Chromosomal Deletion

Preferred Label : Chromosomal Deletion;

NCIt synonyms : Partial Monosomy; del;

NCIt definition : Loss of a portion of a chromosome arm.;

Details

Origin ID

C9484;

UMLS CUI

C0008628;

Automatic exact mappings (from CISMeF team)
- DEL [UBERON concept]
- Y chromosome deletion [LOINC component]
- deletion [COVID-19 Thesaurus concept]
Currated CISMeF NLP mapping
- Chromosomal deletion [MedDRA Preferred Term]
- Chromosomal deletion NOS [MedDRA LLT]
- Partial autosomal monosomy [ORDO Disease]
- Partial monosomy (morphologic abnormality) [SNOMED CT concept]
- chromosome deletion [MeSH concept]
- chromosome deletion [MeSH Descriptor]
- chromosome deletion [Disease (Nov.)]
- partial monosomy [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosomal deletion [MedDRA Preferred Term]
- Chromosomal deletion NOS [MedDRA LLT]
- chromosome deletion [Disease (Nov.)]
- chromosome deletion [MeSH concept]
- chromosome deletion [MeSH Descriptor]
Validated automatic mappings to BTNT
- Chromosome Y deletion [ICD-11 More detail]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_abnormality_of_gene
- IL1RAPL1/DMD Fusion Gene [NCIt concept]
- P2RY8/CRLF2 Fusion Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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