Id2.16.840.1.113883.10.20.20.2.1.6Effective Date2013‑02‑01
Statusdraft DraftVersion Label
NameGeneticVariationAssociatedObservationTranscriptReferenceSequenceIdentifierDisplay NameGenetic Variation Associated Observation Transcript Reference Sequence Identifier
Description
The GeneticVariationAssociatedObservationTranscriptReferenceSequenceIdentifier template is a sub-template of GenomicAssociatedObservation and is used to carry the Transcript Reference Sequence Identifier IDs.
Notes: The NCI RefSeq transcripts IDs have a prefix of "NM" for genes from the nuclear chromosomes. NCBI does not currently provide a transcript RefSeq for mitochondrial genes. The LRG transcripts Identifiers have a prefix of "LRG_" plus a t extension. Mitochondrial genes are out of scope of LRG. For more information, see also report sponsored by GEN2PHEN and the European Bioinformatics Institute at Hinxton UK April 24-25, 2008.
ContextParent nodes of template element with id 2.16.840.1.113883.10.20.20.2.1.6
ClassificationCDA Entry Level Template
Open/ClosedOpen (other than defined elements are allowed)
Used by / Uses
Used by 0 transactions and 2 templates, Uses 0 templates
Used by as NameVersion
2.16.840.1.113883.2.6.60.13.10.3Containmentdraft Clinical Genomic Statement Genetische Variation2018‑08‑27 16:23:50
2.16.840.1.113883.10.20.20.2.1Containmentdraft Clinical Genomic Statement Genetic Variation2013‑02‑01
RelationshipSpecialization: template 2.16.840.1.113883.10.12.303 CDA Observation (2005‑09‑07)
ref
ad1bbr-

Specialization: template 2.16.840.1.113883.10.20.20.4 Genomic Associated Observation (DYNAMIC)
Example
Example
<observation classCode="OBS" moodCode="EVN">
  <templateId root="2.16.840.1.113883.10.20.20.2.1.6"/>  <code code="51958-7" codeSystemName="LOINC" displayName="Transcript Reference Sequence Identifier"/>  <value xsi:type="CD" code="NM_004004.5" codeSystem="REFSEQ" codeSystemName="NCBI Reference Sequence"/></observation>
ItemDTCardConfDescriptionLabel
hl7:observation
Genedotsfier
@classCode
cs0 … 1FOBS
@moodCode
cs0 … 1FEVN
hl7:templateId
II1 … 1MGenedotsfier
@root
uid1 … 1F2.16.840.1.113883.10.20.20.2.1.6
hl7:code
CD1 … 1RCONFdotsR‑57
@code
CONF0 … 1F51958-7
@codeSystem
0 … 1F2.16.840.1.113883.6.1
@codeSystemName
0 … 1FLOINC
@displayName
0 … 1FTranscript Reference Sequence Identifier
hl7:value
CD0 … 1RCONFdotsR‑58
 Constraint@code MAY be selected from (CodeSystem: NCBI RefSeq)
  • For this ID use either the NCBI nucleotide RefSeq IDs for transcribed DNA, plus the version number (NCBI.NLM.NIH.Gov/RefSeq), or use the LRG identifiers with transcript (t or p) extensions when they become available.