Deletion Mutation

Preferred Label : Deletion Mutation;

NCIt synonyms : Deletion Abnormality; Deletion; Gene Deletion Abnormality; del;

NCIt related terms : Deletion NOS;

NCIt definition : Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions.;

Alternative definition : NCI-GLOSS: Absence of a segment of DNA; may be as small as a single base or as large as a whole chromosome.;

Codes from synonyms : CDR0000460141;

Details

Origin ID

C19296;

UMLS CUI

C1511760;

C1442161;

Automatic exact mappings (from CISMeF team)
- Deletion [PASCAL descriptor]
- Deletion (morphologic abnormality) [SNOMED CT concept]
- Deletions [LOINC Class]
- deletion [COVID-19 Thesaurus concept]
- sequence deletion [MeSH Descriptor]
Currated CISMeF NLP mapping
- deletion mutation [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Deletion (morphologic abnormality) [SNOMED CT concept]
- deletion [LOINC part]
- deletion mutation [MeSH concept]
abnormality_associated_with_allele
- CYP2C8*5 Allele [NCIt concept]
- CYP2C9*1 Allele [NCIt concept]
- CYP2C9*6 Allele [NCIt concept]
- CYP2D6*13 Allele [NCIt concept]
- CYP2D6*16 Allele [NCIt concept]
- CYP2D6*19 Allele [NCIt concept]
- CYP2D6*3 Allele [NCIt concept]
- CYP2D6*38 Allele [NCIt concept]
- CYP2D6*5 Allele [NCIt concept]
- CYP2D6*6 Allele [NCIt concept]
- CYP2D6*9 Allele [NCIt concept]
- CYP3A5*6 Allele [NCIt concept]
concept_is_in_subset
- ALL Authorized Value Terminology [NCIt concept]
- ALL Molecular Analysis Table [NCIt concept]
- AML Authorized Value Terminology [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- CTDC Value Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
- GCT Authorized Value Terminology [NCIt concept]
- GCT Molecular Analysis Table [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
is_abnormality_of_gene
- CSMD1 Gene [NCIt concept]
- CSMD1 wt Allele [NCIt concept]
- SNAI2 Gene [NCIt concept]
- SNAI2 wt Allele [NCIt concept]
is_abnormality_of_gene_product
- CUB and Sushi Domain-Containing Protein 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

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