Simple variant:ID:Pt: Patient:Nom:

Preferred Label : Simple variant:ID:Pt: Patient:Nom:;

LOINC status : TRIAL;

LOINC display name : Simple variant Nom [ID];

LOINC long common name : Discrete genetic variant;

LOINC short name : Simple var ID;

LOINC description : This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880 NM_014049.4(ACAD9):c.1249C T (p.Arg417Cys) ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/];

Détails

Origin ID

81252-9;

UMLS CUI

C4265560;

Has component
- Simple variant [LOINC component]
Has property
- Identifier [LOINC Property]
Has scale
- Nom [LOINC scale]
Has system
- Patient [LOINC System]
- ^Patient [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Part of panel
- Simple variant panel:-:Pt:^Patient:-: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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