765142003: Proximal 16p11.2 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\Proximal 16p11.2 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\Proximal 16p11.2 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\Proximal 16p11.2 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\Proximal 16p11.2 microduplication syndrome
• \Congenital disease\Congenital anomaly\Proximal 16p11.2 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\Proximal 16p11.2 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of short arm of chromosome 16\Proximal 16p11.2 microduplication syndrome
• \Developmental disorder\Congenital anomaly\Proximal 16p11.2 microduplication syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3657167014	Proximal 16p11.2 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3657168016	Proximal 16p11.2 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657169012	Proximal trisomy 16p11.2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3657170013	A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16. The disease has characteristics of developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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