Chromosome 16p11.2 Deletion Syndrome

Preferred Label : Chromosome 16p11.2 Deletion Syndrome;

NCIt definition : A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders.;

Alternative definition : NICHD: A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay, and autism spectrum conditions.;

Details

Origin ID

C120408;

UMLS CUI

C3697355;

Automatic exact mappings (from CISMeF team)
- Chromosome 16p11.2 deletion syndrome, 220-kb [OMIM Phenotype]
- chromosome 16p11.2 deletion syndrome [DO Concept]
CISMeF manual mappings
- 16p11.2 deletion syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 16p11.2 deletion [ICD-11 More detail]
- 16p11.2 deletion syndrome [MeSH concept]
- Chromosome 16p11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 16p11.2 deletion syndrome, 593-kb [OMIM Phenotype]
- Proximal 16p11.2 microdeletion syndrome [ORDO Disease]
- Proximal 16p11.2 microdeletion syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 16p11.2 deletion syndrome [MeSH Supplementary Concept]
- 16p11.2 deletion syndrome [MeSH concept]
- Chromosome 16p11.2 deletion syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 16 [NCIt concept]

Keyword's position in hierarchy(ies) :

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