Diagnostics
This
page
is
part
of
the
FHIR
Specification
(v5.0.0:
R5
-
STU
v6.0.0-ballot1:
Release
6
Ballot
(1st
Draft)
(see
Ballot
Notes
).
This
is
the
The
current
published
version
in
it's
permanent
home
(it
will
always
be
available
at
this
URL).
is
5.0.0
.
For
a
full
list
of
available
versions,
see
the
Directory
of
published
versions
| Clinical Genomics Work Group | Maturity Level : N/A | Standards Status : Informative | Compartments : Patient |
Raw JSON ( canonical form + also see JSON Format Specification )
MolecularSequence example for long fusion RNA molecule of FGFR and MET
{
"resourceType" : "MolecularSequence",
"id" : "seq-ordinal",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"seq-ordinal\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource MolecularSequence "seq-ordinal" </p></div><p><b>type</b>: rna</p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 1</p><p><b>sequenceRange</b>: 1-2194</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>NM_000141.5 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000141.5)</span></td><td>1</td><td>2194</td></tr></table></blockquote><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 2</p><p><b>sequenceRange</b>: 2194-4899</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td>-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>NM_000245.4 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000245.4)</span></td><td>1923</td><td>6822</td></tr></table></blockquote></div>"
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: MolecularSequence</b><a name=\"seq-ordinal\"> </a></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource MolecularSequence "seq-ordinal" </p></div><p><b>type</b>: rna</p><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 1</p><p><b>sequenceRange</b>: 1-2194</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>NM_000141.5 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000141.5)</span></td><td>1</td><td>2194</td></tr></table></blockquote><blockquote><p><b>relative</b></p><p><b>coordinateSystem</b>: 1-based character counting <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30102-0)</span></p><p><b>ordinalPosition</b>: 2</p><p><b>sequenceRange</b>: 2194-4899</p><h3>StartingSequences</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Sequence[x]</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td style=\"display: none\">*</td><td>NM_000245.4 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (#NM_000245.4)</span></td><td>1923</td><td>6822</td></tr></table></blockquote></div>"
},
"type" : "rna",
"relative" : [{
"coordinateSystem" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30102-0",
"display" : "1-based character counting"
}]
},
"ordinalPosition" : 1,
"sequenceRange" : {
"low" : {
"value" : 1
},
"high" : {
"value" : 2194
}
},
"startingSequence" : {
"sequenceCodeableConcept" : {
"coding" : [{
"system" : "http://www.ncbi.nlm.nih.gov/nuccore/",
"code" : "NM_000141.5"
}]
},
"windowStart" : 1,
"windowEnd" : 2194
}
},
{
"coordinateSystem" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30102-0",
"display" : "1-based character counting"
}]
},
"ordinalPosition" : 2,
"sequenceRange" : {
"low" : {
"value" : 2194
},
"high" : {
"value" : 4899
}
},
"startingSequence" : {
"sequenceCodeableConcept" : {
"coding" : [{
"system" : "http://www.ncbi.nlm.nih.gov/nuccore/",
"code" : "NM_000245.4"
}]
},
"windowStart" : 1923,
"windowEnd" : 6822
}
}]
}
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.
FHIR
®©
HL7.org
2011+.
FHIR
R5
hl7.fhir.core#5.0.0
R6
hl7.fhir.core#6.0.0-ballot1
generated
on
Sun,
Mar
26,
Mon,
Dec
18,
2023
15:25+1100.
15:17+1100.
Links:
Search
|
Version
History
|
Contents
|
Glossary
|
QA
|
Compare
to
R4
|
Compare
to
R4B
R5
|
|
Propose
a
change