22q11.2 duplication

Preferred Label : 22q11.2 duplication;

ICD-11 synonym : Distal trisomy 22q11.2;

Origin ID

1992622390;

UMLS CUI

C2675369;

Automatic exact mappings (from CISMeF team)
- Distal 22q11.2 microduplication syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 22q11.2 duplication syndrome [ORDO Disease]
- 22q11.2 duplication syndrome (disorder) [SNOMED CT concept]
- Chromosome 22q11.2 duplication syndrome [OMIM Phenotype]
- Distal 22q11.2 microduplication syndrome [ORDO Disease]
- chromosome 22q11.2 microduplication syndrome [MeSH Supplementary Concept]
- chromosome 22q11.2 microduplication syndrome [DO Concept]
- chromosome 22q11.2 microduplication syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 duplication syndrome [ORDO Disease]
- 22q11.2 duplication syndrome (disorder) [SNOMED CT concept]
- Chromosome 22q11.2 duplication syndrome [OMIM Phenotype]
- Distal 22q11.2 microduplication syndrome [ORDO Disease]
- chromosome 22q11.2 microduplication syndrome [DO Concept]
- chromosome 22q11.2 microduplication syndrome [MeSH concept]
- chromosome 22q11.2 microduplication syndrome [MeSH Supplementary Concept]