chromosome 22q11.2 deletion syndrome, distal

Preferred Label : chromosome 22q11.2 deletion syndrome, distal;

MeSH synonym : distal chromosome 22q11.2 deletion syndrome;

Origin ID

C567511;

UMLS CUI

C2678480;

Currated CISMeF NLP mapping
- Chromosome 22q11.2 deletion syndrome, distal [OMIM Phenotype]
- Distal 22q11.2 microdeletion syndrome [ORDO Disease]
- Distal 22q11.2 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 22q11.2 deletion syndrome, distal [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 22 [MeSH Descriptor]
- digeorge syndrome [MeSH Descriptor]
Record concept(s)
- chromosome 22q11.2 deletion syndrome, distal [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 22q11.2 deletion syndrome, distal [OMIM Phenotype]
- Distal 22q11.2 microdeletion syndrome [ORDO Disease]
- chromosome 22q11.2 deletion syndrome, distal [DO Concept]