Gene Deletion Abnormality

Preferred Label : Gene Deletion Abnormality;

Obsolete resource : true;

NCIt synonyms : Deletion; Gene Deletion;

NCIt definition : Loss of a DNA sequence that contains one or more genes. This typically occurs via rearrangement, whereby DNA sequences that are normally separated become joined together. A gene deletion abnormality can be either heritable or somatic.;

NCIt note : See 'Deletion Mutation(C19296)';

Concept status : Retired_Concept;

Details

Origin ID

C45583;

UMLS CUI

C1442161;

Automatic exact mappings (from CISMeF team)
- Deletion [PASCAL descriptor]
- Deletion (morphologic abnormality) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Deletions [LOINC Class]
- Gene deletion (attribute) [SNOMED CT concept]
- gene deletion [MeSH Descriptor]
- gene deletion [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]

Keyword's position in hierarchy(ies) :

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