Id2.16.840.1.113883.10.20.20.2.1.2Effective Date2013‑02‑01
Statusdraft DraftVersion Label
NameGeneticVariationAssociatedObservationDNAChangeDisplay NameGenetic Variation Associated Observation D N A Change
DescriptionThe GeneticVariationAssociatedObservationDNAChange template is a sub-template of GenomicAssociatedObservation and is used to carry the DNA change of that genetic variation.
ContextParent nodes of template element with id 2.16.840.1.113883.10.20.20.2.1.2
ClassificationCDA Entry Level Template
Open/ClosedOpen (other than defined elements are allowed)
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="2.16.840.1.113883.10.20.20.2.1.2"/>  <code code="48004-6" codeSystemName="LOINC" displayName="DNA Sequence Variation"/>  <value xsi:type="CD" code="109G>A" codeSystemName="HGVS nomenclature for the description of sequence variations"/></observation>
ItemDTCardConfDescriptionLabel
hl7:observation
Genedotsange
@classCode
cs0 … 1FOBS
@moodCode
cs0 … 1FEVN
 Constraint
SHALL satisfy: Either "DNA Change" observation or "Amino Acid Change" observation is required but both
may be specified.
hl7:templateId
II1 … 1MGenedotsange
@root
uid1 … 1F2.16.840.1.113883.10.20.20.2.1.2
hl7:code
CD1 … 1RCONFdotsR‑57
@code
CONF0 … 1F48004-6
@codeSystem
0 … 1F2.16.840.1.113883.6.1
@codeSystemName
0 … 1FLOINC
@displayName
0 … 1FDNA sequence variation
hl7:value
CD0 … 1RCONFdotsR‑58
 Constraint
MAY contain zero or one [0..1] value with data type CD (CONF-GTR-58), where the @code MAY be selected from (CodeSystem: Human Genome Variation Society (HGVS) Nomenclature)

  • Human Genome Variation Society (HGVS) Nomenclature standards for the description of sequence variations are maintained at: http://www.hgvs.org/mutnomen/recs.html#general.