Somatic Variation

Preferred Label : Somatic Variation;

NCIt synonyms : Somatic Mutation Abnormality; Somatic Variant;

NCIt related terms : Somatic Mutation;

NCIt definition : Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer.;

Alternative definition : NCI-GLOSS: An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.; CDISC: Any non-inheritable variation in the DNA that is not transmitted to the progeny but will be maintained during any mitosis within the individual.;

Codes from synonyms : CDR0000046586;

Details

Origin ID

C18060;

UMLS CUI

C0544886;

Automatic exact mappings (from CISMeF team)
- Somatic mutation [MedDRA LLT]
Molecular abnormality of diseases
- Refractory Cytopenia of Childhood [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Somatic mutation [MedDRA LLT]
- Somatic mutation [HPO term]
- Somatic mutation (finding) [SNOMED CT concept]
concept_is_in_subset
- CDISC SDTM Genomic Inheritability Type Response Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Clonal Hematopoiesis of Indeterminate Potential [NCIt concept]
- Myelodysplastic Syndrome with Biallelic TP53 Mutation [NCIt concept]
- Myelodysplastic Syndrome with Monoallelic TP53 Mutation [NCIt concept]
- Myelodysplastic Syndrome with Mutated SF3B1 [NCIt concept]
- Myelodysplastic Syndrome with Mutated TP53 [NCIt concept]
- Myelodysplastic Syndrome with Somatic Mutation [NCIt concept]

Keyword's position in hierarchy(ies) :

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