787175002: Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\ANK3-related intellectual disability, sleep disturbance syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\ANK3-related intellectual disability, sleep disturbance syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\ANK3-related intellectual disability, sleep disturbance syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\ANK3-related intellectual disability, sleep disturbance syndrome
• \General finding of observation of patient\Finding related to sleep\Sleep disorder\Dyssomnia\ANK3-related intellectual disability, sleep disturbance syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\ANK3-related intellectual disability, sleep disturbance syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\ANK3-related intellectual disability, sleep disturbance syndrome
• \Disease\Sleep disorder\Dyssomnia\ANK3-related intellectual disability, sleep disturbance syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\ANK3-related intellectual disability, sleep disturbance syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\ANK3-related intellectual disability, sleep disturbance syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3774808014	Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3774809018	ANK3-related intellectual disability, sleep disturbance syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3774810011	Ankyrin 3 related intellectual disability, sleep disturbance syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3775520017	A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3775521018	A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioural problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported.	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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