value_sets:
- id: SNOMEDCT:281053000
  label: Sex at Birth Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '248152002'
    label: Female
  - system: SNOMEDCT
    code: '248153007'
    label: Male
  - system: SNOMEDCT
    code: '184115007'
    label: Patient sex unknown
  - system: SNOMEDCT
    code: '32570691000036108'
    label: Intersex
  - system: SNOMEDCT
    code: '1220561009'
    label: Not recorded
- id: SNOMEDCT:1296886006
  label: Karyotypic Sex Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '734875008'
    label: XX
  - system: SNOMEDCT
    code: '734876009'
    label: XY
  - system: SNOMEDCT
    code: '80427008'
    label: X0
  - system: SNOMEDCT
    code: '65162001'
    label: XXY
  - system: SNOMEDCT
    code: '35111009'
    label: XXX
  - system: SNOMEDCT
    code: '403760006'
    label: XXYY
  - system: SNOMEDCT
    code: '78317008'
    label: XXXY
  - system: SNOMEDCT
    code: '10567003'
    label: XXXX
  - system: SNOMEDCT
    code: '48930007'
    label: XYY
  - system: SNOMEDCT
    code: '74964007'
    label: Other
- id: SNOMEDCT:263495000
  label: Gender Identity Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '446141000124107'
    label: Female gender identity
  - system: SNOMEDCT
    code: '446151000124109'
    label: Male gender identity
  - system: SNOMEDCT
    code: '394743007'
    label: Gender unknown
  - system: SNOMEDCT
    code: '33791000087105'
    label: Identifies as nonbinary gender
  - system: SNOMEDCT
    code: '1220561009'
    label: Not recorded
- id: SNOMEDCT:278844005
  label: Vital Status Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '438949009'
    label: Alive
  - system: SNOMEDCT
    code: '419099009'
    label: Dead
  - system: SNOMEDCT
    code: '399307001'
    label: Unknown - Lost in follow-up
  - system: SNOMEDCT
    code: '185924006'
    label: Unknown - Opted-out
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown - Other Reason
- id: SNOMEDCT:105727008
  label: Age Category Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '3658006'
    label: Infancy
  - system: SNOMEDCT
    code: '713153009'
    label: Toddler
  - system: SNOMEDCT
    code: '255398004'
    label: Childhood
  - system: SNOMEDCT
    code: '263659003'
    label: Adolescence
  - system: SNOMEDCT
    code: '41847000'
    label: Adulthood
  - system: SNOMEDCT
    code: '303112003'
    label: Fetal period
  - system: SNOMEDCT
    code: '419099009'
    label: Dead
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: SNOMEDCT:278844005
  label: Vital Status Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '438949009'
    label: Alive
  - system: SNOMEDCT
    code: '419099009'
    label: Dead
  - system: SNOMEDCT
    code: '399307001'
    label: Unknown - Lost in follow-up
  - system: SNOMEDCT
    code: '185924006'
    label: Unknown - Opted-out
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown - Other Reason
- id: SNOMEDCT:105727008
  label: Age Category Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '3658006'
    label: Infancy
  - system: SNOMEDCT
    code: '713153009'
    label: Toddler
  - system: SNOMEDCT
    code: '255398004'
    label: Childhood
  - system: SNOMEDCT
    code: '263659003'
    label: Adolescence
  - system: SNOMEDCT
    code: '41847000'
    label: Adulthood
  - system: SNOMEDCT
    code: '303112003'
    label: Fetal period
  - system: SNOMEDCT
    code: '419099009'
    label: Dead
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: SNOMEDCT:723663001
  label: Undiagnosed RD Case Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '373066001'
    label: 'Yes'
  - system: SNOMEDCT
    code: '373067005'
    label: 'No'
- id: SNOMEDCT:305058001
  label: Encounter Status Value Set v2.0.0
  codes:
  - system: HL7FHIR
    code: 'planned'
    label: Planned
  - system: HL7FHIR
    code: 'arrived'
    label: Arrived
  - system: HL7FHIR
    code: 'triaged'
    label: Triaged
  - system: HL7FHIR
    code: 'in-progress'
    label: In Progress
  - system: HL7FHIR
    code: 'onleave'
    label: On Leave
  - system: HL7FHIR
    code: 'finished'
    label: Finished
  - system: HL7FHIR
    code: 'cancelled'
    label: Cancelled
  - system: HL7FHIR
    code: 'entered-in-error'
    label: Entered in Error
  - system: HL7FHIR
    code: 'unknown'
    label: Unknown
- id: HL7FHIR:encounter.class
  label: Encounter Class Value Set v2.0.0
  codes:
  - system: HL7FHIR
    code: 'AMB'
    label: Ambulatory
  - system: HL7FHIR
    code: 'IMP'
    label: Inpatient
  - system: HL7FHIR
    code: 'OBSENC'
    label: Observation
  - system: HL7FHIR
    code: 'EMER'
    label: Emergency
  - system: HL7FHIR
    code: 'VR'
    label: Virtual
  - system: HL7FHIR
    code: 'HH'
    label: Home Health
  - system: CustomCode
    code: 'RDC'
    label: RD Specialist Center
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: HL7FHIR:99498-8
  label: Verification Status Value Set v2.0.0
  codes:
  - system: HL7FHIR
    code: 'unconfirmed'
    label: Unconfirmed
  - system: HL7FHIR
    code: 'provisional'
    label: Provisional
  - system: HL7FHIR
    code: 'differential'
    label: Differential
  - system: HL7FHIR
    code: 'confirmed'
    label: Confirmed
  - system: HL7FHIR
    code: 'refuted'
    label: Refuted
  - system: HL7FHIR
    code: 'entered-in-error'
    label: Entered in Error
- id: SNOMEDCT:424850005
  label: Age at Onset Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '118189007'
    label: Prenatal
  - system: SNOMEDCT
    code: '3950001'
    label: Birth
  - system: SNOMEDCT
    code: '410672004'
    label: Date
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: SNOMEDCT:423493009
  label: Age at Diagnosis Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '118189007'
    label: Prenatal
  - system: SNOMEDCT
    code: '3950001'
    label: Birth
  - system: SNOMEDCT
    code: '410672004'
    label: Date
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: SNOMEDCT:363698007
  label: Body Site Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '442083009'
    label: Anatomical or acquired body structure
- id: SNOMEDCT:263493007
  label: Clinical Status Value Set v2.0.0
  codes:
  - system: HL7FHIR
    code: 'active'
    label: Active
  - system: HL7FHIR
    code: 'recurrence'
    label: Recurrence
  - system: HL7FHIR
    code: 'relapse'
    label: Relapse
  - system: HL7FHIR
    code: 'inactive'
    label: Inactive
  - system: HL7FHIR
    code: 'remission'
    label: Remission
  - system: HL7FHIR
    code: 'resolved'
    label: Resolved
- id: SNOMEDCT:246112005
  label: Severity Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '24484000'
    label: Severe
  - system: SNOMEDCT
    code: '6736007'
    label: Moderate severity
  - system: SNOMEDCT
    code: '255604002'
    label: Mild
- id: GA4GH:progress_status
  label: Progress Status Value Set v2.0.0
  codes:
  - system: GA4GH
    code: 'UNKNOWN_PROGRESS'
    label: No information is available aboutthe diagnosis
  - system: GA4GH
    code: 'IN_PROGRESS'
    label: No diagnosis has been found to date but additional differential diagnostic
      work is in progress.
  - system: GA4GH
    code: 'COMPLETED'
    label: The work on the interpretation is complete.
  - system: GA4GH
    code: 'SOLVED'
    label: The interpretation is complete and also considered to be a definitive diagnosis.
  - system: GA4GH
    code: 'UNSOLVED'
    label: The interpretation is complete but no definitive diagnosiswas found.
- id: GA4GH:interpretation_status
  label: Interpretation Status Value Set v2.0.0
  codes:
  - system: GA4GH
    code: 'UNKNOWN_STATUS'
    label: No information is available about the status
  - system: GA4GH
    code: 'REJECTED'
    label: The variant or gene reported here is  interpreted not to be related to
      the diagnosis.
  - system: GA4GH
    code: 'CANDIDATE'
    label: The variant or gene reported here is interpreted to possibly be related
      to the diagnosis.
  - system: GA4GH
    code: 'CONTRIBUTORY'
    label: The variant or gene reported here is  interpreted to be related to the
      diagnosis.
  - system: GA4GH
    code: 'CAUSATIVE'
    label: The variant or gene reported here is  interpreted to be causative of the
      diagnosis.
- id: LOINC:81304-8
  label: Structural Variant Analysis Method Value Set v2.0.0
  codes:
  - system: LOINC
    code: 'LA26406-1'
    label: Karyotyping
  - system: LOINC
    code: 'LA26404-6'
    label: FISH
  - system: LOINC
    code: 'LA26418-6'
    label: PCR
  - system: LOINC
    code: 'LA26419-4'
    label: qPCR (real-time PCR)
  - system: LOINC
    code: 'LA26400-4'
    label: SNP array
  - system: LOINC
    code: 'LA26813-8'
    label: Restriction fragment length polymorphism (RFLP)
  - system: LOINC
    code: 'LA26810-4'
    label: DNA hybridization
  - system: LOINC
    code: 'LA26398-0'
    label: Sequencing
  - system: LOINC
    code: 'LA26415-2'
    label: MLPA
  - system: LOINC
    code: 'LA46-8'
    label: Other
- id: LOINC:62374-4
  label: Reference Genome Value Set v2.0.0
  codes:
  - system: LOINC
    code: 'LA14032-9'
    label: NCBI Build 34 (hg16)
  - system: LOINC
    code: 'LA14029-5'
    label: GRCh37 (hg19)
  - system: LOINC
    code: 'LA14030-3'
    label: NCBI Build 36.1 (hg18)
  - system: LOINC
    code: 'LA14031-1'
    label: NCBI Build 35 (hg17)
  - system: LOINC
    code: 'LA26806-2'
    label: GRCh38 (hg38)
- id: LOINC:53034-5
  label: Zygosity Value Set v2.0.0
  codes:
  - system: LOINC
    code: 'LA6705-3'
    label: Homozygous
  - system: LOINC
    code: 'LA6706-1'
    label: Heterozygous
  - system: LOINC
    code: 'LA26217-2'
    label: Compound heterozygous
  - system: LOINC
    code: 'LA26220-6'
    label: Double heterozygous
  - system: LOINC
    code: 'LA6707-9'
    label: Hemizygous
  - system: LOINC
    code: 'LA6703-8'
    label: Heteroplasmic
  - system: LOINC
    code: 'LA6704-6'
    label: Homoplasmic
  - system: LOINC
    code: 'LA46-8'
    label: Other
- id: LOINC:48002-0
  label: Genomic Source Class Value Set v2.0.0
  codes:
  - system: LOINC
    code: 'LA6683-2'
    label: Germline
  - system: LOINC
    code: 'LA6684-0'
    label: Somatic
  - system: LOINC
    code: 'LA10429-1'
    label: Fetal
  - system: LOINC
    code: 'LA18194-3'
    label: Likely germline
  - system: LOINC
    code: 'LA18195-0'
    label: Likely somatic
  - system: LOINC
    code: 'LA18196-8'
    label: Likely fetal
  - system: LOINC
    code: 'LA18197-6'
    label: Unknown genomic origin
  - system: LOINC
    code: 'LA26807-0'
    label: De novo
- id: LOINC:48019-4
  label: DNA Change Type Value Set v2.0.0
  codes:
  - system: LOINC
    code: 'LA9658-1'
    label: Wild type
  - system: LOINC
    code: 'LA6692-3'
    label: Deletion
  - system: LOINC
    code: 'LA6686-5'
    label: Duplication
  - system: LOINC
    code: 'LA6687-3'
    label: Insertion
  - system: LOINC
    code: 'LA6688-1'
    label: Insertion/Deletion
  - system: LOINC
    code: 'LA6689-9'
    label: Inversion
  - system: LOINC
    code: 'LA6690-7'
    label: Substitution
- id: LOINC:53037-8
  label: Clinical Significance ACMG Value Set v2.0.0
  codes:
  - system: LOINC
    code: 'LA6668-3'
    label: Pathogenic
  - system: LOINC
    code: 'LA26332-9'
    label: Likely pathogenic
  - system: LOINC
    code: 'LA26333-7'
    label: Uncertain significance
  - system: LOINC
    code: 'LA26334-5'
    label: Likely benign
  - system: LOINC
    code: 'LA6675-8'
    label: Benign
  - system: LOINC
    code: 'LA4489-6'
    label: Unknown
- id: GA4GH:therapeutic_actionability
  label: Therapeutic Actionability Value Set v2.0.0
  codes:
  - system: GA4GH
    code: 'UNKNOWN_ACTIONABILITY'
    label: There is not enough information at this time to support any therapeutic
      actionability for this variant.
  - system: GA4GH
    code: 'NOT_ACTIONABLE'
    label: This variant has no therapeutic actionability.
  - system: GA4GH
    code: 'ACTIONABLE'
    label: This variant is known to be therapeuticallyactionalbe.
- id: LOINC:93044-6
  label: Clinical Annotation Level Of Evidence Value Set v2.0.0
  codes:
  - system: LOINC
    code: 'LA30200-2'
    label: Very strong evidence pathogenic
  - system: LOINC
    code: 'LA30201-0'
    label: Strong evidence pathogenic
  - system: LOINC
    code: 'LA30202-8'
    label: Moderate evidence pathogenic
  - system: LOINC
    code: 'LA30203-6'
    label: Supporting evidence pathogenic
  - system: LOINC
    code: 'LA30204-4'
    label: Supporting evidence benign
  - system: LOINC
    code: 'LA30205-1'
    label: Strong evidence benign
  - system: LOINC
    code: 'LA30206-9'
    label: Stand-alone evidence pathogenic
  - system: LOINC
    code: 'LA30207-7'
    label: Stand-alone evidence benign
  - system: LOINC
    code: 'LA26333-7'
    label: Uncertain significance
- id: CustomCode:phenotypicfeature.excluded
  label: Phenotype Status Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '410605003'
    label: Confirmed present
  - system: SNOMEDCT
    code: '723511001'
    label: Refuted
- id: HP:0003674
  label: Onset Category Value Set v2.0.0
  codes:
  - system: HP
    code: '0011460'
    label: Embryonal onset
  - system: HP
    code: '0011461'
    label: Fetal onset
  - system: HP
    code: '0003577'
    label: Congenital onset
  - system: HP
    code: '0003623'
    label: Neonatal onset
  - system: HP
    code: '0003593'
    label: Infantile onset
  - system: HP
    code: '0011463'
    label: Childhood onset
  - system: HP
    code: '0003621'
    label: Juvenile onset
  - system: HP
    code: '0011462'
    label: Young adult onset
  - system: HP
    code: '0003596'
    label: Middle age onset
  - system: HP
    code: '0003584'
    label: Late onset
- id: HP:0011008
  label: Temporal Pattern Value Set v2.0.0
  codes:
  - system: HP
    code: '0011009'
    label: Acute
  - system: HP
    code: '0011010'
    label: Chronic
  - system: HP
    code: '0031914'
    label: Fluctuating
  - system: HP
    code: '0025297'
    label: Prolonged
  - system: HP
    code: '0031796'
    label: Recurrent
  - system: HP
    code: '0031915'
    label: Stable
  - system: HP
    code: '0011011'
    label: Subacute
  - system: HP
    code: '0025153'
    label: Transient
- id: HP:0012824
  label: Severity Value Set v2.0.0
  codes:
  - system: HP
    code: '0012827'
    label: Borderline
  - system: HP
    code: '0012825'
    label: Mild
  - system: HP
    code: '0012826'
    label: Moderate
  - system: HP
    code: '0012829'
    label: Profound
  - system: HP
    code: '0012828'
    label: Severe
- id: SNOMEDCT:64245008
  label: Propositus Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '373066001'
    label: 'Yes'
  - system: SNOMEDCT
    code: '373067005'
    label: 'No'
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
  - system: SNOMEDCT
    code: '1220561009'
    label: Not recorded
- id: SNOMEDCT:408732007
  label: Family Relationship To Index Case Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '65656005'
    label: Natural mother
  - system: SNOMEDCT
    code: '9947008'
    label: Natural father
  - system: SNOMEDCT
    code: '83420006'
    label: Natural daughter
  - system: SNOMEDCT
    code: '113160008'
    label: Natural son
  - system: SNOMEDCT
    code: '60614009'
    label: Natural brother
  - system: SNOMEDCT
    code: '73678001'
    label: Natural sister
  - system: SNOMEDCT
    code: '11286003'
    label: Twin sibling
  - system: SNOMEDCT
    code: '45929001'
    label: Half-brother
  - system: SNOMEDCT
    code: '2272004'
    label: Half-sister
  - system: SNOMEDCT
    code: '62296006'
    label: Natural grandfather
  - system: SNOMEDCT
    code: '17945006'
    label: Natural grandmother
  - system: SNOMEDCT
    code: '1220561009'
    label: Not recorded
- id: SNOMEDCT:842009
  label: Consanguinity Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '373066001'
    label: 'Yes'
  - system: SNOMEDCT
    code: '373067005'
    label: 'No'
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
  - system: SNOMEDCT
    code: '1220561009'
    label: Not recorded
- id: SNOMEDCT:444018008
  label: FamilyMember Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '65656005'
    label: Natural mother
  - system: SNOMEDCT
    code: '9947008'
    label: Natural father
  - system: SNOMEDCT
    code: '83420006'
    label: Natural daughter
  - system: SNOMEDCT
    code: '113160008'
    label: Natural son
  - system: SNOMEDCT
    code: '60614009'
    label: Natural brother
  - system: SNOMEDCT
    code: '73678001'
    label: Natural sister
  - system: SNOMEDCT
    code: '11286003'
    label: Twin sibling
  - system: SNOMEDCT
    code: '45929001'
    label: Half-brother
  - system: SNOMEDCT
    code: '2272004'
    label: Half-sister
  - system: SNOMEDCT
    code: '62296006'
    label: Natural grandfather
  - system: SNOMEDCT
    code: '17945006'
    label: Natural grandmother
  - system: SNOMEDCT
    code: '1220561009'
    label: Not recorded
- id: HL7FHIR:familymemberhistory.status
  label: FamilyHistoryStatus Value Set v2.0.0
  codes:
  - system: HL7FHIR
    code: partial
    label: Partial
  - system: HL7FHIR
    code: completed
    label: Completed
  - system: HL7FHIR
    code: entered-in-error
    label: Entered in Error
  - system: HL7FHIR
    code: health-unknown
    label: Health Unknown
- id: SNOMEDCT:54123-5
  label: AdministrativeGender Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '248152002'
    label: Female
  - system: SNOMEDCT
    code: '248153007'
    label: Male
  - system: SNOMEDCT
    code: '184115007'
    label: Patient sex unknown
  - system: SNOMEDCT
    code: '32570691000036108'
    label: Intersex
  - system: SNOMEDCT
    code: '1220561009'
    label: Not recorded
- id: SNOMEDCT:740604001
  label: Deceased Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '373066001'
    label: 'Yes'
  - system: SNOMEDCT
    code: '373067005'
    label: 'No'
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: HL7FHIR:309370004
  label: Consent Status Value Set v2.0.0
  codes:
  - system: HL7FHIR
    code: 'draft'
    label: Pending
  - system: HL7FHIR
    code: 'proposed'
    label: Proposed
  - system: HL7FHIR
    code: 'active'
    label: Active
  - system: HL7FHIR
    code: 'rejected'
    label: Rejected
  - system: HL7FHIR
    code: 'inactive'
    label: Inactive
  - system: HL7FHIR
    code: 'entered-in-error'
    label: Entered in Error
- id: SNOMEDCT:consent_contact_research
  label: Contact for Research Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '373066001'
    label: 'Yes'
  - system: SNOMEDCT
    code: '373067005'
    label: 'No'
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: SNOMEDCT:conset_data_reuse
  label: Data Reuse Consent Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '373066001'
    label: 'Yes'
  - system: SNOMEDCT
    code: '373067005'
    label: 'No'
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
- id: SNOMEDCT:123038009
  label: Biological Sample Consent Value Set v2.0.0
  codes:
  - system: SNOMEDCT
    code: '373066001'
    label: 'Yes'
  - system: SNOMEDCT
    code: '373067005'
    label: 'No'
  - system: SNOMEDCT
    code: '261665006'
    label: Unknown
