1q21.1 duplication

Preferred Label : 1q21.1 duplication;

ICD-11 synonym : Trisomy 1q21.1; 1q21.1 duplication syndrome;

Origin ID

1655130034;

UMLS CUI

C2675891;

Currated CISMeF NLP mapping
- 1q21.1 microduplication syndrome [ORDO Disease]
- 1q21.1 microduplication syndrome (disorder) [SNOMED CT concept]
- Chromosome 1q21.1 duplication syndrome [OMIM Phenotype]
- chromosome 1q21.1 duplication syndrome [DO Concept]
- chromosome 1q21.1 duplication syndrome [MeSH Supplementary Concept]
- chromosome 1q21.1 duplication syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 1q21.1 microduplication syndrome [ORDO Disease]
- Chromosome 1q21.1 duplication syndrome [OMIM Phenotype]
- chromosome 1q21.1 duplication syndrome [DO Concept]
- chromosome 1q21.1 duplication syndrome [MeSH concept]
- chromosome 1q21.1 duplication syndrome [MeSH Supplementary Concept]