OMOP Concept 45876019
Gene deletion
ClassificationMeasurementLOINCMOLPATH.DELLOINC Class
Maps from
0
Descendants
67
Valid from
1 Jan 1970
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Narrower concepts
(67)Included automatically when you query with descendants.
- 118q chromosome deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- 119q chromosome deletion [Presence] in Blood or Tissue by Molecular genetics method
- 11p and 19q chromosome deletion [Presence] in Fixed tissue by Molecular genetics method
- 11p chromosome deletion [Presence] in Blood or Tissue by Molecular genetics method
- 120q chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal
- 14p16.3 chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal
- 15p15.2 (5p-) chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal
- 19p21 chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal
- 19q34 chromosome region deletion [Interpretation] in Blood or Tissue by FISH Narrative
- 19q34 chromosome region deletion [Presence] in Blood or Tissue by FISH
- 1AML/MDS gene 7q31 deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- 1CDKN2A gene deletion [Presence] in Blood or Tissue by Molecular genetics method
- 1CDKN2B gene deletion [Presence] in Blood or Tissue by Molecular genetics method
- 1Cells.MYB gene deletion/Cells counted in Blood or Tissue by FISH
- 1Comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1Comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1Comment on fetal 5p deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1Comment on fetal Prader-Willi syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1Del(13)(q14) [Identifier] in Blood or Tissue by FISH Nominal
- 1Del(17)(p13) [Identifier] in Blood or Tissue by FISH Nominal
- 1Del(1)(p32p32)(STIL,TAL1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
- 1Del(5)(q12-35) deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- 1DMD gene deletion and duplication mutation analysis in Amniotic fluid or Chorionic villus sample by MLPA
- 1DMD gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
- 1Fetal 1p36 deletion prior risk [Likelihood] based on general population risk
- 1Fetal 1p36 deletion prior risk [Likelihood] based on general population risk Narrative
- 1Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
- 1Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
- 1Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk
- 1Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk Narrative
- 1Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
- 1Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
- 1Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1Fetal 5p deletion prior risk [Likelihood] based on general population risk
- 1Fetal 5p deletion prior risk [Likelihood] based on general population risk Narrative
- 1Fetal 5p deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
- 1Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
- 1Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk
- 1Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk Narrative
- 1Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
- 1Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
- 1Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
- 1HBA1+2 gene FIL deletion [Presence] in Blood by Molecular genetics method
- 1HBA1+2 gene THAI deletion [Presence] in Blood by Molecular genetics method
- 1HBA2 gene alpha 3.7kb deletion [Presence] in Blood by Molecular genetics method
- 1HBA2 gene alpha 4.2kb deletion [Presence] in Blood by Molecular genetics method
- 1HBA2 gene SEA deletion [Presence] in Blood by Molecular genetics method
- 1HBA2 gene THAI+FIL+MED+alpha 20.5 deletion [Presence] in Blood by Molecular genetics method
Get this concept via the API
Resolve Gene deletion - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/45876019?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card