772127009: White Sutton syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\White Sutton syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\White Sutton syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\White Sutton syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\White Sutton syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\White Sutton syndrome

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3717154011	White Sutton syndrome	en	Synonym	Active	Case sensitive	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	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

Description inactivation indicator reference set

Back to Start