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NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
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Gene Deletion (CUI C0017260) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017260

NCI Thesaurus Code: C16606  (see NCI Thesaurus info)

Semantic Type: Genetic Function

NCIt Definition: Any deletion mutation that occurs within a gene, including the 5' and 3' untranslated regions of the gene.

NCI-GLOSS Definition: The loss of all or a part of a gene. There may also be a change in the RNA and protein made from that gene. Certain gene deletions are found in cancer and in other genetic diseases and abnormalities.

CSP Definition: genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity.

MSH Definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.

Synonyms & Abbreviations: (see Synonym Details)
Deletion, Gene
Deletions, Gene
Gene deletion (attribute)
gene deletion mutation
Gene Deletions
Gene deletion
MOLPATH.DEL
Transcript Ablation

External Source Codes: 
NCI Thesaurus Code C16606 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID X75OC SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1259-8216 CSP
DX 19930101 MSH
EFFECTIVE_TIME 20110131 SNOMEDCT_US
FX D002872 MSH
HN 93; was see CHROMOSOME DELETION 1984-92 MSH
MDA 19920520 MSH
MMR 20160617 MSH
MN G05.365.590.762.320 MSH
MN G05.558.800.320 MSH
MODULE_ID 900000000000012004 SNOMEDCT_US
MODULE_NAME SNOMED CT model component module SNOMEDCT_US
OL use CHROMOSOME DELETION to search GENE DELETION 1984-92 MSH
PM 93; was see CHROMOSOME DELETION 1984-92 MSH
SUBSET_MEMBER 900000000000497000~MAPTARGET~X75OC SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T051887 MSH
TH NLM (1993) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0017260

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