monosomy - CISMeF

Preferred Label : monosomy;

MeSH definition : The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.;

MeSH synonym : monosomies;

MeSH annotation : one chromosome of a pair is missing;

Wikipedia link : https://en.wikipedia.org/wiki/Monosomy;

Details

Origin ID

D009006;

UMLS CUI

C0026499;

Allowable qualifiers
- diagnosis [MeSH Qualifier]
- genetics [MeSH Qualifier]
- immunology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Blinding Schema Code [NCIt concept]
- Feel Listless [NCIt concept]
- Feel Worthless [NCIt concept]
- Thousand [NCIt concept]
Manual BTNT mappings - CISMeF
- Total autosomal monosomy [ORDO Disease]
Record concept(s)
- monosomy [MeSH concept]
Related MeSH Supplementary Concept(s)
- chromosome 18 mosaic monosomy [MeSH Supplementary Concept]
- chromosome 21 monosomy [MeSH Supplementary Concept]
- chromosome 8 deletion [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal monosomy [ORDO Disease]
- Monosomy [PASCAL descriptor]
- Monosomy [NCIt concept]
- Monosomy (morphologic abnormality) [SNOMED CT concept]
- monosomy [SNOMED Notion]
- monosomy [Disease (Nov.)]
Validated automatic mappings to BTNT
- Deletions of the autosomes [ICD-11 Category]

Keyword's position in hierarchy(ies) :

Main resources

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