Profile Name
Category
Code
Time Types
Value Types
Method
rarelink-diagnostic-implication
laboratory
,
GE
diagnostic-implication
,
diagnostic-implication
(all)
conclusion-string
conclusion-string
string
evidence-level
93044-6
CodeableConcept
clinical-significance
53037-8
CodeableConcept
predicted-phenotype
81259-4
CodeableConcept
mode-of-inheritance
condition-inheritance
CodeableConcept
evidenceLevel
CodeableConcept
93044-6
clinicalSignificance
CodeableConcept
53037-8
predictedPhenotype
CodeableConcept
81259-4
rarelink-genetic-variant
laboratory
,
GE
69548-6
,
69548-6
(all)
(all)
conclusion-string
conclusion-string
string
gene-studied
48018-6
CodeableConcept
cytogenetic-location
48001-2
CodeableConcept
reference-sequence-assembly
62374-4
CodeableConcept
chromosome-identifier
48000-4
CodeableConcept
representative-coding-hgvs
48004-6
CodeableConcept
genomic-hgvs
81290-9
CodeableConcept
cytogenomic-nomenclature
81291-7
CodeableConcept
genomic-ref-seq
48013-7
CodeableConcept
representative-protein-ref-seq
protein-ref-seq
CodeableConcept
representative-transcript-ref-seq
51958-7
CodeableConcept
exact-start-end
81254-5
Range
inner-start-end
81302-2
Range
outer-start-end
81301-4
Range
coordinate-system
92822-6
CodeableConcept
ref-allele
69547-8
string
alt-allele
69551-0
string
coding-change-type
48019-4
CodeableConcept
genomic-source-class
48002-0
CodeableConcept
sample-allelic-frequency
81258-6
Quantity
allelic-read-depth
82121-5
Quantity
allelic-state
53034-5
CodeableConcept
variant-inheritance
94186-4
CodeableConcept
variant-inheritance-basis
82309-6
CodeableConcept
variation-code
81252-9
CodeableConcept
representative-protein-hgvs
48005-3
CodeableConcept
copy-number
82155-3
Quantity
|
Range
variant-confidence-status
variant-confidence-status
CodeableConcept
repeat-motif
repeat-motif
string
repeat-number
repeat-number
Quantity
genomicHgvs
CodeableConcept
81290-9
genomicRefSeq
CodeableConcept
48013-7
representativeCodingHgvs
CodeableConcept
48004-6
representativeTranscriptRefSeq
CodeableConcept
51958-7
representativeProteinHgvs
CodeableConcept
48005-3
representativeProteinRefSeq
CodeableConcept
protein-ref-seq
referenceSequenceAssembly
CodeableConcept
62374-4
geneStudied
CodeableConcept
48018-6
allelicState
CodeableConcept
53034-5
genomicSourceClass
CodeableConcept
48002-0
codingChangeType
CodeableConcept
48019-4
rarelink-ips-measurement-laboratory
imaging
preferred
VS
Results Radiology Observation - IPS
S
dateTime
|
Period
(all)
observationText
string
observationCode
CodeableConcept
numericQuantityMeasurement
Quantity
numericRangeMeasurement
Range
numericRatioMeasurement
Ratio
numericSampledDataMeasurement
SampledData
rarelink-ips-measurement-radiology
imaging
,
imaging
preferred
VS
Results Radiology Observation - IPS
S
dateTime
|
Period
(all)
observationText
string
observationCode
CodeableConcept
numericQuantityMeasurement
Quantity
numericRangeMeasurement
Range
numericRatioMeasurement
Ratio
numericSampledDataMeasurement
SampledData
rarelink-karyotypic-sex
1296886006
(all)
CodeableConcept
rarelink-observation-age-category
105727008
(all)
(all)
rarelink-observation-gestation-at-birth
412726003
(all)
(all)
length_of_gestation_in_weeks
Quantity
412726003
length_of_gestation_in_days
Quantity
412726003
rarelink-observation-measurements-others
example
VS
LOINC Codes
(all)
(all)
rarelink-observation-vital-signs
vital-signs
required
VS
Vital Signs
(all)
(all)