chromosome 17 trisomy

Preferred Label : chromosome 17 trisomy;

MeSH synonym : trisomy 17; trisomy 17 mosaicism; chromosome 17 duplication;

Origin ID

C538044;

UMLS CUI

C1096168;

Automatic exact mappings (from CISMeF team)
- Trisomy 17 [MedDRA Preferred Term]
- Trisomy 17 [NCIt concept]
CISMeF manual mappings
- Mosaic trisomy 17 [ORDO Disease]
Currated CISMeF NLP mapping
- Duplications of chromosome 17 [ICD-11 Subcategory]
MeSH term(s) associated for indexing
- chromosomes, human, pair 17 [MeSH Descriptor]
- mosaicism [MeSH Descriptor]
- trisomy [MeSH Descriptor]
Record concept(s)
- Chromosome 17 trisomy [MeSH concept]
See also inter- (CISMeF)
- Mosaic trisomy 17 syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Duplications of chromosome 17 [ICD-11 Subcategory]
- Mosaic trisomy 17 [ORDO Disease]
- Mosaic trisomy 17 syndrome (disorder) [SNOMED CT concept]
- Trisomy 17 [NCIt concept]
- Trisomy 17 [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Partial trisomy of chromosome 17 (disorder) [SNOMED CT concept]