uniparental disomy

Preferred Label : uniparental disomy;

MeSH definition : The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).;

MeSH synonym : uniparental disomies; disomies, uniparental; disomy, uniparental;

MeSH hyponym : uniparental heterodisomy; uniparental isodisomy; Isodisomies, Uniparental; Uniparental Isodisomies; Heterodisomies, Uniparental; Heterodisomy, Uniparental; Uniparental Heterodisomies;

Wikipedia link : https://en.wikipedia.org/wiki/Uniparental isodisomy;

Details

Origin ID

D024182;

UMLS CUI

C0949628;

Allowable qualifiers
- chemically induced [MeSH Qualifier]
- cytology [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- immunology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Uniparental disomy [HPO term]
- Uniparental heterodisomy [HPO term]
- Uniparental isodisomy [HPO term]
Currated CISMeF NLP mapping
- Autosomal uniparental disomy [ORDO Disease]
- Uniparental Disomy [NCIt concept]
- Uniparental disomies [ICD-11 Category]
- Uniparental disomy [PASCAL descriptor]
- Uniparental disomy (disorder) [SNOMED CT concept]
Manual BTNT mappings - CISMeF
- Maternal uniparental disomy [ORDO Disease]
- Paternal uniparental disomy [ORDO Disease]
Record concept(s)
- uniparental disomy [MeSH concept]
- uniparental heterodisomy [MeSH concept]
- uniparental isodisomy [MeSH concept]
Related MeSH Supplementary Concept(s)
- chromosome 1, uniparental disomy 1q12 q21 [MeSH Supplementary Concept]
- chromosome 10, uniparental disomy of [MeSH Supplementary Concept]
- chromosome 15, trisomy mosaicism [MeSH Supplementary Concept]
- chromosome 16, uniparental disomy [MeSH Supplementary Concept]
- chromosome 21, uniparental disomy of [MeSH Supplementary Concept]
- chromosome 5, uniparental disomy [MeSH Supplementary Concept]
- chromosome 7, trisomy mosaic [MeSH Supplementary Concept]
- chromosome 8, mosaic trisomy [MeSH Supplementary Concept]
- chromosome 9, trisomy mosaic [MeSH Supplementary Concept]
- trisomy 22 mosaicism syndrome [MeSH Supplementary Concept]
- uniparental disomy of 11 [MeSH Supplementary Concept]
- uniparental disomy of 13 [MeSH Supplementary Concept]
- uniparental disomy of chromosome 2 [MeSH Supplementary Concept]
- uniparental disomy, paternal, chromosome 14 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal uniparental disomy [ORDO Disease]
- Uniparental Disomy [NCIt concept]
- Uniparental disomies [ICD-11 Category]
- Uniparental disomy [PASCAL descriptor]
- Uniparental disomy [HPO term]
- Uniparental disomy (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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