16p11.2 deletion

Preferred Label : 16p11.2 deletion;

ICD-11 definition : The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.;

ICD-11 synonym : Proximal 16p11.2 microdeletion syndrome; Monosomy 16p11.2; 16p11.2 deletion syndrome;

Details

Origin ID

1398449020;

Currated CISMeF NLP mapping
- 16p11.2 deletion syndrome [MeSH concept]
- 16p11.2 deletion syndrome [MeSH Supplementary Concept]
- Chromosome 16p11.2 Deletion Syndrome [NCIt 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]

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