Genetic Variation Functional Impact Classification

Preferred Label : Genetic Variation Functional Impact Classification;

NCIt related terms : VARIANT IMPACT CLASSIFICATION;

NCIt definition : A categorization of the phenotypic consequence of the genetic variation.;

Alternative definition : CDISC: A categorization of the phenotypic or clinical significance of the genomic variation.;

NCI Metathesaurus CUI : CL1664564;

Details

Origin ID

C181345;

UMLS CUI

C5557010;

Semantic type(s)
- Classification [UMLS semantic type]
concept_is_in_subset
- CDISC SDTM Genomic Findings Test Detail Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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