VariantOccurrence logical model - Definitions - PROTECT-CHILD Pediatric Transplant Data Implementation Guide v0.1.0-ci-build

PROTECT-CHILD Pediatric Transplant Data Implementation Guide

0.1.0-ci-build -

PROTECT-CHILD Pediatric Transplant Data Implementation Guide
0.1.0-ci-build - ci-build

PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions

Logical Model: PcVariantOccurrence - Detailed Descriptions

Draft as of 2026-02-09

Definitions for the pc-variant-occurrence-lm logical model.

Key Elements Table
Differential Elements Table
Snapshot Elements Table

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

0. pc-variant-occurrence-lm
Definition	Logical model representing the PROTECT-CHILD data model entity `variant_occurrence`.
Short	VariantOccurrence logical model
Control	0..*
Is Modifier	false
Logical Model	Instances of this logical model are not marked to be the target of a Reference
2. pc-variant-occurrence-lm.variantOccurrenceId
Definition	Field `variant_occurrence_id` from the PROTECT-CHILD data model.
Short	Variant occurrence id
Control	1..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
4. pc-variant-occurrence-lm.targetRegionId
Definition	Field `target_region_id` from the PROTECT-CHILD data model. Foreign key to `target_region`.
Short	Target region id
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
6. pc-variant-occurrence-lm.referenceSequence
Definition	Field `reference_sequence` from the PROTECT-CHILD data model.
Short	Reference sequence
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
8. pc-variant-occurrence-lm.rsId
Definition	Field `rs_id` from the PROTECT-CHILD data model.
Short	Rs id
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
10. pc-variant-occurrence-lm.referenceAllele
Definition	Field `reference_allele` from the PROTECT-CHILD data model.
Short	Reference allele
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
12. pc-variant-occurrence-lm.alternateAllele
Definition	Field `alternate_allele` from the PROTECT-CHILD data model.
Short	Alternate allele
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
14. pc-variant-occurrence-lm.hgvsC
Definition	Field `hgvs_c` from the PROTECT-CHILD data model.
Short	Hgvs c
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
16. pc-variant-occurrence-lm.hgvsP
Definition	Field `hgvs_p` from the PROTECT-CHILD data model.
Short	Hgvs p
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
18. pc-variant-occurrence-lm.variantReadDepth
Definition	Field `variant_read_depth` from the PROTECT-CHILD data model.
Short	Variant read depth
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
20. pc-variant-occurrence-lm.variantExonNumber
Definition	Field `variant_exon_number` from the PROTECT-CHILD data model.
Short	Variant exon number
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
22. pc-variant-occurrence-lm.copyNumber
Definition	Field `copy_number` from the PROTECT-CHILD data model.
Short	Copy number
Control	0..1
Type	decimal
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
24. pc-variant-occurrence-lm.cnvLocus
Definition	Field `cnv_locus` from the PROTECT-CHILD data model.
Short	Cnv locus
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
26. pc-variant-occurrence-lm.fusionBreakpoint
Definition	Field `fusion_breakpoint` from the PROTECT-CHILD data model.
Short	Fusion breakpoint
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
28. pc-variant-occurrence-lm.fusionSupportingReads
Definition	Field `fusion_supporting_reads` from the PROTECT-CHILD data model.
Short	Fusion supporting reads
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
30. pc-variant-occurrence-lm.sequenceAlteration
Definition	Field `sequence_alteration` from the PROTECT-CHILD data model.
Short	Sequence alteration
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
32. pc-variant-occurrence-lm.variantFeature
Definition	Field `variant_feature` from the PROTECT-CHILD data model.
Short	Variant feature
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
34. pc-variant-occurrence-lm.geneticOrigin
Definition	Field `genetic_origin` from the PROTECT-CHILD data model.
Short	Genetic origin
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
36. pc-variant-occurrence-lm.genotype
Definition	Field `genotype` from the PROTECT-CHILD data model.
Short	Genotype
Control	0..1
Type	CodeableConcept

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

0. pc-variant-occurrence-lm
Definition	Logical model representing the PROTECT-CHILD data model entity `variant_occurrence`.
Short	VariantOccurrence logical model
Logical Model	Instances of this logical model are not marked to be the target of a Reference
2. pc-variant-occurrence-lm.variantOccurrenceId
Definition	Field `variant_occurrence_id` from the PROTECT-CHILD data model.
Short	Variant occurrence id
Control	1..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
4. pc-variant-occurrence-lm.targetRegionId
Definition	Field `target_region_id` from the PROTECT-CHILD data model. Foreign key to `target_region`.
Short	Target region id
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
6. pc-variant-occurrence-lm.referenceSequence
Definition	Field `reference_sequence` from the PROTECT-CHILD data model.
Short	Reference sequence
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
8. pc-variant-occurrence-lm.rsId
Definition	Field `rs_id` from the PROTECT-CHILD data model.
Short	Rs id
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
10. pc-variant-occurrence-lm.referenceAllele
Definition	Field `reference_allele` from the PROTECT-CHILD data model.
Short	Reference allele
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
12. pc-variant-occurrence-lm.alternateAllele
Definition	Field `alternate_allele` from the PROTECT-CHILD data model.
Short	Alternate allele
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
14. pc-variant-occurrence-lm.hgvsC
Definition	Field `hgvs_c` from the PROTECT-CHILD data model.
Short	Hgvs c
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
16. pc-variant-occurrence-lm.hgvsP
Definition	Field `hgvs_p` from the PROTECT-CHILD data model.
Short	Hgvs p
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
18. pc-variant-occurrence-lm.variantReadDepth
Definition	Field `variant_read_depth` from the PROTECT-CHILD data model.
Short	Variant read depth
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
20. pc-variant-occurrence-lm.variantExonNumber
Definition	Field `variant_exon_number` from the PROTECT-CHILD data model.
Short	Variant exon number
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
22. pc-variant-occurrence-lm.copyNumber
Definition	Field `copy_number` from the PROTECT-CHILD data model.
Short	Copy number
Control	0..1
Type	decimal
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
24. pc-variant-occurrence-lm.cnvLocus
Definition	Field `cnv_locus` from the PROTECT-CHILD data model.
Short	Cnv locus
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
26. pc-variant-occurrence-lm.fusionBreakpoint
Definition	Field `fusion_breakpoint` from the PROTECT-CHILD data model.
Short	Fusion breakpoint
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
28. pc-variant-occurrence-lm.fusionSupportingReads
Definition	Field `fusion_supporting_reads` from the PROTECT-CHILD data model.
Short	Fusion supporting reads
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
30. pc-variant-occurrence-lm.sequenceAlteration
Definition	Field `sequence_alteration` from the PROTECT-CHILD data model.
Short	Sequence alteration
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
32. pc-variant-occurrence-lm.variantFeature
Definition	Field `variant_feature` from the PROTECT-CHILD data model.
Short	Variant feature
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
34. pc-variant-occurrence-lm.geneticOrigin
Definition	Field `genetic_origin` from the PROTECT-CHILD data model.
Short	Genetic origin
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
36. pc-variant-occurrence-lm.genotype
Definition	Field `genotype` from the PROTECT-CHILD data model.
Short	Genotype
Control	0..1
Type	CodeableConcept

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

0. pc-variant-occurrence-lm
Definition	Logical model representing the PROTECT-CHILD data model entity `variant_occurrence`.
Short	VariantOccurrence logical model
Control	0..*
Is Modifier	false
Logical Model	Instances of this logical model are not marked to be the target of a Reference
2. pc-variant-occurrence-lm.variantOccurrenceId
Definition	Field `variant_occurrence_id` from the PROTECT-CHILD data model.
Short	Variant occurrence id
Control	1..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
4. pc-variant-occurrence-lm.targetRegionId
Definition	Field `target_region_id` from the PROTECT-CHILD data model. Foreign key to `target_region`.
Short	Target region id
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
6. pc-variant-occurrence-lm.referenceSequence
Definition	Field `reference_sequence` from the PROTECT-CHILD data model.
Short	Reference sequence
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
8. pc-variant-occurrence-lm.rsId
Definition	Field `rs_id` from the PROTECT-CHILD data model.
Short	Rs id
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
10. pc-variant-occurrence-lm.referenceAllele
Definition	Field `reference_allele` from the PROTECT-CHILD data model.
Short	Reference allele
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
12. pc-variant-occurrence-lm.alternateAllele
Definition	Field `alternate_allele` from the PROTECT-CHILD data model.
Short	Alternate allele
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
14. pc-variant-occurrence-lm.hgvsC
Definition	Field `hgvs_c` from the PROTECT-CHILD data model.
Short	Hgvs c
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
16. pc-variant-occurrence-lm.hgvsP
Definition	Field `hgvs_p` from the PROTECT-CHILD data model.
Short	Hgvs p
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
18. pc-variant-occurrence-lm.variantReadDepth
Definition	Field `variant_read_depth` from the PROTECT-CHILD data model.
Short	Variant read depth
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
20. pc-variant-occurrence-lm.variantExonNumber
Definition	Field `variant_exon_number` from the PROTECT-CHILD data model.
Short	Variant exon number
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
22. pc-variant-occurrence-lm.copyNumber
Definition	Field `copy_number` from the PROTECT-CHILD data model.
Short	Copy number
Control	0..1
Type	decimal
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
24. pc-variant-occurrence-lm.cnvLocus
Definition	Field `cnv_locus` from the PROTECT-CHILD data model.
Short	Cnv locus
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
26. pc-variant-occurrence-lm.fusionBreakpoint
Definition	Field `fusion_breakpoint` from the PROTECT-CHILD data model.
Short	Fusion breakpoint
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
28. pc-variant-occurrence-lm.fusionSupportingReads
Definition	Field `fusion_supporting_reads` from the PROTECT-CHILD data model.
Short	Fusion supporting reads
Control	0..1
Type	integer
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
30. pc-variant-occurrence-lm.sequenceAlteration
Definition	Field `sequence_alteration` from the PROTECT-CHILD data model.
Short	Sequence alteration
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
32. pc-variant-occurrence-lm.variantFeature
Definition	Field `variant_feature` from the PROTECT-CHILD data model.
Short	Variant feature
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
34. pc-variant-occurrence-lm.geneticOrigin
Definition	Field `genetic_origin` from the PROTECT-CHILD data model.
Short	Genetic origin
Control	0..1
Type	string
Primitive Value	This primitive element may be present, or absent, or replaced by an extension
36. pc-variant-occurrence-lm.genotype
Definition	Field `genotype` from the PROTECT-CHILD data model.
Short	Genotype
Control	0..1
Type	CodeableConcept

IG © 2025 Protect Child. Package pc.ig#0.1.0-ci-build based on FHIR 4.0.1. Generated 2026-02-09
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