムgDNAの変化-gHGVSの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup (有効な HGVS 形式の「g.」から始まる 文字列)
.... interpretation 0..0
.... referenceRange 0..0
... component:cytogenomic-nomenclature 0..1 BackboneElement Cytogenomic Nomenclature (ISCN) (ISCN)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81291-7 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (細胞ゲノム命名法-ISCNを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (細胞ゲノム命名法-ISCNを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (細胞ゲノム命名法-ISCNを表すコード値)
Fixed Value: 81291-7
...... display 1..1 string Representation defined by the system (細胞ゲノム命名法-ISCNの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Actual component result (ISCNの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:genomic-ref-seq 0..0
... component:transcript-ref-seq 0..0
... component:exact-start-end 0..0
... component:inner-start-end 0..0
... component:outer-start-end 0..0
... component:coordinate-system 0..0
... component:ref-allele 0..0
... component:alt-allele 0..0
... component:coding-change-type 0..1 BackboneElement Coding DNA Change Type (コーディング DNA 変更タイプ)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48019-4 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (コーディングDNA変化タイプを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (コーディングDNA変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (コーディングDNA変化タイプを表すコード値)
Fixed Value: 48019-4
...... display 1..1 string Representation defined by the system (コーディングDNA変化タイプの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) (コーディング DNA 変更タイプの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:genomic-source-class 0..1 BackboneElement Genomic Source Class (ゲノムソースクラス)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48002-0 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (ゲノムソースクラスを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (ゲノムソースクラスを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (ゲノムソースクラスを表すコード値)
Fixed Value: 48002-0
...... display 1..1 string Representation defined by the system (ゲノムソースクラスの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo (ゲノムソースクラスの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:sample-allelic-frequency 0..1 BackboneElement Sample Allelic Frequency (サンプルの対立遺伝子頻度)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81258-6 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (サンプル対立遺伝子頻度を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (サンプル対立遺伝子頻度を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (サンプル対立遺伝子頻度を表すコード値)
Fixed Value: 81258-6
...... display 1..1 string Representation defined by the system (サンプル対立遺伝子頻度の表示名)
...... userSelected 0..0
.... value[x] 0..1 Quantity Relative frequency in the sample (サンプルの対立遺伝子頻度)
.... interpretation 0..0
.... referenceRange 0..0
... component:allelic-read-depth 0..0
... component:allelic-state 0..1 BackboneElement Allelic State (対立遺伝子の状態)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 53034-5 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (対立遺伝子状態を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (対立遺伝子状態を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (対立遺伝子状態を表すコード値)
Fixed Value: 53034-5
...... display 1..1 string Representation defined by the system (対立遺伝子状態の表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous (対立遺伝子の状態の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:variant-inheritance 0..0
... component:variation-code 0..* BackboneElement Variation Code (バリエーションコード)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 81252-9 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (バリエーションコードを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (バリエーションコードを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (バリエーションコードを表すコード値)
Fixed Value: 81252-9
...... display 1..1 string Representation defined by the system (バリエーションコードの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept ClinVar ID or similar (ClinVar ID または類似のもの)
.... interpretation 0..0
.... referenceRange 0..0
... component:chromosome-identifier 0..0
... component:protein-hgvs 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS (pHGVS)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48005-3 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (タンパク質・アミノ酸の変化-pHGVSを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (タンパク質・アミノ酸の変化-pHGVSを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (タンパク質・アミノ酸の変化-pHGVSを表すコード値)
Fixed Value: 48005-3
...... display 1..1 string Representation defined by the system (タンパク質・アミノ酸の変化-pHGVSの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) (有効な HGVS 形式の「p.」から始まる 文字列)
.... interpretation 0..0
.... referenceRange 0..0
... component:amino-acid-change-type 0..1 BackboneElement Amino Acid Change Type (アミノ酸変化タイプ)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 48006-1 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (アミノ酸変化タイプを表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (アミノ酸変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (アミノ酸変化タイプを表すコード値)
Fixed Value: 48006-1
...... display 1..1 string Representation defined by the system (アミノ酸変化タイプの表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent (アミノ酸変化タイプの値)
.... interpretation 0..0
.... referenceRange 0..0
... component:molecular-consequence 0..1 BackboneElement Molecular Consequence (分子の結果)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept molecular-consequence (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (分子的帰結を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (分子的帰結を定義するコード体系)
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (分子的帰結を表すコード値)
Fixed Value: molecular-consequence
...... display 1..1 string Representation defined by the system (分子的帰結の表示名)
...... userSelected 0..0
.... value[x] 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) (分子の結果の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:copy-number 0..1 BackboneElement Genomic Structural Variant Copy Number (コピー番号)
.... extension 0..0
.... modifierExtension 0..0
.... code 1..1 CodeableConcept 82155-3 (検査名)
..... id 0..0
..... extension 0..0
..... coding 0..* Coding Code defined by a terminology system (ゲノム構造バリアントコピー数を表すコード)
...... id 0..0
...... extension 0..0
...... system 1..1 uri Identity of the terminology system (ゲノム構造バリアントコピー数を定義するコード体系)
Fixed Value: http://loinc.org
...... version 0..0
...... code 1..1 code Symbol in syntax defined by the system (ゲノム構造バリアントコピー数を表すコード値)
Fixed Value: 82155-3
...... display 1..1 string Representation defined by the system (ゲノム構造バリアントコピー数の表示名)
...... userSelected 0..0
.... value[x] 0..1 Quantity Actual component result (の値)
.... interpretation 0..0
.... referenceRange 0..0
... component:variant-confidence-status 0..0

doco Documentation for this format

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* Variant Fujitsu Observation Genomic Variant Profile (ゲノムバリアントプロファイル)
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... id Σ 0..1 id Logical id of this artifact (自動採番される論理ID)
... meta Σ 0..1 Meta Metadata about the resource (リソースのメタデータ)
... text 0..1 Narrative Text summary of the resource, for human interpretation (リソースの概要)
... Slices for extension 0..* Extension Additional content defined by implementations (要素の拡張)
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation (識別子)
... status ?!Σ 1..1 code registered | preliminary | final | amended + (状態)
Binding: ObservationStatus (required): Codes providing the status of an observation.

... Slices for category 1..* CodeableConcept Classification of type of observation (カテゴリ)
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1 CodeableConcept Classification of type of observation (検査カテゴリ)
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... extension 0..0
..... coding Σ 1..* Coding Code defined by a terminology system (カテゴリの種類を表すコード)

Required Pattern: At least the following
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
...... extension 0..0
...... system Σ 1..1 uri Identity of the terminology system (カテゴリの種類を定義するコード体系)
...... code Σ 1..1 code Symbol in syntax defined by the system (カテゴリの種類を表すコード値)
...... display Σ 1..1 string Representation defined by the system (カテゴリの種類の表示名)
... code Σ 1..1 CodeableConcept 69548-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 69548-6
.... extension 0..0
.... coding Σ 0..* Coding Code defined by a terminology system (検査の種類を表すコード)
..... extension 0..0
..... system Σ 1..1 uri Identity of the terminology system (検査の種類を定義するコード体系)
..... code Σ 1..1 code Symbol in syntax defined by the system (検査の種類を表すコード値)
..... display Σ 1..1 string Representation defined by the system (検査の種類の表示名)
... subject Σ 0..1 Reference(Fujitsu Patient Profile) Who and/or what the observation is about (患者)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... effective[x] Σ 0..1 dateTime Clinically relevant time/time-period for observation (検査日)
... Slices for value[x] ΣC 0..1 CodeableConcept Actual result (結果)
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC 0..1 CodeableConcept Indeterminate | No call | Present | Absent. (結果)
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing (欠損理由)
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... method 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ... (検査方法)
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1 Reference(Fujitsu Specimen Profile) Specimen used for this observation (検体)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... Slices for component Σ 0..* BackboneElement Component results (結果)
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

.... component:gene-studied Σ 0..* BackboneElement Gene Studied (分析した遺伝子)
..... code Σ 1..1 CodeableConcept 48018-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48018-6
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (HGNC遺伝子シンボルを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (HGNC遺伝子シンボルを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (HGNC遺伝子シンボルを表すコード値)
Fixed Value: 48018-6
....... display Σ 1..1 string Representation defined by the system (HGNC遺伝子シンボルの表示名)
..... value[x] Σ 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. (HGNC 遺伝子シンボルは表示テキストとして使用され、HGNC 遺伝子 ID はコードとして使用されます。 この遺伝子に対してまだ HGNC コードが発行されていない場合は、NCBI 遺伝子 ID を使用するものとします 。)
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
.... component:cytogenetic-location Σ 0..* BackboneElement Cytogenetic (Chromosome) Location (細胞遺伝学的位置)
..... code Σ 1..1 CodeableConcept 48001-2 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48001-2
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (染色体の位置を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (染色体の位置を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (染色体の位置を表すコード値)
Fixed Value: 48001-2
....... display Σ 1..1 string Representation defined by the system (染色体の位置の表示名)
..... value[x] Σ 1..1 CodeableConcept Example: 1q21.1 (細胞遺伝学的位置の値)
.... component:genomic-hgvs Σ 0..1 BackboneElement Genomic (gDNA) Change - gHGVS (gHGVS)
..... code Σ 1..1 CodeableConcept 81290-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81290-9
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムgDNAの変化-gHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムgDNAの変化-gHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムgDNAの変化-gHGVSを表すコード値)
Fixed Value: 81290-9
....... display Σ 1..1 string Representation defined by the system (ゲノムgDNAの変化-gHGVSの表示名)
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup (有効な HGVS 形式の「g.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
.... component:cytogenomic-nomenclature Σ 0..1 BackboneElement Cytogenomic Nomenclature (ISCN) (ISCN)
..... code Σ 1..1 CodeableConcept 81291-7 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81291-7
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (細胞ゲノム命名法-ISCNを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (細胞ゲノム命名法-ISCNを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (細胞ゲノム命名法-ISCNを表すコード値)
Fixed Value: 81291-7
....... display Σ 1..1 string Representation defined by the system (細胞ゲノム命名法-ISCNの表示名)
..... value[x] Σ 1..1 CodeableConcept Actual component result (ISCNの値)
Binding: (unbound) (example): Binding not yet defined

.... component:coding-change-type Σ 0..1 BackboneElement Coding DNA Change Type (コーディング DNA 変更タイプ)
..... code Σ 1..1 CodeableConcept 48019-4 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48019-4
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (コーディングDNA変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (コーディングDNA変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (コーディングDNA変化タイプを表すコード値)
Fixed Value: 48019-4
....... display Σ 1..1 string Representation defined by the system (コーディングDNA変化タイプの表示名)
..... value[x] Σ 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) (コーディング DNA 変更タイプの値)
Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072

.... component:genomic-source-class Σ 0..1 BackboneElement Genomic Source Class (ゲノムソースクラス)
..... code Σ 1..1 CodeableConcept 48002-0 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48002-0
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムソースクラスを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムソースクラスを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムソースクラスを表すコード値)
Fixed Value: 48002-0
....... display Σ 1..1 string Representation defined by the system (ゲノムソースクラスの表示名)
..... value[x] Σ 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo (ゲノムソースクラスの値)
Binding: LOINC Answer List LL378-1 (extensible)
.... component:sample-allelic-frequency Σ 0..1 BackboneElement Sample Allelic Frequency (サンプルの対立遺伝子頻度)
..... code Σ 1..1 CodeableConcept 81258-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81258-6
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (サンプル対立遺伝子頻度を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (サンプル対立遺伝子頻度を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (サンプル対立遺伝子頻度を表すコード値)
Fixed Value: 81258-6
....... display Σ 1..1 string Representation defined by the system (サンプル対立遺伝子頻度の表示名)
..... value[x] Σ 0..1 Quantity Relative frequency in the sample (サンプルの対立遺伝子頻度)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

.... component:allelic-state Σ 0..1 BackboneElement Allelic State (対立遺伝子の状態)
..... code Σ 1..1 CodeableConcept 53034-5 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53034-5
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (対立遺伝子状態を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (対立遺伝子状態を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (対立遺伝子状態を表すコード値)
Fixed Value: 53034-5
....... display Σ 1..1 string Representation defined by the system (対立遺伝子状態の表示名)
..... value[x] Σ 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous (対立遺伝子の状態の値)
Binding: LOINC Answer List LL381-5 (extensible)
.... component:variation-code Σ 0..* BackboneElement Variation Code (バリエーションコード)
..... code Σ 1..1 CodeableConcept 81252-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81252-9
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (バリエーションコードを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (バリエーションコードを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (バリエーションコードを表すコード値)
Fixed Value: 81252-9
....... display Σ 1..1 string Representation defined by the system (バリエーションコードの表示名)
..... value[x] Σ 1..1 CodeableConcept ClinVar ID or similar (ClinVar ID または類似のもの)
Binding: (unbound) (example): Multiple bindings acceptable

.... component:protein-hgvs Σ 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS (pHGVS)
..... code Σ 1..1 CodeableConcept 48005-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48005-3
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (タンパク質・アミノ酸の変化-pHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (タンパク質・アミノ酸の変化-pHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (タンパク質・アミノ酸の変化-pHGVSを表すコード値)
Fixed Value: 48005-3
....... display Σ 1..1 string Representation defined by the system (タンパク質・アミノ酸の変化-pHGVSの表示名)
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) (有効な HGVS 形式の「p.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
.... component:amino-acid-change-type Σ 0..1 BackboneElement Amino Acid Change Type (アミノ酸変化タイプ)
..... code Σ 1..1 CodeableConcept 48006-1 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48006-1
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (アミノ酸変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (アミノ酸変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (アミノ酸変化タイプを表すコード値)
Fixed Value: 48006-1
....... display Σ 1..1 string Representation defined by the system (アミノ酸変化タイプの表示名)
..... value[x] Σ 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent (アミノ酸変化タイプの値)
Binding: LOINC Answer List LL380-7 (extensible)
.... component:molecular-consequence Σ 0..1 BackboneElement Molecular Consequence (分子の結果)
..... code Σ 1..1 CodeableConcept molecular-consequence (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: molecular-consequence
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (分子的帰結を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (分子的帰結を定義するコード体系)
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code Σ 1..1 code Symbol in syntax defined by the system (分子的帰結を表すコード値)
Fixed Value: molecular-consequence
....... display Σ 1..1 string Representation defined by the system (分子的帰結の表示名)
..... value[x] Σ 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) (分子の結果の値)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

.... component:copy-number Σ 0..1 BackboneElement Genomic Structural Variant Copy Number (コピー番号)
..... code Σ 1..1 CodeableConcept 82155-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 82155-3
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノム構造バリアントコピー数を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノム構造バリアントコピー数を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノム構造バリアントコピー数を表すコード値)
Fixed Value: 82155-3
....... display Σ 1..1 string Representation defined by the system (ゲノム構造バリアントコピー数の表示名)
..... value[x] ΣC 0..1 Quantity Actual component result (の値)
cnt-3: There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: LOINC code 69548-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.value[x]:valueCodeableConceptrequiredLOINC LL1971-2
http://loinc.org/vs/LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.methodextensibleLOINC LL4048-6
http://loinc.org/vs/LL4048-6
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.codeexamplePattern: LOINC code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNCVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:cytogenetic-location.codeexamplePattern: LOINC code 48001-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:reference-sequence-assembly.codeexamplePattern: LOINC code 62374-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]extensibleLOINC LL1040-6
http://loinc.org/vs/LL1040-6
Observation.component:coding-hgvs.codeexamplePattern: LOINC code 48004-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.codeexamplePattern: LOINC code 81290-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:cytogenomic-nomenclature.codeexamplePattern: LOINC code 81291-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]example
Observation.component:genomic-ref-seq.codeexamplePattern: LOINC code 48013-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]example
Observation.component:transcript-ref-seq.codeexamplePattern: LOINC code 51958-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]example
Observation.component:exact-start-end.codeexamplePattern: LOINC code 81254-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:inner-start-end.codeexamplePattern: LOINC code 81302-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:outer-start-end.codeexamplePattern: LOINC code 81301-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coordinate-system.codeexamplePattern: LOINC code 92822-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coordinate-system.value[x]extensibleLOINC LL5323-2
http://loinc.org/vs/LL5323-2
Observation.component:ref-allele.codeexamplePattern: LOINC code 69547-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:alt-allele.codeexamplePattern: LOINC code 69551-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-change-type.codeexamplePattern: LOINC code 48019-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-change-type.value[x]extensibleDNAChangeTypeVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:genomic-source-class.codeexamplePattern: LOINC code 48002-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-source-class.value[x]extensibleLOINC LL378-1
http://loinc.org/vs/LL378-1
Observation.component:sample-allelic-frequency.codeexamplePattern: LOINC code 81258-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparatorrequiredQuantityComparator
http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1
from the FHIR Standard
Observation.component:allelic-read-depth.codeexamplePattern: LOINC code 82121-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-state.codeexamplePattern: LOINC code 53034-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-state.value[x]extensibleLOINC LL381-5
http://loinc.org/vs/LL381-5
Observation.component:variant-inheritance.codeexamplePattern: variant-inheritance
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-inheritance.value[x]extensibleVariantInheritanceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
Observation.component:variation-code.codeexamplePattern: LOINC code 81252-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variation-code.value[x]example
Observation.component:chromosome-identifier.codeexamplePattern: LOINC code 48000-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:chromosome-identifier.value[x]requiredLOINC LL2938-0
http://loinc.org/vs/LL2938-0
Observation.component:protein-hgvs.codeexamplePattern: LOINC code 48005-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:protein-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:amino-acid-change-type.codeexamplePattern: LOINC code 48006-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]extensibleLOINC LL380-7
http://loinc.org/vs/LL380-7
Observation.component:molecular-consequence.codeexamplePattern: molecular-consequence
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:molecular-consequence.value[x]extensibleMolecularConsequenceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:copy-number.codeexamplePattern: LOINC code 82155-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-confidence-status.codeexamplePattern: variant-confidence-status
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-confidence-status.value[x]requiredVariantConfidenceStatusVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs

Constraints

IdGradePath(s)DetailsRequirements
cnt-3errorObservation.component:copy-number.value[x]There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.
: (code.exists() or value.empty()) and (system.empty() or system = %ucum) and (code.empty() or code = '1') and (value.empty() or value.hasValue().not() or value.toString().contains('.').not())
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource
: contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4errorObservationIf a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
: contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceObservationA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
: value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* Variant Fujitsu Observation Genomic Variant Profile (ゲノムバリアントプロファイル)
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... id Σ 0..1 id Logical id of this artifact (自動採番される論理ID)
... meta Σ 0..1 Meta Metadata about the resource (リソースのメタデータ)
... text 0..1 Narrative Text summary of the resource, for human interpretation (リソースの概要)
... Slices for extension 0..* Extension Additional content defined by implementations (要素の拡張)
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation (識別子)
... status ?!Σ 1..1 code registered | preliminary | final | amended + (状態)
Binding: ObservationStatus (required): Codes providing the status of an observation.

... Slices for category 1..* CodeableConcept Classification of type of observation (カテゴリ)
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1 CodeableConcept Classification of type of observation (検査カテゴリ)
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... extension 0..0
..... coding Σ 1..* Coding Code defined by a terminology system (カテゴリの種類を表すコード)

Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
...... extension 0..0
...... system Σ 1..1 uri Identity of the terminology system (カテゴリの種類を定義するコード体系)
...... code Σ 1..1 code Symbol in syntax defined by the system (カテゴリの種類を表すコード値)
...... display Σ 1..1 string Representation defined by the system (カテゴリの種類の表示名)
..... text Σ 0..1 string Plain text representation of the concept
... code Σ 1..1 CodeableConcept 69548-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 69548-6
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text 0..1 string Plain text representation of the concept
.... extension 0..0
.... coding Σ 0..* Coding Code defined by a terminology system (検査の種類を表すコード)
..... extension 0..0
..... system Σ 1..1 uri Identity of the terminology system (検査の種類を定義するコード体系)
..... code Σ 1..1 code Symbol in syntax defined by the system (検査の種類を表すコード値)
..... display Σ 1..1 string Representation defined by the system (検査の種類の表示名)
.... text Σ 0..1 string Plain text representation of the concept
... subject Σ 0..1 Reference(Fujitsu Patient Profile) Who and/or what the observation is about (患者)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... effective[x] Σ 0..1 dateTime Clinically relevant time/time-period for observation (検査日)
... Slices for value[x] ΣC 0..1 CodeableConcept Actual result (結果)
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC 0..1 CodeableConcept Indeterminate | No call | Present | Absent. (結果)
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing (欠損理由)
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... method 0..1 CodeableConcept Sequencing | SNP array | PCR | Computational analysis | ... (検査方法)
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1 Reference(Fujitsu Specimen Profile) Specimen used for this observation (検体)
.... extension 0..0
.... reference ΣC 1..1 string Literal reference, Relative, internal or absolute URL (相対URLのリテラル参照)
.... identifier Σ 0..1 Identifier Logical reference, when literal reference is not known (データ取り込みで使用する論理参照)
... Slices for component Σ 0..* BackboneElement Component results (結果)
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] Σ 0..1 Actual component result
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueString string
...... valueBoolean boolean
...... valueInteger integer
...... valueRange Range
...... valueRatio Ratio
...... valueSampledData SampledData
...... valueTime time
...... valueDateTime dateTime
...... valuePeriod Period
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result
.... component:gene-studied Σ 0..* BackboneElement Gene Studied (分析した遺伝子)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48018-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48018-6
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (HGNC遺伝子シンボルを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (HGNC遺伝子シンボルを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (HGNC遺伝子シンボルを表すコード値)
Fixed Value: 48018-6
....... display Σ 1..1 string Representation defined by the system (HGNC遺伝子シンボルの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. (HGNC 遺伝子シンボルは表示テキストとして使用され、HGNC 遺伝子 ID はコードとして使用されます。 この遺伝子に対してまだ HGNC コードが発行されていない場合は、NCBI 遺伝子 ID を使用するものとします 。)
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:cytogenetic-location Σ 0..* BackboneElement Cytogenetic (Chromosome) Location (細胞遺伝学的位置)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48001-2 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48001-2
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (染色体の位置を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (染色体の位置を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (染色体の位置を表すコード値)
Fixed Value: 48001-2
....... display Σ 1..1 string Representation defined by the system (染色体の位置の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Example: 1q21.1 (細胞遺伝学的位置の値)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:genomic-hgvs Σ 0..1 BackboneElement Genomic (gDNA) Change - gHGVS (gHGVS)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81290-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81290-9
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムgDNAの変化-gHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムgDNAの変化-gHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムgDNAの変化-gHGVSを表すコード値)
Fixed Value: 81290-9
....... display Σ 1..1 string Representation defined by the system (ゲノムgDNAの変化-gHGVSの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup (有効な HGVS 形式の「g.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:cytogenomic-nomenclature Σ 0..1 BackboneElement Cytogenomic Nomenclature (ISCN) (ISCN)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81291-7 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81291-7
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (細胞ゲノム命名法-ISCNを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (細胞ゲノム命名法-ISCNを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (細胞ゲノム命名法-ISCNを表すコード値)
Fixed Value: 81291-7
....... display Σ 1..1 string Representation defined by the system (細胞ゲノム命名法-ISCNの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Actual component result (ISCNの値)
Binding: (unbound) (example): Binding not yet defined

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:coding-change-type Σ 0..1 BackboneElement Coding DNA Change Type (コーディング DNA 変更タイプ)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48019-4 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48019-4
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (コーディングDNA変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (コーディングDNA変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (コーディングDNA変化タイプを表すコード値)
Fixed Value: 48019-4
....... display Σ 1..1 string Representation defined by the system (コーディングDNA変化タイプの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) (コーディング DNA 変更タイプの値)
Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:genomic-source-class Σ 0..1 BackboneElement Genomic Source Class (ゲノムソースクラス)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48002-0 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48002-0
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノムソースクラスを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノムソースクラスを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノムソースクラスを表すコード値)
Fixed Value: 48002-0
....... display Σ 1..1 string Representation defined by the system (ゲノムソースクラスの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo (ゲノムソースクラスの値)
Binding: LOINC Answer List LL378-1 (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:sample-allelic-frequency Σ 0..1 BackboneElement Sample Allelic Frequency (サンプルの対立遺伝子頻度)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81258-6 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81258-6
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (サンプル対立遺伝子頻度を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (サンプル対立遺伝子頻度を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (サンプル対立遺伝子頻度を表すコード値)
Fixed Value: 81258-6
....... display Σ 1..1 string Representation defined by the system (サンプル対立遺伝子頻度の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 0..1 Quantity Relative frequency in the sample (サンプルの対立遺伝子頻度)
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
...... value Σ 0..1 decimal Numerical value (with implicit precision)
...... comparator ?!Σ 0..1 code < | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

...... unit Σ 0..1 string Unit representation
...... system ΣC 0..1 uri System that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ 0..1 code Coded form of the unit
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:allelic-state Σ 0..1 BackboneElement Allelic State (対立遺伝子の状態)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 53034-5 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 53034-5
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (対立遺伝子状態を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (対立遺伝子状態を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (対立遺伝子状態を表すコード値)
Fixed Value: 53034-5
....... display Σ 1..1 string Representation defined by the system (対立遺伝子状態の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous (対立遺伝子の状態の値)
Binding: LOINC Answer List LL381-5 (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:variation-code Σ 0..* BackboneElement Variation Code (バリエーションコード)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 81252-9 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 81252-9
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (バリエーションコードを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (バリエーションコードを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (バリエーションコードを表すコード値)
Fixed Value: 81252-9
....... display Σ 1..1 string Representation defined by the system (バリエーションコードの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept ClinVar ID or similar (ClinVar ID または類似のもの)
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:protein-hgvs Σ 0..1 BackboneElement Protein (Amino Acid) Change - pHGVS (pHGVS)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48005-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48005-3
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (タンパク質・アミノ酸の変化-pHGVSを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (タンパク質・アミノ酸の変化-pHGVSを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (タンパク質・アミノ酸の変化-pHGVSを表すコード値)
Fixed Value: 48005-3
....... display Σ 1..1 string Representation defined by the system (タンパク質・アミノ酸の変化-pHGVSの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) (有効な HGVS 形式の「p.」から始まる 文字列)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:amino-acid-change-type Σ 0..1 BackboneElement Amino Acid Change Type (アミノ酸変化タイプ)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 48006-1 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 48006-1
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (アミノ酸変化タイプを表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (アミノ酸変化タイプを定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (アミノ酸変化タイプを表すコード値)
Fixed Value: 48006-1
....... display Σ 1..1 string Representation defined by the system (アミノ酸変化タイプの表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent (アミノ酸変化タイプの値)
Binding: LOINC Answer List LL380-7 (extensible)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:molecular-consequence Σ 0..1 BackboneElement Molecular Consequence (分子の結果)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept molecular-consequence (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: molecular-consequence
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (分子的帰結を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (分子的帰結を定義するコード体系)
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... code Σ 1..1 code Symbol in syntax defined by the system (分子的帰結を表すコード値)
Fixed Value: molecular-consequence
....... display Σ 1..1 string Representation defined by the system (分子的帰結の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] Σ 1..1 CodeableConcept stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) (分子の結果の値)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... component:copy-number Σ 0..1 BackboneElement Genomic Structural Variant Copy Number (コピー番号)
..... id 0..1 string Unique id for inter-element referencing
..... code Σ 1..1 CodeableConcept 82155-3 (検査名)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id 0..1 string Unique id for inter-element referencing
...... extension 0..* Extension Additional content defined by implementations
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... id 0..1 string Unique id for inter-element referencing
....... extension 0..* Extension Additional content defined by implementations
....... system 1..1 uri Identity of the terminology system
Fixed Value: http://loinc.org
....... version 0..1 string Version of the system - if relevant
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: 82155-3
....... display 0..1 string Representation defined by the system
....... userSelected 0..1 boolean If this coding was chosen directly by the user
...... text 0..1 string Plain text representation of the concept
...... extension 0..0
...... coding Σ 0..* Coding Code defined by a terminology system (ゲノム構造バリアントコピー数を表すコード)
....... extension 0..0
....... system Σ 1..1 uri Identity of the terminology system (ゲノム構造バリアントコピー数を定義するコード体系)
Fixed Value: http://loinc.org
....... code Σ 1..1 code Symbol in syntax defined by the system (ゲノム構造バリアントコピー数を表すコード値)
Fixed Value: 82155-3
....... display Σ 1..1 string Representation defined by the system (ゲノム構造バリアントコピー数の表示名)
...... text Σ 0..1 string Plain text representation of the concept
..... value[x] ΣC 0..1 Quantity Actual component result (の値)
cnt-3: There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.


doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.0.1
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.category:labCategorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexamplePattern: LOINC code 69548-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.value[x]:valueCodeableConceptrequiredLOINC LL1971-2
http://loinc.org/vs/LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.methodextensibleLOINC LL4048-6
http://loinc.org/vs/LL4048-6
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
http://hl7.org/fhir/ValueSet/referencerange-meaning
from the FHIR Standard
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
http://hl7.org/fhir/ValueSet/referencerange-appliesto
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:conclusion-string.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:gene-studied.codeexamplePattern: LOINC code 48018-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:gene-studied.value[x]extensibleHGNCVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-studied.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:cytogenetic-location.codeexamplePattern: LOINC code 48001-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:cytogenetic-location.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:reference-sequence-assembly.codeexamplePattern: LOINC code 62374-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]extensibleLOINC LL1040-6
http://loinc.org/vs/LL1040-6
Observation.component:reference-sequence-assembly.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:reference-sequence-assembly.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:coding-hgvs.codeexamplePattern: LOINC code 48004-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:coding-hgvs.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:coding-hgvs.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:genomic-hgvs.codeexamplePattern: LOINC code 81290-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:cytogenomic-nomenclature.codeexamplePattern: LOINC code 81291-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]example
Observation.component:cytogenomic-nomenclature.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:genomic-ref-seq.codeexamplePattern: LOINC code 48013-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]example
Observation.component:genomic-ref-seq.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:genomic-ref-seq.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:transcript-ref-seq.codeexamplePattern: LOINC code 51958-7
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]example
Observation.component:transcript-ref-seq.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:transcript-ref-seq.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:exact-start-end.codeexamplePattern: LOINC code 81254-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:exact-start-end.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:inner-start-end.codeexamplePattern: LOINC code 81302-2
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:inner-start-end.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:inner-start-end.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:outer-start-end.codeexamplePattern: LOINC code 81301-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:outer-start-end.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:outer-start-end.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:coordinate-system.codeexamplePattern: LOINC code 92822-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coordinate-system.value[x]extensibleLOINC LL5323-2
http://loinc.org/vs/LL5323-2
Observation.component:coordinate-system.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:coordinate-system.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:ref-allele.codeexamplePattern: LOINC code 69547-8
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:ref-allele.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:ref-allele.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:alt-allele.codeexamplePattern: LOINC code 69551-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:alt-allele.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:alt-allele.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:coding-change-type.codeexamplePattern: LOINC code 48019-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:coding-change-type.value[x]extensibleDNAChangeTypeVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:coding-change-type.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:genomic-source-class.codeexamplePattern: LOINC code 48002-0
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:genomic-source-class.value[x]extensibleLOINC LL378-1
http://loinc.org/vs/LL378-1
Observation.component:genomic-source-class.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:sample-allelic-frequency.codeexamplePattern: LOINC code 81258-6
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparatorrequiredQuantityComparator
http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1
from the FHIR Standard
Observation.component:sample-allelic-frequency.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:allelic-read-depth.codeexamplePattern: LOINC code 82121-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-read-depth.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:allelic-read-depth.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:allelic-state.codeexamplePattern: LOINC code 53034-5
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:allelic-state.value[x]extensibleLOINC LL381-5
http://loinc.org/vs/LL381-5
Observation.component:allelic-state.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-inheritance.codeexamplePattern: variant-inheritance
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-inheritance.value[x]extensibleVariantInheritanceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
Observation.component:variant-inheritance.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-inheritance.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:variation-code.codeexamplePattern: LOINC code 81252-9
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variation-code.value[x]example
Observation.component:variation-code.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:chromosome-identifier.codeexamplePattern: LOINC code 48000-4
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:chromosome-identifier.value[x]requiredLOINC LL2938-0
http://loinc.org/vs/LL2938-0
Observation.component:chromosome-identifier.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:chromosome-identifier.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard
Observation.component:protein-hgvs.codeexamplePattern: LOINC code 48005-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:protein-hgvs.value[x]requiredHGVSVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:protein-hgvs.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:amino-acid-change-type.codeexamplePattern: LOINC code 48006-1
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]extensibleLOINC LL380-7
http://loinc.org/vs/LL380-7
Observation.component:amino-acid-change-type.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:molecular-consequence.codeexamplePattern: molecular-consequence
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:molecular-consequence.value[x]extensibleMolecularConsequenceVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:molecular-consequence.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:copy-number.codeexamplePattern: LOINC code 82155-3
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:copy-number.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-confidence-status.codeexamplePattern: variant-confidence-status
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:variant-confidence-status.value[x]requiredVariantConfidenceStatusVS
http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:variant-confidence-status.dataAbsentReasonextensibleDataAbsentReason
http://hl7.org/fhir/ValueSet/data-absent-reason
from the FHIR Standard
Observation.component:variant-confidence-status.interpretationextensibleObservationInterpretationCodes
http://hl7.org/fhir/ValueSet/observation-interpretation
from the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
cnt-3errorObservation.component:copy-number.value[x]There SHALL be a code with a value of '1' if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number.
: (code.exists() or value.empty()) and (system.empty() or system = %ucum) and (code.empty() or code = '1') and (value.empty() or value.hasValue().not() or value.toString().contains('.').not())
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource
: contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4errorObservationIf a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
: contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceObservationA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
: value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from Variant

Summary

Mandatory: 3 elements(44 nested mandatory elements)
Fixed: 26 elements
Prohibited: 183 elements

Structures

This structure refers to these other structures:

 

Other representations of profile: CSV, Excel, Schematron