Trisomy 14 Mosaicism

Preferred Label : Trisomy 14 Mosaicism;

NCIt definition : A rare chromosomal disorder characterized by trisomy of chromosome 14 in some cells in the body. It manifests with intrauterine growth retardation, craniofacial abnormalities, failure to thrive, psychomotor delays, and mental retardation.;

Details

Origin ID

C116319;

UMLS CUI

C2930917;

Currated CISMeF NLP mapping
- Chromosome 14, trisomy mosaic [MeSH concept]
- Mosaic trisomy 14 [ORDO Disease]
- Mosaic trisomy 14 syndrome (disorder) [SNOMED CT concept]
- chromosome 14, trisomy mosaic [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 14, trisomy mosaic [MeSH concept]
- Mosaic trisomy 14 [ORDO Disease]
- Mosaic trisomy 14 syndrome (disorder) [SNOMED CT concept]
- chromosome 14, trisomy mosaic [MeSH Supplementary Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 14 [NCIt concept]

Keyword's position in hierarchy(ies) :

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