Guidance on how to interpret the contents of this table can be found here

0. Observation
2. Observation.status
Fixed Valuefinal
4. Observation.code
6. Observation.code.coding
8. Observation.code.coding.system
Fixed Valuehttp://loinc.org
10. Observation.code.coding.code
Fixed Value69548-6
12. Observation.subject
Control1..?
TypeReference(RareLink IPS Patient)
14. Observation.subject.reference
Must Supporttrue
16. Observation.subject.identifier
NoteThis is a business identifier, not a resource identifier (see discussion)
Must Supporttrue
18. Observation.method
20. Observation.method.coding
BindingUnless not suitable, these codes SHALL be taken from Structural Variant Method Value Set
(extensible to https://github.com/BIH-CEI/RareLink/ValueSet/structural-variant-method-vs)
22. Observation.component:genomicHgvs
Slice NamegenomicHgvs
Control0..1
24. Observation.component:genomicHgvs.code
26. Observation.component:genomicHgvs.code.coding
28. Observation.component:genomicHgvs.code.coding.system
Fixed Valuehttp://loinc.org
30. Observation.component:genomicHgvs.code.coding.code
Pattern Value81290-9
32. Observation.component:genomicHgvs.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
34. Observation.component:genomicHgvs.value[x].coding
36. Observation.component:genomicHgvs.value[x].coding.system
Fixed Valuehttp://varnomen.hgvs.org
38. Observation.component:genomicRefSeq
Slice NamegenomicRefSeq
Control0..1
40. Observation.component:genomicRefSeq.code
42. Observation.component:genomicRefSeq.code.coding
44. Observation.component:genomicRefSeq.code.coding.system
Fixed Valuehttp://loinc.org
46. Observation.component:genomicRefSeq.code.coding.code
Pattern Value48013-7
48. Observation.component:genomicRefSeq.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
50. Observation.component:representativeCodingHgvs
Slice NamerepresentativeCodingHgvs
Control0..1
52. Observation.component:representativeCodingHgvs.code
54. Observation.component:representativeCodingHgvs.code.coding
56. Observation.component:representativeCodingHgvs.code.coding.system
Fixed Valuehttp://loinc.org
58. Observation.component:representativeCodingHgvs.code.coding.code
Pattern Value48004-6
60. Observation.component:representativeCodingHgvs.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
62. Observation.component:representativeCodingHgvs.value[x].coding
64. Observation.component:representativeCodingHgvs.value[x].coding.system
Fixed Valuehttp://varnomen.hgvs.org
66. Observation.component:representativeTranscriptRefSeq
Slice NamerepresentativeTranscriptRefSeq
Control0..1
68. Observation.component:representativeTranscriptRefSeq.code
70. Observation.component:representativeTranscriptRefSeq.code.coding
72. Observation.component:representativeTranscriptRefSeq.code.coding.system
Fixed Valuehttp://loinc.org
74. Observation.component:representativeTranscriptRefSeq.code.coding.code
Pattern Value51958-7
76. Observation.component:representativeTranscriptRefSeq.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
78. Observation.component:representativeProteinHgvs
Slice NamerepresentativeProteinHgvs
Control0..1
80. Observation.component:representativeProteinHgvs.code
82. Observation.component:representativeProteinHgvs.code.coding
84. Observation.component:representativeProteinHgvs.code.coding.system
Fixed Valuehttp://loinc.org
86. Observation.component:representativeProteinHgvs.code.coding.code
Pattern Value48005-3
88. Observation.component:representativeProteinHgvs.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
90. Observation.component:representativeProteinHgvs.value[x].coding
92. Observation.component:representativeProteinHgvs.value[x].coding.system
Fixed Valuehttp://varnomen.hgvs.org
94. Observation.component:representativeProteinRefSeq
Slice NamerepresentativeProteinRefSeq
Control0..1
96. Observation.component:representativeProteinRefSeq.code
98. Observation.component:representativeProteinRefSeq.code.coding
100. Observation.component:representativeProteinRefSeq.code.coding.system
Fixed Valuehttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
102. Observation.component:representativeProteinRefSeq.code.coding.code
Pattern Valueprotein-ref-seq
104. Observation.component:representativeProteinRefSeq.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
106. Observation.component:referenceSequenceAssembly
Slice NamereferenceSequenceAssembly
Control0..1
108. Observation.component:referenceSequenceAssembly.code
110. Observation.component:referenceSequenceAssembly.code.coding
112. Observation.component:referenceSequenceAssembly.code.coding.system
Fixed Valuehttp://loinc.org
114. Observation.component:referenceSequenceAssembly.code.coding.code
Pattern Value62374-4
116. Observation.component:referenceSequenceAssembly.value[x]
BindingThe codes SHALL be taken from Reference Genome Value Set
(required to https://github.com/BIH-CEI/RareLink/ValueSet/reference-genome-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
118. Observation.component:geneStudied
Slice NamegeneStudied
Control0..1
120. Observation.component:geneStudied.code
122. Observation.component:geneStudied.code.coding
124. Observation.component:geneStudied.code.coding.system
Fixed Valuehttp://loinc.org
126. Observation.component:geneStudied.code.coding.code
Pattern Value48018-6
128. Observation.component:geneStudied.value[x]
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
130. Observation.component:geneStudied.value[x].coding
132. Observation.component:geneStudied.value[x].coding.system
Fixed Valuehttp://www.genenames.org
134. Observation.component:allelicState
Slice NameallelicState
Control0..1
136. Observation.component:allelicState.code
138. Observation.component:allelicState.code.coding
140. Observation.component:allelicState.code.coding.system
Fixed Valuehttp://loinc.org
142. Observation.component:allelicState.code.coding.code
Pattern Value53034-5
144. Observation.component:allelicState.value[x]
BindingUnless not suitable, these codes SHALL be taken from Zygosity Value Set
(extensible to https://github.com/BIH-CEI/RareLink/ValueSet/zygosity-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
146. Observation.component:genomicSourceClass
Slice NamegenomicSourceClass
Control0..1
148. Observation.component:genomicSourceClass.code
150. Observation.component:genomicSourceClass.code.coding
152. Observation.component:genomicSourceClass.code.coding.system
Fixed Valuehttp://loinc.org
154. Observation.component:genomicSourceClass.code.coding.code
Pattern Value48002-0
156. Observation.component:genomicSourceClass.value[x]
BindingThe codes SHALL be taken from Genomic Source Class Value Set
(required to https://github.com/BIH-CEI/RareLink/ValueSet/genomic-source-class-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
158. Observation.component:codingChangeType
Slice NamecodingChangeType
Control0..1
160. Observation.component:codingChangeType.code
162. Observation.component:codingChangeType.code.coding
164. Observation.component:codingChangeType.code.coding.system
Fixed Valuehttp://loinc.org
166. Observation.component:codingChangeType.code.coding.code
Pattern Value48019-4
168. Observation.component:codingChangeType.value[x]
BindingUnless not suitable, these codes SHALL be taken from DNA Change Type Value Set
(extensible to https://github.com/BIH-CEI/RareLink/ValueSet/dna-change-type-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]