R4
Ballot
#1
#2
(Mixed
Normative/Trial
use)
Diagnostics
This
page
is
part
of
the
FHIR
Specification
(v3.3.0:
(v3.5.0:
R4
Ballot
2).
#2).
The
current
version
which
supercedes
this
version
is
5.0.0
.
For
a
full
list
of
available
versions,
see
the
Directory
of
published
versions
.
Page
versions:
R4B
R4
| Orders and Observations Work Group | Maturity Level : 1 | Informative | Use Context : Any |
URL for this extension:
http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
Status: draft. Extension maintained by: Health Level Seven International (Clinical Genomics)
Allele information.
Context of Use: Use on Element ID Observation
usage info: insert a list of places where this extension is used
Summary
| Name | Flags | Card. | Type |
Description
&
Constraints
|
|---|---|---|---|---|
|
0..1 | Extension |
URL
=
http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
Allele: Allele information. Use on Element ID Observation |
|
Name
|
0..1 | CodeableConcept |
An
allele
is
one
of
a
set
of
coexisting
sequence
variants
of
a
gene
(
SO:0001023
).
This
element
is
the
common
name
for
the
allele.
LOINC
Code:
(
48008-7
).
|
|
|
State
|
0..1 | CodeableConcept |
The
level
of
occurrence
of
a
single
DNA
Sequence
Variant
within
a
set
of
chromosomes.
Heterozygous
indicates
the
DNA
sequence
variant
is
only
present
in
one
of
the
two
genes
contained
in
homologous
chromosomes.
Homozygous
indicates
the
DNA
Sequence
Variant
is
present
in
both
genes
contained
in
homologous
chromosomes.
Hemizygous
indicates
the
DNA
Sequence
Variant
exists
in
the
only
single
copy
of
a
gene
in
a
non-homologous
chromosome
(the
male
X
and
Y
chromosome
are
non-homologous).
Hemiplasmic
indicates
that
the
DNA
Sequence
Variant
is
present
in
some
but
not
all
of
the
copies
of
mitochondrial
DNA.
Homoplasmic
indicates
that
the
DNA
Sequence
Variant
is
present
in
all
of
the
copies
of
mitochondrial
DNA.
LOINC
Code:
(
53034-5
).
|
|
Frequency
|
0..1 | decimal |
A
physical
quality
which
inheres
to
the
allele
by
virtue
of
the
number
instances
of
the
allele
within
a
population.
LOINC
Code:
(
81258-6
).
|
|
|
Documentation
for
this
format
|
||||
Full Structure
| Name | Flags | Card. | Type |
Description
&
Constraints
|
|---|---|---|---|---|
|
extension
|
0..1 | Extension |
URL
=
http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
Allele: Allele information. Use on Element ID Observation |
|
|
extension
| 0..* | Extension |
Additional
content
defined
by
implementations
Slice: Unordered, Open by value:url | |
|
extension
|
0..1 | Extension |
Name
of
allele
|
|
extension
| 0..0 | |||
url
|
1..1 | uri | "Name" | |
valueCodeableConcept
|
0..1 | CodeableConcept |
Value
of
extension
Binding: |
|
|
extension
|
0..1 | Extension |
The
level
of
occurrence
of
a
single
DNA
sequence
variant
within
a
set
of
chromosomes:
Heteroplasmic
/
Homoplasmic
/
Homozygous
/
Heterozygous
/
Hemizygous
|
|
|
extension
| 0..0 | |||
|
url
|
1..1 | uri | "State" | |
|
valueCodeableConcept
|
0..1 | CodeableConcept | Value of extension | |
|
extension
|
0..1 | Extension |
Allele
frequency
|
|
|
extension
| 0..0 | |||
|
url
|
1..1 | uri | "Frequency" | |
|
valueDecimal
|
0..1 | decimal | Value of extension | |
|
url
|
1..1 | uri | "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele" | |
value[x]
|
0 .. 0 | |||
|
Documentation
for
this
format
|
||||
XML Template
<!-- Allele --><extension xmlns="http://hl7.org/fhir" url="http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele" > <-- extension sliced by value:url in the specified orderOpen--> <extension url="Name"> 0..1 Extension <!-- 0..1 Name of allele -->
<</valueCodeableConcept><valueCodeableConcept><!-- 0..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> <extension url="State"> 0..1 Extension <!-- 0..1 The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous --> <valueCodeableConcept><!-- 0..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> <extension url="Frequency"> 0..1 Extension <!-- 0..1 Allele frequency --> <valueDecimal value="[decimal]"/><!-- 0..1 Value of extension --> </extension> </extension>
JSON Template
{ // Allele
"extension" : [ // sliced by value:url in the specified order, Open
{ // Name of allele //
// from Element: extension
"extension" : [ // sliced by value:url in the specified order, Open ]
"url" : "Name", // R!
"
"valueCodeableConcept" : { CodeableConcept } //Value of extension
},
{ // The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous //
// from Element: extension
"extension" : [ // sliced by value:url in the specified order, Open ]
"url" : "State", // R!
"valueCodeableConcept" : { CodeableConcept } //Value of extension
},
{ // Allele frequency //
// from Element: extension
"extension" : [ // sliced by value:url in the specified order, Open ]
"url" : "Frequency", // R!
"valueDecimal" : <decimal> //Value of extension
}
],
"url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele", // R!
// value[x]: Value of extension. One of these 49:
}
Summary
| Name | Flags | Card. | Type |
Description
&
Constraints
|
|---|---|---|---|---|
|
|
0..1 | Extension |
URL
=
http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
Allele: Allele information. Use on Element ID Observation |
|
|
Name
|
0..1 | CodeableConcept |
An
allele
is
one
of
a
set
of
coexisting
sequence
variants
of
a
gene
(
SO:0001023
).
This
element
is
the
common
name
for
the
allele.
LOINC
Code:
(
48008-7
).
|
|
|
State
|
0..1 | CodeableConcept |
The
level
of
occurrence
of
a
single
DNA
Sequence
Variant
within
a
set
of
chromosomes.
Heterozygous
indicates
the
DNA
sequence
variant
is
only
present
in
one
of
the
two
genes
contained
in
homologous
chromosomes.
Homozygous
indicates
the
DNA
Sequence
Variant
is
present
in
both
genes
contained
in
homologous
chromosomes.
Hemizygous
indicates
the
DNA
Sequence
Variant
exists
in
the
only
single
copy
of
a
gene
in
a
non-homologous
chromosome
(the
male
X
and
Y
chromosome
are
non-homologous).
Hemiplasmic
indicates
that
the
DNA
Sequence
Variant
is
present
in
some
but
not
all
of
the
copies
of
mitochondrial
DNA.
Homoplasmic
indicates
that
the
DNA
Sequence
Variant
is
present
in
all
of
the
copies
of
mitochondrial
DNA.
LOINC
Code:
(
53034-5
).
|
|
|
Frequency
|
0..1 | decimal |
A
physical
quality
which
inheres
to
the
allele
by
virtue
of
the
number
instances
of
the
allele
within
a
population.
LOINC
Code:
(
81258-6
).
|
|
|
Documentation
for
this
format
|
||||
Full Structure
| Name | Flags | Card. | Type |
Description
&
Constraints
|
|---|---|---|---|---|
|
extension
|
0..1 | Extension |
URL
=
http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
Allele: Allele information. Use on Element ID Observation |
|
|
extension
| 0..* | Extension |
Additional
content
defined
by
implementations
Slice: Unordered, Open by value:url | |
|
extension
|
0..1 | Extension |
Name
of
allele
|
|
|
extension
| 0..0 | |||
|
url
|
1..1 | uri | "Name" | |
|
valueCodeableConcept
|
0..1 | CodeableConcept |
Value
of
extension
Binding: |
|
|
extension
|
0..1 | Extension |
The
level
of
occurrence
of
a
single
DNA
sequence
variant
within
a
set
of
chromosomes:
Heteroplasmic
/
Homoplasmic
/
Homozygous
/
Heterozygous
/
Hemizygous
|
|
|
extension
| 0..0 | |||
|
url
|
1..1 | uri | "State" | |
|
valueCodeableConcept
|
0..1 | CodeableConcept | Value of extension | |
|
extension
|
0..1 | Extension |
Allele
frequency
|
|
|
extension
| 0..0 | |||
|
url
|
1..1 | uri | "Frequency" | |
|
valueDecimal
|
0..1 | decimal | Value of extension | |
|
url
|
1..1 | uri | "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele" | |
|
value[x]
|
0 .. 0 | |||
|
Documentation
for
this
format
|
||||
XML Template
<!-- Allele --><</valueCodeableConcept><valueCodeableConcept><!-- 0..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> <extension url="State"> 0..1 Extension <!-- 0..1 The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous --> <valueCodeableConcept><!-- 0..1 CodeableConcept Value of extension --></valueCodeableConcept> </extension> <extension url="Frequency"> 0..1 Extension <!-- 0..1 Allele frequency --> <valueDecimal value="[decimal]"/><!-- 0..1 Value of extension --> </extension> </extension>
JSON Template
{ // Allele
"extension" : [ // sliced by value:url in the specified order, Open
{ // Name of allele //
// from Element: extension
"extension" : [ // sliced by value:url in the specified order, Open ]
"url" : "Name", // R!
"
"valueCodeableConcept" : { CodeableConcept } //Value of extension
},
{ // The level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous //
// from Element: extension
"extension" : [ // sliced by value:url in the specified order, Open ]
"url" : "State", // R!
"valueCodeableConcept" : { CodeableConcept } //Value of extension
},
{ // Allele frequency //
// from Element: extension
"extension" : [ // sliced by value:url in the specified order, Open ]
"url" : "Frequency", // R!
"valueDecimal" : <decimal> //Value of extension
}
],
"url" : "http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele", // R!
// value[x]: Value of extension. One of these 49:
}
Constraints
®©
HL7.org
2011+.
FHIR
Mixed
Nomative/Trial
Use
Ballot
(v3.3.0-13671)
#2
(v3.5.0-14907)
generated
on
Tue,
Apr
3,
Sun,
Aug
19,
2018
12:12+1000.
21:52+1000.
QA
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