Simple variant name:Find:Pt: Patient:Nom:

Preferred Label : Simple variant name:Find:Pt: Patient:Nom:;

LOINC status : TRIAL;

LOINC display name : Simple variant name Nom;

LOINC long common name : Simple variant name Nominal;

LOINC short name : Simple var name;

LOINC description : This term is used to report the formal name of a simple variant, including the reference sequence and nucleotide change. For example, NM_014049.4(ACAD9):c.1249C T (p.Arg417Cys) represents an ACAD9 gene variant with nucleotide change c.1249C T and protein change p.Arg417Cys that has the NCBI reference sequence NM_014049.4. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/];

Details

Origin ID

81253-7;

UMLS CUI

C4265559;

Has component
- Name [LOINC component]
- Simple variant [LOINC component]
- Simple variant name [LOINC component]
Has property
- Finding [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]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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