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ConceptualDomain

Y. Laizet edited this page Oct 31, 2016 · 5 revisions

CLINICAL


HL7 v3 Code System AdministrativeGender

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
M Male FHIR (HL7) v3 http://hl7.org/fhir/v3/AdministrativeGender/index.html HL7 v3 Code System AdministrativeGender Enumerated String C2 Patient Gender Sexe Sexe du patient
F Female FHIR (HL7) v3 http://hl7.org/fhir/v3/AdministrativeGender/index.html HL7 v3 Code System AdministrativeGender Enumerated String C2 Patient Gender Sexe Sexe du patient
UN Undifferentiated FHIR (HL7) v3 http://hl7.org/fhir/v3/AdministrativeGender/index.html HL7 v3 Code System AdministrativeGender Enumerated String C2 Patient Gender Sexe Sexe du patient

HL7 v3 Code System Race

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
1002-5 American Indian or Alaska Native FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
1004-1 American Indian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2028-9 Asian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2029-7 Asian Indian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2030-5 Bangladeshi FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2031-3 Bhutanese FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2032-1 Burmese FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2033-9 Cambodian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2034-7 Chinese FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2035-4 Taiwanese FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2036-2 Filipino FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2037-0 Hmong FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2038-8 Indonesian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2039-6 Japanese FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2040-4 Korean FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2041-2 Laotian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2042-0 Malaysian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2043-8 Okinawan FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2044-6 Pakistani FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2045-3 Sri Lankan FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2046-1 Thai FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2047-9 Vietnamese FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2048-7 Iwo Jiman FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2049-5 Maldivian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2050-3 Nepalese FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2051-1 Singaporean FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2052-9 Madagascar FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2054-5 Black or African American FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2056-0 Black FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2058-6 African American FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2060-2 African FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2067-7 Bahamian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2068-5 Barbadian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2069-3 Dominican FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2070-1 Dominica Islander FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2071-9 Haitian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2072-7 Jamaican FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2073-5 Tobagoan FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2074-3 Trinidadian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2075-0 West Indian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2076-8 Native Hawaiian or Other Pacific Islander FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2078-4 Polynesian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2085-9 Micronesian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2100-6 Melanesian FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2500-7 Other Pacific Islander FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2106-3 White FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2108-9 European FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2118-8 Middle Eastern or North African FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient
2129-5 Arab FHIR (HL7) v3 https://www.hl7.org/fhir/v3/Race/index.html HL7 v3 Code System Race Enumerated String C3 Patient Ethnicity Ethnicité Origine ethnique du patient

UMLS:C0007465

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
UMLS:C0277589 Death of unknown cause UMLS https://uts.nlm.nih.gov/metathesaurus.html#C0277589;0;1;CUI;2016AA;EXACT_MATCH;CUI;*; UMLS:C0007465 Enumerated String C7 Patient CauseOfDeath Cause du décès Descriptif de la cause de décès du patient
UMLS:C1707251 Other cancer UMLS https://uts.nlm.nih.gov/metathesaurus.html#C1707251;0;1;CUI;2016AA;EXACT_MATCH;CUI;*; UMLS:C0007465 Enumerated String C7 Patient CauseOfDeath Cause du décès Descriptif de la cause de décès du patient
UMLS:C3262234 Other cause UMLS https://uts.nlm.nih.gov/metathesaurus.html#C3262234;0;1;CUI;2016AA;EXACT_MATCH;CUI;*; UMLS:C0007465 Enumerated String C7 Patient CauseOfDeath Cause du décès Descriptif de la cause de décès du patient
UMLS:C0679861 Complications of treatment UMLS https://uts.nlm.nih.gov/metathesaurus.html#C0679861;0;1;CUI;2016AA;EXACT_MATCH;CUI;*; UMLS:C0007465 Enumerated String C7 Patient CauseOfDeath Cause du décès Descriptif de la cause de décès du patient
UMLS:C0027651 Neoplasm UMLS https://uts.nlm.nih.gov/metathesaurus.html#C0027651;0;1;CUI;2016AA;EXACT_MATCH;CUI;*; UMLS:C0007465 Enumerated String C7 Patient CauseOfDeath Cause du décès Descriptif de la cause de décès du patient

ICD-10

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
ICD-10 cf. ICD-10 ICD-10 http://apps.who.int/classifications/icd10/browse/2016/en ICD-10 Enumerated String C13 RelatedPathology PathologyCode Code Code international de la pathologie associée (hors autre cancer).

CIM-O-3 Topo

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
ICD-O-3-TOPO cf. ICD-O-3-TOPO CIM-O-3 Topo http://codes.iarc.fr/topography CIM-O-3 Topo Enumerated String C17 CancerHistory TopographyCode Code Localisation Code international de la localisation de l'antécédent carcinologique

CIM-O-3 Morpho

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
ICD-O-3-MORPHO cf. ICD-O-3-MORPHO CIM-O-3 Morpho http://codes.iarc.fr/codegroup/2 CIM-O-3 Morpho Enumerated String C18 CancerHistory MorphologyCode Code Morphologie / Lésion Code international de la lésion / type histologique / morphologie de l'antécédent carcinologique

OSIRIS:CancerHistoryType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:C19-1 Individual OSIRIS OSIRIS:CancerHistoryType Enumerated String C19 CancerHistory Type Type Type d'antécédent (Personnel ou Familial)
OSIRIS:C19-2 Family OSIRIS OSIRIS:CancerHistoryType Enumerated String C19 CancerHistory Type Type Type d'antécédent (Personnel ou Familial)

OSIRIS:EventType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
UMLS:C1882062 Neoplasm UMLS OSIRIS:EventType Enumerated String C20 TumorPathologyEvent Type Type Le champ 'Type' permet de décrire à la fois l'événement 'Cancer' en tant que maladie globale que les différents événements constituant cette maladie (Tumeur initiale, Récidive locale, Récidive métastatique).
UMLS:C2939419 Secondary Neoplasm UMLS OSIRIS:EventType Enumerated String C20 TumorPathologyEvent Type Type Le champ 'Type' permet de décrire à la fois l'événement 'Cancer' en tant que maladie globale que les différents événements constituant cette maladie (Tumeur initiale, Récidive locale, Récidive métastatique).
UMLS:C0521158 Recurrent tumor UMLS OSIRIS:EventType Enumerated String C20 TumorPathologyEvent Type Type Le champ 'Type' permet de décrire à la fois l'événement 'Cancer' en tant que maladie globale que les différents événements constituant cette maladie (Tumeur initiale, Récidive locale, Récidive métastatique).
UMLS:C0677930 primary tumor UMLS OSIRIS:EventType Enumerated String C20 TumorPathologyEvent Type Type Le champ 'Type' permet de décrire à la fois l'événement 'Cancer' en tant que maladie globale que les différents événements constituant cette maladie (Tumeur initiale, Récidive locale, Récidive métastatique).

OMS

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
0 activité normale sans restriction OMS OMS Enumerated String C22 TumorPathologyEvent PerformanceStatus Echelle d'autonomie / Performance status Définition de l'échelle d'autonomie (échelle de Karnofsky ou OMS)
1 restreint pour des activités physiques importantes, mais patient ambulant et capable de fournir un travail léger OMS OMS Enumerated String C22 TumorPathologyEvent PerformanceStatus Echelle d'autonomie / Performance status Définition de l'échelle d'autonomie (échelle de Karnofsky ou OMS)
2 ambulant et capable de se prendre en charge, mais incapable de fournir un travail et alité pendant moins de 50 % de son temps OMS OMS Enumerated String C22 TumorPathologyEvent PerformanceStatus Echelle d'autonomie / Performance status Définition de l'échelle d'autonomie (échelle de Karnofsky ou OMS)
3 capacité de prise en charge propre beaucoup plus limitée. Passe plus de 50 % de son temps au lit ou dans une chaise. OMS OMS Enumerated String C22 TumorPathologyEvent PerformanceStatus Echelle d'autonomie / Performance status Définition de l'échelle d'autonomie (échelle de Karnofsky ou OMS)
4 complètement grabataire. Incapable de se prendre en charge. Le patient reste totalement confiné au lit ou dans une chaise. OMS OMS Enumerated String C22 TumorPathologyEvent PerformanceStatus Echelle d'autonomie / Performance status Définition de l'échelle d'autonomie (échelle de Karnofsky ou OMS)

G8

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
G8 nonEnumerated Integer C23 TumorPathologyEvent G8 Outil de dépistage G8 outil d'évaluation de l'état général des patients âgés ayant un cancer

OSIRIS:T_TNM

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
Tx Tx OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T0 T0 OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T1 T1 OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T1a T1a OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T1b T1b OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T1c T1c OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T2 T2 OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T3 T3 OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T4 T4 OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T4a T4a OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T4b T4b OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T4c T4c OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive
T4d T4d OSIRIS:T_TNM Enumerated String C24 TumorPathologyEvent T T Taille de la tumeur, propagation sur le site de la tumeur primitive

OSIRIS:N_TNM

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
Nx Nx OSIRIS:N_TNM Enumerated String C25 TumorPathologyEvent N N Propagation au niveau ganglionnaire
N0 N0 OSIRIS:N_TNM Enumerated String C25 TumorPathologyEvent N N Propagation au niveau ganglionnaire
N1mi N1mi OSIRIS:N_TNM Enumerated String C25 TumorPathologyEvent N N Propagation au niveau ganglionnaire
N1 N1 OSIRIS:N_TNM Enumerated String C25 TumorPathologyEvent N N Propagation au niveau ganglionnaire
N2 N2 OSIRIS:N_TNM Enumerated String C25 TumorPathologyEvent N N Propagation au niveau ganglionnaire
N3 N3 OSIRIS:N_TNM Enumerated String C25 TumorPathologyEvent N N Propagation au niveau ganglionnaire

OSIRIS:M_TNM

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
Mx Mx OSIRIS:M_TNM Enumerated String C26 TumorPathologyEvent M M Propagation à distance, présence de métastases
M0 M0 OSIRIS:M_TNM Enumerated String C26 TumorPathologyEvent M M Propagation à distance, présence de métastases
M1 M1 OSIRIS:M_TNM Enumerated String C26 TumorPathologyEvent M M Propagation à distance, présence de métastases

OSIRIS:TNMVersion

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
UICC TNM Classification 7th edition UICC TNM Classification 7th edition OSIRIS:TNMVersion Enumerated String C27 TumorPathologyEvent TNMVersion Version du TNM Version de la classification TNM

OSIRIS:TNMType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
c Clinique OSIRIS:TNMType Enumerated String C28 TumorPathologyEvent TNMType Type de TNM Type de TNM (clinique, Pathologique, etc…)
p Pathologique OSIRIS:TNMType Enumerated String C28 TumorPathologyEvent TNMType Type de TNM Type de TNM (clinique, Pathologique, etc…)
y Après traitement neoadjuvant OSIRIS:TNMType Enumerated String C28 TumorPathologyEvent TNMType Type de TNM Type de TNM (clinique, Pathologique, etc…)
u Radiologique OSIRIS:TNMType Enumerated String C28 TumorPathologyEvent TNMType Type de TNM Type de TNM (clinique, Pathologique, etc…)

OSIRIS:Laterality

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
UMLS:C0238767 Bilateral UMLS OSIRIS:Laterality Enumerated String C36 TumorPathologyEvent Laterality Latéralité Latéralité de la localisation (si elle existe)
UMLS:C0205091 Left UMLS OSIRIS:Laterality Enumerated String C36 TumorPathologyEvent Laterality Latéralité Latéralité de la localisation (si elle existe)
UMLS:C2939193 Median (qualifier value) UMLS OSIRIS:Laterality Enumerated String C36 TumorPathologyEvent Laterality Latéralité Latéralité de la localisation (si elle existe)
UMLS:C1272460 Not Applicable UMLS OSIRIS:Laterality Enumerated String C36 TumorPathologyEvent Laterality Latéralité Latéralité de la localisation (si elle existe)
UMLS:C0205090 Right UMLS OSIRIS:Laterality Enumerated String C36 TumorPathologyEvent Laterality Latéralité Latéralité de la localisation (si elle existe)
UMLS:C0439673 Unknown UMLS OSIRIS:Laterality Enumerated String C36 TumorPathologyEvent Laterality Latéralité Latéralité de la localisation (si elle existe)

OSIRIS:TreatmentType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
UMLS:C3665472 Chemotherapy UMLS OSIRIS:TreatmentType Enumerated String C41 Treatment Type Type Type de traitement
UMLS:C0279025 Hormone Therapy UMLS OSIRIS:TreatmentType Enumerated String C41 Treatment Type Type Type de traitement
UMLS:C1522449 Therapeutic radiology procedure UMLS OSIRIS:TreatmentType Enumerated String C41 Treatment Type Type Type de traitement
UMLS:C0728940 Surgery UMLS OSIRIS:TreatmentType Enumerated String C41 Treatment Type Type Type de traitement

CCAM

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
CCAM cf. CCAM CCAM http://www.ameli.fr/accueil-de-la-ccam/index.php CCAM Enumerated String C42 Treatment ActivityCode Acte Code CCAM de l'acte

OSIRIS:SurgeryResection

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
R0 Marges macroscopiquement et microscopiquement saines OSIRIS:SurgeryResection Enumerated String C46 Treatment (Type=Surgery) ResectionQuality Qualité de la résection (anapath) Qualité de la résection (anapath)
R1 Marges macroscopiquement saines mais microscopiquement envahies OSIRIS:SurgeryResection Enumerated String C46 Treatment (Type=Surgery) ResectionQuality Qualité de la résection (anapath) Qualité de la résection (anapath)
R2 Marges macroscopiquement et microscopiquement envahies OSIRIS:SurgeryResection Enumerated String C46 Treatment (Type=Surgery) ResectionQuality Qualité de la résection (anapath) Qualité de la résection (anapath)

ATC 5e niveau

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
ATC cf. ATC ATC 5e niveau ATC 5e niveau Enumerated String C51 Drug Code Code molécule Code de la classification thérapeutique
ATC cf. ATC ATC 5e niveau ATC 5e niveau Enumerated String C52 Drug DrugName Nom de la molécule Nom de la molécule

MIABIS-39

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
MIABIS-39 cf. MIABIS-39 MIABIS-39 https://github.com/MIABIS/miabis/wiki/Data-describing-Sample MIABIS-39 nonEnumerated String C53 BiologicalSample SampleId Id unique de l'échantillon Identifiant du prélèvement (père) dans le centre

MIABIS-40

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
MIABIS-40 cf. MIABIS-40 MIABIS-40 https://github.com/MIABIS/miabis/wiki/Data-describing-Sample MIABIS-40 nonEnumerated String C54 BiologicalSample ParentSampleId Identifiant unique de l'échantillon parent Identifiant de l'échantillon dérivé (ADN, ARN, protéine,...)

MIABIS-43

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
MIABIS-43 cf. MIABIS-43 MIABIS-43 https://github.com/MIABIS/miabis/wiki/Data-describing-Sample MIABIS-43 nonEnumerated Date C56 BiologicalSample CollectDate Date du prélèvement Date du prélèvement

MIABIS-41

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
MIABIS-41 cf. MIABIS-41 MIABIS-41/MIABIS-2.0-14 https://github.com/MIABIS/miabis/wiki/Structured-data-and-lists#material-type MIABIS-41 Enumerated String C58 BiologicalSample SampleNature Nature de l'échantillon La nature du contenu
MIABIS-41 cf. MIABIS-41 MIABIS-41/MIABIS-2.0-14 https://github.com/MIABIS/miabis/wiki/Structured-data-and-lists#material-type MIABIS-41 Enumerated String C59 BiologicalSample SampleOrigin Nature du prélèvement (tumoral / sain) Le type de dérivé

OMIC


OSIRIS:TechnicalProtocol

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O6-1 ChIP-on-Chip OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-2 ChIP-seq OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-3 DNA microarray OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-4 DNA targeted panel sequencing OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-5 Exome sequencing OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-6 Mass spectrometry OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-7 MeDIP-Chip OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-8 MeDIP-seq OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-9 Methylation microarray OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-10 RNA microarray OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-11 RNA targeted panel sequencing OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-12 RNA-seq OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-13 RPPA OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-14 Whole genome bisulfite sequencing OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-15 Whole genome sequencing OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment
OSIRIS:O6-16 miRNA microarray OSIRIS OSIRIS:TechnicalProtocol Enumerated String O6 Technology TechnicalProtocol TechnicalProtocol Protocol used for the experiment

OSIRIS:PlatformName

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:PlatformName Enumerated String O7 Technology PlatformName PlatformName Technological platform name (provider followed by the platform name)

OSIRIS:PlatformAccession

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:PlatformAccession nonEnumerated String O8 Technology PlatformAccession PlatformAccession GEO Identifier of the platform

OSIRIS:DateOfExperiment

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:DateOfExperiment nonEnumerated Date O9 Technology DateOfExperiment DateOfExperiment Date when the experiment was performed

OSIRIS:PanelName

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O10-0 Not applicable OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-1 Ion AmpliSeq Cancer Hotspot Panel v2 OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-2 Ion AmpliSeq Colon and Lung Cancer Research Panel v2 OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-3 Ion AmpliSeq Comprehensive Cancer Panel OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-4 Ion AmpliSeq Oncomine Comprehensive Assay OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-5 Ion AmpliSeq Oncomine Focus Assay OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-6 Ion AmpliSeq TP53 Research Panel OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-7 Lyric: Ion AmpliSeq Profiler OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-8 QIAGEN GeneRead DNAseq Targeted Panels V2 OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)
OSIRIS:O10-9 SAFIR02 Panel OSIRIS OSIRIS:PanelName Enumerated String O10 Panel PanelName PanelName Name of the panel targeted by the experimental analysis (provider + name)

OSIRIS:AnalyticPipelineCode

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:AnalyticPipelineCode nonEnumerated String O11 Analysis AnalyticPipelineCode AnalyticPipelineCode Identifier of the pipeline used into the analysis (unique in the center)

OSIRIS:AlgorithmicCellularity

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:AlgorithmicCellularity nonEnumerated Integer O12 Experiment on specimen AlgorithmicCellularity AlgorithmicCellularity Calculated percentage of tumor cells in sample

OSIRIS:AlgorithmicPloïdy

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O13-1 Haploid OSIRIS OSIRIS:AlgorithmicPloïdy Enumerated String O13 Experiment on specimen AlgorithmicPloïdy AlgorithmicPloïdy Calculated number of sets of chromosomes in a cell of the sample
OSIRIS:O13-2 Diploid OSIRIS OSIRIS:AlgorithmicPloïdy Enumerated String O13 Experiment on specimen AlgorithmicPloïdy AlgorithmicPloïdy Calculated number of sets of chromosomes in a cell of the sample
OSIRIS:O13-3 Triploid OSIRIS OSIRIS:AlgorithmicPloïdy Enumerated String O13 Experiment on specimen AlgorithmicPloïdy AlgorithmicPloïdy Calculated number of sets of chromosomes in a cell of the sample
OSIRIS:O13-4 Tetraploid OSIRIS OSIRIS:AlgorithmicPloïdy Enumerated String O13 Experiment on specimen AlgorithmicPloïdy AlgorithmicPloïdy Calculated number of sets of chromosomes in a cell of the sample
OSIRIS:O13-0 Not available OSIRIS OSIRIS:AlgorithmicPloïdy Enumerated String O13 Experiment on specimen AlgorithmicPloïdy AlgorithmicPloïdy Calculated number of sets of chromosomes in a cell of the sample

OSIRIS:NumberOfBreakPoints

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:NumberOfBreakPoints nonEnumerated Integer O14 Experiment on specimen/CpyNb Quality filter NumberOfBreakPoints NumberOfBreakPoints Calculated number of break points in genomic profile

OSIRIS:AlterationType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O15-1 Gene expression OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-2 Protein expression OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-3 Fusion OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-4 Copy number variation OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-5 Genetic variant OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-6 Structural alteration OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-7 Transcription factor OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-8 Histone marks OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-9 Transcript isoform OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)
OSIRIS:O15-10 Viral insertion site OSIRIS OSIRIS:AlterationType Enumerated String O15 Alteration AlterationType AlterationType General type of the detected genetic alteration (high level type)

OSIRIS:ValidationType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O15-11 Experimental OSIRIS OSIRIS:ValidationType Enumerated String O16 Alteration ValidationType ValidationType Type of validation of the detected alteration
OSIRIS:O15-12 By biologist OSIRIS OSIRIS:ValidationType Enumerated String O16 Alteration ValidationType ValidationType Type of validation of the detected alteration
OSIRIS:O15-13 In silico OSIRIS OSIRIS:ValidationType Enumerated String O16 Alteration ValidationType ValidationType Type of validation of the detected alteration

OSIRIS:ValidationMethod

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:ValidationMethod nonEnumerated String O17 Validation ValidationMethod ValidationMethod Validation method depending on the type of validation

OSIRIS:ValidationStatus

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O18-1 Not Validated OSIRIS OSIRIS:ValidationStatus Enumerated String O18 Validation ValidationStatus ValidationStatus Validation status of the detected alteration
OSIRIS:O18-2 Validated OSIRIS OSIRIS:ValidationStatus Enumerated String O18 Validation ValidationStatus ValidationStatus Validation status of the detected alteration

OSIRIS:Chromosome

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
LA21254-0 chr1 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21255-7 chr2 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21256-5 chr3 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21257-3 chr4 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21258-1 chr5 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21259-9 chr6 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21260-7 chr7 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21261-5 chr8 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21262-3 chr9 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21263-1 chr10 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21264-9 chr11 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21265-6 chr12 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21266-4 chr13 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21267-2 chr14 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21268-0 chr15 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21269-8 chr16 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21270-6 chr17 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21271-4 chr18 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21272-2 chr19 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21273-0 chr20 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21274-8 chr21 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21275-5 chr22 OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21276-3 chrX OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
LA21277-1 chrY OSIRIS http://r.details.loinc.org/AnswerList/LL2938-0.html OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
OSIRIS:O19-1 MT OSIRIS OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
OSIRIS:O19-2 viral OSIRIS OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding
OSIRIS:O19-3 bacterial OSIRIS OSIRIS:Chromosome Enumerated String O19 Alteration Chromosome Chromosome Chromosome containing the genetic finding

FHIR:extension-geneticsGenomicStart

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR (HL7) http://hl7.org/fhir/extension-geneticsgenomicstart.html FHIR:extension-geneticsGenomicStart nonEnumerated Integer O20 Alteration GenomicStart GenomicStart Nucleotide location for start of genomic finding on the positive (+) genomics strand, 1-based

FHIR:extension-geneticsGenomicStop

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR (HL7) http://hl7.org/fhir/extension-geneticsgenomicstop.html FHIR:extension-geneticsGenomicStop nonEnumerated Integer O21 Alteration GenomicStop GenomicStop Exclusive 0-based nucleotide position for end of genomic finding on the positive (+) genomic strand. <===> Nucleotide location for end of genomic finding on the positive (+) genomic strand, 1-based

FHIR:extension-geneticsGenomeBuild

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O22-1 GRCh37 FHIR (HL7) https://www.hl7.org/fhir/extension-geneticsgenomebuild.html FHIR:extension-geneticsGenomeBuild Enumerated String O22 Alteration GenomeBuild GenomeBuild Genome Build used for reference
OSIRIS:O22-2 GRCh38 FHIR (HL7) https://www.hl7.org/fhir/extension-geneticsgenomebuild.html FHIR:extension-geneticsGenomeBuild Enumerated String O22 Alteration GenomeBuild GenomeBuild Genome Build used for reference

UCSC

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
UCSC cytoband UCSC cytoband UCSC http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/cytoBand.txt.gz UCSC nonEnumerated String O23 Alteration Cytoband Cytoband Cytogenetic location

OSIRIS:GenomeEntityType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O24-1 gene OSIRIS OSIRIS:GenomeEntityType Enumerated String O24 Genome entity GenomeEntityType GenomeEntityType Type of the genome entity. For eg: gene, mRNA, ncRNA...
OSIRIS:O24-2 miRNA OSIRIS OSIRIS:GenomeEntityType Enumerated String O24 Genome entity GenomeEntityType GenomeEntityType Type of the genome entity. For eg: gene, mRNA, ncRNA...
OSIRIS:O24-3 piRNA OSIRIS OSIRIS:GenomeEntityType Enumerated String O24 Genome entity GenomeEntityType GenomeEntityType Type of the genome entity. For eg: gene, mRNA, ncRNA...
OSIRIS:O24-4 mRNA OSIRIS OSIRIS:GenomeEntityType Enumerated String O24 Genome entity GenomeEntityType GenomeEntityType Type of the genome entity. For eg: gene, mRNA, ncRNA...
OSIRIS:O24-5 ncRNA OSIRIS OSIRIS:GenomeEntityType Enumerated String O24 Genome entity GenomeEntityType GenomeEntityType Type of the genome entity. For eg: gene, mRNA, ncRNA...
OSIRIS:O24-6 ORF OSIRIS OSIRIS:GenomeEntityType Enumerated String O24 Genome entity GenomeEntityType GenomeEntityType Type of the genome entity. For eg: gene, mRNA, ncRNA...

OSIRIS:GenomeEntityDatabase

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O25-1 HGNC OSIRIS OSIRIS:GenomeEntityDatabase Enumerated String O25 Genome entity GenomeEntityDatabase GenomeEntityDatabase Database of the genome entity
OSIRIS:O25-2 miRDB OSIRIS OSIRIS:GenomeEntityDatabase Enumerated String O25 Genome entity GenomeEntityDatabase GenomeEntityDatabase Database of the genome entity
OSIRIS:O25-3 Entrez OSIRIS OSIRIS:GenomeEntityDatabase Enumerated String O25 Genome entity GenomeEntityDatabase GenomeEntityDatabase Database of the genome entity

FHIR:extension-observation-geneticsGene

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR http://hl7.org/fhir/2016May/extension-observation-geneticsgene.html FHIR:extension-observation-geneticsGene nonEnumerated String O26 Genome entity GenomeEntityId GenomeEntityId Identifier of the genome entity in the genome entity database

LOINC:48018-6

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
HGNC ID HGNC Approved Symbol LOINC http://www.genenames.org/ LOINC:48018-6 nonEnumerated String O27 Genome entity GeneSymbol GeneSymbol Hugo gene symbol

OSIRIS:FusionType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
LA26331-1 translocation LOINC http://r.details.loinc.org/LOINC/81289-1.html OSIRIS:FusionType Enumerated String O28 Fusion FusionType FusionType Type of the fusion event. For eg: translocation, readthrough
OSIRIS:O28-1 readthrough OSIRIS OSIRIS:FusionType Enumerated String O28 Fusion FusionType FusionType Type of the fusion event. For eg: translocation, readthrough

OSIRIS:FusionTranscript

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionTranscript nonEnumerated Boolean O29 Fusion FusionTranscript FusionTranscript Have been found from a fusion transcript ?

OSIRIS:FusionTranscriptReference

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionTranscriptReference nonEnumerated String O30 Fusion FusionTranscriptReference FusionTranscriptReference Accession number of observed fusion

FHIR:extension-observation-geneticsDNARegionName

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR http://hl7.org/fhir/2016May/extension-observation-geneticsdnaregionname.html FHIR:extension-observation-geneticsDNARegionName nonEnumerated String O32 Fusion FusionRegionName5prime FusionRegionName5prime Human readable name for the region of interest from the 5 prime fusion partner. For eg : Exon, Intron

FHIR:extension-observation-geneticsTranscriptReferenceSequenceId

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR http://hl7.org/fhir/2016May/extension-observation-geneticstranscriptreferencesequenceid.html FHIR:extension-observation-geneticsTranscriptReferenceSequenceId nonEnumerated String O33 Fusion FusionTranscriptReferenceSequenceId5prime FusionTranscriptReferenceSequenceId5prime Reference identifier for cDNA transcript of the 5 prime fusion partner, with version, from NCBI's RefSeq or ENSEMBL.

OSIRIS:FusionStrand5prime

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionStrand5prime nonEnumerated String O34 Fusion FusionStrand5prime FusionStrand5prime Strand of the 5 prime fusion partner

OSIRIS:FusionPoint5prime

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionPoint5prime nonEnumerated String O35 Fusion FusionPoint5prime FusionPoint5prime Position of the fusion point on the 5 prime partner

OSIRIS:FusionStrand3prime

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionStrand3prime nonEnumerated String O39 Fusion FusionStrand3prime FusionStrand3prime Strand of the 3 prime fusion partner

OSIRIS:FusionPoint3prime

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionPoint3prime nonEnumerated Integer O40 Fusion FusionPoint3prime FusionPoint3prime Position of the fusion point on the 3 prime partner

OSIRIS:FusionInFrame

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionInFrame nonEnumerated Boolean O41 Fusion FusionInFrame FusionInFrame Specify whether the fusion is in frame

OSIRIS:FusionAnnotationReferentiel

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O42-1 ChimerDb OSIRIS OSIRIS:FusionAnnotationReferentiel Enumerated String O42 Fusion Analysis FusionAnnotationReferentiel FusionAnnotationReferentiel Reference database to annotate the fusion
OSIRIS:O42-2 Oncofuse OSIRIS OSIRIS:FusionAnnotationReferentiel Enumerated String O42 Fusion Analysis FusionAnnotationReferentiel FusionAnnotationReferentiel Reference database to annotate the fusion
OSIRIS:O42-3 Mittelman DB OSIRIS OSIRIS:FusionAnnotationReferentiel Enumerated String O42 Fusion Analysis FusionAnnotationReferentiel FusionAnnotationReferentiel Reference database to annotate the fusion

OSIRIS:FusionAnnotationValue

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionAnnotationValue nonEnumerated String O43 Fusion Analysis FusionAnnotationValue FusionAnnotationValue Annotation of the fusion

OSIRIS:FusionNbSpanningPair

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionNbSpanningPair nonEnumerated Integer O44 Fusion/QualityFilter FusionNbSpanningPair FusionNbSpanningPair Number of reads pairs spanning the fusion

OSIRIS:FusionNbSplitReads

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:FusionNbSplitReads nonEnumerated Integer O46 Fusion/QualityFilter FusionNbSplitReads FusionNbSplitReads Number of reads containing the fusion point

OSIRIS:SegmentIntensity

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:SegmentIntensity nonEnumerated Float O47 Segment copy number SegmentIntensity SegmentIntensity Intensity of the measured signal

OSIRIS:SegmentGenomicStatus

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O49-1 Amplification OSIRIS OSIRIS:SegmentGenomicStatus Enumerated String O49 Segment copy number SegmentGenomicStatus SegmentGenomicStatus Copy number status
OSIRIS:O49-2 Gain OSIRIS OSIRIS:SegmentGenomicStatus Enumerated String O49 Segment copy number SegmentGenomicStatus SegmentGenomicStatus Copy number status
OSIRIS:O49-3 Normal OSIRIS OSIRIS:SegmentGenomicStatus Enumerated String O49 Segment copy number SegmentGenomicStatus SegmentGenomicStatus Copy number status
OSIRIS:O49-4 Heretozygous deletion OSIRIS OSIRIS:SegmentGenomicStatus Enumerated String O49 Segment copy number SegmentGenomicStatus SegmentGenomicStatus Copy number status
OSIRIS:O49-5 Homozygous deletion OSIRIS OSIRIS:SegmentGenomicStatus Enumerated String O49 Segment copy number SegmentGenomicStatus SegmentGenomicStatus Copy number status
OSIRIS:O49-6 Copy neutral OSIRIS OSIRIS:SegmentGenomicStatus Enumerated String O49 Segment copy number SegmentGenomicStatus SegmentGenomicStatus Copy number status
OSIRIS:O49-7 Isodisomy OSIRIS OSIRIS:SegmentGenomicStatus Enumerated String O49 Segment copy number SegmentGenomicStatus SegmentGenomicStatus Copy number status

OSIRIS:CopyNumber

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:CopyNumber nonEnumerated Integer O50 Segment copy number CopyNumber CopyNumber Estimated DNA copy number

OSIRIS:LossOfHeterozygosity

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:LossOfHeterozygosity nonEnumerated Boolean O51 Segment LOH LossOfHeterozygosity LossOfHeterozygosity Is the segment located in a region of loss of heterozygosity ? (can be independant from copy number information

FHIR:Sequence.referenceAllele

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR https://www.hl7.org/fhir/2016Jan/sequence-definitions.html#Sequence.referenceAllele FHIR:Sequence.referenceAllele nonEnumerated String O53 Reference variant ReferenceAllele ReferenceAllele Plus strand reference allele at this position. Include the sequence deleted for a deletion, or '-' for an insertion.

FHIR:Sequence.observedAllele

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR https://www.hl7.org/fhir/2016Jan/sequence-definitions.html#Sequence.observedAllele FHIR:Sequence.observedAllele nonEnumerated String O54 Reference variant AlternativeAllele AlternativeAllele Plus strand observed alternative allele at this position. Include the sequence inserted for a insertion, or '-' for a deletion.

LOINC:48019-4

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
LA6692-3 Deletion LOINC http://r.details.loinc.org/LOINC/48019-4.html LOINC:48019-4 Enumerated String O55 Reference variant DNASequenceVariationType DNASequenceVariationType Codified type of the DNA sequence variation
LA6686-5 Duplication LOINC http://r.details.loinc.org/LOINC/48019-4.html LOINC:48019-4 Enumerated String O55 Reference variant DNASequenceVariationType DNASequenceVariationType Codified type of the DNA sequence variation
LA6687-3 Insertion LOINC http://r.details.loinc.org/LOINC/48019-4.html LOINC:48019-4 Enumerated String O55 Reference variant DNASequenceVariationType DNASequenceVariationType Codified type of the DNA sequence variation
LA6689-9 Inversion LOINC http://r.details.loinc.org/LOINC/48019-4.html LOINC:48019-4 Enumerated String O55 Reference variant DNASequenceVariationType DNASequenceVariationType Codified type of the DNA sequence variation
LA6690-7 Substitution LOINC http://r.details.loinc.org/LOINC/48019-4.html LOINC:48019-4 Enumerated String O55 Reference variant DNASequenceVariationType DNASequenceVariationType Codified type of the DNA sequence variation

OSIRIS:VariationDatabase

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:VariationDatabase Enumerated String O56 Reference variant VariationDatabase VariationDatabase Name of the variation database

OSIRIS:VariationId

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:VariationId nonEnumerated String O57 Reference variant VariationId VariationId Identifier for variant in the variation database

OSIRIS:PfamDomain

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:PfamDomain nonEnumerated String O58 Reference variant PfamDomain PfamDomain Pfams domains related to alteration position

OSIRIS:PfamId

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:PfamId nonEnumerated String O59 Reference variant PfamId PfamId Identifier of Pfams domains related to alteration position

OSIRIS:MutationPredictionAlgorithm

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O63-1 SIFT OSIRIS OSIRIS:MutationPredictionAlgorithm Enumerated String O63 Reference variant MutationPredictionAlgorithm MutationPredictionAlgorithm Algorithm to predict the variation effect over the protein
OSIRIS:O63-2 POLYPHEN2_HDIV OSIRIS OSIRIS:MutationPredictionAlgorithm Enumerated String O63 Reference variant MutationPredictionAlgorithm MutationPredictionAlgorithm Algorithm to predict the variation effect over the protein

OSIRIS:MutationPredictionValue

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:MutationPredictionValue nonEnumerated String O64 Reference variant MutationPredictionValue MutationPredictionValue Prediction of the variation effect over the protein

OSIRIS:MutationPredictionScore

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:MutationPredictionScore nonEnumerated Float O65 Reference variant MutationPredictionScore MutationPredictionScore Level of confidence of the prediction of the variation effect over the protein

OSIRIS:ProteinReferenceDatabase

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O67-1 RefSeq OSIRIS OSIRIS:ProteinReferenceDatabase Enumerated String O67 Protein ProteinReferenceDatabase ProteinReferenceDatabase Name of the protein reference database
OSIRIS:O67-2 SwissProt OSIRIS OSIRIS:ProteinReferenceDatabase Enumerated String O67 Protein ProteinReferenceDatabase ProteinReferenceDatabase Name of the protein reference database
OSIRIS:O67-3 UniProt OSIRIS OSIRIS:ProteinReferenceDatabase Enumerated String O67 Protein ProteinReferenceDatabase ProteinReferenceDatabase Name of the protein reference database

FHIR:extension-observation-geneticsProteinReferenceSequenceId

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR http://hl7.org/fhir/2016May/extension-observation-geneticsproteinreferencesequenceid.html FHIR:extension-observation-geneticsProteinReferenceSequenceId nonEnumerated String O68 Protein ProteinReferenceSequenceId ProteinReferenceSequenceId Reference identifier of the protein transcript

OSIRIS:TranscriptReferenceDatabase

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O69-1 RefSeq OSIRIS OSIRIS:TranscriptReferenceDatabase Enumerated String O69 Exonic variant TranscriptReferenceDatabase TranscriptReferenceDatabase Name of the sequence reference database
OSIRIS:O69-2 Ensembl OSIRIS OSIRIS:TranscriptReferenceDatabase Enumerated String O69 Exonic variant TranscriptReferenceDatabase TranscriptReferenceDatabase Name of the sequence reference database

FHIR:extension-observation-geneticsDNASequenceVariation

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR http://hl7.org/fhir/2016May/extension-observation-geneticsdnasequencevariation.html FHIR:extension-observation-geneticsDNASequenceVariation nonEnumerated String O71 Exonic variant DNASequenceVariation DNASequenceVariation HGVS nomenclature on the chosen transcript

FHIR:extension-observation-geneticsAminoAcidChange

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
FHIR http://hl7.org/fhir/2016May/extension-observation-geneticsaminoacidchange.html FHIR:extension-observation-geneticsAminoAcidChange nonEnumerated String O72 Exonic variant AminoAcidChange AminoAcidChange HGVS nomenclature on the chosen protein transcript

OSIRIS:GenomicSequenceVariation

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:GenomicSequenceVariation nonEnumerated String O73 Exonic variant GenomicSequenceVariation GenomicSequenceVariation HGVS nomenclature on the given GenomeReferenceSequenceId.

OSIRIS:RNASequenceVariation

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:RNASequenceVariation nonEnumerated String O74 Exonic variant RNASequenceVariation RNASequenceVariation HGVS nomenclature on the given TranscriptReferenceSequenceId and experimentely observed on RNA.

OSIRIS:AminoAcidChangeType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
LA6692-3 Deletion LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6686-5 Duplication LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6694-9 Frameshift LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6695-6 Initiating Methionine LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6687-3 Insertion LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA9659-9 Insertion and Deletion LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6698-0 Missense LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6699-8 Nonsense LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6700-4 Silent LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
LA6701-2 Stop Codon Mutation LOINC http://r.details.loinc.org/LOINC/48006-1.html OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level
OSIRIS:O75-1 In frame OSIRIS OSIRIS:AminoAcidChangeType Enumerated String O75 Exonic variant AminoAcidChangeType AminoAcidChangeType HGVS nomenclature of changes at protein-level

OSIRIS:PositionCoverage

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:PositionCoverage nonEnumerated Integer O76 Variant in specimen PositionCoverage PositionCoverage Total coverage at the variant position observed in the specimen

OSIRIS:VariantCoverage

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:VariantCoverage nonEnumerated Integer O77 Variant in specimen VariantCoverage VariantCoverage Coverage of the alternative allele at the variant position observed in the specimen

OSIRIS:StrandBias

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:StrandBias nonEnumerated Boolean O78 Variant in specimen StrandBias StrandBias Indication of the existence of strand bias at the variant position

LOINC:LL378-1

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
LA6683-2 Germline LOINC http://s.details.loinc.org/LOINC/48002-0.html LOINC:LL378-1 Enumerated String O79 Variant in specimen GenomicSourceClass GenomicSourceClass Genomic class of the variant (eg: germline, somatic, and prenatal)
LA6684-0 Somatic LOINC http://s.details.loinc.org/LOINC/48002-0.html LOINC:LL378-1 Enumerated String O79 Variant in specimen GenomicSourceClass GenomicSourceClass Genomic class of the variant (eg: germline, somatic, and prenatal)
LA10429-1 Prenatal LOINC http://s.details.loinc.org/LOINC/48002-0.html LOINC:LL378-1 Enumerated String O79 Variant in specimen GenomicSourceClass GenomicSourceClass Genomic class of the variant (eg: germline, somatic, and prenatal)
LA18197-6 Unknown genomic origin LOINC http://s.details.loinc.org/LOINC/48002-0.html LOINC:LL378-1 Enumerated String O79 Variant in specimen GenomicSourceClass GenomicSourceClass Genomic class of the variant (eg: germline, somatic, and prenatal)

LOINC:LL381-5

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
LA6703-8 Heteroplasmic LOINC http://s.details.loinc.org/LOINC/53034-5.html LOINC:LL381-5 Enumerated String O80 Variant in specimen AllelicState AllelicState Level of allelic occurrence of a DNA Sequence Variation
LA6704-6 Homoplasmic LOINC http://s.details.loinc.org/LOINC/53034-5.html LOINC:LL381-5 Enumerated String O80 Variant in specimen AllelicState AllelicState Level of allelic occurrence of a DNA Sequence Variation
LA6705-3 Homozygous LOINC http://s.details.loinc.org/LOINC/53034-5.html LOINC:LL381-5 Enumerated String O80 Variant in specimen AllelicState AllelicState Level of allelic occurrence of a DNA Sequence Variation
LA6706-1 Heterozygous LOINC http://s.details.loinc.org/LOINC/53034-5.html LOINC:LL381-5 Enumerated String O80 Variant in specimen AllelicState AllelicState Level of allelic occurrence of a DNA Sequence Variation
LA6707-9 Hemizygous LOINC http://s.details.loinc.org/LOINC/53034-5.html LOINC:LL381-5 Enumerated String O80 Variant in specimen AllelicState AllelicState Level of allelic occurrence of a DNA Sequence Variation

ACMG

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O81-1 Pathogenic ACMG ACMG Enumerated String O81 Variant in specimen MolecularTumorBoardConclusion MolecularTumorBoardConclusion Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
OSIRIS:O81-2 Likely pathogenic ACMG ACMG Enumerated String O81 Variant in specimen MolecularTumorBoardConclusion MolecularTumorBoardConclusion Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
OSIRIS:O81-3 Benign ACMG ACMG Enumerated String O81 Variant in specimen MolecularTumorBoardConclusion MolecularTumorBoardConclusion Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
OSIRIS:O81-4 Likely benign ACMG ACMG Enumerated String O81 Variant in specimen MolecularTumorBoardConclusion MolecularTumorBoardConclusion Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board
OSIRIS:O81-5 Uncertain significance ACMG ACMG Enumerated String O81 Variant in specimen MolecularTumorBoardConclusion MolecularTumorBoardConclusion Conclusion of the biologist on the pathogenicity of the variant before the Molecular Tumor Board

OBI

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O82-1 Actionable OSIRIS OBI Enumerated String O82 Variant in specimen ClinicalTumorBoardConclusion ClinicalTumorBoardConclusion Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
OSIRIS:O82-2 Non actionable OSIRIS OBI Enumerated String O82 Variant in specimen ClinicalTumorBoardConclusion ClinicalTumorBoardConclusion Conclusion of the clinicians wether the variant is actionable or not during the Molecular Tumor Board
OSIRIS OBI nonEnumerated Boolean O83 Variant in specimen ProposedForOrientation ProposedForOrientation Is the ClinicalTumorBoardConclusion used to orient the treatment decision ?

OSIRIS:ExpressionDataType

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS:O84-1 RawExpression OSIRIS OSIRIS:ExpressionDataType Enumerated String O84 Gene expression ExpressionDataType ExpressionDataType Type of the expression value corresponding to the level of data processing
OSIRIS:O84-2 NormalizedExpression OSIRIS OSIRIS:ExpressionDataType Enumerated String O84 Gene expression ExpressionDataType ExpressionDataType Type of the expression value corresponding to the level of data processing

OSIRIS:ExpressionValue

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:ExpressionValue nonEnumerated Float O85 Gene expression ExpressionValue ExpressionValue Numerical value for expression

OSIRIS:ExpressionPvalueAdjustmentMethod

ValueMeaning LabelValueMeaning Referentiel url ConceptualDomain TypeConceptualDomain FormatConceptualDomain IdDataElementConcept ObjectClass ObjectProperty DataElementConcept DefDataElementConcept
OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod nonEnumerated Float O86 Gene expression ExpressionPvalue ExpressionPvalue p-value of the dataset comparison through a statistical method
OSIRIS:O87-0 no correction OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
OSIRIS:O87-1 bonferroni OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
OSIRIS:O87-2 holm OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
OSIRIS:O87-3 hochberg OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
OSIRIS:O87-4 hommel OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
OSIRIS:O87-5 BY OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
OSIRIS:O87-6 BH OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
OSIRIS:O87-7 fdr OSIRIS OSIRIS:ExpressionPvalueAdjustmentMethod Enumerated String O87 Gene expression ExpressionPvalueAdjustmentMethod ExpressionPvalueAdjustmentMethod Method used to adjust the nominal value of the p-value when multiple tests are performed in parallel
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