772127009: White Sutton syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\White Sutton syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\White Sutton syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\White Sutton syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\White Sutton syndrome (disorder)
• \Disease\Genetic disease\Genetic intellectual disability\White Sutton syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\White Sutton syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3717153017	White Sutton syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3717154011	White Sutton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3716697013	Syndrome with manifestations of borderline normal to severe intellectual disability. Most affected individuals have autism spectrum disorder (ASD), which can occur with characteristics that are unusual in people with ASD, such as an overly friendly demeanor. Other characteristics include delayed development, microcephaly, brachycephaly, hypertelorism, midface hypoplasia, small mouth with a thin upper lip. Diaphragmatic hernia is present in some cases. Caused by mutations in the POGZ gene. POGZ gene mutations are thought to impair the ability of the POGZ protein to bind to chromatin, leading to abnormal gene expression that affects development of the brain and other body systems. May be inherited in an autosomal dominant pattern, however most cases result from de novo mutations in the gene.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405162015	A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405163013	A rare, genetic, syndromic intellectual disability disorder characterised by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioural abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastro-oesophageal reflux, constipation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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