Mappings for the Profile.
| Described Variant (Discrete or Structural) |
| Observation | |
| value[x] | B.21 |
| component | |
| component (gene-studied) | |
| value[x] | A.4 |
| component (chromosome-location) | |
| value[x] | B.17 |
| component (dna-region-name) | |
| value[x] | A.7 |
| component (dna-chg) | |
| value[x] | B.5 (includes A.13 in version) |
| component (dna-chg-type) | |
| value[x] | B.7 |
| component (variation-code) | |
| value[x] | B.2, B.16 (A.16 in coding.version) |
| component (dbSNP-id) | |
| value[x] | B.15 (includes A.14 in version) |
| component (genomic-dna-chg) | |
| value[x] | B.10 (includes A.13 in version) |
| component (genomic-source-class) | |
| value[x] | B.18 |
| component (amino-acid-chg) | |
| value[x] | B.6 (includes A.13 in version) |
| component (amino-acid-chg-type) | |
| value[x] | B.8 |
| component (transcript-ref-seq) | |
| value[x] | B.4 |
| component (genomic-ref-seq) | |
| value[x] | B.9 |
| component (allelic-frequency) | |
| value[x] | B.22, C.4 |
| component (allelic-phase) | |
| value[x] | B.26 |
| component (allelic-phase-basis) | |
| value[x] | B.27, C.7 |
| component (allelic-read-depth) | |
| valueQuantity | B.27, C.7 |
| component (allelic-state) | |
| value[x] | B.23, C.6 |
| component (copy-number) | |
| valueQuantity | B.28 |
| component (arrCGH-ratio) | |
| valueQuantity | B.29 |
| component (ref-allele) | B.9 |
| component (alt-allele) | B.11 |
| component (coordinate-system) | |
| component (allele-start-end) | B.10 |
| component (variant-length) | |
| valueQuantity | B.30 |
| component (outer-start-end) | |
| value[x] | B.31 |
| component (inner-start-end) | |
| value[x] | B.32 |
| Described Variant (Discrete or Structural) |
| Observation | < 363787002 |Observable entity| |
| status | < 445584004 |Report by finality status| |
| code | < 363787002 |Observable entity| OR < 386053000 |Evaluation procedure| |
| value[x] | < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| bodySite | < 123037004 |Body structure| |
| specimen | < 123038009 |Specimen| |
| device | < 49062001 |Device| |
| referenceRange | |
| type | < 260245000 |Findings values| OR
< 365860008 |General clinical state finding|
OR
< 250171008 |Clinical history or observation findings| OR
< 415229000 |Racial group| OR
< 365400002 |Finding of puberty stage| OR
< 443938003 |Procedure carried out on subject| |
| appliesTo | < 260245000 |Findings values| OR
< 365860008 |General clinical state finding|
OR
< 250171008 |Clinical history or observation findings| OR
< 415229000 |Racial group| OR
< 365400002 |Finding of puberty stage| OR
< 443938003 |Procedure carried out on subject| |
| component | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (gene-studied) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (chromosome-location) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (dna-region-name) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (dna-chg) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (dna-chg-type) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (variation-code) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (dbSNP-id) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (genomic-dna-chg) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (genomic-source-class) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (amino-acid-chg) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (amino-acid-chg-type) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (transcript-ref-seq) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (genomic-ref-seq) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (allelic-frequency) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (allelic-phase) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (allelic-phase-basis) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (allelic-read-depth) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| interpretation | < 260245000 |Findings values| |
| component (allelic-state) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (copy-number) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| interpretation | < 260245000 |Findings values| |
| component (arrCGH-ratio) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| interpretation | < 260245000 |Findings values| |
| component (ref-allele) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (alt-allele) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (coordinate-system) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (allele-start-end) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (variant-length) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| interpretation | < 260245000 |Findings values| |
| component (outer-start-end) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| component (inner-start-end) | |
| code | < 363787002 |Observable entity| OR
< 386053000 |Evaluation procedure| |
| value[x] | 363714003 |Interprets| < 441742003 |Evaluation finding| |
| interpretation | < 260245000 |Findings values| |
| Described Variant (Discrete or Structural) |
| Observation | OBX |
| identifier | OBX.21 For OBX segments from systems without OBX-21 support a combination of ORC/OBR and OBX must be negotiated between trading partners to uniquely identify the OBX segment. Depending on how V2 has been implemented each of these may be an option: 1) OBR-3 + OBX-3 + OBX-4 or 2) OBR-3 + OBR-4 + OBX-3 + OBX-4 or 2) some other way to uniquely ID the OBR/ORC + OBX-3 + OBX-4. |
| basedOn | ORC |
| partOf | Varies by domain |
| status | OBX-11 |
| code | OBX-3 |
| subject | PID-3 |
| focus | OBX-3 |
| context | PV1 |
| effective[x] | OBX-14, and/or OBX-19 after v2.4 (depends on who observation made) |
| issued | OBR.22 (or MSH.7), or perhaps OBX-19 (depends on who observation made) |
| performer | OBX.15 / (Practitioner) OBX-16, PRT-5:PRT-4='RO' / (Device) OBX-18 , PRT-10:PRT-4='EQUIP' / (Organization) OBX-23, PRT-8:PRT-4='PO' |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| comment | NTE.3 (partner NTE to OBX, or sometimes another (child?) OBX) |
| bodySite | OBX-20 |
| method | OBX-17 |
| specimen | SPM segment |
| device | OBX-17 / PRT -10 |
| referenceRange | OBX.7 |
| low | OBX-7 |
| high | OBX-7 |
| type | OBX-10 |
| appliesTo | OBX-10 |
| text | OBX-7 |
| hasMember | Relationships established by OBX-4 usage |
| derivedFrom | Relationships established by OBX-4 usage |
| derivedFrom (sequence) | Relationships established by OBX-4 usage |
| component | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (gene-studied) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (chromosome-location) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (dna-region-name) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (dna-chg) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (dna-chg-type) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (variation-code) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (dbSNP-id) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (genomic-dna-chg) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (genomic-source-class) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (amino-acid-chg) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (amino-acid-chg-type) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (transcript-ref-seq) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (genomic-ref-seq) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (allelic-frequency) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| value | SN.2 / CQ - N/A |
| comparator | SN.1 / CQ.1 |
| unit | (see OBX.6 etc.) / CQ.2 |
| system | (see OBX.6 etc.) / CQ.2 |
| code | (see OBX.6 etc.) / CQ.2 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (allelic-phase) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (allelic-phase-basis) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (allelic-read-depth) | containment by OBX-4? |
| code | OBX-3 |
| valueQuantity | SN (see also Range) or CQ |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (allelic-state) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (copy-number) | containment by OBX-4? |
| code | OBX-3 |
| valueQuantity | SN (see also Range) or CQ |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (arrCGH-ratio) | containment by OBX-4? |
| code | OBX-3 |
| valueQuantity | SN (see also Range) or CQ |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (ref-allele) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (alt-allele) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (coordinate-system) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (allele-start-end) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| low | NR.1 |
| high | NR.2 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (variant-length) | containment by OBX-4? |
| code | OBX-3 |
| valueQuantity | SN (see also Range) or CQ |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (outer-start-end) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| low | NR.1 |
| high | NR.2 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| component (inner-start-end) | containment by OBX-4? |
| code | OBX-3 |
| value[x] | OBX.2, OBX.5, OBX.6 |
| low | NR.1 |
| high | NR.2 |
| dataAbsentReason | N/A |
| interpretation | OBX-8 |
| referenceRange | OBX.7 |
| Described Variant (Discrete or Structural) |
| Observation | Entity. Role, or Act |
| text | Act.text? |
| contained | N/A |
| modifierExtension | N/A |
| identifier | id |
| basedOn | .inboundRelationship[typeCode=COMP].source[moodCode=EVN] |
| partOf | .outboundRelationship[typeCode=FLFS].target |
| status | status Amended & Final are differentiated by whether it is the subject of a ControlAct event with a type of "revise" |
| category | .outboundRelationship[typeCode="COMP].target[classCode="LIST", moodCode="EVN"].code |
| code | code |
| subject | participation[typeCode=RTGT] |
| focus | participation[typeCode=SBJ] |
| context | inboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN] |
| effective[x] | effectiveTime |
| issued | participation[typeCode=AUT].time |
| performer | participation[typeCode=PRF] |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| comment | subjectOf.observationEvent[code="annotation"].value |
| bodySite | targetSiteCode |
| method | methodCode |
| specimen | participation[typeCode=SPC].specimen |
| device | participation[typeCode=DEV] |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| low | value:IVL_PQ.low |
| high | value:IVL_PQ.high |
| type | interpretationCode |
| appliesTo | interpretationCode |
| age | outboundRelationship[typeCode=PRCN].targetObservationCriterion[code="age"].value |
| text | value:ST |
| hasMember | outBoundRelationship |
| derivedFrom | .targetObservation |
| derivedFrom (sequence) | .targetObservation |
| component | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (gene-studied) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (chromosome-location) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (dna-region-name) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (dna-chg) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (dna-chg-type) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (variation-code) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (dbSNP-id) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (genomic-dna-chg) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (genomic-source-class) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (amino-acid-chg) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (amino-acid-chg-type) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (transcript-ref-seq) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (genomic-ref-seq) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (allelic-frequency) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| id | n/a |
| extension | n/a |
| value | PQ.value, CO.value, MO.value, IVL.high or IVL.low depending on the value |
| comparator | IVL properties |
| unit | PQ.unit |
| system | CO.codeSystem, PQ.translation.codeSystem |
| code | PQ.code, MO.currency, PQ.translation.code |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (allelic-phase) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (allelic-phase-basis) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (allelic-read-depth) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| valueQuantity | PQ, IVL<PQ>, MO, CO, depending on the values |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (allelic-state) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (copy-number) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| valueQuantity | PQ, IVL<PQ>, MO, CO, depending on the values |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (arrCGH-ratio) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| valueQuantity | n/a |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (ref-allele) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (alt-allele) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (coordinate-system) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (allele-start-end) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| id | n/a |
| extension | n/a |
| low | ./low |
| high | ./high |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (variant-length) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| valueQuantity | PQ, IVL<PQ>, MO, CO, depending on the values |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (outer-start-end) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| id | n/a |
| extension | n/a |
| low | ./low |
| high | ./high |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| component (inner-start-end) | outBoundRelationship[typeCode=COMP] |
| id | n/a |
| extension | n/a |
| modifierExtension | N/A |
| code | code |
| value[x] | value |
| id | n/a |
| extension | n/a |
| low | ./low |
| high | ./high |
| dataAbsentReason | value.nullFlavor |
| interpretation | interpretationCode |
| referenceRange | outboundRelationship[typeCode=REFV]/target[classCode=OBS, moodCode=EVN] |
| Described Variant (Discrete or Structural) |
| Observation | |
| code | 116680003 |Is a| |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| bodySite | 718497002 |Inherent location| |
| specimen | 704319004 |Inherent in| |
| device | 424226004 |Using device| |
| component | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (gene-studied) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (chromosome-location) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (dna-region-name) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (dna-chg) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (dna-chg-type) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (variation-code) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (dbSNP-id) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (genomic-dna-chg) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (genomic-source-class) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (amino-acid-chg) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (amino-acid-chg-type) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (transcript-ref-seq) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (genomic-ref-seq) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (allelic-frequency) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (allelic-phase) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (allelic-phase-basis) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (allelic-read-depth) | |
| interpretation | 363713009 |Has interpretation| |
| component (allelic-state) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (copy-number) | |
| interpretation | 363713009 |Has interpretation| |
| component (arrCGH-ratio) | |
| interpretation | 363713009 |Has interpretation| |
| component (ref-allele) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (alt-allele) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (coordinate-system) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (allele-start-end) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (variant-length) | |
| interpretation | 363713009 |Has interpretation| |
| component (outer-start-end) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
| component (inner-start-end) | |
| value[x] | 363714003 |Interprets| |
| interpretation | 363713009 |Has interpretation| |
|
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