Variant Pathogenic/Likely Pathogenic

Preferred Label : Variant Pathogenic/Likely Pathogenic;

NCIt synonyms : Pathogenic/Likely Pathogenic Variant;

NCIt related terms : Pathogenic/Likely Pathogenic;

NCIt definition : An ad hoc category that describes genetic variants with 90% or greater certainty of contributing to the development of a disease.;

NCI Metathesaurus CUI : CL1378699;

Details

Origin ID

C168803;

UMLS CUI

C5239575;

Semantic type(s)
- Nucleotide Sequence [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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