16p11.2 deletion syndrome

Preferred Label : 16p11.2 deletion syndrome;

Is substance : O;

Origin ID

C579850;

UMLS CUI

C3697355;

CISMeF manual mappings
- Chromosome 16p11.2 Deletion Syndrome [NCIt concept]
- Proximal 16p11.2 microdeletion syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- 16p11.2 deletion [ICD-11 More detail]
- Chromosome 16p11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 16p11.2 deletion syndrome, 593-kb [OMIM Phenotype]
- Proximal 16p11.2 microdeletion syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- autistic disorder [MeSH Descriptor]
- chromosome deletion [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- chromosomes, human, pair 16 [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- 16p11.2 deletion syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 16p11.2 Deletion Syndrome [NCIt concept]
- Chromosome 16p11.2 deletion syndrome (disorder) [SNOMED CT concept]