771340007: 15q11.2 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 15\Partial deletion of long arm of chromosome 15\15q11.2 microdeletion syndrome
• \Anomaly of chromosome pair 15\Deletion of part of chromosome 15\Partial deletion of long arm of chromosome 15\15q11.2 microdeletion syndrome
• \Congenital disease\Congenital anomaly\15q11.2 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 15\Partial deletion of long arm of chromosome 15\15q11.2 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Deletion of part of chromosome 15\Partial deletion of long arm of chromosome 15\15q11.2 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\15q11.2 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705825012	Monosomy 15q11.2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3705826013	15q11.2 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3705827016	15q11.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3705828014	A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	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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