chromosome 20, trisomy

Preferred Label : chromosome 20, trisomy;

MeSH synonym : trisomy 20; trisomy 20 mosaicism; chromosome 20 duplication;

Origin ID

C535372;

UMLS CUI

C0265479;

Automatic exact mappings (from CISMeF team)
- Other specified trisomies and partial trisomies of autosomes [ICD-10 Sub-category (who)]
- Trisomy 20 [NCIt concept]
CISMeF manual mappings
- Mosaic trisomy 20 [ORDO Disease]
Currated CISMeF NLP mapping
- Duplications of chromosome 20 [ICD-11 Subcategory]
MeSH term(s) associated for indexing
- chromosomes, human, pair 20 [MeSH Descriptor]
- mosaicism [MeSH Descriptor]
- trisomy [MeSH Descriptor]
Record concept(s)
- Chromosome 20, trisomy [MeSH concept]
See also inter- (CISMeF)
- Mosaic trisomy 20 syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Complete trisomy 20 syndrome (disorder) [SNOMED CT concept]
- Duplications of chromosome 20 [ICD-11 Subcategory]
- Mosaic trisomy 20 [ORDO Disease]
- Mosaic trisomy 20 syndrome (disorder) [SNOMED CT concept]
- Trisomy 20 [NCIt concept]
- complete trisomy 20 syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Partial trisomy of chromosome 20 (disorder) [SNOMED CT concept]