chromosome 22q11.2 microduplication syndrome

Preferred Label : chromosome 22q11.2 microduplication syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0567524;

UMLS CUI

C2675369;

CISMeF manual mappings
- 22q11.2 duplication syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 22q11.2 duplication [ICD-11 More detail]
- 22q11.2 duplication syndrome [ORDO Disease]
- 22q11.2 duplication syndrome [ICD-11 More detail]
- Chromosome 22q11.2 duplication syndrome [OMIM Phenotype]
- Distal 22q11.2 microduplication syndrome [ORDO Disease]
- chromosome 22q11.2 microduplication syndrome [DO Concept]
Related record
- chromosome 22q11.2 microduplication syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 duplication [ICD-11 More detail]
- 22q11.2 duplication syndrome [ORDO Disease]
- 22q11.2 duplication syndrome [ICD-11 More detail]
- 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]