1+ {
2+ "resourceType" : " GraphDefinition" ,
3+ "id" : " GraphDefinition-Genomics-Test-Result" ,
4+ "url" : " https://fhir.nhs.uk/GraphDefinition/genomics-test-result" ,
5+ "name" : " GenomicsTestResult" ,
6+ "status" : " draft" ,
7+ "date" : " 2024-08-09" ,
8+ "publisher" : " NHS England" ,
9+ "description" : " GraphDefinition for defining and retrieving the full set of resources relevant to a Genomic Test Result (based on the Genomics Reporting Genomic-Report profile)" ,
10+ "start" : " DiagnosticReport" ,
11+ "link" : [
12+ {
13+ "path" : " DiagnosticReport.extension.valueReference" ,
14+ "sliceName" : " recommended-action" ,
15+ "description" : " Further actions recommended by the report" ,
16+ "min" : 0 ,
17+ "max" : " *" ,
18+ "target" : [
19+ {
20+ "type" : " Task"
21+ }
22+ ]
23+ },
24+ {
25+ "path" : " DiagnosticReport.extension.valueReference" ,
26+ "sliceName" : " genomic-study" ,
27+ "description" : " The set of analyses performed to generate/analyse the genomic data" ,
28+ "min" : 0 ,
29+ "max" : " *" ,
30+ "target" : [
31+ {
32+ "type" : " Procedure" ,
33+ "link" : [
34+ {
35+ "path" : " Procedure.extension.valueReference" ,
36+ "sliceName" : " genomic-study-analysis" ,
37+ "description" : " Component of genomic study" ,
38+ "min" : 0 ,
39+ "max" : " *" ,
40+ "target" : [
41+ {
42+ "type" : " Procedure"
43+ }
44+ ]
45+ }
46+ ]
47+ }
48+ ]
49+ },
50+ {
51+ "path" : " DiagnosticReport.extension.valueReference" ,
52+ "sliceName" : " supporting-info" ,
53+ "description" : " Supporting Info references, used to capture clinical information and references to Genomic Data Files" ,
54+ "min" : 0 ,
55+ "max" : " *" ,
56+ "target" : [
57+ {
58+ "type" : " DocumentReference"
59+ },
60+ {
61+ "type" : " Resource"
62+ }
63+ ]
64+ },
65+ {
66+ "path" : " DiagnosticReport.basedOn" ,
67+ "description" : " Link to request this DiagnosticReport is in fulfillment of" ,
68+ "min" : 1 ,
69+ "max" : 1 ,
70+ "target" : [
71+ {
72+ "type" : " ServiceRequest"
73+ }
74+ ]
75+ },
76+ {
77+ "path" : " DiagnosticReport.subject" ,
78+ "description" : " Link to the patient the report is concerning" ,
79+ "min" : 1 ,
80+ "max" : 1 ,
81+ "target" : [
82+ {
83+ "type" : " Patient" ,
84+ }
85+ ]
86+ },
87+ {
88+ "path" : " DiagnosticReport.specimen" ,
89+ "description" : " Link to the specimens used during testing to generate the report" ,
90+ "min" : 0 ,
91+ "max" : " *" ,
92+ "target" : [
93+ {
94+ "type" : " Specimen" ,
95+ "link" : [
96+ {
97+ "path" : " Specimen.subject" ,
98+ "description" : " Link to the patient the specimen is from" ,
99+ "min" : 1 ,
100+ "max" : 1 ,
101+ "target" : [
102+ {
103+ "type" : " Patient"
104+ }
105+ ]
106+ },
107+ {
108+ "path" : " Specimen.parent" ,
109+ "description" : " Link to parent specimen resource" ,
110+ "min" : 0 ,
111+ "max" : 1 ,
112+ "target" : [
113+ {
114+ "type" : " Specimen"
115+ }
116+ ]
117+ },
118+ {
119+ "path" : " Specimen.collection.collector" ,
120+ "description" : " Link to collector of the specimen" ,
121+ "min" : 0 ,
122+ "max" : 1 ,
123+ "target" : [
124+ {
125+ "type" : " PractitionerRole"
126+ }
127+ ]
128+ },
129+ {
130+ "path" : " Specimen.collection.bodySite.extension.valueReference" ,
131+ "sliceName" : " bodySiteReference" ,
132+ "description" : " Link to the body structure detailing the morphology and topography of the specimen" ,
133+ "min" : 0 ,
134+ "max" : 1 ,
135+ "target" : [
136+ {
137+ "type" : " BodyStructure"
138+ }
139+ ]
140+ }
141+ ]
142+ }
143+ ]
144+ },
145+ {
146+ "path" : " DiagnosticReport.result" ,
147+ "description" : " Links to Observations forming the results reported in the DiagnosticReport" ,
148+ "min" : 0 ,
149+ "max" : " *" ,
150+ "target" : [
151+ {
152+ "type" : " Observation" ,
153+ "link" : [
154+ {
155+ "path" : " Observation.performer" ,
156+ "description" : " Optional link to actor who performed the observation (could be Patient, PractitionerRole or RelatedPerson)" ,
157+ "min" : 0 ,
158+ "max" : 1 ,
159+ "target" : [
160+ {
161+ "type" : " Resource"
162+ }
163+ ]
164+ },
165+ {
166+ "path" : " Observation.hasMember" ,
167+ "description" : " Optional link to observation if parent observation is a panel" ,
168+ "min" : 0 ,
169+ "max" : " *" ,
170+ "target" : [
171+ {
172+ "type" : " Observation"
173+ }
174+ ]
175+ }
176+ ]
177+ }
178+ ]
179+ }
180+ ]
181+ }
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