Unattributed Code Systems

Copyright Fragment

This fragment is not visible to the reader

This publication includes IP covered under the following statements.

Copyright and Registered Trademark Uses

External References

Type Reference Content
web cbtn.org https://cbtn.org/
web cbtn.org https://cbtn.org/publications
web snomed.info 428263003
web snomed.info 415684004
web snomed.info 410515003
web snomed.info 261665006
web www.ncpi-acc.org IG © 2023+ NCPI FHIR Working Group . Package ncpi-fhir-implementation-guide-v2#0.2.0 based on FHIR 4.0.1 . Generated 2026-03-09
Links: Table of Contents | QA Report
web github.com FHIR 101 is a tutorial inside a Jupyter notebook that was put together by some folks at the Kids First Resource Center.
web fhir-drills.github.io FHIR Drills
web ga4gh.github.io This uses the standard Patient Record extension inherited from the GA4GH PedigreeRelationship profile
web gatk.broadinstitute.org For maximum interoperability with other NCPI systems, prefer these three codes for genetic relationships in PED files :
web ga4gh.github.io While all 55 codes from the GA4GH KIN ontology are available, NCPI systems may not fully support relationships beyond the three core codes above.
web zzz.bwh.harvard.edu We chose the direction of the relationship to match PED files ( plink Harvard Medical School definition , Broad Institute definition ), which go from the individual to the mother and father.
web gatk.broadinstitute.org We chose the direction of the relationship to match PED files ( plink Harvard Medical School definition , Broad Institute definition ), which go from the individual to the mother and father.
web gatk.broadinstitute.org Family Relationships describe the relationship between two Participants. The core use case is to present biological parentage of a participant to support family / pedigree analyses. In this spirit, platforms should seek to provide minimally the information in a PED file :
web ga4gh.github.io GA4GH Family Relationships are defined in the GA4GH Pedigree FHIR IG specification.
web ga4gh.github.io This NcpiFamilyRelationship profile derives from the GA4GH PedigreeRelationship profile and uses codes from the GA4GH KIN ontology . The profile includes all 55 KIN codes in its ValueSet and maintains the parent's required binding for full GA4GH compatibility.
web ga4gh.github.io This NcpiFamilyRelationship profile derives from the GA4GH PedigreeRelationship profile and uses codes from the GA4GH KIN ontology . The profile includes all 55 KIN codes in its ValueSet and maintains the parent's required binding for full GA4GH compatibility.
web ga4gh.github.io Please note that the original GA4GH profiles were built using older tooling that wasn't intended for being published 'as is'. As a result, some of the links below will be invalid. Please use the GA4GH PedigreeRelationship instead.
web edamontology.org format and relatedFile.type should use EDAM terminology (i.e., codes) when available. Other file type code systems are allowed if a suitable EDAM code does not exist.
web snomed.info    428263003
web snomed.info    415684004
web snomed.info    410515003
web snomed.info    261665006
web gatk.broadinstitute.org For maximum interoperability with other NCPI systems, prefer these three codes for genetic relationships in pedigrees ( PED files ):
web ga4gh.github.io KIN:027 ("isBiologicalMotherOf") : The relative is the biological mother of the patient.
web ga4gh.github.io KIN:028 ("isBiologicalFatherOf") : The relative is the biological father of the patient.
web ga4gh.github.io KIN:010 ("isMonozygoticMultipleBirthSiblingOf") : The relative and patient are monozygotic twins. For higher-order multiples (triplets, quadruplets, etc.), create KIN:010 relationships between every pair of individuals in the multiple. Since this is a non-directed relationship, each pair requires two FamilyRelationship resources (A→B and B→A).
web ga4gh.github.io The full KIN ontology provides 55 relationship codes including adoptive parents, step-relations, grandparents, and more. While all codes are available for use, NCPI systems may not fully support relationships beyond the three core codes listed above.
web github.com calkinsh
web github.com RobertJCarroll
web github.com JamedFV
web github.com brendagutman
web github.com ShahimEssaid
web github.com allisonheath
web github.com a-l-holmes
web github.com fiendish
web github.com liberaliscomputing
web github.com nicholasvk
web github.com znatty22
web github.com torstees
web github.com bwalsh
web github.com aw3334
web fshschool.org FSH School - This is a great resource for both reference and introductory material
web fshschool.org Sushi Tutoria - Walkthrough guide for creating a sushi project, creating a handful of profiles using sushi and building a formal IG website on your local system.
web en.wikipedia.org Variant of Camel case where the first letter of the string is always upper case
web fshschool.org Filenames of all kinds should contain no whitespace. There are rules determining how we must name content that gets merged into the various artifact pages which is described over at fshschool.org toward the bottom of that page. In order to clearly differentiate between these artifact components and the text narrative pages, those stand-alone narrative pages must exist in files named using snake case .
web en.wikipedia.org Filenames of all kinds should contain no whitespace. There are rules determining how we must name content that gets merged into the various artifact pages which is described over at fshschool.org toward the bottom of that page. In order to clearly differentiate between these artifact components and the text narrative pages, those stand-alone narrative pages must exist in files named using snake case .
web en.wikipedia.org Sushi will parse the filename and apply title case to construct a meaningful starting header and title. For titles where that doesn't work, such as fhir_basics which would incorrectly result in a title, Fhir Basics , contributors should add an appropriate entry to the sushi-config pages heading as can be seen in this example configuration . By assigning the title property for a given page, the contributor can provide any type of case as is appropriate.
web fshschool.org Sushi will parse the filename and apply title case to construct a meaningful starting header and title. For titles where that doesn't work, such as fhir_basics which would incorrectly result in a title, Fhir Basics , contributors should add an appropriate entry to the sushi-config pages heading as can be seen in this example configuration . By assigning the title property for a given page, the contributor can provide any type of case as is appropriate.
web github.com The FSH code for the CBTN example can be found in the NCPI FHIR IG 2 repository at ncpi-fhir-ig-2/input/fsh/examples or with this direct link .
web github.com The FSH code for the GREGoR example can be found in the NCPI FHIR IG 2 repository at ncpi-fhir-ig-2/input/fsh/examples/GREGoR_example.fsh or with this direct link .
web ga4gh.github.io We align with the work done by GA4GH to model family relationships via the Pedigree IG . Our NcpiFamilyRelationship profile derives from the GA4GH PedigreeRelationship profile and uses codes from the KIN ontology . While all 55 KIN codes are available for full GA4GH compatibility, NCPI recommends a canonical approach using three core codes ( KIN:027 ( isBiologicalMotherOf ), KIN:028 ( isBiologicalFatherOf ), KIN:010 ( isMonozygoticMultipleBirthSiblingOf )) that can express all pedigree relationships when combined with inferred individuals.
web ga4gh.github.io We align with the work done by GA4GH to model family relationships via the Pedigree IG . Our NcpiFamilyRelationship profile derives from the GA4GH PedigreeRelationship profile and uses codes from the KIN ontology . While all 55 KIN codes are available for full GA4GH compatibility, NCPI recommends a canonical approach using three core codes ( KIN:027 ( isBiologicalMotherOf ), KIN:028 ( isBiologicalFatherOf ), KIN:010 ( isMonozygoticMultipleBirthSiblingOf )) that can express all pedigree relationships when combined with inferred individuals.

Internal Images

ncpi_family_module_relationships.png
ncpi_family_module_relationships.png
ncpi_modules_relationship_overview.png
ncpi_modules_relationship_overview.png
ncpi_phenotype_condition_module.png
ncpi_phenotype_condition_module.png
research-study-structure.png
research-study-structure.png
tree-filter.png
tree-filter.png